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CCDC78 coiled-coil domain containing 78 [ Homo sapiens (human) ]

Gene ID: 124093, updated on 7-May-2016
Official Symbol
CCDC78provided by HGNC
Official Full Name
coiled-coil domain containing 78provided by HGNC
Primary source
HGNC:HGNC:14153
See related
Ensembl:ENSG00000162004 HPRD:08174; MIM:614666; Vega:OTTHUMG00000121176
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
CNM4; JFP10; C16orf25; hsCCDC78
Summary
The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]
Orthologs
Location:
16p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (722582..726881, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (772582..776880, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene F-box and leucine-rich repeat protein 16 Neighboring gene meteorin, glial cell differentiation regulator Neighboring gene family with sequence similarity 173 member A Neighboring gene hydroxyacylglutathione hydrolase-like Neighboring gene nuclear prelamin A recognition factor like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Homology

Clone Names

  • FLJ34512

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell projection organization IEA
Inferred from Electronic Annotation
more info
 
de novo centriole assembly IDA
Inferred from Direct Assay
more info
PubMed 
skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
deuterosome IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
coiled-coil domain-containing protein 78

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.

Genomic

  1. NG_032932.1 RefSeqGene

    Range
    5001..8892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031737.2NP_001026907.2  coiled-coil domain-containing protein 78

    See identical proteins and their annotated locations for NP_001026907.2

    Status: VALIDATED

    Source sequence(s)
    BC042110, DC341680, Z98258
    Consensus CDS
    CCDS32353.1
    UniProtKB/Swiss-Prot
    A2IDD5
    Related
    ENSP00000293889, OTTHUMP00000149990, ENST00000293889, OTTHUMT00000241665
    Conserved Domains (1) summary
    pfam14739
    Location:54166
    DUF4472; Domain of unknown function (DUF4472)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    722582..726881 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522363.1XP_011520665.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128309
    DUF4472; Domain of unknown function (DUF4472)
  2. XM_011522361.1XP_011520663.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128309
    DUF4472; Domain of unknown function (DUF4472)
  3. XM_011522371.1XP_011520673.1  

  4. XM_006720843.2XP_006720906.1  

    Conserved Domains (1) summary
    pfam14739
    Location:54166
    DUF4472; Domain of unknown function (DUF4472)
  5. XM_011522369.1XP_011520671.1  

    Conserved Domains (1) summary
    pfam14739
    Location:54164
    DUF4472; Domain of unknown function (DUF4472)
  6. XM_011522368.1XP_011520670.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128199
    DUF4472; Domain of unknown function (DUF4472)
  7. XM_011522367.1XP_011520669.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128208
    DUF4472; Domain of unknown function (DUF4472)
  8. XM_006720838.1XP_006720901.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128240
    DUF4472; Domain of unknown function (DUF4472)
  9. XM_011522365.1XP_011520667.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128238
    DUF4472; Domain of unknown function (DUF4472)
  10. XM_011522360.1XP_011520662.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128300
    DUF4472; Domain of unknown function (DUF4472)
  11. XM_011522359.1XP_011520661.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128298
    DUF4472; Domain of unknown function (DUF4472)
  12. XM_011522357.1XP_011520659.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128311
    DUF4472; Domain of unknown function (DUF4472)
  13. XM_011522358.1XP_011520660.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128309
    DUF4472; Domain of unknown function (DUF4472)
  14. XM_011522356.1XP_011520658.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128309
    DUF4472; Domain of unknown function (DUF4472)
  15. XM_011522370.1XP_011520672.1  

    Conserved Domains (1) summary
    pfam14739
    Location:5490
    DUF4472; Domain of unknown function (DUF4472)
  16. XM_011522366.1XP_011520668.1  

    Conserved Domains (1) summary
    pfam14739
    Location:54235
    DUF4472; Domain of unknown function (DUF4472)
  17. XM_011522364.1XP_011520666.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128309
    DUF4472; Domain of unknown function (DUF4472)
  18. XM_011522362.1XP_011520664.1  

    Conserved Domains (1) summary
    pfam14739
    Location:128309
    DUF4472; Domain of unknown function (DUF4472)
  19. XM_005255106.3XP_005255163.1  

    UniProtKB/Swiss-Prot
    A2IDD5
    Conserved Domains (1) summary
    pfam14739
    Location:54153
    DUF4472; Domain of unknown function (DUF4472)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    772552..776443 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173476.2: Suppressed sequence

    Description
    NM_173476.2: This RefSeq was suppressed because insufficient evidence exists for the exon combination of this transcript variant, which was based on AK128538.1.