• Gene id: 525

Gene Summary

• Gene Symbol: ATP6V1B1   Gene   UCSC   Ensembl
• Aliases: ATP6B1, RTA1B, VATB, VMA2, VPP3
• Gene name: ATPase H+ transporting V1 subunit B1
• Alternate names: V-type proton ATPase subunit B, kidney isoform, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1, H(+)-transporting two-sector ATPase, 58kD subunit, H+-ATPase beta 1 subunit, V-ATPase B1 subunit, V-ATPase subunit B 1, endomembrane proton pump 58 kDa s,
• Gene location: 2p13.3 (70935899: 70965430)     Exons: 15     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 192132

SNPs

rs1042838

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101062681C>A
NC_000011.10   g.101062681C>G
NC_000011.9   g.100933412C>A
NC_000011.9   g.100933412C>G
NG_016475.1   g.72133G>T
NG_016475.1   g.72133G>C
NM_000926.4   c.1978G>T
NM_000926.4   c.1978G>C
NM_001202474.3   c.1486G>T
NM_001202474.3   c.1486G>C
  

Protein Summary

• Protein general information: P15313  
  • Name: V type proton ATPase subunit B, kidney isoform (V ATPase subunit B 1) (Endomembrane proton pump 58 kDa subunit) (Vacuolar proton pump subunit B 1)
  • Length: 513  
  • Mass: 56833
  • Tissue specificity: Expressed in the cochlea and endolymphatic sac. {ECO
• Sequence:

  MAMEIDSRPGGLPGSSCNLGAAREHMQAVTRNYITHPRVTYRTVCSVNGPLVVLDRVKFAQYAEIVHFTLPDGTQ
  RSGQVLEVAGTKAIVQVFEGTSGIDARKTTCEFTGDILRTPVSEDMLGRVFNGSGKPIDKGPVVMAEDFLDINGQ
  PINPHSRIYPEEMIQTGISPIDVMNSIARGQKIPIFSAAGLPHNEIAAQICRQAGLVKKSKAVLDYHDDNFAIVF
  AAMGVNMETARFFKSDFEQNGTMGNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEA
  LREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRGGSITQIPILTMPNDDITHPIPDLTGFITEGQIYVDR
  QLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHGDVSNQLYACYAIGKDVQAMKAVVGEEALTSEDLLYLEFLQ
  KFEKNFINQGPYENRSVFESLDLGWKLLRIFPKEMLKRIPQAVIDEFYSREGALQDLAPDTAL

• Structural information:
  • Interpro: IPR020003  IPR004100  IPR000194  IPR005723  IPR027417   IPR022879  
  • Prosite: PS00152
  • STRING: ENSP00000234396
• Other Databases: GeneCards:  ATP6V1B1  Malacards:  ATP6V1B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0007588	excretion	IMP	biological process
GO:0006885	regulation of pH	IMP	biological process
GO:1902600	proton transmembrane transport	IMP	biological process
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IMP	cellular component
GO:0001503	ossification	IMP	biological process
GO:0033180	proton-transporting V-type ATPase, V1 domain	IEA	cellular component
GO:0046034	ATP metabolic process	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0006885	regulation of pH	IMP	biological process
GO:0034220	ion transmembrane transport	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:0098850	extrinsic component of synaptic vesicle membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0035812	renal sodium excretion	IEA	biological process
GO:0016328	lateral plasma membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0006693	prostaglandin metabolic process	IEA	biological process
GO:0005902	microvillus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0003096	renal sodium ion transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0055075	potassium ion homeostasis	IEA	biological process
GO:0055064	chloride ion homeostasis	IEA	biological process
GO:0046034	ATP metabolic process	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0030534	adult behavior	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015078	proton transmembrane transporter activity	IEA	molecular function
GO:0010468	regulation of gene expression	IEA	biological process
GO:0006885	regulation of pH	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003091	renal water homeostasis	IEA	biological process
GO:0042048	olfactory behavior	IEA	biological process
GO:0012505	endomembrane system	IEA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0055074	calcium ion homeostasis	IMP	biological process
GO:0055074	calcium ion homeostasis	IMP	biological process
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0007588	excretion	IMP	biological process
GO:0005902	microvillus	ISS	cellular component
GO:0045851	pH reduction	IMP	biological process
GO:0015078	proton transmembrane transporter activity	ISS	molecular function
GO:0042472	inner ear morphogenesis	IMP	biological process
GO:0016328	lateral plasma membrane	ISS	cellular component
GO:0045851	pH reduction	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005737	cytoplasm	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa04150	mTOR signaling pathway
hsa00190	Oxidative phosphorylation
hsa04145	Phagosome
hsa04721	Synaptic vesicle cycle
hsa05323	Rheumatoid arthritis
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05110	Vibrio cholerae infection
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Renal tubular acidosis	KEGG:H02310
Distal renal tubular acidosis	KEGG:H00428
Renal tubular acidosis	KEGG:H02310
Distal renal tubular acidosis	KEGG:H00428
Renal tubular acidosis	PMID:9916796
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R