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

Gene ID: 79696, updated on 3-Apr-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, Apr 2022]
Expression
Biased expression in testis (RPKM 18.3), thyroid (RPKM 2.1) and 2 other tissues See more
Orthologs
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Genomic context

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Location:
14q24.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (75069641..75079988)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69279032..69289387)
105.20220307 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 (17) 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)

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

  • 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_2023_10

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

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

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

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

Gene LinkOut

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