• Gene id: 51606

Gene Summary

• Gene Symbol: ATP6V1H   Gene   UCSC   Ensembl
• Aliases: CGI-11, MSTP042, NBP1, SFD, SFDalpha, SFDbeta, VMA13
• Gene name: ATPase H+ transporting V1 subunit H
• Alternate names: V-type proton ATPase subunit H, ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H, V-ATPase 50/57 kDa subunits, V-ATPase subunit H, nef-binding protein 1, protein VMA13 homolog, vacuolar ATP synthase subunit H, vacuolar ATPase subunit H, vacuolar proton p,
• Gene location: 8q11.23 (53843310: 53715542)     Exons: 16     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 608861

Protein Summary

• Protein general information: Q9UI12  
  • 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)
  • Length: 483  
  • Mass: 55883
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLQGQMISAEDCEFIQRFEMKRSPEEKQEMLQTEGSQCAK
  TFINLMTHICKEQTVQYILTMVDDMLQENHQRVSIFFDYARCSKNTAWPYFLPMLNRQDPFTVHMAARIIAKLAA
  WGKELMEGSDLNYYFNWIKTQLSSQKLRGSGVAVETGTVSSSDSSQYVQCVAGCLQLMLRVNEYRFAWVEADGVN
  CIMGVLSNKCGFQLQYQMIFSIWLLAFSPQMCEHLRRYNIIPVLSDILQESVKEKVTRIILAAFRNFLEKSTERE
  TRQEYALAMIQCKVLKQLENLEQQKYDDEDISEDIKFLLEKLGESVQDLSSFDEYSSELKSGRLEWSPVHKSEKF
  WRENAVRLNEKNYELLKILTKLLEVSDDPQVLAVAAHDVGEYVRHYPRGKRVIEQLGGKQLVMNHMHHEDQQVRY
  NALLAVQKLMVHNWEYLGKQLQSEQPQTAAARS

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR004908  IPR011987  IPR038497  
  • STRING: ENSP00000352522
• Other Databases: GeneCards:  ATP6V1H  Malacards:  ATP6V1H

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0000221	vacuolar proton-transporting V-type ATPase, V1 domain	IEA	cellular component
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0050690	regulation of defense response to virus by virus	TAS	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0033572	transferrin transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0006897	endocytosis	IDA	biological process
GO:0016887	ATPase activity	NAS	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000221	vacuolar proton-transporting V-type ATPase, V1 domain	NAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030234	enzyme regulator activity	NAS	molecular function
GO:1902600	proton transmembrane transport	NAS	biological process
GO:0007035	vacuolar acidification	NAS	biological process
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa04150	mTOR signaling pathway
hsa00190	Oxidative phosphorylation
hsa05152	Tuberculosis
hsa04145	Phagosome
hsa04142	Lysosome
hsa04721	Synaptic vesicle cycle
hsa05323	Rheumatoid arthritis
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05110	Vibrio cholerae infection

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq