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

Gene ID: 60494, updated on 5-Mar-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, Apr 2022]
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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Location:
11q14.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (86374887..86423106)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (86317381..86365618)
105.20220307 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. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. Maruyama K, et al. Gene, 1994 Jan 28. PMID 8125298

See all (7) 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)

Genotypes

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
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
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_2023_10

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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