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CCDC13 coiled-coil domain containing 13 [ Homo sapiens (human) ]

Gene ID: 152206, updated on 5-Jan-2022

Summary

Official Symbol
CCDC13provided by HGNC
Official Full Name
coiled-coil domain containing 13provided by HGNC
Primary source
HGNC:HGNC:26358
See related
Ensembl:ENSG00000244607
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
Involved in cellular response to DNA damage stimulus; cytoplasmic microtubule organization; and non-motile cilium assembly. Located in centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Biased expression in testis (RPKM 1.5), brain (RPKM 0.5) and 10 other tissues See more
Orthologs
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Genomic context

See CCDC13 in Genome Data Viewer
Location:
3p22.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (42704118..42773253, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (42747248..42814745, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene kelch like family member 40 Neighboring gene hedgehog acyltransferase like Neighboring gene HHATL antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 2509 Neighboring gene CCDC13 antisense RNA 1 Neighboring gene CCDC13 antisense RNA 2 Neighboring gene HIG1 hypoxia inducible domain family member 1A Neighboring gene MIX23 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 10622 Neighboring gene atypical chemokine receptor 2

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
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
EBI GWAS Catalog
Genome-wide association study of chronic periodontitis in a general German population.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25467

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cytoplasmic microtubule organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cytoplasmic microtubule organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in non-motile cilium assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in centriolar satellite IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centriolar satellite IDA
Inferred from Direct Assay
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 13

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_144719.4NP_653320.3  coiled-coil domain-containing protein 13

    See identical proteins and their annotated locations for NP_653320.3

    Status: VALIDATED

    Source sequence(s)
    AC006059, AK058196, BC036050, BM664398
    Consensus CDS
    CCDS2705.1
    UniProtKB/Swiss-Prot
    Q8IYE1
    UniProtKB/TrEMBL
    Q96LI1
    Related
    ENSP00000309836.6, ENST00000310232.11
    Conserved Domains (2) summary
    COG1196
    Location:76444
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    TIGR02168
    Location:316612
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    42704118..42773253 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533418.2XP_011531720.1  coiled-coil domain-containing protein 13 isoform X2

    Conserved Domains (1) summary
    COG1196
    Location:76444
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  2. XM_005264898.3XP_005264955.1  coiled-coil domain-containing protein 13 isoform X1

    Conserved Domains (1) summary
    COG1196
    Location:76444
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  3. XM_017005781.1XP_016861270.1  coiled-coil domain-containing protein 13 isoform X3

    Conserved Domains (1) summary
    TIGR02168
    Location:4234
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  4. XM_011533419.2XP_011531721.1  coiled-coil domain-containing protein 13 isoform X3

    Conserved Domains (1) summary
    TIGR02168
    Location:4234
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  5. XM_005264899.4XP_005264956.1  coiled-coil domain-containing protein 13 isoform X6

    Conserved Domains (1) summary
    COG1196
    Location:76444
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  6. XM_011533420.2XP_011531722.1  coiled-coil domain-containing protein 13 isoform X4

    Conserved Domains (1) summary
    COG1196
    Location:76444
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  7. XM_011533421.2XP_011531723.1  coiled-coil domain-containing protein 13 isoform X5

    Conserved Domains (1) summary
    COG1196
    Location:76444
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RNA

  1. XR_940385.1 RNA Sequence

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