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

Gene ID: 160762, updated on 25-Jan-2022

Summary

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, Nov 2021]
Expression
Restricted expression toward testis (RPKM 6.9) See more
Orthologs
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Genomic context

See CCDC63 in Genome Data Viewer
Location:
12q24.11
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (110844489..110907535)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111284791..111345339)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr12.3641 Neighboring gene ribosomal protein L29 pseudogene 25 Neighboring gene VISTA enhancer hs2149 Neighboring gene myosin light chain 2 Neighboring gene VISTA enhancer hs2493

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
involved_in outer dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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_001286243.2NP_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:13381
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  2. NM_001286244.2NP_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/Swiss-Prot
    Q8NA47
    UniProtKB/TrEMBL
    G3V217
    Related
    ENSP00000450217.1, ENST00000552694.1
    Conserved Domains (1) summary
    pfam16046
    Location:22106
    FAM76; FAM76 protein
  3. NM_152591.3NP_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
    Q8NA47
    Related
    ENSP00000312399.5, ENST00000308208.10
    Conserved Domains (1) summary
    COG1196
    Location:53296
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    110844489..110907535
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538001.2XP_011536303.1  coiled-coil domain-containing protein 63 isoform X1

    See identical proteins and their annotated locations for XP_011536303.1

    UniProtKB/Swiss-Prot
    Q8NA47
    Conserved Domains (1) summary
    COG1196
    Location:53296
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  2. XM_006719262.1XP_006719325.1  coiled-coil domain-containing protein 63 isoform X1

    See identical proteins and their annotated locations for XP_006719325.1

    UniProtKB/Swiss-Prot
    Q8NA47
    Conserved Domains (1) summary
    COG1196
    Location:53296
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  3. XM_006719263.2XP_006719326.1  coiled-coil domain-containing protein 63 isoform X2

    Conserved Domains (1) summary
    cl19219
    Location:61139
    DUF342; Protein of unknown function (DUF342)
  4. XM_011537999.1XP_011536301.1  coiled-coil domain-containing protein 63 isoform X1

    See identical proteins and their annotated locations for XP_011536301.1

    UniProtKB/Swiss-Prot
    Q8NA47
    Conserved Domains (1) summary
    COG1196
    Location:53296
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
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