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CCDC183 coiled-coil domain containing 183 [ Homo sapiens (human) ]

Gene ID: 84960, updated on 5-Mar-2024

Summary

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Official Symbol
CCDC183provided by HGNC
Official Full Name
coiled-coil domain containing 183provided by HGNC
Primary source
HGNC:HGNC:28236
See related
Ensembl:ENSG00000213213 MIM:615955; AllianceGenome:HGNC:28236
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
PARF; KIAA1984; bA216L13.7
Expression
Broad expression in testis (RPKM 17.0), prostate (RPKM 9.5) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
9q34.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136796338..136807741)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149029219..149041903)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139690790..139702193)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 3 Neighboring gene CRISPRi-validated cis-regulatory element chr9.4332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20540 Neighboring gene transmembrane protein 141 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139690211-139690712 Neighboring gene Sharpr-MPRA regulatory region 12102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139693993-139694696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:139695381-139695908 Neighboring gene CCDC183 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:139701344-139701939 and GRCh37_chr9:139701940-139702536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20547 Neighboring gene iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene Neighboring gene RAB, member RAS oncogene family like 6 Neighboring gene nucleolin pseudogene 1

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. Identification of novel ARF binding proteins by two-hybrid screening. Tompkins V, et al. Cell Cycle, 2006 Mar. PMID 16582619
  2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
  3. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. Casabonne D, et al. Haematologica, 2011 Feb. PMID 21048031, Free PMC Article
  4. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
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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Homology

Clone Names

  • KIAA1984, MGC15438

General protein information

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Preferred Names
coiled-coil domain-containing protein 183

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_001039374.5 → NP_001034463.4  coiled-coil domain-containing protein 183

    See identical proteins and their annotated locations for NP_001034463.4

    Status: VALIDATED

    Source sequence(s)
    AW572474, BC007542, BC137318, DA235138, DB446839
    Consensus CDS
    CCDS43906.1
    UniProtKB/Swiss-Prot
    B2RP89, C9JD38, Q5T5S1, Q6P2D9, Q8NAI4, Q8TF18
    Related
    ENSP00000338013.6, ENST00000338005.7
    Conserved Domains (1) summary
    COG4310
    Location:8 → 137
    COG4310; Uncharacterized protein, cotains an aminopeptidase-like domain [General function prediction only]

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    136796338..136807741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    149029219..149041903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032874.2: Suppressed sequence

    Description
    NM_032874.2: This RefSeq was permanently suppressed because it contained intronic sequence and was a nonsense-mediated mRNA candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5T5S1.3 GenPept UniProtKB/Swiss-Prot:Q5T5S1

Gene LinkOut

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

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