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

    Gene ID: 55017, updated on 28-Oct-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, Oct 2024]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 9.1), thyroid (RPKM 8.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C14orf119 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23095505..23100456)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17296149..17301091)
    RS_2024_09 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

    Expression

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    • Project title: HPA RNA-seq normal tissues 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. 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. PRISMA: Protein Interaction Screen on Peptide Matrix Reveals Interaction Footprints and Modifications- Dependent Interactome of Intrinsically Disordered C/EBPβ. Dittmar G, et al. iScience, 2019 Mar 29. PMID 30884312, Free PMC Article
    5. 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

    See all (13) 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_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
      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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