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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

    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

    Gene LinkOut

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

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