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	51606
Gene name	ATPase H+ transporting V1 subunit H
Gene symbol	ATP6V1H
Synonyms (NCBI Gene)	CGI-11MSTP042NBP1SFDSFDalphaSFDbetaVMA13
Chromosome	8
Chromosome location	8q11.23
Summary	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen a

Show/Hide all (10)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020893	hsa-miR-155-5p	Proteomics	18668040
MIRT441142	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441142	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT809513	hsa-miR-132	CLIP-seq
MIRT809514	hsa-miR-212	CLIP-seq
MIRT809515	hsa-miR-150	CLIP-seq
MIRT809516	hsa-miR-4311	CLIP-seq
MIRT809517	hsa-miR-4713-5p	CLIP-seq
MIRT809518	hsa-miR-532-3p	CLIP-seq
MIRT809519	hsa-miR-659	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	32001091
GO:0000221	Component	Vacuolar proton-transporting V-type ATPase, V1 domain	IEA
GO:0000221	Component	Vacuolar proton-transporting V-type ATPase, V1 domain	ISS
GO:0000221	Component	Vacuolar proton-transporting V-type ATPase, V1 domain	NAS	9442887
GO:0005515	Function	Protein binding	IPI	9620685, 11179428, 12032142, 25659576, 32296183, 32814053
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	NAS	32001091
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	NAS	32001091
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006897	Process	Endocytosis	IDA	12032142
GO:0007035	Process	Vacuolar acidification	NAS	9442887, 32001091
GO:0007042	Process	Lysosomal lumen acidification	NAS	32001091, 33065002
GO:0010008	Component	Endosome membrane	NAS	32001091
GO:0016020	Component	Membrane	IDA	33065002
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0016887	Function	ATP hydrolysis activity	NAS	9442887
GO:0030234	Function	Enzyme regulator activity	NAS	9442887
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033176	Component	Proton-transporting V-type ATPase complex	NAS	33065002
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
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, 19199708
GO:0098850	Component	Extrinsic component of synaptic vesicle membrane	IEA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	NAS	9442887, 33065002

MIM	HGNC	e!Ensembl
608861	18303	ENSG00000047249

Q9UI12

Protein name

V-type proton ATPase subunit H (V-ATPase subunit H) (Nef-binding protein 1) (NBP1) (Protein VMA13 homolog) (V-ATPase 50/57 kDa subunits) (Vacuolar proton pump subunit H) (Vacuolar proton pump subunit SFD)

Protein function

Subunit of the V1 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:33065002). V-ATPase is responsibl

PDB

6WM2 , 6WM3 , 6WM4 , 7FDA , 7FDB , 7FDC , 7U4T , 7UNF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03224	V-ATPase_H_N	17 → 342	V-ATPase subunit H	Family
PF11698	V-ATPase_H_C	348 → 464	V-ATPase subunit H	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9620685}.

Sequence

MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLQGQMISAEDCEFIQRFEMKRSPE
EKQEMLQTEGSQCAKTFINLMTHICKEQTVQYILTMVDDMLQENHQRVSIFFDYARCSKN
TAWPYFLPMLNRQDPFTVHMAARIIAKLAAWGKELMEGSDLNYYFNWIKTQLSSQKLRGS
GVAVETGTVSSSDSSQYVQCVAGCLQLMLRVNEYRFAWVEADGVNCIMGVLSNKCGFQLQ
YQMIFSIWLLAFSPQMCEHLRRYNIIPVLSDILQESVKEKVTRIILAAFRNFLEKSTERE
TRQEYALAMIQCKVLKQLENLEQQKYDDEDISEDIKFLLEKLGESVQDLSSFDEYSSELK
SGRLEWSPVHKSEKFWRENAVRLNEKNYELLKILTKLLEVSDDPQVLAVAAHDVGEYVRH
YPRGKRVIEQLGGKQLVMNHMHHEDQQVRYNALLAVQKLMVHNWEYLGKQLQSEQPQTAA
ARS

Sequence length

483

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Lysosome Phagosome mTOR signaling pathway Synaptic vesicle cycle Vibrio cholerae infection Epithelial cell signaling in Helicobacter pylori infection Tuberculosis Human papillomavirus infection Rheumatoid arthritis		ROS and RNS production in phagocytes Nef Mediated CD4 Down-regulation Nef Mediated CD8 Down-regulation Insulin receptor recycling Transferrin endocytosis and recycling Blockage of phagosome acidification 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 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.
ASTROCYTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	29751835, 34367470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28653889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35945960	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29896417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21871445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21871445		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	21871445	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21775499, 21871445	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21871445, 31272281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	28158191		★★★★★ ★☆☆☆☆ Found in Text Mining only
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY	BEFREE	9164653		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	29751835	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29751835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28158191, 29782852, 31272281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27924156, 28158191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28437346		★★★★★ ★☆☆☆☆ Found in Text Mining only

ATP6V1H (ATPase H+ transporting V1 subunit H)