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coiled-coil domain containing 115

Summary

Gene Symbol

CCDC115

Aliases

FLJ30131
MGC12981
ccp1

Organism

Homo sapiens (human)

External Links

NCBI Gene

84317

HGNC

28178

KEGG Gene ID

hsa:84317

PubChem

84317

Alliance of Genome Resources

HGNC:28178

Annotation

Keyword

Alternative splicing
Coiled coil
Congenital disorder of glycosylation
Cytoplasmic vesicle
Disease variant
Endoplasmic reticulum
Endosome
Lysosome
Proteomics identification
Reference proteome

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q96NT0
B8ZZ99

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
vacuolar proton-transporting V-type ATPase complex assembly	IEA
intracellular iron ion homeostasis	IMP	28296633
lysosomal lumen acidification	IMP	28296633
lysosomal protein catabolic process	IMP	28296633
cellular response to increased oxygen levels	IMP	28296633

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

catabolic process [inference]

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

primary metabolic process [inference]

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organic substance catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

organonitrogen compound catabolic process [inference]

protein catabolic process [inference]

protein catabolic process in the vacuole [inference]

lysosomal protein catabolic process

cellular process [inference]

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

protein-containing complex assembly [inference]

proton-transporting two-sector ATPase complex assembly [inference]

proton-transporting V-type ATPase complex assembly [inference]

vacuolar proton-transporting V-type ATPase complex assembly

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

proton-transporting two-sector ATPase complex assembly [inference]

proton-transporting V-type ATPase complex assembly [inference]

vacuolar proton-transporting V-type ATPase complex assembly

homeostatic process [inference]

cellular homeostasis [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

monoatomic cation homeostasis [inference]

regulation of pH [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic cation homeostasis [inference]

intracellular iron ion homeostasis

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

inorganic ion homeostasis [inference]

intracellular iron ion homeostasis

response to stimulus [inference]

response to abiotic stimulus [inference]

response to oxygen levels [inference]

response to increased oxygen levels [inference]

cellular response to increased oxygen levels

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

response to chemical [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to increased oxygen levels

biological regulation [inference]

regulation of pH [inference]

regulation of cellular pH [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

regulation of biological quality [inference]

regulation of intracellular pH [inference]

regulation of lysosomal lumen pH [inference]

lysosomal lumen acidification

intracellular pH reduction [inference]

vacuolar acidification [inference]

lysosomal lumen acidification

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
endoplasmic reticulum-Golgi intermediate compartment	IDA	26833332
endosome	IEA
endoplasmic reticulum	IDA	28296633
membrane	HDA	19946888
vacuolar proton-transporting V-type ATPase complex	IDA	28296633

GO Hierarchy

cellular component

protein-containing complex [inference]

membrane protein complex [inference]

proton-transporting two-sector ATPase complex [inference]

proton-transporting V-type ATPase complex [inference]

vacuolar proton-transporting V-type ATPase complex

catalytic complex [inference]

ATPase complex [inference]

proton-transporting two-sector ATPase complex [inference]

proton-transporting V-type ATPase complex [inference]

vacuolar proton-transporting V-type ATPase complex

cellular anatomical entity [inference]

membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

Golgi-associated vesicle [inference]

COPI-coated vesicle

coated vesicle [inference]

COPI-coated vesicle

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

Golgi-associated vesicle [inference]

COPI-coated vesicle

coated vesicle [inference]

COPI-coated vesicle

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

Golgi-associated vesicle [inference]

COPI-coated vesicle

coated vesicle [inference]

COPI-coated vesicle

Displaying **all 2** entries
GO Term	Evidence Code	PMID
protein binding	IPI	32296183
unfolded protein binding	IBA

GO Hierarchy

molecular function

binding [inference]

protein binding

unfolded protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000136710

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K23543

Name

coiled-coil domain-containing protein 115

References

26833332

Disease

Disease Ontology

Displaying entries **11 - 15** of 15 in total

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DO ID	Disease Name	Source
DOID:409	liver disease	DisGeNET
DOID:5212	congenital disorder of glycosylation	DisGeNET
DOID:769	neuroblastoma	DisGeNET DisGeNET
DOID:8622	measles	DisGeNET
DOID:893	Wilson disease	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 24 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000276	Long face
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001290	Generalized hypotonia
HP:0001394	Cirrhosis
HP:0001399	Hepatic failure
HP:0001433	Hepatosplenomegaly