UniProtKB - P38606 (VATA_HUMAN)
V-type proton ATPase catalytic subunit A
ATP6V1A
Functioni
Catalytic activityi
- EC:7.1.2.2
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 250 – 257 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- proton-transporting ATPase activity, rotational mechanism Source: GO_Central
- proton-transporting ATP synthase activity, rotational mechanism Source: UniProtKB-EC
GO - Biological processi
- cellular iron ion homeostasis Source: UniProtKB
- cellular response to increased oxygen levels Source: UniProtKB
- insulin receptor signaling pathway Source: Reactome
- ion transmembrane transport Source: Reactome
- phagosome acidification Source: Reactome
- regulation of macroautophagy Source: ParkinsonsUK-UCL
- transferrin transport Source: Reactome
Keywordsi
Molecular function | Translocase |
Biological process | Hydrogen ion transport, Ion transport, Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BioCyci | MetaCyc:HS03781-MONOMER |
PathwayCommonsi | P38606 |
Reactomei | R-HSA-1222556, ROS and RNS production in phagocytes R-HSA-77387, Insulin receptor recycling R-HSA-917977, Transferrin endocytosis and recycling R-HSA-9639288, Amino acids regulate mTORC1 R-HSA-983712, Ion channel transport |
SIGNORi | P38606 |
Protein family/group databases
TCDBi | 3.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 catalytic subunit A (EC:7.1.2.2)Short name: V-ATPase subunit A Alternative name(s): V-ATPase 69 kDa subunit Vacuolar ATPase isoform VA68 Vacuolar proton pump subunit alpha |
Gene namesi | Name:ATP6V1A Synonyms:ATP6A1, ATP6V1A1, VPP2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000114573.9 |
HGNCi | HGNC:851, ATP6V1A |
MIMi | 607027, gene |
neXtProti | NX_P38606 |
Subcellular locationi
Other locations
- Cytoplasm 1 Publication
Cytosol
- cytosol Source: UniProtKB
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Lysosome
- lysosomal membrane Source: UniProtKB
Plasma Membrane
- apical plasma membrane Source: Ensembl
- plasma membrane Source: UniProtKB
Other locations
- microvillus Source: Ensembl
- proton-transporting two-sector ATPase complex Source: ProtInc
- proton-transporting V-type ATPase, V1 domain Source: InterPro
- vacuolar membrane Source: GO_Central
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Cutis laxa, autosomal recessive, 2D (ARCL2D)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078606 | 72 | G → D in ARCL2D. 1 PublicationCorresponds to variant dbSNP:rs1060505037EnsemblClinVar. | 1 | |
Natural variantiVAR_078607 | 338 | R → C in ARCL2D. 1 PublicationCorresponds to variant dbSNP:rs1060505036EnsemblClinVar. | 1 |
Epileptic encephalopathy, infantile or early childhood, 3 (IECEE3)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080995 | 27 | P → R in IECEE3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553709380EnsemblClinVar. | 1 | |
Natural variantiVAR_080996 | 100 | D → Y in IECEE3; loss-of-function variant leading to increased pH in intracellular organelles; affects neurite arborization and impairs the formation and maintenance of excitatory synapses, when tested in a heterologous system; not effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs1553709855EnsemblClinVar. | 1 | |
Natural variantiVAR_080998 | 349 | D → N in IECEE3; gain-of-function variant leading to decreased pH in intracellular organelles; affects neurite arborization and impairs the formation and maintenance of excitatory synapses, when tested in a heterologous system; not effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs1553710664EnsemblClinVar. | 1 | |
Natural variantiVAR_080999 | 371 | D → G in IECEE3; unknown pathological significance. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, EpilepsyOrganism-specific databases
DisGeNETi | 523 |
MalaCardsi | ATP6V1A |
MIMi | 617403, phenotype 618012, phenotype |
OpenTargetsi | ENSG00000114573 |
PharmGKBi | PA25152 |
Miscellaneous databases
Pharosi | P38606, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4295756 |
DrugBanki | DB00630, Alendronic acid DB06733, Bafilomycin A1 DB06734, Bafilomycin B1 DB01077, Etidronic acid DB01133, Tiludronic acid |
Polymorphism and mutation databases
BioMutai | ATP6V1A |
DMDMi | 22096378 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
ChainiPRO_0000144560 | 1 – 617 | V-type proton ATPase catalytic subunit AAdd BLAST | 617 | ||
Isoform 2 (identifier: P38606-2) | |||||
Initiator methioninei | RemovedCombined sources |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Modified residuei | 136 | PhosphothreonineCombined sources | 1 | ||
Modified residuei | 384 | PhosphoserineCombined sources | 1 | ||
Isoform 2 (identifier: P38606-2) | |||||
Modified residuei | 2 | N-acetylalanineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P38606 |
jPOSTi | P38606 |
MassIVEi | P38606 |
MaxQBi | P38606 |
PaxDbi | P38606 |
PeptideAtlasi | P38606 |
PRIDEi | P38606 |
ProteomicsDBi | 55303 [P38606-1] 6360 |
PTM databases
iPTMneti | P38606 |
MetOSitei | P38606 |
PhosphoSitePlusi | P38606 |
SwissPalmi | P38606 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000114573, Expressed in Brodmann (1909) area 23 and 250 other tissues |
ExpressionAtlasi | P38606, baseline and differential |
Genevisiblei | P38606, HS |
Organism-specific databases
HPAi | ENSG00000114573, Low tissue specificity |
Interactioni
Subunit structurei
V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein).
Protein-protein interaction databases
BioGRIDi | 107007, 184 interactors |
CORUMi | P38606 |
IntActi | P38606, 104 interactors |
MINTi | P38606 |
STRINGi | 9606.ENSP00000273398 |
Miscellaneous databases
RNActi | P38606, protein |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG1352, Eukaryota |
GeneTreei | ENSGT00550000074787 |
HOGENOMi | CLU_008162_3_1_1 |
InParanoidi | P38606 |
OMAi | QQLAKWS |
OrthoDBi | 241249at2759 |
PhylomeDBi | P38606 |
TreeFami | TF300811 |
Family and domain databases
Gene3Di | 1.10.1140.10, 1 hit 2.40.30.20, 1 hit |
HAMAPi | MF_00309, ATP_synth_A_arch, 1 hit |
InterProi | View protein in InterPro IPR031686, ATP-synth_a_Xtn IPR023366, ATP_synth_asu-like_sf IPR020003, ATPase_a/bsu_AS IPR004100, ATPase_F1/V1/A1_a/bsu_N IPR036121, ATPase_F1/V1/A1_a/bsu_N_sf IPR000194, ATPase_F1/V1/A1_a/bsu_nucl-bd IPR024034, ATPase_F1/V1_b/a_C IPR005725, ATPase_V1-cplx_asu IPR027417, P-loop_NTPase IPR022878, V-ATPase_asu |
PANTHERi | PTHR43607, PTHR43607, 1 hit |
Pfami | View protein in Pfam PF00006, ATP-synt_ab, 1 hit PF02874, ATP-synt_ab_N, 1 hit PF16886, ATP-synt_ab_Xtn, 1 hit |
SUPFAMi | SSF50615, SSF50615, 1 hit SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR01042, V-ATPase_V1_A, 1 hit |
PROSITEi | View protein in PROSITE PS00152, ATPASE_ALPHA_BETA, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDFSKLPKIL DEDKESTFGY VHGVSGPVVT ACDMAGAAMY ELVRVGHSEL
60 70 80 90 100
VGEIIRLEGD MATIQVYEET SGVSVGDPVL RTGKPLSVEL GPGIMGAIFD
110 120 130 140 150
GIQRPLSDIS SQTQSIYIPR GVNVSALSRD IKWDFTPCKN LRVGSHITGG
160 170 180 190 200
DIYGIVSENS LIKHKIMLPP RNRGTVTYIA PPGNYDTSDV VLELEFEGVK
210 220 230 240 250
EKFTMVQVWP VRQVRPVTEK LPANHPLLTG QRVLDALFPC VQGGTTAIPG
260 270 280 290 300
AFGCGKTVIS QSLSKYSNSD VIIYVGCGER GNEMSEVLRD FPELTMEVDG
310 320 330 340 350
KVESIMKRTA LVANTSNMPV AAREASIYTG ITLSEYFRDM GYHVSMMADS
360 370 380 390 400
TSRWAEALRE ISGRLAEMPA DSGYPAYLGA RLASFYERAG RVKCLGNPER
410 420 430 440 450
EGSVSIVGAV SPPGGDFSDP VTSATLGIVQ VFWGLDKKLA QRKHFPSVNW
460 470 480 490 500
LISYSKYMRA LDEYYDKHFT EFVPLRTKAK EILQEEEDLA EIVQLVGKAS
510 520 530 540 550
LAETDKITLE VAKLIKDDFL QQNGYTPYDR FCPFYKTVGM LSNMIAFYDM
560 570 580 590 600
ARRAVETTAQ SDNKITWSII REHMGDILYK LSSMKFKDPL KDGEAKIKSD
610
YAQLLEDMQN AFRSLED
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JVW8 | C9JVW8_HUMAN | V-type proton ATPase catalytic subu... | ATP6V1A | 221 | Annotation score: | ||
C9JA17 | C9JA17_HUMAN | V-type proton ATPase catalytic subu... | ATP6V1A | 184 | Annotation score: | ||
F8WDJ3 | F8WDJ3_HUMAN | V-type proton ATPase catalytic subu... | ATP6V1A | 49 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 71 | S → C in AAA83249 (PubMed:8463241).Curated | 1 | |
Sequence conflicti | 89 – 90 | EL → DV in AAA83249 (PubMed:8463241).Curated | 2 | |
Sequence conflicti | 211 | V → A in AAA83249 (PubMed:8463241).Curated | 1 | |
Sequence conflicti | 211 | V → A in AAF14870 (PubMed:10931946).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080994 | 11 | D → N Found in a patient with autism spectrum disorder; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs746407800Ensembl. | 1 | |
Natural variantiVAR_080995 | 27 | P → R in IECEE3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553709380EnsemblClinVar. | 1 | |
Natural variantiVAR_078606 | 72 | G → D in ARCL2D. 1 PublicationCorresponds to variant dbSNP:rs1060505037EnsemblClinVar. | 1 | |
Natural variantiVAR_080996 | 100 | D → Y in IECEE3; loss-of-function variant leading to increased pH in intracellular organelles; affects neurite arborization and impairs the formation and maintenance of excitatory synapses, when tested in a heterologous system; not effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs1553709855EnsemblClinVar. | 1 | |
Natural variantiVAR_080997 | 249 | P → R Found in a patient with severe developmental disorder; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_078607 | 338 | R → C in ARCL2D. 1 PublicationCorresponds to variant dbSNP:rs1060505036EnsemblClinVar. | 1 | |
Natural variantiVAR_080998 | 349 | D → N in IECEE3; gain-of-function variant leading to decreased pH in intracellular organelles; affects neurite arborization and impairs the formation and maintenance of excitatory synapses, when tested in a heterologous system; not effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs1553710664EnsemblClinVar. | 1 | |
Natural variantiVAR_080999 | 371 | D → G in IECEE3; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056408 | 1 – 33 | Missing in isoform 2. 1 PublicationAdd BLAST | 33 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L09235 mRNA Translation: AAA83249.1 AF113129 mRNA Translation: AAF14870.1 BT006672 mRNA Translation: AAP35318.1 AK293804 mRNA Translation: BAH11601.1 AK314779 mRNA Translation: BAG37315.1 AC079944 Genomic DNA No translation available. AC108693 Genomic DNA No translation available. CH471052 Genomic DNA Translation: EAW79625.1 CH471052 Genomic DNA Translation: EAW79626.1 BC013138 mRNA Translation: AAH13138.1 |
CCDSi | CCDS2976.1 [P38606-1] |
PIRi | B46091 |
RefSeqi | NP_001681.2, NM_001690.3 [P38606-1] |
Genome annotation databases
Ensembli | ENST00000273398; ENSP00000273398; ENSG00000114573 [P38606-1] |
GeneIDi | 523 |
KEGGi | hsa:523 |
UCSCi | uc003eao.4, human [P38606-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L09235 mRNA Translation: AAA83249.1 AF113129 mRNA Translation: AAF14870.1 BT006672 mRNA Translation: AAP35318.1 AK293804 mRNA Translation: BAH11601.1 AK314779 mRNA Translation: BAG37315.1 AC079944 Genomic DNA No translation available. AC108693 Genomic DNA No translation available. CH471052 Genomic DNA Translation: EAW79625.1 CH471052 Genomic DNA Translation: EAW79626.1 BC013138 mRNA Translation: AAH13138.1 |
CCDSi | CCDS2976.1 [P38606-1] |
PIRi | B46091 |
RefSeqi | NP_001681.2, NM_001690.3 [P38606-1] |
3D structure databases
SMRi | P38606 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107007, 184 interactors |
CORUMi | P38606 |
IntActi | P38606, 104 interactors |
MINTi | P38606 |
STRINGi | 9606.ENSP00000273398 |
Chemistry databases
ChEMBLi | CHEMBL4295756 |
DrugBanki | DB00630, Alendronic acid DB06733, Bafilomycin A1 DB06734, Bafilomycin B1 DB01077, Etidronic acid DB01133, Tiludronic acid |
Protein family/group databases
TCDBi | 3.A.2.2.4, the h(+)- or na(+)-translocating f-type, v-type and a-type atpase (f-atpase) superfamily |
PTM databases
iPTMneti | P38606 |
MetOSitei | P38606 |
PhosphoSitePlusi | P38606 |
SwissPalmi | P38606 |
Polymorphism and mutation databases
BioMutai | ATP6V1A |
DMDMi | 22096378 |
Proteomic databases
EPDi | P38606 |
jPOSTi | P38606 |
MassIVEi | P38606 |
MaxQBi | P38606 |
PaxDbi | P38606 |
PeptideAtlasi | P38606 |
PRIDEi | P38606 |
ProteomicsDBi | 55303 [P38606-1] 6360 |
Protocols and materials databases
Antibodypediai | 32600, 179 antibodies |
DNASUi | 523 |
Genome annotation databases
Ensembli | ENST00000273398; ENSP00000273398; ENSG00000114573 [P38606-1] |
GeneIDi | 523 |
KEGGi | hsa:523 |
UCSCi | uc003eao.4, human [P38606-1] |
Organism-specific databases
CTDi | 523 |
DisGeNETi | 523 |
EuPathDBi | HostDB:ENSG00000114573.9 |
GeneCardsi | ATP6V1A |
HGNCi | HGNC:851, ATP6V1A |
HPAi | ENSG00000114573, Low tissue specificity |
MalaCardsi | ATP6V1A |
MIMi | 607027, gene 617403, phenotype 618012, phenotype |
neXtProti | NX_P38606 |
OpenTargetsi | ENSG00000114573 |
PharmGKBi | PA25152 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1352, Eukaryota |
GeneTreei | ENSGT00550000074787 |
HOGENOMi | CLU_008162_3_1_1 |
InParanoidi | P38606 |
OMAi | QQLAKWS |
OrthoDBi | 241249at2759 |
PhylomeDBi | P38606 |
TreeFami | TF300811 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS03781-MONOMER |
PathwayCommonsi | P38606 |
Reactomei | R-HSA-1222556, ROS and RNS production in phagocytes R-HSA-77387, Insulin receptor recycling R-HSA-917977, Transferrin endocytosis and recycling R-HSA-9639288, Amino acids regulate mTORC1 R-HSA-983712, Ion channel transport |
SIGNORi | P38606 |
Miscellaneous databases
BioGRID-ORCSi | 523, 728 hits in 853 CRISPR screens |
ChiTaRSi | ATP6V1A, human |
GeneWikii | ATP6V1A |
GenomeRNAii | 523 |
Pharosi | P38606, Tbio |
PROi | PR:P38606 |
RNActi | P38606, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000114573, Expressed in Brodmann (1909) area 23 and 250 other tissues |
ExpressionAtlasi | P38606, baseline and differential |
Genevisiblei | P38606, HS |
Family and domain databases
Gene3Di | 1.10.1140.10, 1 hit 2.40.30.20, 1 hit |
HAMAPi | MF_00309, ATP_synth_A_arch, 1 hit |
InterProi | View protein in InterPro IPR031686, ATP-synth_a_Xtn IPR023366, ATP_synth_asu-like_sf IPR020003, ATPase_a/bsu_AS IPR004100, ATPase_F1/V1/A1_a/bsu_N IPR036121, ATPase_F1/V1/A1_a/bsu_N_sf IPR000194, ATPase_F1/V1/A1_a/bsu_nucl-bd IPR024034, ATPase_F1/V1_b/a_C IPR005725, ATPase_V1-cplx_asu IPR027417, P-loop_NTPase IPR022878, V-ATPase_asu |
PANTHERi | PTHR43607, PTHR43607, 1 hit |
Pfami | View protein in Pfam PF00006, ATP-synt_ab, 1 hit PF02874, ATP-synt_ab_N, 1 hit PF16886, ATP-synt_ab_Xtn, 1 hit |
SUPFAMi | SSF50615, SSF50615, 1 hit SSF52540, SSF52540, 1 hit |
TIGRFAMsi | TIGR01042, V-ATPase_V1_A, 1 hit |
PROSITEi | View protein in PROSITE PS00152, ATPASE_ALPHA_BETA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | VATA_HUMAN | |
Accessioni | P38606Primary (citable) accession number: P38606 Secondary accession number(s): B2RBR8 Q9UHY3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1994 |
Last sequence update: | August 2, 2002 | |
Last modified: | December 2, 2020 | |
This is version 202 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations