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    ZC2HC1C zinc finger C2HC-type containing 1C [ Homo sapiens (human) ]

    Gene ID: 79696, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZC2HC1Cprovided by HGNC
    Official Full Name
    zinc finger C2HC-type containing 1Cprovided by HGNC
    Primary source
    HGNC:HGNC:20354
    See related
    Ensembl:ENSG00000119703 AllianceGenome:HGNC:20354
    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
    FAM164C; C14orf140
    Summary
    Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 18.3), thyroid (RPKM 2.1) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZC2HC1C in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (75069641..75079988)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69279032..69289387)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (75536344..75546691)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 689, pseudogene Neighboring gene mutL homolog 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8735 Neighboring gene acylphosphatase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75535987-75536538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75536539-75537090 Neighboring gene NIMA related kinase 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:75565767-75565964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8737 Neighboring gene HIF1AP pseudogene 1 Neighboring gene transmembrane p24 trafficking protein 10 Neighboring gene Sharpr-MPRA regulatory regions 714 and 744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75619067-75619731 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:75643139-75643711

    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. Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing. Qiao Y, et al. Ophthalmic Genet, 2023 Apr. PMID 36193031
    2. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    3. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
    4. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article
    5. Interpreting cancer genomes using systematic host network perturbations by tumour virus proteins. Rozenblatt-Rosen O, et al. Nature, 2012 Jul 26. PMID 22810586, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing.
      Title: Screening of candidate genes at GLC3B and GLC3C loci in Chinese primary congenital glaucoma patients with targeted next generation sequencing.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23093

    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 1C
    Names
    family with sequence similarity 164, member C
    protein FAM164C

    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_001042430.3 → NP_001035895.1  zinc finger C2HC domain-containing protein 1C isoform b

      See identical proteins and their annotated locations for NP_001035895.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (b) has a shorter C-terminus than isoform a.
      Source sequence(s)
      AK026746, AK223359, AL049780, HY031397
      Consensus CDS
      CCDS45138.1
      UniProtKB/TrEMBL
      H0YE08
      Related
      ENSP00000390606.2, ENST00000439583.2

    2. NM_001330191.2 → NP_001317120.1  zinc finger C2HC domain-containing protein 1C isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (c) has a shorter C-terminus than isoform a.
      Source sequence(s)
      AL049780
      Consensus CDS
      CCDS81829.1
      UniProtKB/TrEMBL
      A0A669KB15, J3KMY6
      Related
      ENSP00000238686.8, ENST00000238686.8

    3. NM_024643.4 → NP_078919.2  zinc finger C2HC domain-containing protein 1C isoform a

      See identical proteins and their annotated locations for NP_078919.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AK026746, AK223359, AL049780, HY031397
      Consensus CDS
      CCDS41972.1
      UniProtKB/Swiss-Prot
      E9PJQ0, Q53FD0, Q9BTA8, Q9H5S9
      UniProtKB/TrEMBL
      B4E1K6
      Related
      ENSP00000435550.1, ENST00000524913.3
      Conserved Domains (1) summary
      pfam13913
      Location:387 → 411
      zf-C2HC_2; zinc-finger of a C2HC-type

    RNA

    1. NR_110315.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AK026746, AK223359, AL049780, BX110341, HY031397

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      75069641..75079988
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537155.3 → XP_011535457.1  zinc finger C2HC domain-containing protein 1C isoform X1

      See identical proteins and their annotated locations for XP_011535457.1

      UniProtKB/Swiss-Prot
      E9PJQ0, Q53FD0, Q9BTA8, Q9H5S9
      UniProtKB/TrEMBL
      B4E1K6
      Related
      ENSP00000501056.1, ENST00000674086.1
      Conserved Domains (1) summary
      pfam13913
      Location:387 → 411
      zf-C2HC_2; zinc-finger of a C2HC-type

    2. XM_005268062.4 → XP_005268119.1  zinc finger C2HC domain-containing protein 1C isoform X1

      See identical proteins and their annotated locations for XP_005268119.1

      UniProtKB/Swiss-Prot
      E9PJQ0, Q53FD0, Q9BTA8, Q9H5S9
      UniProtKB/TrEMBL
      B4E1K6
      Conserved Domains (1) summary
      pfam13913
      Location:387 → 411
      zf-C2HC_2; zinc-finger of a C2HC-type

    3. XM_011537156.3 → XP_011535458.1  zinc finger C2HC domain-containing protein 1C isoform X1

      See identical proteins and their annotated locations for XP_011535458.1

      UniProtKB/Swiss-Prot
      E9PJQ0, Q53FD0, Q9BTA8, Q9H5S9
      UniProtKB/TrEMBL
      B4E1K6
      Conserved Domains (1) summary
      pfam13913
      Location:387 → 411
      zf-C2HC_2; zinc-finger of a C2HC-type

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      69279032..69289387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376717.1 → XP_054232692.1  zinc finger C2HC domain-containing protein 1C isoform X1

      UniProtKB/TrEMBL
      B4E1K6

    2. XM_054376715.1 → XP_054232690.1  zinc finger C2HC domain-containing protein 1C isoform X1

      UniProtKB/TrEMBL
      B4E1K6

    3. XM_054376716.1 → XP_054232691.1  zinc finger C2HC domain-containing protein 1C isoform X1

      UniProtKB/TrEMBL
      B4E1K6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53FD0.3 GenPept UniProtKB/Swiss-Prot:Q53FD0

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