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

Gene ID: 84317, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:28178
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
mouse all
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Genomic context

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See CCDC115 in Genome Data Viewer
Location:
2q21.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130337933..130342681, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (130771857..130776605, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131095506..131100254, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tektin 4 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131089968-131090518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16525 Neighboring gene tRNA-Glu (anticodon TTC) 1-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16527 Neighboring gene IMP U3 small nucleolar ribonucleoprotein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11956 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11957 Neighboring gene protein tyrosine phosphatase non-receptor type 18 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:131129403-131130030

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. Genetic screens reveal CCDC115 as a modulator of erythroid iron and heme trafficking. Sobh A, et al. Am J Hematol, 2020 Sep. PMID 32510613
  2. Modifier locus mapping of a transgenic F2 mouse population identifies CCDC115 as a novel aggressive prostate cancer modifier gene in humans. Winter JM, et al. BMC Genomics, 2018 Jun 11. PMID 29890952, Free PMC Article
  3. CCDC115-CDG: A new rare and misleading inherited cause of liver disease. Girard M, et al. Mol Genet Metab, 2018 Jul. PMID 29759592
  4. Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115. Larsen LE, et al. Cell Mol Gastroenterol Hepatol, 2022. PMID 34626841, Free PMC Article
  5. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Jansen JC, et al. Am J Hum Genet, 2016 Feb 4. PMID 26833332, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.
    Title: Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115.
  2. Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.
    Title: Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.
  3. Genetic screens reveal CCDC115 as a modulator of erythroid iron and heme trafficking.
    Title: Genetic screens reveal CCDC115 as a modulator of erythroid iron and heme trafficking.
  4. CCDC115 mutation is associated with Congenital disorders of glycosylation causing liver disease.
    Title: CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
  5. CCDC115 is associated with less aggressive prostate cancer in humans.
    Title: Modifier locus mapping of a transgenic F2 mouse population identifies CCDC115 as a novel aggressive prostate cancer modifier gene in humans.
  6. Vacuolar H+ ATPase (V-ATPase), the key proton pump for endo-lysosomal acidification, and two previously uncharacterised V-ATPase assembly factors, TMEM199 and CCDC115, stabilise HIF1alpha in aerobic conditions.
    Title: The vacuolar-ATPase complex and assembly factors, TMEM199 and CCDC115, control HIF1α prolyl hydroxylation by regulating cellular iron levels.
  7. Our study reveals CCDC115 deficiency as a disorder of Golgi homeostasis that can be readily identified via screening for abnormal glycosylation in plasma.
    Title: CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Submit: New GeneRIF Correction

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

Associated conditions

Description Tests
CCDC115-CDG
MedGen: C4225191 OMIM: 616828 GeneReviews: Not available
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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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Markers

Homology

Clone Names

  • FLJ30131, FLJ34877, MGC12981

Gene Ontology Provided by GOA

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

General protein information

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Preferred Names
coiled-coil domain-containing protein 115

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.

Genomic

  1. NG_046779.1 RefSeqGene

    Range
    5647..9878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AA831631, BC006429, DC340780
    Consensus CDS
    CCDS82512.1
    UniProtKB/TrEMBL
    B8ZZ99
    Related
    ENSP00000387301.1, ENST00000409127.1

  2. NM_001321119.2 → NP_001308048.2  coiled-coil domain-containing protein 115 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC132479

  3. NM_032357.4 → NP_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
    B4DJ47, Q96NT0, Q9BR88
    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: 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_000002.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    130771857..130776605 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96NT0.1 GenPept UniProtKB/Swiss-Prot:Q96NT0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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