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Protein

V-type proton ATPase subunit E 1

Gene

ATP6V1E1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • proton transmembrane transport Source: ProtInc
  • regulation of macroautophagy Source: ParkinsonsUK-UCL
  • transferrin transport Source: Reactome

Keywordsi

Molecular functionHydrolase
Biological processHydrogen ion transport, Ion transport, Transport

Enzyme and pathway databases

BioCyciMetaCyc:HS05489-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 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

EuPathDBiHostDB:ENSG00000131100.12
HGNCiHGNC:857 ATP6V1E1
MIMi108746 gene
neXtProtiNX_P36543

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

Pathology & Biotechi

Involvement in diseasei

Cutis laxa, autosomal recessive, 2C (ARCL2C)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 ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement.
See also OMIM:617402
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078604128L → P in ARCL2C. 1 Publication1
Natural variantiVAR_078605212R → W in ARCL2C. 1 PublicationCorresponds to variant dbSNP:rs1028534806Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi529
MalaCardsiATP6V1E1
MIMi617402 phenotype
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

CarbonylDBiP36543
iPTMnetiP36543
PhosphoSitePlusiP36543
SwissPalmiP36543

Expressioni

Tissue specificityi

Ubiquitous (PubMed:12036578). High expression in the skin (PubMed:28065471).2 Publications

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, 14 interactors
MINTiP36543
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
OMAiSEMNKMV
OrthoDBiEOG091G0OGO
PhylomeDBiP36543
TreeFamiTF313479

Family and domain databases

Gene3Di3.30.2320.30, 1 hit
HAMAPiMF_00311 ATP_synth_E_arch, 1 hit
InterProiView protein in InterPro
IPR038495 ATPase_E_C
IPR002842 ATPase_V1_Esu
PfamiView protein in Pfam
PF01991 vATP-synt_E, 1 hit

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
Natural variantiVAR_078604128L → P in ARCL2C. 1 Publication1
Natural variantiVAR_078605212R → W in ARCL2C. 1 PublicationCorresponds to variant dbSNP:rs1028534806Ensembl.1

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

Similar proteinsi

Entry informationi

Entry nameiVATE1_HUMAN
AccessioniPrimary (citable) accession number: P36543
Secondary accession number(s): A8MUE4, A8MUN4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: May 23, 2018
This is version 180 of the entry and version 1 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, Direct protein sequencing, Reference proteome

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