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    CCDC190 coiled-coil domain containing 190 [ Homo sapiens (human) ]

    Gene ID: 339512, updated on 17-Sep-2024

    Summary

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    Official Symbol
    CCDC190provided by HGNC
    Official Full Name
    coiled-coil domain containing 190provided by HGNC
    Primary source
    HGNC:HGNC:28736
    See related
    Ensembl:ENSG00000185860 AllianceGenome:HGNC:28736
    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
    C1orf110
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC190 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (162851020..162868833, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (162195581..162213515, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (162820810..162838623, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene discoidin domain receptor tyrosine kinase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1495 Neighboring gene MPRA-validated peak435 silencer Neighboring gene RNA, 7SL, cytoplasmic 861, pseudogene Neighboring gene hydroxysteroid 17-beta dehydrogenase 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162792375-162792980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2012 Neighboring gene Sharpr-MPRA regulatory region 14373 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:162947871-162948547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:162948548-162949223 Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial-like Neighboring gene NANOG hESC enhancer GRCh37_chr1:162971378-162971879 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:163005147-163006346 Neighboring gene uncharacterized LOC107985223

    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. Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of type 2 diabetes with cataract. Lin HJ, et al. Mol Vis, 2010 Jul 1. PMID 20664687, Free PMC Article
    2. Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. Peters U, et al. Gastroenterology, 2013 Apr. PMID 23266556, Free PMC Article
    3. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. Ehret GB, et al. Eur J Hum Genet, 2009 Dec. PMID 19536175, Free PMC Article
    4. 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
    5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Single-nucleotide polymorphisms in chromosome 3p14.1- 3p14.2 are associated with susceptibility of type 2 diabetes with cataract.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
    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

    EBI GWAS Catalog

    Description
    Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
    EBI GWAS Catalog

    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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    Homology

    Clone Names

    • FLJ41579, MGC48998

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 190

    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_001394065.1 → NP_001380994.1  coiled-coil domain-containing protein 190 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL392003
      Consensus CDS
      CCDS91094.1
      UniProtKB/TrEMBL
      A0A8J8YXK0
      Related
      ENSP00000356888.3, ENST00000367912.7
      Conserved Domains (1) summary
      pfam15768
      Location:9 → 276
      CC190; Coiled-coil domain-containing protein 190

    2. NM_178550.6 → NP_848645.3  coiled-coil domain-containing protein 190 isoform 2

      See identical proteins and their annotated locations for NP_848645.3

      Status: VALIDATED

      Source sequence(s)
      AK123573, AL392003, BC040018
      Consensus CDS
      CCDS44269.1
      UniProtKB/Swiss-Prot
      Q5JSG1, Q6ZW57, Q86UF4
      Related
      ENSP00000356886.1, ENST00000367910.5
      Conserved Domains (1) summary
      pfam15768
      Location:9 → 277
      DUF4697; Domain of unknown function (DUF4697)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      162851020..162868833 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      162195581..162213515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86UF4.2 GenPept UniProtKB/Swiss-Prot:Q86UF4

    Gene LinkOut

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

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