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Protein

V-type proton ATPase catalytic subunit A

Gene

ATP6V1A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Catalytic activityi

ATP + H2O + H+(In) = ADP + phosphate + H+(Out).

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi250 – 257ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processHydrogen ion transport, Ion transport, Transport
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS03781-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 catalytic subunit A (EC:3.6.3.14)
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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:851. ATP6V1A.

Subcellular locationi

GO - Cellular componenti

  • apical plasma membrane Source: Ensembl
  • cytosol Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
  • lysosomal membrane Source: UniProtKB
  • microvillus Source: Ensembl
  • mitochondrion Source: Ensembl
  • myelin sheath Source: Ensembl
  • plasma membrane Source: UniProtKB
  • proton-transporting two-sector ATPase complex Source: ProtInc
  • proton-transporting V-type ATPase, V1 domain Source: InterPro

Pathology & Biotechi

Involvement in diseasei

Cutis laxa, autosomal recessive, 2D (ARCL2D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.
See also OMIM:617403
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07860672G → D in ARCL2D. 1 Publication1
Natural variantiVAR_078607338R → C in ARCL2D. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi523.
MalaCardsiATP6V1A.
MIMi617403. phenotype.
OpenTargetsiENSG00000114573.
PharmGKBiPA25152.

Chemistry databases

DrugBankiDB00630. Alendronic acid.
DB06733. Bafilomycin A1.
DB06734. Bafilomycin B1.
DB01077. Etidronic acid.
DB01133. Tiludronic acid.

Polymorphism and mutation databases

BioMutaiATP6V1A.
DMDMi22096378.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001445601 – 617V-type proton ATPase catalytic subunit AAdd BLAST617
Isoform 2 (identifier: P38606-2)
Initiator methionineiRemovedCombined sources

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei136PhosphothreonineCombined sources1
Modified residuei384PhosphoserineCombined sources1
Isoform 2 (identifier: P38606-2)
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP38606.
MaxQBiP38606.
PaxDbiP38606.
PeptideAtlasiP38606.
PRIDEiP38606.

PTM databases

iPTMnetiP38606.
PhosphoSitePlusiP38606.
SwissPalmiP38606.

Expressioni

Tissue specificityi

High expression in the skin.1 Publication

Gene expression databases

BgeeiENSG00000114573.
CleanExiHS_ATP6V1A.
ExpressionAtlasiP38606. baseline and differential.
GenevisibleiP38606. HS.

Organism-specific databases

HPAiCAB006910.
HPA035083.
HPA035084.

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

BioGridi107007. 100 interactors.
IntActiP38606. 90 interactors.
MINTiMINT-224589.
STRINGi9606.ENSP00000273398.

Structurei

3D structure databases

ProteinModelPortaliP38606.
SMRiP38606.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ATPase alpha/beta chains family.Curated

Phylogenomic databases

eggNOGiKOG1352. Eukaryota.
COG1155. LUCA.
GeneTreeiENSGT00550000074787.
HOGENOMiHOG000161057.
HOVERGENiHBG053351.
InParanoidiP38606.
KOiK02145.
OMAiRIVKTFW.
OrthoDBiEOG091G03SR.
PhylomeDBiP38606.
TreeFamiTF300811.

Family and domain databases

Gene3Di1.10.1140.10. 1 hit.
HAMAPiMF_00309. ATP_synth_A_arch. 1 hit.
InterProiView protein in InterPro
IPR031686. ATP-synth_a_Xtn.
IPR020003. ATPase_a/bsu_AS.
IPR004100. ATPase_F1/V1/A1_a/bsu_N.
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.
PANTHERiPTHR43607. PTHR43607. 1 hit.
PfamiView protein in Pfam
PF00006. ATP-synt_ab. 1 hit.
PF02874. ATP-synt_ab_N. 1 hit.
PF16886. ATP-synt_ab_Xtn. 1 hit.
SUPFAMiSSF50615. SSF50615. 1 hit.
SSF52540. SSF52540. 1 hit.
TIGRFAMsiTIGR01042. V-ATPase_V1_A. 1 hit.
PROSITEiView protein in PROSITE
PS00152. ATPASE_ALPHA_BETA. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P38606-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:617
Mass (Da):68,304
Last modified:August 2, 2002 - v2
Checksum:iDB409A8731D772CB
GO
Isoform 2 (identifier: P38606-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-33: Missing.

Note: No experimental confirmation available.Combined sources
Show »
Length:584
Mass (Da):64,736
Checksum:i6F677073A4B4A48B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti71S → C in AAA83249 (PubMed:8463241).Curated1
Sequence conflicti89 – 90EL → DV in AAA83249 (PubMed:8463241).Curated2
Sequence conflicti211V → A in AAA83249 (PubMed:8463241).Curated1
Sequence conflicti211V → A in AAF14870 (PubMed:10931946).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07860672G → D in ARCL2D. 1 Publication1
Natural variantiVAR_078607338R → C in ARCL2D. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0564081 – 33Missing in isoform 2. 1 PublicationAdd BLAST33

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.
CCDSiCCDS2976.1. [P38606-1]
PIRiB46091.
RefSeqiNP_001681.2. NM_001690.3. [P38606-1]
UniGeneiHs.477155.

Genome annotation databases

EnsembliENST00000273398; ENSP00000273398; ENSG00000114573. [P38606-1]
GeneIDi523.
KEGGihsa:523.
UCSCiuc003eao.4. human. [P38606-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiVATA_HUMAN
AccessioniPrimary (citable) accession number: P38606
Secondary accession number(s): B2RBR8
, B7Z1R5, D3DN75, Q53YD9, Q96DY6, Q9UHY3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: August 2, 2002
Last modified: August 30, 2017
This is version 177 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 3
    Human chromosome 3: 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