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ZNF510 zinc finger protein 510 [ Homo sapiens (human) ]

Gene ID: 22869, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF510provided by HGNC
Official Full Name
zinc finger protein 510provided by HGNC
Primary source
HGNC:HGNC:29161
See related
Ensembl:ENSG00000081386 MIM:619385; AllianceGenome:HGNC:29161
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
Summary
This gene encodes a krueppel C2H2-type zinc-finger protein family member. The encoded protein is expressed in several cancer cell types and may be a biomarker for early diagnosis of these cancers. [provided by RefSeq, Sep 2015]
Expression
Ubiquitous expression in brain (RPKM 3.5), thyroid (RPKM 3.0) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
9q22.33
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (96754553..96778087, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (108926330..108949865, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (99516835..99540369, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20090 Neighboring gene peroxiredoxin like 2C Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:99428933-99429433 Neighboring gene Sharpr-MPRA regulatory region 12242 Neighboring gene makorin ring finger protein 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20091 Neighboring gene zinc finger protein 782 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20093 Neighboring gene Sharpr-MPRA regulatory region 3853 Neighboring gene cyclin Y like 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28655 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:99636216-99637415 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:99646252-99647451 Neighboring gene prothymosin alpha pseudogene 11

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. Salivary zinc finger protein 510 peptide as a novel biomarker for detection of oral squamous cell carcinoma in early stages. Jou YJ, et al. Clin Chim Acta, 2011 Jul 15. PMID 21497587
  2. Protein microarray signature of autoantibody biomarkers for the early detection of breast cancer. Anderson KS, et al. J Proteome Res, 2011 Jan 7. PMID 20977275, Free PMC Article
  3. Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci. Lei SF, et al. Hum Genet, 2009 Feb. PMID 19030899, Free PMC Article
  4. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 1999 Feb 26. PMID 10231032
  5. Charting the molecular links between driver and susceptibility genes in colorectal cancer. Arroyo R, et al. Biochem Biophys Res Commun, 2014 Mar 21. PMID 24412244

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identifying 24-mer ZNF510 peptide as oral squamous cell carcinoma -related salivary biomarkers via proteomic approach proved useful in adjunct diagnosis for early detection rather than specific diagnosis marker for progression of OSCC patients
    Title: Salivary zinc finger protein 510 peptide as a novel biomarker for detection of oral squamous cell carcinoma in early stages.
  2. The present results suggest that the genomic region containing the ZNP510 and ZNP782 genes is an ethnic specific locus associated with stature variation in Chinese.
    Title: Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.
  3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.
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

EBI GWAS Catalog

Description
Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.
EBI GWAS Catalog

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0972, MGC33740

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 transcription 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
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
zinc finger protein 510

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_001314059.2 → NP_001300988.1  zinc finger protein 510 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AL589843, BC036676, BI467226
    Consensus CDS
    CCDS35074.1
    UniProtKB/Swiss-Prot
    Q5SZP5, Q9Y2H8
    Related
    ENSP00000364379.1, ENST00000375231.5
    Conserved Domains (6) summary
    smart00349
    Location:46 → 105
    KRAB; krueppel associated box
    COG5048
    Location:240 → 663
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:406 → 426
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:404 → 426
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:46 → 85
    KRAB; KRAB box
    pfam13465
    Location:587 → 611
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001314060.2 → NP_001300989.1  zinc finger protein 510 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' UTR which results in the use of a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AL589843, BI467226, DA496439
    Conserved Domains (6) summary
    smart00349
    Location:1 → 43
    KRAB; krueppel associated box
    COG5048
    Location:178 → 601
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:344 → 364
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:342 → 364
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:1 → 23
    KRAB; KRAB box
    pfam13465
    Location:525 → 549
    zf-H2C2_2; Zinc-finger double domain

  3. NM_014930.3 → NP_055745.1  zinc finger protein 510 isoform 1

    See identical proteins and their annotated locations for NP_055745.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AB023189, AL589843, BI467226
    Consensus CDS
    CCDS35074.1
    UniProtKB/Swiss-Prot
    Q5SZP5, Q9Y2H8
    Related
    ENSP00000223428.4, ENST00000223428.9
    Conserved Domains (6) summary
    smart00349
    Location:46 → 105
    KRAB; krueppel associated box
    COG5048
    Location:240 → 663
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:406 → 426
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:404 → 426
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:46 → 85
    KRAB; KRAB box
    pfam13465
    Location:587 → 611
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    96754553..96778087 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251808.3 → XP_005251865.1  zinc finger protein 510 isoform X2

    Conserved Domains (6) summary
    smart00349
    Location:46 → 105
    KRAB; krueppel associated box
    COG5048
    Location:239 → 662
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:405 → 425
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:403 → 425
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:46 → 85
    KRAB; KRAB box
    pfam13465
    Location:586 → 610
    zf-H2C2_2; Zinc-finger double domain

  2. XM_017014483.2 → XP_016869972.1  zinc finger protein 510 isoform X1

    UniProtKB/Swiss-Prot
    Q5SZP5, Q9Y2H8
    Conserved Domains (6) summary
    smart00349
    Location:46 → 105
    KRAB; krueppel associated box
    COG5048
    Location:240 → 663
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:406 → 426
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:404 → 426
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:46 → 85
    KRAB; KRAB box
    pfam13465
    Location:587 → 611
    zf-H2C2_2; Zinc-finger double domain

  3. XM_047423005.1 → XP_047278961.1  zinc finger protein 510 isoform X2

  4. XM_011518393.3 → XP_011516695.1  zinc finger protein 510 isoform X3

    See identical proteins and their annotated locations for XP_011516695.1

    Conserved Domains (6) summary
    smart00349
    Location:1 → 43
    KRAB; krueppel associated box
    COG5048
    Location:178 → 601
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:344 → 364
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:342 → 364
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:1 → 23
    KRAB; KRAB box
    pfam13465
    Location:525 → 549
    zf-H2C2_2; Zinc-finger double domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    108926330..108949865 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362386.1 → XP_054218361.1  zinc finger protein 510 isoform X2

  2. XM_054362385.1 → XP_054218360.1  zinc finger protein 510 isoform X1

    UniProtKB/Swiss-Prot
    Q5SZP5, Q9Y2H8

  3. XM_054362387.1 → XP_054218362.1  zinc finger protein 510 isoform X2

  4. XM_054362388.1 → XP_054218363.1  zinc finger protein 510 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y2H8.1 GenPept UniProtKB/Swiss-Prot:Q9Y2H8

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