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    ZNF274 zinc finger protein 274 [ Homo sapiens (human) ]

    Gene ID: 10782, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF274provided by HGNC
    Official Full Name
    zinc finger protein 274provided by HGNC
    Primary source
    HGNC:HGNC:13068
    See related
    Ensembl:ENSG00000171606 MIM:605467; AllianceGenome:HGNC:13068
    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
    ZF2; HFB101; ZSCAN51; ZKSCAN19
    Summary
    This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.7), ovary (RPKM 7.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF274 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (58183061..58213562)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (61276790..61310024)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58694428..58724928)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15178 Neighboring gene uncharacterized LOC124904784 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58694039-58694752 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58694753-58695464 Neighboring gene uncharacterized LOC105372479 Neighboring gene ribosomal protein S15a pseudogene 36 Neighboring gene zinc finger protein 436 pseudogene

    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
    • 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. Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons. Langouët M, et al. Hum Mol Genet, 2020 Nov 25. PMID 32977341, Free PMC Article
    2. Identification and characterization of human ZNF274 cDNA, which encodes a novel kruppel-type zinc-finger protein having nucleolar targeting ability. Yano K, et al. Genomics, 2000 Apr 1. PMID 10777669
    3. The KAP1 corepressor functions to coordinate the assembly of de novo HP1-demarcated microenvironments of heterochromatin required for KRAB zinc finger protein-mediated transcriptional repression. Sripathy SP, et al. Mol Cell Biol, 2006 Nov. PMID 16954381, Free PMC Article
    4. MAS promoter regulation: a role for Sry and tyrosine nitration of the KRAB domain of ZNF274 as a feedback mechanism. Prokop JW, et al. Clin Sci (Lond), 2014 May. PMID 24128372, Free PMC Article
    5. The structurally disordered KRAB repression domain is incorporated into a protease resistant core upon binding to KAP-1-RBCC domain. Peng H, et al. J Mol Biol, 2007 Jul 6. PMID 17512541

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.
      Title: Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.
    2. A proximal promoter construct for the MAS gene was repressed by the SOX [SRY (sex-determining region on the Y chromosome) box] proteins SRY, SOX2, SOX3 and SOX14, of which SRY is known to interact with the KRAB domain.
      Title: MAS promoter regulation: a role for Sry and tyrosine nitration of the KRAB domain of ZNF274 as a feedback mechanism.
    3. analysis of a KRAB domain-containing ZNF (ZNF274) that is involved in recruitment of the KAP1 and SETDB1 to specific regions of the human genome
      Title: ZNF274 recruits the histone methyltransferase SETDB1 to the 3' ends of ZNF genes.
    4. KAP1 functions to coordinate activities that dynamically regulate changes in histone modifications and deposition of HP1 to establish a de novo microenvironment of heterochromatin, which is required for repression of gene transcription by KRAB-zfps.
      Title: The KAP1 corepressor functions to coordinate the assembly of de novo HP1-demarcated microenvironments of heterochromatin required for KRAB zinc finger protein-mediated transcriptional repression.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    • FLJ37843, DKFZp686K08243

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor 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 chromatin 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 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription 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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    neurotrophin receptor-interacting factor homolog
    Names
    KRAB zinc finger protein HFB101
    zinc finger protein HFB101
    zinc finger protein with KRAB and SCAN domains 19
    zinc finger protein zfp2

    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.

    mRNA and Protein(s)

    1. NM_001278734.2 → NP_001265663.1  neurotrophin receptor-interacting factor homolog isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ZNF274d) has an additional segment in the 5' region, which results in a downstream translation start codon, compared to variant ZNF274c. The resulting isoform (d) has a shorter N-terminus and contains only one KRAB A domain, compared to isoform c.
      Source sequence(s)
      BC009763, CA942346, DC362701, DC366107
      Consensus CDS
      CCDS74475.1
      UniProtKB/TrEMBL
      A0A0A0MR47
      Related
      ENSP00000321209.5, ENST00000326804.8
      Conserved Domains (8) summary
      smart00431
      Location:115 → 227
      SCAN; leucine rich region
      smart00349
      Location:245 → 285
      KRAB; krueppel associated box
      COG5048
      Location:347 → 599
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:523 → 543
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:549 → 571
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:245 → 284
      KRAB; KRAB box
      pfam02023
      Location:115 → 203
      SCAN; SCAN domain
      pfam13465
      Location:563 → 588
      zf-H2C2_2; Zinc-finger double domain

    2. NM_016324.4 → NP_057408.2  neurotrophin receptor-interacting factor homolog isoform b

      See identical proteins and their annotated locations for NP_057408.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ZNF274b) lacks three consecutive exons in the 5' region, which results in a downstream translation start codon, compared to variant ZNF274c. The resulting isoform (b) has a shorter N-terminus and contains only one KRAB A domain, compared to isoform c.
      Source sequence(s)
      AK222855, BC009763, CA942346, DC366107
      Consensus CDS
      CCDS74476.1
      UniProtKB/Swiss-Prot
      Q96GC6
      Related
      ENSP00000409872.3, ENST00000424679.6
      Conserved Domains (6) summary
      COG5048
      Location:284 → 536
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:460 → 480
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:486 → 508
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:181 → 222
      KRAB; KRAB box
      pfam02023
      Location:52 → 138
      SCAN; SCAN domain
      pfam13465
      Location:500 → 525
      zf-H2C2_2; Zinc-finger double domain

    3. NM_016325.4 → NP_057409.1  neurotrophin receptor-interacting factor homolog isoform a

      See identical proteins and their annotated locations for NP_057409.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ZNF274a) lacks one in-frame coding exon, compared to variant ZNF274c. The resulting isoform (a) lacks an internal segment, compared to isoform c. Like isoform c, isoform a contains two KRAB A domains.
      Source sequence(s)
      AB029150, CA942346, DC366107
      Consensus CDS
      CCDS74474.1
      UniProtKB/Swiss-Prot
      Q96GC6
      Related
      ENSP00000321187.5, ENST00000345813.7
      Conserved Domains (8) summary
      smart00431
      Location:125 → 237
      SCAN; leucine rich region
      smart00349
      Location:255 → 295
      KRAB; krueppel associated box
      COG5048
      Location:357 → 612
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:533 → 553
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:559 → 581
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 53
      KRAB; KRAB box
      pfam02023
      Location:125 → 213
      SCAN; SCAN domain
      pfam13465
      Location:573 → 598
      zf-H2C2_2; Zinc-finger double domain

    4. NM_133502.3 → NP_598009.1  neurotrophin receptor-interacting factor homolog isoform c

      See identical proteins and their annotated locations for NP_598009.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ZNF274c) encodes the longest isoform (c). Isoform c contains two KRAB A domains.
      Source sequence(s)
      AB029150, BC009763, CA942346, DC366107
      Consensus CDS
      CCDS74473.1
      UniProtKB/Swiss-Prot
      Q53XU4, Q6MZG1, Q8WY37, Q8WY38, Q92969, Q96GC6, Q9UII0, Q9UII1
      Related
      ENSP00000484810.1, ENST00000617501.5
      Conserved Domains (8) summary
      smart00431
      Location:157 → 269
      SCAN; leucine rich region
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box
      COG5048
      Location:389 → 644
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:565 → 585
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:591 → 613
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 53
      KRAB; KRAB box
      pfam02023
      Location:157 → 245
      SCAN; SCAN domain
      pfam13465
      Location:605 → 630
      zf-H2C2_2; Zinc-finger double domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      58183061..58213562
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438078.1 → XP_047294034.1  neurotrophin receptor-interacting factor homolog isoform X4

    2. XM_011526327.2 → XP_011524629.1  neurotrophin receptor-interacting factor homolog isoform X2

      See identical proteins and their annotated locations for XP_011524629.1

      UniProtKB/Swiss-Prot
      Q96GC6
      Conserved Domains (6) summary
      COG5048
      Location:284 → 536
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:460 → 480
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:486 → 508
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:181 → 222
      KRAB; KRAB box
      pfam02023
      Location:52 → 138
      SCAN; SCAN domain
      pfam13465
      Location:500 → 525
      zf-H2C2_2; Zinc-finger double domain

    3. XM_047438076.1 → XP_047294032.1  neurotrophin receptor-interacting factor homolog isoform X1

      UniProtKB/Swiss-Prot
      Q53XU4, Q6MZG1, Q8WY37, Q8WY38, Q92969, Q96GC6, Q9UII0, Q9UII1

    4. XM_017026175.2 → XP_016881664.1  neurotrophin receptor-interacting factor homolog isoform X4

      UniProtKB/TrEMBL
      B4DMH6

    5. XM_047438075.1 → XP_047294031.1  neurotrophin receptor-interacting factor homolog isoform X1

      UniProtKB/Swiss-Prot
      Q53XU4, Q6MZG1, Q8WY37, Q8WY38, Q92969, Q96GC6, Q9UII0, Q9UII1
      Related
      ENSP00000478533.1, ENST00000610905.4

    6. XM_047438077.1 → XP_047294033.1  neurotrophin receptor-interacting factor homolog isoform X2

    7. XM_011526328.3 → XP_011524630.1  neurotrophin receptor-interacting factor homolog isoform X3

      See identical proteins and their annotated locations for XP_011524630.1

      Conserved Domains (3) summary
      sd00017
      Location:250 → 270
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:276 → 298
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:290 → 315
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. XR_007066543.1 RNA Sequence

    2. XR_001753589.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      61276790..61310024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319567.1 → XP_054175542.1  neurotrophin receptor-interacting factor homolog isoform X1

    2. XM_054319572.1 → XP_054175547.1  neurotrophin receptor-interacting factor homolog isoform X4

    3. XM_054319569.1 → XP_054175544.1  neurotrophin receptor-interacting factor homolog isoform X2

    4. XM_054319568.1 → XP_054175543.1  neurotrophin receptor-interacting factor homolog isoform X1

    5. XM_054319570.1 → XP_054175545.1  neurotrophin receptor-interacting factor homolog isoform X2

    6. XM_054319571.1 → XP_054175546.1  neurotrophin receptor-interacting factor homolog isoform X3

    RNA

    1. XR_008485067.1 RNA Sequence

    2. XR_008485068.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001278735.1: Suppressed sequence

      Description
      NM_001278735.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GC6.2 GenPept UniProtKB/Swiss-Prot:Q96GC6

    Gene LinkOut

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

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