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    CCDC63 coiled-coil domain containing 63 [ Homo sapiens (human) ]

    Gene ID: 160762, updated on 17-Jun-2024

    Summary

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    Official Symbol
    CCDC63provided by HGNC
    Official Full Name
    coiled-coil domain containing 63provided by HGNC
    Primary source
    HGNC:HGNC:26669
    See related
    Ensembl:ENSG00000173093 MIM:617969; AllianceGenome:HGNC:26669
    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
    ODA5
    Summary
    Predicted to be involved in cilium movement; outer dynein arm assembly; and spermatid development. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 6.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC63 in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110844486..110907535)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110822299..110886718)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111284791..111345339)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 catalytic subunit gamma Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111180421-111180929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:111181691-111182275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7027 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:111218408-111218569 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3641 Neighboring gene NANOG hESC enhancer GRCh37_chr12:111246997-111247498 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:111251419-111251918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7028 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:111290753-111291952 Neighboring gene ribosomal protein L29 pseudogene 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:111298099-111298599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111355215-111355716 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111355717-111356216 Neighboring gene VISTA enhancer hs2149 Neighboring gene VISTA enhancer hs2493 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111373669-111374362 Neighboring gene Sharpr-MPRA regulatory region 3484 Neighboring gene myosin light chain 2 Neighboring gene long intergenic non-protein coding RNA 1405

    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. Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population. Takeuchi F, et al. Circ J, 2011. PMID 21372407
    2. Common variants at 12q24 are associated with drinking behavior in Han Chinese. Yang X, et al. Am J Clin Nutr, 2013 Mar. PMID 23364009
    3. Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men. Baik I, et al. Am J Clin Nutr, 2011 Apr. PMID 21270382
    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 (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
    Common variants at 12q24 are associated with drinking behavior in Han Chinese.
    EBI GWAS Catalog
    Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population.
    EBI GWAS Catalog
    Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
    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

    • FLJ35843

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in outer dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatid development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 63
    Names
    outer row dynein assembly 5 homolog

    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_001286243.2 → NP_001273172.1  coiled-coil domain-containing protein 63 isoform 2

      See identical proteins and their annotated locations for NP_001273172.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK302207, BC064580, DB036197
      Consensus CDS
      CCDS66470.1
      UniProtKB/Swiss-Prot
      Q8NA47
      Related
      ENSP00000445881.1, ENST00000545036.5
      Conserved Domains (1) summary
      COG1196
      Location:13 → 381
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    2. NM_001286244.2 → NP_001273173.1  coiled-coil domain-containing protein 63 isoform 3

      See identical proteins and their annotated locations for NP_001273173.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK302207, BC064580, DB036197
      Consensus CDS
      CCDS73528.1
      UniProtKB/TrEMBL
      G3V217
      Related
      ENSP00000450217.1, ENST00000552694.1
      Conserved Domains (1) summary
      pfam16046
      Location:22 → 106
      FAM76; FAM76 protein

    3. NM_152591.3 → NP_689804.1  coiled-coil domain-containing protein 63 isoform 1

      See identical proteins and their annotated locations for NP_689804.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK093162, AK302207, BC064580, DB036197
      Consensus CDS
      CCDS9151.1
      UniProtKB/Swiss-Prot
      B4DY03, Q0P603, Q6P2E1, Q8NA47
      Related
      ENSP00000312399.5, ENST00000308208.10
      Conserved Domains (1) summary
      COG1196
      Location:53 → 296
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      110844486..110907535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538001.3 → XP_011536303.1  coiled-coil domain-containing protein 63 isoform X1

      See identical proteins and their annotated locations for XP_011536303.1

      UniProtKB/Swiss-Prot
      B4DY03, Q0P603, Q6P2E1, Q8NA47
      Conserved Domains (1) summary
      COG1196
      Location:53 → 296
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    2. XM_011537999.2 → XP_011536301.1  coiled-coil domain-containing protein 63 isoform X1

      See identical proteins and their annotated locations for XP_011536301.1

      UniProtKB/Swiss-Prot
      B4DY03, Q0P603, Q6P2E1, Q8NA47
      Conserved Domains (1) summary
      COG1196
      Location:53 → 296
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    3. XM_047428443.1 → XP_047284399.1  coiled-coil domain-containing protein 63 isoform X1

      UniProtKB/Swiss-Prot
      B4DY03, Q0P603, Q6P2E1, Q8NA47

    4. XM_006719263.3 → XP_006719326.1  coiled-coil domain-containing protein 63 isoform X2

      Conserved Domains (1) summary
      cl19219
      Location:61 → 139
      DUF342; Protein of unknown function (DUF342)

    5. XM_047428442.1 → XP_047284398.1  coiled-coil domain-containing protein 63 isoform X1

      UniProtKB/Swiss-Prot
      B4DY03, Q0P603, Q6P2E1, Q8NA47

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      110822299..110886718
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371298.1 → XP_054227273.1  coiled-coil domain-containing protein 63 isoform X1

      UniProtKB/Swiss-Prot
      B4DY03, Q0P603, Q6P2E1, Q8NA47

    2. XM_054371296.1 → XP_054227271.1  coiled-coil domain-containing protein 63 isoform X1

      UniProtKB/Swiss-Prot
      B4DY03, Q0P603, Q6P2E1, Q8NA47

    3. XM_054371297.1 → XP_054227272.1  coiled-coil domain-containing protein 63 isoform X1

      UniProtKB/Swiss-Prot
      B4DY03, Q0P603, Q6P2E1, Q8NA47

    4. XM_054371299.1 → XP_054227274.1  coiled-coil domain-containing protein 63 isoform X2

    5. XM_054371295.1 → XP_054227270.1  coiled-coil domain-containing protein 63 isoform X1

      UniProtKB/Swiss-Prot
      B4DY03, Q0P603, Q6P2E1, Q8NA47
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NA47.1 GenPept UniProtKB/Swiss-Prot:Q8NA47

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