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C14orf119 chromosome 14 open reading frame 119 [ Homo sapiens (human) ]

Gene ID: 55017, updated on 5-Mar-2024

Summary

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Official Symbol
C14orf119provided by HGNC
Official Full Name
chromosome 14 open reading frame 119provided by HGNC
Primary source
HGNC:HGNC:20270
See related
Ensembl:ENSG00000179933 AllianceGenome:HGNC:20270
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
Summary
Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in urinary bladder (RPKM 9.1), thyroid (RPKM 8.5) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
14q11.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23095505..23100456)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17296149..17301091)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23564714..23569665)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene collagen alpha-2(I) chain-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5601 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:23530845-23532044 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23537671-23538195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8160 Neighboring gene apoptotic chromatin condensation inducer 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8161 Neighboring gene uncharacterized LOC124903288 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:23547601-23548800 Neighboring gene hESC enhancers GRCh37_chr14:23564101-23564624 and GRCh37_chr14:23564625-23565148 Neighboring gene Sharpr-MPRA regulatory region 2207 Neighboring gene ciliated left-right organizer metallopeptidase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23583091-23583809 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:23583975-23585174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23589263-23589793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23592799-23593298 Neighboring gene CCAAT enhancer binding protein epsilon Neighboring gene solute carrier family 7 member 8 Neighboring gene Sharpr-MPRA regulatory region 2117 Neighboring gene RNA, U6 small nuclear 1138, pseudogene

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. Influence of the rs6736 Polymorphism on Ischemic Stroke Susceptibility in Han Chinese Individuals via the Disruption of miR-7-1 Binding to the C14orf119 Gene. Guo X, et al. J Mol Neurosci, 2022 Mar. PMID 34510374
  2. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. Dart AE, et al. J Cell Biol, 2015 Nov 23. PMID 26598620, Free PMC Article
  3. A human protein-protein interaction network: a resource for annotating the proteome. Stelzl U, et al. Cell, 2005 Sep 23. PMID 16169070
  4. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. Kırlı K, et al. Elife, 2015 Dec 17. PMID 26673895, Free PMC Article
  5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Influence of the rs6736 Polymorphism on Ischemic Stroke Susceptibility in Han Chinese Individuals via the Disruption of miR-7-1 Binding to the C14orf119 Gene.
    Title: Influence of the rs6736 Polymorphism on Ischemic Stroke Susceptibility in Han Chinese Individuals via the Disruption of miR-7-1 Binding to the C14orf119 Gene.
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

  • FLJ20671, FLJ21141, MGC74723

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
uncharacterized protein C14orf119
Names
My028 protein

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_017924.4 → NP_060394.1  uncharacterized protein C14orf119

    See identical proteins and their annotated locations for NP_060394.1

    Status: VALIDATED

    Source sequence(s)
    AL117258, BC009645, BC061637, DA605680
    Consensus CDS
    CCDS9588.1
    UniProtKB/Swiss-Prot
    Q6IAA7, Q9NWQ9
    Related
    ENSP00000322238.4, ENST00000319074.6
    Conserved Domains (1) summary
    pfam14969
    Location:36 → 133
    DUF4508; Domain of unknown function (DUF4508)

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
    23095505..23100456
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021390.3 → XP_016876879.1  uncharacterized protein C14orf119 isoform X1

    UniProtKB/Swiss-Prot
    Q6IAA7, Q9NWQ9
    Conserved Domains (1) summary
    pfam14969
    Location:36 → 133
    DUF4508; Domain of unknown function (DUF4508)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    17296149..17301091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376280.1 → XP_054232255.1  uncharacterized protein C14orf119 isoform X1

    UniProtKB/Swiss-Prot
    Q6IAA7, Q9NWQ9
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NWQ9.1 GenPept UniProtKB/Swiss-Prot:Q9NWQ9

Gene LinkOut

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

Chemical Information
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