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ATP6V1B1 (ATPase H+ transporting V1 subunit B1)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
525
Gene nameGene Name - the full gene name approved by the HGNC.
ATPase H+ transporting V1 subunit B1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ATP6V1B1
SynonymsGene synonyms aliases
ATP6B1, DRTA2, RTA1B, VATB, VMA2, VPP3
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.3
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs121964879 C>T Pathogenic Genic upstream transcript variant, stop gained, coding sequence variant
rs121964880 T>C Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs121964881 G>A Pathogenic Coding sequence variant, missense variant
rs145536062 C>T Pathogenic-likely-pathogenic, likely-pathogenic Coding sequence variant, stop gained
rs145735762 C>G,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT568914 hsa-miR-1321 PAR-CLIP 20371350
MIRT568912 hsa-miR-4739 PAR-CLIP 20371350
MIRT568913 hsa-miR-4756-5p PAR-CLIP 20371350
MIRT568911 hsa-miR-1247-3p PAR-CLIP 20371350
MIRT568910 hsa-miR-4537 PAR-CLIP 20371350
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IMP 16433694
GO:0003091 Process Renal water homeostasis IEA
GO:0003096 Process Renal sodium ion transport IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0005524 Function ATP binding IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P15313
Protein 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)
Protein function Non-catalytic 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:16769747). V-ATPase
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02874 ATP-synt_ab_N
44 → 110
ATP synthase alpha/beta family, beta-barrel domain
 Domain
PF00006 ATP-synt_ab
167 → 393
ATP synthase alpha/beta family, nucleotide-binding domain
 Domain
Sequence 
MAMEIDSRPGGLPGSSCNLGAAREHMQAVTRNYITHPRVTYRTVCSVNGPLVVLDRVKFA
QYAEIVHFTLPDGTQRSGQVLEVAGTKAIVQVFEGTSGIDARKTTCEFTGDILRTPVSED
MLGRVFNGSGKPIDKGPVVMAEDFLDINGQPINPHSRIYPEEMIQTGISPIDVMNSIARG
QKIPIFSAAGLPHNEIAAQICRQAGLVKKSKAVLDYHDDNFAIVFAAMGVNMETARFFKS
DFEQNGTMGNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEA
LREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRGGSITQIPILTMPNDDITHPIP
DLTGFITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHGDVSNQLYACY
AIGKDVQAMKAVVGEEALTSEDLLYLEFLQKFEKNFINQGPYENRSVFESLDLGWKLLRI
FPKEMLKRIPQAVIDEFYSREGALQDLAPDTAL
Sequence length 513
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Oxidative phosphorylation
Metabolic pathways
Phagosome
mTOR signaling pathway
Synaptic vesicle cycle
Collecting duct acid secretion
Vibrio cholerae infection
Epithelial cell signaling in Helicobacter pylori infection
Human papillomavirus infection
Rheumatoid arthritis 		  ROS and RNS production in phagocytes
Insulin receptor recycling
Transferrin endocytosis and recycling
Amino acids regulate mTORC1
Ion channel transport
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Distal renal tubular acidosis Distal Renal Tubular Acidosis rs121964880, rs769664228, rs121912744, rs121912745, rs121912746, rs121912748, rs121912751, rs878853002, rs781838938, rs782152033, rs1443883930
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Multiple congenital anomalies Multiple congenital anomalies rs1057517732 27247958, 7499943, 28188436, 23729491, 23923981, 16769747, 9916796, 16611712, 11045400
Renal tubular acidosis RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, Autosomal recessive distal renal tubular acidosis rs121908367, rs28939081, rs769664228, rs121912745, rs121912748, rs121912751, rs121912752, rs28931584, rs121912754, rs878853002, rs763982675, rs769164245, rs768446132, rs1443883930, rs754517968, rs1450564765, rs934266733, rs1584907924, rs753232747, rs1584934951 23729491
Unknown
Disease name Disease term dbSNP ID References
Dysmorphic features Dysmorphic features 27247958, 23729491, 16611712, 23923981, 16769747, 7499943, 28188436, 9916796, 11045400
Nephritis Nephritis, Interstitial, Nephritis, Tubulointerstitial
Nephrocalcinosis Nephrocalcinosis 28893421
Nephrolithiasis Nephrolithiasis 28893421

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