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    ZC2HC1A zinc finger C2HC-type containing 1A [ Homo sapiens (human) ]

    Gene ID: 51101, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZC2HC1Aprovided by HGNC
    Official Full Name
    zinc finger C2HC-type containing 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:24277
    See related
    Ensembl:ENSG00000104427 AllianceGenome:HGNC:24277
    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
    Also known as
    CGI-62; C8orf70; FAM164A
    Summary
    Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 5.6), thyroid (RPKM 3.9) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZC2HC1A in Genome Data Viewer
    Location:
    8q21.13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (78666089..78719765)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (79097623..79151232)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (79578324..79632000)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375911 Neighboring gene RNA, U6 small nuclear 1220, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:79350973-79351621 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:79357423-79358019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27545 Neighboring gene PKIA antisense RNA 1 Neighboring gene cAMP-dependent protein kinase inhibitor alpha Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:79577447-79577955 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:79577956-79578463 Neighboring gene interleukin 7 Neighboring gene C4orf46 pseudogene 3 Neighboring gene THAP domain containing 12 pseudogene 7

    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. A new role for FBP21 as regulator of Brr2 helicase activity. Henning LM, et al. Nucleic Acids Res, 2017 Jul 27. PMID 28838205, Free PMC Article
    2. Impact of WIN site inhibitor on the WDR5 interactome. Guarnaccia AD, et al. Cell Rep, 2021 Jan 19. PMID 33472061, Free PMC Article
    3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Lai CH, et al. Genome Res, 2000 May. PMID 10810093, Free PMC Article
    4. Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC. Zeng H, et al. Elife, 2019 Nov 19. PMID 31741433, Free PMC Article
    5. Protein array based interactome analysis of amyloid-β indicates an inhibition of protein translation. Virok DP, et al. J Proteome Res, 2011 Apr 1. PMID 21244100

    See all (37) 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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger C2HC domain-containing protein 1A
    Names
    family with sequence similarity 164, member A
    protein FAM164A

    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_001362969.2 → NP_001349898.1  zinc finger C2HC domain-containing protein 1A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC100854, AK313723, BI600862, BU075578, DA137885
      Consensus CDS
      CCDS94321.1
      UniProtKB/TrEMBL
      B2R9B8, H0YAP0
      Related
      ENSP00000427797.2, ENST00000519307.2
      Conserved Domains (1) summary
      pfam13913
      Location:15 → 39
      zf-C2HC_2; zinc-finger of a C2HC-type

    2. NM_016010.3 → NP_057094.2  zinc finger C2HC domain-containing protein 1A isoform 1

      See identical proteins and their annotated locations for NP_057094.2

      Status: VALIDATED

      Source sequence(s)
      AC100854, AK313723, BU075578, DA137885
      Consensus CDS
      CCDS6223.1
      UniProtKB/Swiss-Prot
      Q96GY0, Q9Y372
      UniProtKB/TrEMBL
      B2R9B8
      Related
      ENSP00000263849.3, ENST00000263849.9
      Conserved Domains (1) summary
      pfam13913
      Location:15 → 39
      zf-C2HC_2; zinc-finger of a C2HC-type

    RNA

    1. NR_156423.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC100854, AK313723, BI600862, BU075578, DA137885

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      78666089..78719765
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517539.4 → XP_011515841.1  zinc finger C2HC domain-containing protein 1A isoform X1

      UniProtKB/TrEMBL
      A0A994J7X1
      Related
      ENSP00000516191.1, ENST00000705981.1
      Conserved Domains (1) summary
      pfam13913
      Location:15 → 39
      zf-C2HC_2; zinc-finger of a C2HC-type

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      79097623..79151232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360552.1 → XP_054216527.1  zinc finger C2HC domain-containing protein 1A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GY0.2 GenPept UniProtKB/Swiss-Prot:Q96GY0

    Gene LinkOut

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

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