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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
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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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