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

    Gene ID: 84960, updated on 17-Sep-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
    mouse all
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    Genomic context

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    See CCDC183 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136796338..136807741)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149029219..149041903)
    RS_2024_09 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 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. Multisite phosphorylation dictates selective E2-E3 pairing as revealed by Ubc8/UBE2H-GID/CTLH assemblies. Chrustowicz J, et al. Mol Cell, 2024 Jan 18. PMID 38113892,
    5. 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

    See all (12) 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_2024_08

    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.

    Chemical Information
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