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PLAGL1 PLAG1 like zinc finger 1 [ Homo sapiens (human) ]

Gene ID: 5325, updated on 2-Nov-2024

Summary

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Official Symbol
PLAGL1provided by HGNC
Official Full Name
PLAG1 like zinc finger 1provided by HGNC
Primary source
HGNC:HGNC:9046
See related
Ensembl:ENSG00000118495 MIM:603044; AllianceGenome:HGNC:9046
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ZAC; LOT1; ZAC1
Summary
This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]
Expression
Broad expression in placenta (RPKM 68.4), skin (RPKM 15.8) and 16 other tissues See more
Orthologs
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Genomic context

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See PLAGL1 in Genome Data Viewer
Location:
6q24.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (143940300..144064599, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (145132991..145257328, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (144261437..144385736, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25206 Neighboring gene MPRA-validated peak6180 silencer Neighboring gene LTV1 ribosome biogenesis factor Neighboring gene MPRA-validated peak6181 silencer Neighboring gene zinc finger C2HC-type containing 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25207 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:144279682-144280240 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:144285771-144286284 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:144293958-144294542 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:144294543-144295127 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:144328825-144329007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17633 Neighboring gene hydatidiform mole associated and imprinted Neighboring gene FKBP prolyl isomerase 7 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17637 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:144410739-144410950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25211 Neighboring gene uncharacterized LOC105378036 Neighboring gene splicing factor 3b subunit 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome. Mitchell J, et al. Diabetologia, 2004 Dec. PMID 15592663
  2. The cell cycle control gene ZAC/PLAGL1 is imprinted--a strong candidate gene for transient neonatal diabetes. Kamiya M, et al. Hum Mol Genet, 2000 Feb 12. PMID 10655556
  3. Alternative splicing of the imprinted candidate tumor suppressor gene ZAC regulates its antiproliferative and DNA binding activities. Bilanges B, et al. Oncogene, 2001 Mar 8. PMID 11313869
  4. A novel variation of PLAGL1 in Chinese patients with isolated ventricular septal defect. Xuan C, et al. Genet Test Mol Biomarkers, 2012 Aug. PMID 22784302, Free PMC Article
  5. A positive feedback mechanism in the transcriptional activation of Apaf-1 by p53 and the coactivator Zac-1. Rozenfeld-Granot G, et al. Oncogene, 2002 Feb 28. PMID 11896574

See all (98) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Concurrent ependymal and ganglionic differentiation in a subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement.
    Title: Concurrent ependymal and ganglionic differentiation in a subset of supratentorial neuroepithelial tumors with EWSR1-PLAGL1 rearrangement.
  2. Central nervous system embryonal tumors with EWSR1-PLAGL1 rearrangements reclassified as INI-1 deficient tumors at relapse.
    Title: Central nervous system embryonal tumors with EWSR1-PLAGL1 rearrangements reclassified as INI-1 deficient tumors at relapse.
  3. CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas.
    Title: CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas.
  4. PLAGL1 is associated with prognosis and cell proliferation in pancreatic adenocarcinoma.
    Title: PLAGL1 is associated with prognosis and cell proliferation in pancreatic adenocarcinoma.
  5. Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification.
    Title: Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification.
  6. Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors.
    Title: Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors.
  7. Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations.
    Title: Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations.
  8. Transcription Factor PLAGL1 Is Associated with Angiogenic Gene Expression in the Placenta.
    Title: Transcription Factor PLAGL1 Is Associated with Angiogenic Gene Expression in the Placenta.
  9. Gene expression profiling identifies the role of Zac1 in cervical cancer metastasis.
    Title: Gene expression profiling identifies the role of Zac1 in cervical cancer metastasis.
  10. Focusing on ISL1 and PLAGL1 the authors found no statistically significant differences in methylation status at these loci between patients and control samples. However, 20 CpGs in PLAGL1 and 19 CpGs in ISL1 showed at least 25% increase or decrease of DNA methylation.
    Title: Classic bladder exstrophy and adenocarcinoma of the bladder: Methylome analysis provide no evidence for underlying disease-mechanisms of this association.
Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated 2012-08-26)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated 2012-08-26)

ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif downregulates the expression of pleiomorphic adenoma gene-like 1 (PLAGL1) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC126275, MGC126276, DKFZp781P1017

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in apoptotic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell cycle TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
zinc finger protein PLAGL1
Names
PLAG-like 1
lost on transformation 1
pleiomorphic adenoma gene-like 1
tumor suppressor ZAC

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009384.2 RefSeqGene

    Range
    5000..129299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1101

mRNA and Protein(s)

  1. NM_001080951.3 → NP_001074420.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001074420.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) initiates from the P2 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AI741398, AJ311395, DA675185, DA991276, EF100448
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  2. NM_001080952.3 → NP_001074421.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001074421.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as P1G) initiates from the P1 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AI741398, AJ311395, EF100448, EF100452, U72621
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  3. NM_001080953.3 → NP_001074422.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001074422.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as P1E) initiates from the P1 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AI741398, AJ311395, EF100448, EF100450, U72621
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Related
    ENSP00000496979.1, ENST00000649307.1
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  4. NM_001080954.3 → NP_001074423.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001074423.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6, also known as P1D) initiates from the P1 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AI741398, AJ311395, DA595200, EF100448, EF100449, U72621
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  5. NM_001080955.3 → NP_001074424.1  zinc finger protein PLAGL1 isoform 1

    See identical proteins and their annotated locations for NP_001074424.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7, also known as P2C) initiates from the P2 promoter, differs in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (1, also known as ZACdelta2) has a shorter N-terminus than isoform 2. Variants 7, 8, 9, 11, 13, 14, 21, 24, and 26 all encode the same isoform (1).
    Source sequence(s)
    AI741398, AJ311395, DA675185, DA991276, EF100440
    Consensus CDS
    CCDS5203.1
    UniProtKB/Swiss-Prot
    Q9UM63
    UniProtKB/TrEMBL
    A1YLA2
    Conserved Domains (3) summary
    COG5236
    Location:28 → 155
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:70 → 90
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:10 → 32
    zf-C2H2; Zinc finger, C2H2 type

  6. NM_001080956.3 → NP_001074425.1  zinc finger protein PLAGL1 isoform 1

    See identical proteins and their annotated locations for NP_001074425.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) initiates from the P1 promoter, differs in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (1, also known as ZACdelta2) has a shorter N-terminus than isoform 2. Variants 7, 8, 9, 11, 13, 14, 21, 24, and 26 all encode the same isoform (1).
    Source sequence(s)
    AI741398, AJ311395, DA426770
    Consensus CDS
    CCDS5203.1
    UniProtKB/Swiss-Prot
    Q9UM63
    Related
    ENSP00000395960.2, ENST00000417959.4
    Conserved Domains (3) summary
    COG5236
    Location:28 → 155
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:70 → 90
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:10 → 32
    zf-C2H2; Zinc finger, C2H2 type

  7. NM_001289037.2 → NP_001275966.1  zinc finger protein PLAGL1 isoform 1

    See identical proteins and their annotated locations for NP_001275966.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9, also known as P2B) initiates from the P2 promoter, differs in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (1, also known as ZACdelta2) has a shorter N-terminus than isoform 2. Variants 7, 8, 9, 11, 13, 14, 21, 24, and 26 all encode the same isoform (1).
    Source sequence(s)
    AJ311395, AW136077, DA675185, EF100439
    Consensus CDS
    CCDS5203.1
    UniProtKB/Swiss-Prot
    Q9UM63
    UniProtKB/TrEMBL
    A1YLA2
    Conserved Domains (3) summary
    COG5236
    Location:28 → 155
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:70 → 90
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:10 → 32
    zf-C2H2; Zinc finger, C2H2 type

  8. NM_001289038.2 → NP_001275967.1  zinc finger protein PLAGL1 isoform 1

    See identical proteins and their annotated locations for NP_001275967.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11, also known as P2D) initiates from the P2 promoter, differs in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (1, also known as ZACdelta2) has a shorter N-terminus than isoform 2. Variants 7, 8, 9, 11, 13, 14, 21, 24, and 26 all encode the same isoform (1).
    Source sequence(s)
    AJ311395, AW136077, DA675185, EF100441
    Consensus CDS
    CCDS5203.1
    UniProtKB/Swiss-Prot
    Q9UM63
    UniProtKB/TrEMBL
    A1YLA2
    Related
    ENSP00000392418.1, ENST00000437412.5
    Conserved Domains (3) summary
    COG5236
    Location:28 → 155
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:70 → 90
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:10 → 32
    zf-C2H2; Zinc finger, C2H2 type

  9. NM_001289039.2 → NP_001275968.1  zinc finger protein PLAGL1 isoform 1

    See identical proteins and their annotated locations for NP_001275968.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13, also known as P2H) initiates from the P2 promoter, differs in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (1, also known as ZACdelta2) has a shorter N-terminus than isoform 2. Variants 7, 8, 9, 11, 13, 14, 21, 24, and 26 all encode the same isoform (1).
    Source sequence(s)
    AJ311395, AW136077, DA675185, EF100443
    Consensus CDS
    CCDS5203.1
    UniProtKB/Swiss-Prot
    Q9UM63
    UniProtKB/TrEMBL
    A1YLA2
    Conserved Domains (3) summary
    COG5236
    Location:28 → 155
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:70 → 90
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:10 → 32
    zf-C2H2; Zinc finger, C2H2 type

  10. NM_001289040.2 → NP_001275969.1  zinc finger protein PLAGL1 isoform 1

    See identical proteins and their annotated locations for NP_001275969.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14, also known as P2I) initiates from the P2 promoter, differs in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (1, also known as ZACdelta2) has a shorter N-terminus than isoform 2. Variants 7, 8, 9, 11, 13, 14, 21, 24, and 26 all encode the same isoform (1).
    Source sequence(s)
    AJ311395, AW136077, DA675185, EF100439, EF100444
    Consensus CDS
    CCDS5203.1
    UniProtKB/Swiss-Prot
    Q9UM63
    UniProtKB/TrEMBL
    A1YLA2
    Conserved Domains (3) summary
    COG5236
    Location:28 → 155
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:70 → 90
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:10 → 32
    zf-C2H2; Zinc finger, C2H2 type

  11. NM_001289041.2 → NP_001275970.1  zinc finger protein PLAGL1 isoform 1

    See identical proteins and their annotated locations for NP_001275970.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (21, also known as P1F) initiates from the P1 promoter, differs in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (1, also known as ZACdelta2) has a shorter N-terminus than isoform 2. Variants 7, 8, 9, 11, 13, 14, 21, 24, and 26 all encode the same isoform (1).
    Source sequence(s)
    AJ311395, AW136077, DA717476, DA806571
    Consensus CDS
    CCDS5203.1
    UniProtKB/Swiss-Prot
    Q9UM63
    Conserved Domains (3) summary
    COG5236
    Location:28 → 155
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:70 → 90
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:10 → 32
    zf-C2H2; Zinc finger, C2H2 type

  12. NM_001289042.2 → NP_001275971.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001275971.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10, also known as P2A) initiates from the P2 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AJ311395, AW136077, DA675185, EF100438
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  13. NM_001289043.2 → NP_001275972.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001275972.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12, also known as P2E) initiates from the P2 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AJ311395, AW136077, DA675185, EF100442
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Related
    ENSP00000400929.1, ENST00000444202.5
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  14. NM_001289044.2 → NP_001275973.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001275973.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (15, also known as P2J) initiates from the P2 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AJ311395, AW136077, DA675185, EF100445
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  15. NM_001289045.2 → NP_001275974.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001275974.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (16) initiates from the P1 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AJ311395, AK096331, AW136077, DA385311
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Related
    ENSP00000486355.1, ENST00000625622.2
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  16. NM_001289046.2 → NP_001275975.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001275975.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (17) initiates from the P1 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AJ311395, AW136077
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Related
    ENSP00000346810.2, ENST00000354765.6
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  17. NM_001289047.2 → NP_001275976.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001275976.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (18, also known as P1A) initiates from the P1 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AJ311395, AW136077, DA806571, EF100446
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Related
    ENSP00000400060.1, ENST00000416623.5
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  18. NM_001289048.2 → NP_001275977.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001275977.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (19, also known as P1B) initiates from the P1 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AJ311395, AW136077, DA806571, EF100447
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Related
    ENSP00000497492.1, ENST00000649211.1
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  19. NM_001289049.2 → NP_001275978.1  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_001275978.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (20, also known as P1C) initiates from the P1 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AJ311395, AW136077, DA806571, EF100448
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  20. NM_001317156.1 → NP_001304085.1  zinc finger protein PLAGL1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (22) differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AL049844, AL109755
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Related
    ENSP00000353734.2, ENST00000360537.6
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  21. NM_001317157.2 → NP_001304086.1  zinc finger protein PLAGL1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (23) differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AI741398, AJ006354, AJ311395, AL109755, EF100447
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Related
    ENSP00000356543.1, ENST00000367571.3
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  22. NM_001317158.1 → NP_001304087.1  zinc finger protein PLAGL1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (24) differs in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (1, also known as ZACdelta2) has a shorter N-terminus than isoform 2. Variants 7, 8, 9, 11, 13, 14, 21, 24, and 26 all encode the same isoform (1).
    Source sequence(s)
    AL049844, AL109755, U81992
    Consensus CDS
    CCDS5203.1
    UniProtKB/Swiss-Prot
    Q9UM63
    Related
    ENSP00000356544.1, ENST00000367572.3
    Conserved Domains (3) summary
    COG5236
    Location:28 → 155
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:70 → 90
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:10 → 32
    zf-C2H2; Zinc finger, C2H2 type

  23. NM_001317159.2 → NP_001304088.1  zinc finger protein PLAGL1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (25) differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AI741398, AJ311395, AL031390, DB177852, EF100448
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  24. NM_001317160.2 → NP_001304089.1  zinc finger protein PLAGL1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (26) initiates from the P1 promoter, differs in the 5' UTR and 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (1) has a shorter N-terminus than isoform 2. Variants 7, 8, 9, 11, 13, 14, 21, 24, and 26 all encode the same isoform (1).
    Source sequence(s)
    AI741398, AJ311395, DA549753
    Consensus CDS
    CCDS5203.1
    UniProtKB/Swiss-Prot
    Q9UM63
    Related
    ENSP00000496815.1, ENST00000647880.1
    Conserved Domains (3) summary
    COG5236
    Location:28 → 155
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:70 → 90
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:10 → 32
    zf-C2H2; Zinc finger, C2H2 type

  25. NM_001317161.2 → NP_001304090.1  zinc finger protein PLAGL1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (27) initiates from the P1 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AI741398, AJ311395, AL109755, DA025970
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  26. NM_001317162.2 → NP_001304091.1  zinc finger protein PLAGL1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (28) initiates from the P1 promoter and differs in the 5' UTR compared to variant 2. Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AI741398, AJ311395, DA370204
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Related
    ENSP00000501459.1, ENST00000674357.1
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

  27. NM_006718.5 → NP_006709.2  zinc finger protein PLAGL1 isoform 2

    See identical proteins and their annotated locations for NP_006709.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) initiates from the P1 promoter and encodes the longer isoform (2). Variants 2, 3, 4, 5, 6, 10, 12, 15, 16, 17, 18, 19, 20, 22, 23, 25, 27, and 28 all encode the same isoform (2).
    Source sequence(s)
    AI741398, AJ311395, DA391124, DA549753, EF100447
    Consensus CDS
    CCDS5202.1
    UniProtKB/Swiss-Prot
    B2RBA4, B2RCM8, E1P595, E1P597, O76019, Q7Z3V8, Q92981, Q96JR9, Q9UIZ0, Q9UM63
    Conserved Domains (3) summary
    COG5189
    Location:29 → 109
    SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
    COG5236
    Location:80 → 207
    COG5236; Uncharacterized conserved protein, contains RING Zn-finger [General function prediction only]
    sd00017
    Location:6 → 26
    ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    143940300..144064599 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    145132991..145257328 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_002656.3: Suppressed sequence

    Description
    NM_002656.3: This RefSeq was removed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UM63.2 GenPept UniProtKB/Swiss-Prot:Q9UM63

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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