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Protein

V-type proton ATPase subunit E 1

Gene

ATP6V1E1

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

Functioni

Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

GO - Molecular functioni

GO - Biological processi

  • ATP hydrolysis coupled proton transport Source: Ensembl
  • insulin receptor signaling pathway Source: Reactome
  • ion transmembrane transport Source: Reactome
  • phagosome acidification Source: Reactome
  • proton transport Source: ProtInc
  • regulation of macroautophagy Source: ParkinsonsUK-UCL
  • transferrin transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Hydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS05489-MONOMER.
ZFISH:HS05489-MONOMER.
ReactomeiR-HSA-1222556. ROS, RNS production in response to bacteria.
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 subunit E 1
Short name:
V-ATPase subunit E 1
Alternative name(s):
V-ATPase 31 kDa subunit
Short name:
p31
Vacuolar proton pump subunit E 1
Gene namesi
Name:ATP6V1E1
Synonyms:ATP6E, ATP6E2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:857. ATP6V1E1.

Subcellular locationi

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • cytosol Source: UniProtKB
  • endosome Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • lysosomal membrane Source: UniProtKB
  • microvillus Source: Ensembl
  • mitochondrion Source: Ensembl
  • proton-transporting two-sector ATPase complex Source: ProtInc
  • proton-transporting two-sector ATPase complex, catalytic domain Source: InterPro
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi529.
OpenTargetsiENSG00000131100.
PharmGKBiPA25158.

Polymorphism and mutation databases

BioMutaiATP6V1E1.
DMDMi549207.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001172952 – 226V-type proton ATPase subunit E 1Add BLAST225

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei56PhosphotyrosineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP36543.
PaxDbiP36543.
PeptideAtlasiP36543.
PRIDEiP36543.

2D gel databases

UCD-2DPAGEP36543.

PTM databases

iPTMnetiP36543.
PhosphoSitePlusiP36543.
SwissPalmiP36543.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000131100.
CleanExiHS_ATP6V1E1.
ExpressionAtlasiP36543. baseline and differential.
GenevisibleiP36543. HS.

Organism-specific databases

HPAiCAB009528.
CAB018699.
HPA029196.

Interactioni

Subunit structurei

V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (components A to H) attached to an integral membrane V0 proton pore complex (components: a, c, c', c'' and d). Interacts with RABL2/RABL2A; binds preferentially to GTP-bound RABL2 (By similarity). Interacts with ALDOC. Interacts with RAB11B.By similarity2 Publications

GO - Molecular functioni

  • ATPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi107012. 60 interactors.
IntActiP36543. 12 interactors.
MINTiMINT-5002575.
STRINGi9606.ENSP00000253413.

Structurei

3D structure databases

ProteinModelPortaliP36543.
SMRiP36543.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the V-ATPase E subunit family.Curated

Phylogenomic databases

eggNOGiKOG1664. Eukaryota.
COG1390. LUCA.
GeneTreeiENSGT00390000002730.
HOGENOMiHOG000202506.
HOVERGENiHBG002309.
InParanoidiP36543.
KOiK02150.
OMAiEYQTVLT.
OrthoDBiEOG091G0OGO.
PhylomeDBiP36543.
TreeFamiTF313479.

Family and domain databases

HAMAPiMF_00311. ATP_synth_E_arch. 1 hit.
InterProiIPR002842. ATPase_V1/A1-cplx_esu.
[Graphical view]
PfamiPF01991. vATP-synt_E. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P36543-1) [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
MALSDADVQK QIKHMMAFIE QEANEKAEEI DAKAEEEFNI EKGRLVQTQR
60 70 80 90 100
LKIMEYYEKK EKQIEQQKKI QMSNLMNQAR LKVLRARDDL ITDLLNEAKQ
110 120 130 140 150
RLSKVVKDTT RYQVLLDGLV LQGLYQLLEP RMIVRCRKQD FPLVKAAVQK
160 170 180 190 200
AIPMYKIATK NDVDVQIDQE SYLPEDIAGG VEIYNGDRKI KVSNTLESRL
210 220
DLIAQQMMPE VRGALFGANA NRKFLD
Length:226
Mass (Da):26,145
Last modified:June 1, 1994 - v1
Checksum:iDFD0D44E6D9AEA17
GO
Isoform 2 (identifier: P36543-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     12-33: Missing.

Note: No experimental confirmation available.
Show »
Length:204
Mass (Da):23,587
Checksum:i25B2BADC0BE9B22B
GO
Isoform 3 (identifier: P36543-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     93-122: Missing.

Show »
Length:196
Mass (Da):22,706
Checksum:i32EEBB32390D88A2
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti32A → R in CAA50592 (PubMed:8250920).Curated1
Sequence conflicti86A → G no nucleotide entry (PubMed:1533641).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03656550R → G in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04292512 – 33Missing in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_04458993 – 122Missing in isoform 3. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X76228 mRNA. Translation: CAA53814.1.
X71491 mRNA. Translation: CAA50592.1.
CR456385 mRNA. Translation: CAG30271.1.
AK294623 mRNA. Translation: BAG57804.1.
AK315941 mRNA. Translation: BAH14312.1.
AC004019 Genomic DNA. No translation available.
AC006285 Genomic DNA. No translation available.
AC007666 Genomic DNA. No translation available.
BC004443 mRNA. Translation: AAH04443.1.
CCDSiCCDS13745.1. [P36543-1]
CCDS42977.1. [P36543-2]
CCDS42978.1. [P36543-3]
PIRiS60562.
RefSeqiNP_001034455.1. NM_001039366.1. [P36543-2]
NP_001034456.1. NM_001039367.1. [P36543-3]
NP_001687.1. NM_001696.3. [P36543-1]
UniGeneiHs.517338.

Genome annotation databases

EnsembliENST00000253413; ENSP00000253413; ENSG00000131100. [P36543-1]
ENST00000399796; ENSP00000382694; ENSG00000131100. [P36543-3]
ENST00000399798; ENSP00000382696; ENSG00000131100. [P36543-2]
GeneIDi529.
KEGGihsa:529.
UCSCiuc002zms.3. human. [P36543-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X76228 mRNA. Translation: CAA53814.1.
X71491 mRNA. Translation: CAA50592.1.
CR456385 mRNA. Translation: CAG30271.1.
AK294623 mRNA. Translation: BAG57804.1.
AK315941 mRNA. Translation: BAH14312.1.
AC004019 Genomic DNA. No translation available.
AC006285 Genomic DNA. No translation available.
AC007666 Genomic DNA. No translation available.
BC004443 mRNA. Translation: AAH04443.1.
CCDSiCCDS13745.1. [P36543-1]
CCDS42977.1. [P36543-2]
CCDS42978.1. [P36543-3]
PIRiS60562.
RefSeqiNP_001034455.1. NM_001039366.1. [P36543-2]
NP_001034456.1. NM_001039367.1. [P36543-3]
NP_001687.1. NM_001696.3. [P36543-1]
UniGeneiHs.517338.

3D structure databases

ProteinModelPortaliP36543.
SMRiP36543.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107012. 60 interactors.
IntActiP36543. 12 interactors.
MINTiMINT-5002575.
STRINGi9606.ENSP00000253413.

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.

PTM databases

iPTMnetiP36543.
PhosphoSitePlusiP36543.
SwissPalmiP36543.

Polymorphism and mutation databases

BioMutaiATP6V1E1.
DMDMi549207.

2D gel databases

UCD-2DPAGEP36543.

Proteomic databases

EPDiP36543.
PaxDbiP36543.
PeptideAtlasiP36543.
PRIDEiP36543.

Protocols and materials databases

DNASUi529.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253413; ENSP00000253413; ENSG00000131100. [P36543-1]
ENST00000399796; ENSP00000382694; ENSG00000131100. [P36543-3]
ENST00000399798; ENSP00000382696; ENSG00000131100. [P36543-2]
GeneIDi529.
KEGGihsa:529.
UCSCiuc002zms.3. human. [P36543-1]

Organism-specific databases

CTDi529.
DisGeNETi529.
GeneCardsiATP6V1E1.
HGNCiHGNC:857. ATP6V1E1.
HPAiCAB009528.
CAB018699.
HPA029196.
MIMi108746. gene.
neXtProtiNX_P36543.
OpenTargetsiENSG00000131100.
PharmGKBiPA25158.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1664. Eukaryota.
COG1390. LUCA.
GeneTreeiENSGT00390000002730.
HOGENOMiHOG000202506.
HOVERGENiHBG002309.
InParanoidiP36543.
KOiK02150.
OMAiEYQTVLT.
OrthoDBiEOG091G0OGO.
PhylomeDBiP36543.
TreeFamiTF313479.

Enzyme and pathway databases

BioCyciMetaCyc:HS05489-MONOMER.
ZFISH:HS05489-MONOMER.
ReactomeiR-HSA-1222556. ROS, RNS production in response to bacteria.
R-HSA-77387. Insulin receptor recycling.
R-HSA-917977. Transferrin endocytosis and recycling.
R-HSA-983712. Ion channel transport.

Miscellaneous databases

ChiTaRSiATP6V1E1. human.
GeneWikiiATP6V1E1.
GenomeRNAii529.
PROiP36543.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131100.
CleanExiHS_ATP6V1E1.
ExpressionAtlasiP36543. baseline and differential.
GenevisibleiP36543. HS.

Family and domain databases

HAMAPiMF_00311. ATP_synth_E_arch. 1 hit.
InterProiIPR002842. ATPase_V1/A1-cplx_esu.
[Graphical view]
PfamiPF01991. vATP-synt_E. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVATE1_HUMAN
AccessioniPrimary (citable) accession number: P36543
Secondary accession number(s): A8MUE4, A8MUN4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: November 2, 2016
This is version 171 of the entry and version 1 of the sequence. [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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.