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ZNF551 zinc finger protein 551 [ Homo sapiens (human) ]

Gene ID: 90233, updated on 2-Nov-2024

Summary

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Official Symbol
ZNF551provided by HGNC
Official Full Name
zinc finger protein 551provided by HGNC
Primary source
HGNC:HGNC:25108
See related
Ensembl:ENSG00000204519 AllianceGenome:HGNC:25108
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 2.9), testis (RPKM 2.8) and 25 other tissues See more
Orthologs
all
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Genomic context

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See ZNF551 in Genome Data Viewer
Location:
19q13.43
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (57681977..57690648)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (60778907..60787580)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58193345..58202016)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11078 Neighboring gene zinc finger protein 211 Neighboring gene MPRA-validated peak3574 silencer Neighboring gene zinc finger and SCAN domain containing 4 Neighboring gene tumor protein p63 regulated 1 like pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58193037-58193660 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11079 Neighboring gene zinc finger protein 154 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58220160-58220799 Neighboring gene uncharacterized LOC124904783

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. Multiple genes encoding zinc finger domains are expressed in human T cells. Thiesen HJ. New Biol, 1990 Apr. PMID 2288909
  2. Large-scale characterization of HeLa cell nuclear phosphoproteins. Beausoleil SA, et al. Proc Natl Acad Sci U S A, 2004 Aug 17. PMID 15302935, Free PMC Article
  3. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049
  4. The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery. Kumar R, et al. Nat Commun, 2017 Nov 27. PMID 29180619, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: ZNF776

Homology

Clone Names

  • MGC52307, DKFZp686H1038

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 metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
zinc finger protein 551
Names
KOX 23 protein (56 AA)
zinc finger protein KOX23

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_001270938.2 → NP_001257867.1  zinc finger protein 551 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site at the 3' end of the first exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC004017, AK307670, BC005868
    UniProtKB/Swiss-Prot
    Q7Z340
    Related
    ENSP00000472674.1, ENST00000601064.1
    Conserved Domains (5) summary
    smart00349
    Location:1 → 43
    KRAB; krueppel associated box
    COG5048
    Location:251 → 596
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:561 → 581
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:1 → 40
    KRAB; KRAB box
    pfam13465
    Location:601 → 626
    zf-H2C2_2; Zinc-finger double domain

  2. NM_138347.5 → NP_612356.2  zinc finger protein 551 isoform 1

    See identical proteins and their annotated locations for NP_612356.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC004017, AK307670, BC005868
    Consensus CDS
    CCDS12959.2
    UniProtKB/Swiss-Prot
    B4DU22, P17034, Q7Z340, Q8N246, Q9BRY1
    Related
    ENSP00000282296.5, ENST00000282296.10
    Conserved Domains (5) summary
    smart00349
    Location:29 → 71
    KRAB; krueppel associated box
    COG5048
    Location:279 → 624
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:589 → 609
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:29 → 68
    KRAB; KRAB box
    pfam13465
    Location:629 → 654
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_073102.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon compared to variant 1. The resulting transcript has an overlapping upstream ORF with a strong Kozak signal, making this a candidate for nonsense-mediated mRNA decay (NMD). Therefore, it is unlikely that this variant encodes a protein.
    Source sequence(s)
    AC004017, AK300465, AK307670, BC005868

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
    57681977..57690648
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    60778907..60787580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z340.3 GenPept UniProtKB/Swiss-Prot:Q7Z340

Gene LinkOut

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