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CCDC115 coiled-coil domain containing 115 [ Homo sapiens (human) ]

Gene ID: 84317, updated on 7-Jun-2020

Summary

Official Symbol
CCDC115provided by HGNC
Official Full Name
coiled-coil domain containing 115provided by HGNC
Primary source
HGNC:HGNC:28178
See related
Ensembl:ENSG00000136710 MIM:613734
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ccp1; CDG2O
Summary
The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in ovary (RPKM 17.0), thyroid (RPKM 15.4) and 25 other tissues See more
Orthologs

Genomic context

See CCDC115 in Genome Data Viewer
Location:
2q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (130337933..130342681, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131095814..131100383, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tektin 4 pseudogene 3 Neighboring gene tRNA-Glu (anticodon TTC) 1-1 Neighboring gene IMP U3 small nucleolar ribonucleoprotein 4 Neighboring gene protein tyrosine phosphatase non-receptor type 18 Neighboring gene uncharacterized LOC105373618

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30131, FLJ34877, MGC12981

Gene Ontology Provided by GOA

Function Evidence Code Pubs
unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to increased oxygen levels IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosomal lumen acidification IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosomal protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
vacuolar proton-transporting V-type ATPase complex assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
COPI-coated vesicle IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
endosome IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
vacuolar proton-transporting V-type ATPase complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 115

NCBI Reference Sequences (RefSeq)

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_046779.1 RefSeqGene

    Range
    5130..9878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001321118.1NP_001308047.1  coiled-coil domain-containing protein 115 isoform b

    Status: REVIEWED

    Source sequence(s)
    AA831631, BC006429, DC340780
    Consensus CDS
    CCDS82512.1
    UniProtKB/Swiss-Prot
    Q96NT0
    UniProtKB/TrEMBL
    B8ZZ99
    Related
    ENSP00000387301.1, ENST00000409127.1
  2. NM_001321119.2NP_001308048.2  coiled-coil domain-containing protein 115 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC132479
  3. NM_032357.4NP_115733.2  coiled-coil domain-containing protein 115 isoform a

    See identical proteins and their annotated locations for NP_115733.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AA831631, BC006429, DB025106
    Consensus CDS
    CCDS2159.1
    UniProtKB/Swiss-Prot
    Q96NT0
    UniProtKB/TrEMBL
    A0A024QZZ6
    Related
    ENSP00000259229.2, ENST00000259229.7

RNA

  1. NR_104471.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 5' most exon and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA831631, AK295922, BC006429, DC340780
    Related
    ENST00000651709.1
  2. NR_135548.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AA831631, AK295922, BC006429, DB025106

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    130337933..130342681 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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