Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	527
Gene name	ATPase H+ transporting V0 subunit c
Gene symbol	ATP6V0C
Synonyms (NCBI Gene)	ATP6CATP6LATPLEPEO3VATLVPPCVma3
Chromosome	16
Chromosome location	16p13.3
Summary	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort

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Show/Hide all (187)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039438	hsa-miR-421	CLASH	23622248
MIRT808685	hsa-miR-1	CLIP-seq
MIRT808686	hsa-miR-1197	CLIP-seq
MIRT808687	hsa-miR-1251	CLIP-seq
MIRT808688	hsa-miR-1254	CLIP-seq
MIRT808689	hsa-miR-1273	CLIP-seq
MIRT808690	hsa-miR-1293	CLIP-seq
MIRT808691	hsa-miR-1299	CLIP-seq
MIRT808692	hsa-miR-138	CLIP-seq
MIRT808693	hsa-miR-1538	CLIP-seq
MIRT808694	hsa-miR-154	CLIP-seq
MIRT808695	hsa-miR-1908	CLIP-seq
MIRT808696	hsa-miR-1972	CLIP-seq
MIRT808697	hsa-miR-206	CLIP-seq
MIRT808698	hsa-miR-2861	CLIP-seq
MIRT808699	hsa-miR-3116	CLIP-seq
MIRT808700	hsa-miR-3141	CLIP-seq
MIRT808701	hsa-miR-3150b-3p	CLIP-seq
MIRT808702	hsa-miR-3151	CLIP-seq
MIRT808703	hsa-miR-3155	CLIP-seq
MIRT808704	hsa-miR-3155b	CLIP-seq
MIRT808705	hsa-miR-3180	CLIP-seq
MIRT808706	hsa-miR-3180-3p	CLIP-seq
MIRT808707	hsa-miR-3192	CLIP-seq
MIRT808708	hsa-miR-3195	CLIP-seq
MIRT808709	hsa-miR-3196	CLIP-seq
MIRT808710	hsa-miR-323-5p	CLIP-seq
MIRT808711	hsa-miR-3616-3p	CLIP-seq
MIRT808712	hsa-miR-3652	CLIP-seq
MIRT808713	hsa-miR-3673	CLIP-seq
MIRT808714	hsa-miR-3914	CLIP-seq
MIRT808715	hsa-miR-3918	CLIP-seq
MIRT808716	hsa-miR-3922-5p	CLIP-seq
MIRT808717	hsa-miR-3960	CLIP-seq
MIRT808718	hsa-miR-4254	CLIP-seq
MIRT808719	hsa-miR-4261	CLIP-seq
MIRT808720	hsa-miR-4278	CLIP-seq
MIRT808721	hsa-miR-4430	CLIP-seq
MIRT808722	hsa-miR-4456	CLIP-seq
MIRT808723	hsa-miR-4457	CLIP-seq
MIRT808724	hsa-miR-4467	CLIP-seq
MIRT808725	hsa-miR-4474-3p	CLIP-seq
MIRT808726	hsa-miR-4483	CLIP-seq
MIRT808727	hsa-miR-4488	CLIP-seq
MIRT808728	hsa-miR-4505	CLIP-seq
MIRT808729	hsa-miR-4651	CLIP-seq
MIRT808730	hsa-miR-4687-3p	CLIP-seq
MIRT808731	hsa-miR-4689	CLIP-seq
MIRT808732	hsa-miR-4697-5p	CLIP-seq
MIRT808733	hsa-miR-4708-3p	CLIP-seq
MIRT808734	hsa-miR-4710	CLIP-seq
MIRT808735	hsa-miR-4716-3p	CLIP-seq
MIRT808736	hsa-miR-4721	CLIP-seq
MIRT808737	hsa-miR-4745-3p	CLIP-seq
MIRT808738	hsa-miR-4778-5p	CLIP-seq
MIRT808739	hsa-miR-4779	CLIP-seq
MIRT808740	hsa-miR-4782-5p	CLIP-seq
MIRT808741	hsa-miR-4784	CLIP-seq
MIRT808742	hsa-miR-484	CLIP-seq
MIRT808743	hsa-miR-516b	CLIP-seq
MIRT808744	hsa-miR-545	CLIP-seq
MIRT808745	hsa-miR-592	CLIP-seq
MIRT808746	hsa-miR-597	CLIP-seq
MIRT808747	hsa-miR-606	CLIP-seq
MIRT808748	hsa-miR-608	CLIP-seq
MIRT808749	hsa-miR-613	CLIP-seq
MIRT808750	hsa-miR-637	CLIP-seq
MIRT808751	hsa-miR-663	CLIP-seq
MIRT808752	hsa-miR-665	CLIP-seq
MIRT808753	hsa-miR-873	CLIP-seq
MIRT808754	hsa-miR-875-3p	CLIP-seq
MIRT808755	hsa-miR-937	CLIP-seq
MIRT808705	hsa-miR-3180	CLIP-seq
MIRT808706	hsa-miR-3180-3p	CLIP-seq
MIRT808709	hsa-miR-3196	CLIP-seq
MIRT808717	hsa-miR-3960	CLIP-seq
MIRT808724	hsa-miR-4467	CLIP-seq
MIRT808727	hsa-miR-4488	CLIP-seq
MIRT808732	hsa-miR-4697-5p	CLIP-seq
MIRT808747	hsa-miR-606	CLIP-seq
MIRT808750	hsa-miR-637	CLIP-seq
MIRT808687	hsa-miR-1251	CLIP-seq
MIRT808689	hsa-miR-1273	CLIP-seq
MIRT808694	hsa-miR-154	CLIP-seq
MIRT808723	hsa-miR-4457	CLIP-seq
MIRT808685	hsa-miR-1	CLIP-seq
MIRT808687	hsa-miR-1251	CLIP-seq
MIRT808688	hsa-miR-1254	CLIP-seq
MIRT808690	hsa-miR-1293	CLIP-seq
MIRT808691	hsa-miR-1299	CLIP-seq
MIRT808694	hsa-miR-154	CLIP-seq
MIRT808697	hsa-miR-206	CLIP-seq
MIRT808698	hsa-miR-2861	CLIP-seq
MIRT1938857	hsa-miR-296-5p	CLIP-seq
MIRT808699	hsa-miR-3116	CLIP-seq
MIRT808701	hsa-miR-3150b-3p	CLIP-seq
MIRT808702	hsa-miR-3151	CLIP-seq
MIRT808705	hsa-miR-3180	CLIP-seq
MIRT808706	hsa-miR-3180-3p	CLIP-seq
MIRT1938858	hsa-miR-3184	CLIP-seq
MIRT808707	hsa-miR-3192	CLIP-seq
MIRT808708	hsa-miR-3195	CLIP-seq
MIRT808709	hsa-miR-3196	CLIP-seq
MIRT808710	hsa-miR-323-5p	CLIP-seq
MIRT808713	hsa-miR-3673	CLIP-seq
MIRT1938859	hsa-miR-423-5p	CLIP-seq
MIRT808718	hsa-miR-4254	CLIP-seq
MIRT808720	hsa-miR-4278	CLIP-seq
MIRT1938860	hsa-miR-4481	CLIP-seq
MIRT808726	hsa-miR-4483	CLIP-seq
MIRT808729	hsa-miR-4651	CLIP-seq
MIRT808731	hsa-miR-4689	CLIP-seq
MIRT808735	hsa-miR-4716-3p	CLIP-seq
MIRT1938861	hsa-miR-4745-5p	CLIP-seq
MIRT1938862	hsa-miR-4758-5p	CLIP-seq
MIRT808739	hsa-miR-4779	CLIP-seq
MIRT808740	hsa-miR-4782-5p	CLIP-seq
MIRT808741	hsa-miR-4784	CLIP-seq
MIRT808743	hsa-miR-516b	CLIP-seq
MIRT808748	hsa-miR-608	CLIP-seq
MIRT808749	hsa-miR-613	CLIP-seq
MIRT808753	hsa-miR-873	CLIP-seq
MIRT808754	hsa-miR-875-3p	CLIP-seq
MIRT808738	hsa-miR-4778-5p	CLIP-seq
MIRT808685	hsa-miR-1	CLIP-seq
MIRT808686	hsa-miR-1197	CLIP-seq
MIRT808687	hsa-miR-1251	CLIP-seq
MIRT808689	hsa-miR-1273	CLIP-seq
MIRT808690	hsa-miR-1293	CLIP-seq
MIRT808691	hsa-miR-1299	CLIP-seq
MIRT808694	hsa-miR-154	CLIP-seq
MIRT808696	hsa-miR-1972	CLIP-seq
MIRT808697	hsa-miR-206	CLIP-seq
MIRT808700	hsa-miR-3141	CLIP-seq
MIRT808701	hsa-miR-3150b-3p	CLIP-seq
MIRT808702	hsa-miR-3151	CLIP-seq
MIRT808705	hsa-miR-3180	CLIP-seq
MIRT808706	hsa-miR-3180-3p	CLIP-seq
MIRT808707	hsa-miR-3192	CLIP-seq
MIRT808708	hsa-miR-3195	CLIP-seq
MIRT808709	hsa-miR-3196	CLIP-seq
MIRT808710	hsa-miR-323-5p	CLIP-seq
MIRT808713	hsa-miR-3673	CLIP-seq
MIRT808714	hsa-miR-3914	CLIP-seq
MIRT808715	hsa-miR-3918	CLIP-seq
MIRT808716	hsa-miR-3922-5p	CLIP-seq
MIRT808719	hsa-miR-4261	CLIP-seq
MIRT808720	hsa-miR-4278	CLIP-seq
MIRT808723	hsa-miR-4457	CLIP-seq
MIRT808726	hsa-miR-4483	CLIP-seq
MIRT2178024	hsa-miR-4520a-3p	CLIP-seq
MIRT2178025	hsa-miR-4520b-3p	CLIP-seq
MIRT808729	hsa-miR-4651	CLIP-seq
MIRT2178026	hsa-miR-4672	CLIP-seq
MIRT808730	hsa-miR-4687-3p	CLIP-seq
MIRT808731	hsa-miR-4689	CLIP-seq
MIRT808735	hsa-miR-4716-3p	CLIP-seq
MIRT808739	hsa-miR-4779	CLIP-seq
MIRT808740	hsa-miR-4782-5p	CLIP-seq
MIRT808741	hsa-miR-4784	CLIP-seq
MIRT2178027	hsa-miR-4799-5p	CLIP-seq
MIRT808743	hsa-miR-516b	CLIP-seq
MIRT808744	hsa-miR-545	CLIP-seq
MIRT808747	hsa-miR-606	CLIP-seq
MIRT808748	hsa-miR-608	CLIP-seq
MIRT808749	hsa-miR-613	CLIP-seq
MIRT808753	hsa-miR-873	CLIP-seq
MIRT808754	hsa-miR-875-3p	CLIP-seq
MIRT808755	hsa-miR-937	CLIP-seq
MIRT808687	hsa-miR-1251	CLIP-seq
MIRT808688	hsa-miR-1254	CLIP-seq
MIRT808689	hsa-miR-1273	CLIP-seq
MIRT808694	hsa-miR-154	CLIP-seq
MIRT808698	hsa-miR-2861	CLIP-seq
MIRT808699	hsa-miR-3116	CLIP-seq
MIRT808702	hsa-miR-3151	CLIP-seq
MIRT808705	hsa-miR-3180	CLIP-seq
MIRT808706	hsa-miR-3180-3p	CLIP-seq
MIRT808708	hsa-miR-3195	CLIP-seq
MIRT808709	hsa-miR-3196	CLIP-seq
MIRT808714	hsa-miR-3914	CLIP-seq
MIRT808718	hsa-miR-4254	CLIP-seq
MIRT808723	hsa-miR-4457	CLIP-seq
MIRT808729	hsa-miR-4651	CLIP-seq
MIRT808744	hsa-miR-545	CLIP-seq
MIRT808748	hsa-miR-608	CLIP-seq
MIRT808753	hsa-miR-873	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	32001091
GO:0000220	Component	Vacuolar proton-transporting V-type ATPase, V0 domain	ISS
GO:0005515	Function	Protein binding	IPI	1334459, 11543633, 20093472, 21988832, 25416956, 31515488, 32296183, 32814053, 33961781
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	NAS	32001091
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005886	Component	Plasma membrane	NAS	32001091
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007035	Process	Vacuolar acidification	NAS	32001091
GO:0007042	Process	Lysosomal lumen acidification	NAS	32001091, 33065002
GO:0010008	Component	Endosome membrane	NAS	32001091
GO:0010008	Component	Endosome membrane	TAS
GO:0015078	Function	Proton transmembrane transporter activity	IEA
GO:0015986	Process	Proton motive force-driven ATP synthesis	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	33065002
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	1709739
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0030177	Process	Positive regulation of Wnt signaling pathway	IMP	20093472
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	18298843
GO:0033176	Component	Proton-transporting V-type ATPase complex	IEA
GO:0033176	Component	Proton-transporting V-type ATPase complex	NAS	33065002
GO:0033177	Component	Proton-transporting two-sector ATPase complex, proton-transporting domain	IEA
GO:0033179	Component	Proton-transporting V-type ATPase, V0 domain	IEA
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0045202	Component	Synapse	IEA
GO:0046933	Function	Proton-transporting ATP synthase activity, rotational mechanism	TAS	1709739
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	TAS	1709739
GO:0048388	Process	Endosomal lumen acidification	NAS	32001091
GO:0051452	Process	Intracellular pH reduction	NAS	32001091
GO:0061795	Process	Golgi lumen acidification	NAS	32001091
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0097401	Process	Synaptic vesicle lumen acidification	IEA
GO:0098588	Component	Bounding membrane of organelle	IEA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	NAS	33065002
GO:1902600	Process	Proton transmembrane transport	TAS	1709739

MIM	HGNC	e!Ensembl
108745	855	ENSG00000185883

P27449

Protein name

V-type proton ATPase 16 kDa proteolipid subunit c (V-ATPase 16 kDa proteolipid subunit c) (Vacuolar proton pump 16 kDa proteolipid subunit c)

Protein function

Proton-conducting pore forming subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:33

PDB

6WLW , 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00137	ATP-synt_C	17 → 76	ATP synthase subunit C	Family
PF00137	ATP-synt_C	93 → 152	ATP synthase subunit C	Family

Sequence

MSESKSGPEYASFFAVMGASAAMVFSALGAAYGTAKSGTGIAAMSVMRPEQIMKSIIPVV
MAGIIAIYGLVVAVLIANSLNDDISLYKSFLQLGAGLSVGLSGLAAGFAIGIVGDAGVRG
TAQQPRLFVGMILILIFAEVLGLYGLIVALILSTK

Sequence length

155

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Lysosome Phagosome Synaptic vesicle cycle Collecting duct acid secretion Vibrio cholerae infection Epithelial cell signaling in Helicobacter pylori infection Tuberculosis Human papillomavirus infection Rheumatoid arthritis		ROS and RNS production in phagocytes Neutrophil degranulation Insulin receptor recycling Transferrin endocytosis and recycling Amino acids regulate mTORC1 Ion channel transport

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY	Pathogenic	rs2505557619, rs2505557763, rs2505558718, rs2505559108, rs2505559214, rs2065899210	RCV003320494 RCV003320495 RCV003320496 RCV003320497 RCV003320498 RCV003320483	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epilepsy, early-onset, 3, with or without developmental delay	Pathogenic	rs2505548999, rs2505558964, rs2505557999	RCV003320499 RCV003320500 RCV003320501	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs2065899210	RCV001254940	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHILDHOOD-ONSET EPILEPSY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Corpus Callosum	Associate	36074901	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Stimulate	30884810	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Associate	36074901	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome Deletion	Inhibit	30245510	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	30245510, 36074901, 40085430	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Associate	40085430	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Associate	30245510, 36074901, 40085430	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Associate	31554233	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fetal Alcohol Spectrum Disorders	Associate	36074901	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Associate	31554233	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	30245510	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell	Associate	30884810	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Associate	30245510	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Disorders	Associate	36074901	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Associate	12929941	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	26196085	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Associate	36074901	★★★★★ ★☆☆☆☆ Found in Text Mining only

ATP6V0C (ATPase H+ transporting V0 subunit c)