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Protein

V-type proton ATPase 116 kDa subunit a isoform 4

Gene

ATP6V0A4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Part of the proton channel of the V-ATPase that is involved in normal vectorial acid transport into the urine by the kidney.By similarity

GO - Molecular functioni

  • ATPase binding Source: UniProtKB
  • proton-transporting ATPase activity, rotational mechanism Source: GO_Central

GO - Biological processi

  • ATP hydrolysis coupled proton transport Source: Ensembl
  • ATP synthesis coupled proton transport Source: GO_Central
  • excretion Source: HGNC
  • insulin receptor signaling pathway Source: Reactome
  • ion transmembrane transport Source: Reactome
  • ossification Source: HGNC
  • proton transmembrane transport Source: HGNC
  • regulation of pH Source: HGNC
  • sensory perception of sound Source: HGNC
  • transferrin transport Source: Reactome
  • vacuolar acidification Source: GO_Central
  • vacuolar proton-transporting V-type ATPase complex assembly Source: GO_Central

Keywordsi

Biological processHydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000105929-MONOMER
ReactomeiR-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-77387 Insulin receptor recycling
R-HSA-917977 Transferrin endocytosis and recycling
R-HSA-983712 Ion channel transport

Protein family/group databases

TCDBi3.A.2.2.4 the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily

Names & Taxonomyi

Protein namesi
Recommended name:
V-type proton ATPase 116 kDa subunit a isoform 4
Short name:
V-ATPase 116 kDa isoform a4
Alternative name(s):
Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4
Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform
Gene namesi
Name:ATP6V0A4
Synonyms:ATP6N1B, ATP6N2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000105929.15
HGNCiHGNC:866 ATP6V0A4
MIMi605239 gene
neXtProtiNX_Q9HBG4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 390CytoplasmicSequence analysisAdd BLAST390
Transmembranei391 – 409HelicalSequence analysisAdd BLAST19
Topological domaini410 – 411VacuolarSequence analysis2
Transmembranei412 – 428HelicalSequence analysisAdd BLAST17
Topological domaini429 – 443CytoplasmicSequence analysisAdd BLAST15
Transmembranei444 – 473HelicalSequence analysisAdd BLAST30
Topological domaini474 – 538VacuolarSequence analysisAdd BLAST65
Transmembranei539 – 558HelicalSequence analysisAdd BLAST20
Topological domaini559 – 576CytoplasmicSequence analysisAdd BLAST18
Transmembranei577 – 597HelicalSequence analysisAdd BLAST21
Topological domaini598 – 642VacuolarSequence analysisAdd BLAST45
Transmembranei643 – 662HelicalSequence analysisAdd BLAST20
Topological domaini663 – 727CytoplasmicSequence analysisAdd BLAST65
Transmembranei728 – 752HelicalSequence analysisAdd BLAST25
Topological domaini753 – 773VacuolarSequence analysisAdd BLAST21
Transmembranei774 – 812HelicalSequence analysisAdd BLAST39
Topological domaini813 – 840CytoplasmicSequence analysisAdd BLAST28

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Renal tubular acidosis, distal, autosomal recessive (RTADR)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.
See also OMIM:602722
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020993175G → D in RTADR. 1 Publication1
Natural variantiVAR_020994237Missing in RTADR. 1 Publication1
Natural variantiVAR_020995449R → H in RTADR. 1 Publication1
Natural variantiVAR_017255524P → L in RTADR. 1 PublicationCorresponds to variant dbSNP:rs121908368EnsemblClinVar.1
Natural variantiVAR_017256580M → T in RTADR. 1 PublicationCorresponds to variant dbSNP:rs3807153EnsemblClinVar.1
Natural variantiVAR_020996807R → Q in RTADR. 1 PublicationCorresponds to variant dbSNP:rs28939081EnsemblClinVar.1
Natural variantiVAR_017257820G → R in RTADR. 1 PublicationCorresponds to variant dbSNP:rs267606671EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi50617
MalaCardsiATP6V0A4
MIMi602722 phenotype
OpenTargetsiENSG00000105929
Orphaneti402041 Autosomal recessive distal renal tubular acidosis
PharmGKBiPA25147

Polymorphism and mutation databases

BioMutaiATP6V0A4
DMDMi308153516

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001192191 – 840V-type proton ATPase 116 kDa subunit a isoform 4Add BLAST840

Proteomic databases

EPDiQ9HBG4
MaxQBiQ9HBG4
PaxDbiQ9HBG4
PeptideAtlasiQ9HBG4
PRIDEiQ9HBG4
ProteomicsDBi81539

PTM databases

iPTMnetiQ9HBG4
PhosphoSitePlusiQ9HBG4

Expressioni

Tissue specificityi

Expressed in adult and fetal kidney. Found in the inner ear.1 Publication

Gene expression databases

BgeeiENSG00000105929
CleanExiHS_ATP6V0A4
ExpressionAtlasiQ9HBG4 baseline and differential
GenevisibleiQ9HBG4 HS

Organism-specific databases

HPAiHPA018029
HPA064555

Interactioni

Subunit structurei

The V-ATPase is a heteromultimeric enzyme composed of at least thirteen different subunits. It has a membrane peripheral V1 sector for ATP hydrolysis and an integral V0 for proton translocation. The V1 sector comprises subunits A-H, whereas V0 includes subunits a, d, c, c', and c''.

GO - Molecular functioni

  • ATPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi119097, 3 interactors
STRINGi9606.ENSP00000253856

Structurei

3D structure databases

ProteinModelPortaliQ9HBG4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the V-ATPase 116 kDa subunit family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2189 Eukaryota
COG1269 LUCA
GeneTreeiENSGT00390000004941
HOGENOMiHOG000037059
HOVERGENiHBG014606
InParanoidiQ9HBG4
KOiK02154
OMAiFILRANH
OrthoDBiEOG091G01BI
PhylomeDBiQ9HBG4
TreeFamiTF300346

Family and domain databases

InterProiView protein in InterPro
IPR002490 V-ATPase_116kDa_su
IPR026028 V-type_ATPase_116kDa_su_euka
PANTHERiPTHR11629 PTHR11629, 1 hit
PfamiView protein in Pfam
PF01496 V_ATPase_I, 1 hit
PIRSFiPIRSF001293 ATP6V0A1, 1 hit

Sequencei

Sequence statusi: Complete.

Q9HBG4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVSVFRSEEM CLSQLFLQVE AAYCCVAELG ELGLVQFKDL NMNVNSFQRK
60 70 80 90 100
FVNEVRRCES LERILRFLED EMQNEIVVQL LEKSPLTPLP REMITLETVL
110 120 130 140 150
EKLEGELQEA NQNQQALKQS FLELTELKYL LKKTQDFFET ETNLADDFFT
160 170 180 190 200
EDTSGLLELK AVPAYMTGKL GFIAGVINRE RMASFERLLW RICRGNVYLK
210 220 230 240 250
FSEMDAPLED PVTKEEIQKN IFIIFYQGEQ LRQKIKKICD GFRATVYPCP
260 270 280 290 300
EPAVERREML ESVNVRLEDL ITVITQTESH RQRLLQEAAA NWHSWLIKVQ
310 320 330 340 350
KMKAVYHILN MCNIDVTQQC VIAEIWFPVA DATRIKRALE QGMELSGSSM
360 370 380 390 400
APIMTTVQSK TAPPTFNRTN KFTAGFQNIV DAYGVGSYRE INPAPYTIIT
410 420 430 440 450
FPFLFAVMFG DCGHGTVMLL AALWMILNER RLLSQKTDNE IWNTFFHGRY
460 470 480 490 500
LILLMGIFSI YTGLIYNDCF SKSLNIFGSS WSVQPMFRNG TWNTHVMEES
510 520 530 540 550
LYLQLDPAIP GVYFGNPYPF GIDPIWNLAS NKLTFLNSYK MKMSVILGIV
560 570 580 590 600
QMVFGVILSL FNHIYFRRTL NIILQFIPEM IFILCLFGYL VFMIIFKWCC
610 620 630 640 650
FDVHVSQHAP SILIHFINMF LFNYSDSSNA PLYKHQQEVQ SFFVVMALIS
660 670 680 690 700
VPWMLLIKPF ILRASHRKSQ LQASRIQEDA TENIEGDSSS PSSRSGQRTS
710 720 730 740 750
ADTHGALDDH GEEFNFGDVF VHQAIHTIEY CLGCISNTAS YLRLWALSLA
760 770 780 790 800
HAQLSEVLWT MVMNSGLQTR GWGGIVGVFI IFAVFAVLTV AILLIMEGLS
810 820 830 840
AFLHALRLHW VEFQNKFYVG DGYKFSPFSF KHILDGTAEE
Length:840
Mass (Da):96,386
Last modified:October 5, 2010 - v2
Checksum:i449964EBC01D4649
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti252P → R in AAI09305 (PubMed:15489334).Curated1
Sequence conflicti252P → R in AAI09306 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0209922V → A2 PublicationsCorresponds to variant dbSNP:rs10258719EnsemblClinVar.1
Natural variantiVAR_020993175G → D in RTADR. 1 Publication1
Natural variantiVAR_020994237Missing in RTADR. 1 Publication1
Natural variantiVAR_020995449R → H in RTADR. 1 Publication1
Natural variantiVAR_017255524P → L in RTADR. 1 PublicationCorresponds to variant dbSNP:rs121908368EnsemblClinVar.1
Natural variantiVAR_066612554F → L. Corresponds to variant dbSNP:rs1026435Ensembl.1
Natural variantiVAR_017256580M → T in RTADR. 1 PublicationCorresponds to variant dbSNP:rs3807153EnsemblClinVar.1
Natural variantiVAR_066613604H → Q. Corresponds to variant dbSNP:rs3807154Ensembl.1
Natural variantiVAR_020996807R → Q in RTADR. 1 PublicationCorresponds to variant dbSNP:rs28939081EnsemblClinVar.1
Natural variantiVAR_017257820G → R in RTADR. 1 PublicationCorresponds to variant dbSNP:rs267606671EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF245517 mRNA Translation: AAG11415.1
AK292945 mRNA Translation: BAF85634.1
AC018663 Genomic DNA No translation available.
AC020983 Genomic DNA No translation available.
CH236950 Genomic DNA Translation: EAL24043.1
CH471070 Genomic DNA Translation: EAW83892.1
BC109304 mRNA Translation: AAI09305.1
BC109305 mRNA Translation: AAI09306.1
CCDSiCCDS5849.1
RefSeqiNP_065683.2, NM_020632.2
NP_570855.2, NM_130840.2
NP_570856.2, NM_130841.2
XP_005250450.1, XM_005250393.1
XP_005250451.1, XM_005250394.3
UniGeneiHs.98967

Genome annotation databases

EnsembliENST00000310018; ENSP00000308122; ENSG00000105929
ENST00000353492; ENSP00000253856; ENSG00000105929
ENST00000393054; ENSP00000376774; ENSG00000105929
ENST00000645515; ENSP00000496421; ENSG00000105929
GeneIDi50617
KEGGihsa:50617
UCSCiuc003vuf.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiVPP4_HUMAN
AccessioniPrimary (citable) accession number: Q9HBG4
Secondary accession number(s): A4D1R4, A8KA80, Q32M47
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 14, 2003
Last sequence update: October 5, 2010
Last modified: July 18, 2018
This is version 148 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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