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    CCDC81 coiled-coil domain containing 81 [ Homo sapiens (human) ]

    Gene ID: 60494, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC81provided by HGNC
    Official Full Name
    coiled-coil domain containing 81provided by HGNC
    Primary source
    HGNC:HGNC:26281
    See related
    Ensembl:ENSG00000149201 AllianceGenome:HGNC:26281
    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 centrosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis (RPKM 3.8), lung (RPKM 1.0) and 6 other tissues See more
    Orthologs
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    Genomic context

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    See CCDC81 in Genome Data Viewer
    Location:
    11q14.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (86374887..86423106)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (86317381..86365618)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (86085929..86134148)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene SET pseudogene 17 Neighboring gene heat shock protein nuclear import factor hikeshi Neighboring gene uncharacterized LOC105369421 Neighboring gene RNA, 7SL, cytoplasmic 225, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:86067691-86068225 Neighboring gene Sharpr-MPRA regulatory region 8024 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:86153050-86154249 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:86158730-86158943 Neighboring gene PTP4A1 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:86171015-86171543 Neighboring gene malic enzyme 3 Neighboring gene Sharpr-MPRA regulatory region 11231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:86208417-86209018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:86209019-86209620 Neighboring gene MPRA-validated peak1375 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3827 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:86234525-86235724 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:86270243-86270744 Neighboring gene MPRA-validated peak1376 silencer

    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. Novel clades of the HU/IHF superfamily point to unexpected roles in the eukaryotic centrosome, chromosome partitioning, and biologic conflicts. Burroughs AM, et al. Cell Cycle, 2017 Jun 3. PMID 28441108, Free PMC Article
    2. SCIMP, a transmembrane adaptor protein involved in major histocompatibility complex class II signaling. Draber P, et al. Mol Cell Biol, 2011 Nov. PMID 21930792, Free PMC Article
    3. Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. Firat-Karalar EN, et al. J Cell Sci, 2014 Oct 1. PMID 25074808, Free PMC Article
    4. Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. Kottyan LC, et al. Nat Genet, 2014 Aug. PMID 25017104, Free PMC Article
    5. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16339, FLJ23514

    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 centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 81

    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_001156474.2 → NP_001149946.1  coiled-coil domain-containing protein 81 isoform 1

      See identical proteins and their annotated locations for NP_001149946.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK131331, AP001148, BC126412
      Consensus CDS
      CCDS53691.1
      UniProtKB/Swiss-Prot
      A0AVL7, Q53FW3, Q6ZN84, Q9H5E5
      Related
      ENSP00000415528.2, ENST00000445632.7
      Conserved Domains (1) summary
      pfam14908
      Location:29 → 158
      DUF4496; Domain of unknown function (DUF4496)

    2. NM_021827.5 → NP_068599.3  coiled-coil domain-containing protein 81 isoform 2

      See identical proteins and their annotated locations for NP_068599.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region and lacks a coding exon compared to variant 1. It encodes isoform 2, which is shorter compared to isoform 1.
      Source sequence(s)
      AK131331, AP001148
      Consensus CDS
      CCDS8276.1
      UniProtKB/Swiss-Prot
      Q6ZN84
      Related
      ENSP00000346800.1, ENST00000354755.5
      Conserved Domains (1) summary
      pfam14908
      Location:6 → 93
      DUF4496; Domain of unknown function (DUF4496)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      86374887..86423106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      86317381..86365618
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZN84.2 GenPept UniProtKB/Swiss-Prot:Q6ZN84

    Gene LinkOut

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

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