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ATP6V1E1 - ATPase H+ transporting V1 subunit E1 Gene

Also Known as P31; Vma4; ATP6E; ARCL2C; ATP6E2; ATP6V1E

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 529

About ATP6V1E1

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:17,592,136-17,628,822 (from NCBI)

This gene has 9 transcripts (splice variants), 282 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 104.5), kidney (RPKM 73.8) and 25 other tissues.

Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]

ATP6V1E1 Products (3)

mRNA	Protein	Name
NM_001039366.1	NP_001034455.1	V-type proton ATPase subunit E 1 isoform b
NM_001039367.1	NP_001034456.1	V-type proton ATPase subunit E 1 isoform c
NM_001696.4	NP_001687.1	V-type proton ATPase subunit E 1 isoform a

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	20717956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11399750	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of vacuolar proton-transporting V-type ATPase, V1 domain	IDA IDA: Inferred from direct assay	33065002	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP6V1E1 Protein Structure

vATP-synt_E

0
100
200
226 a.a.

Protein Preferred Names	Protein Names
V-type proton ATPase subunit E 1	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1

ATP6V1E1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATP6V1E1	P36543	ATP6V1G1	Homo sapiens	O75348	Anti Tag CoIP	35271311
Intra	ATP6V1E1	P36543	ATP6V1G1	Homo sapiens	O75348	Y2H Pooling	16169070

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cutis Laxa, Autosomal Recessive, Type Iic	ARCL2C Autosomal Recessive Cutis Laxa Type 2c Autosomal Recessive Cutis Laxa Type Iic Cutis Laxa, Autosomal Recessive, 2c Cutis Laxa Autosomal Recessive, Type Iic
Autosomal Recessive Cutis Laxa Type Ii Classic Type	Arcl2, Classic Type Arcl2, Debre Type Autosomal Recessive Cutis Laxa Type 2, Classic Type Autosomal Recessive Cutis Laxa Type 2, Debre Type
Cutis Laxa	Generalized Elastolysis Loose Skin Dermatolysis Dermatomegaly Cutis Laxa Syndrome
Cutis Laxa, Autosomal Recessive, Type Iid	ARCL2D Autosomal Recessive Cutis Laxa Type Iid Autosomal Recessive Cutis Laxa Type 2d Cutis Laxa, Autosomal Recessive, 2d
Cutis Laxa, Autosomal Recessive, Type Iia	ARCL2A Cutis Laxa With Joint Laxity And Retarded Development Cutis Laxa With Growth And Developmental Delay Cutis Laxa, Debre Type Cutis Laxa With Bone Dystrophy Arcl2 Cutis Laxa With Congenital Disorder Of Glycosylation Autosomal Recessive Cutis Laxa Type Iia Cutis Laxa, Autosomal Recessive Type 2a Cutis Laxa, Autosomal Recessive, 2a Cl Type Iia Cutis Laxa Autosomal Recessive Type Iia
Immunodeficiency 47	Congenital Disorder Of Glycosylation Type Ii CDG2E Congenital Disorder Of Glycosylation Type Iie IMD47 Cdg2s Cdg Iis Cdgiis Immunodeficiency And Hepatopathy With Or Without Neurologic Features Congenital Disorder Of Glycosylation, Type Ii CDG1I Congenital Disorder Of Glycosylation, Type Iie Cdg Iie Congenital Disorder Of Glycosylation Type 2e Congenital Disorder Of Glycosylation, Type Iis Cdg Ii Cdgii Cdgiie Carbohydrate Deficient Glycoprotein Syndrome Type Iie Cdg Syndrome Type Iie Congenital Disorder Of Glycosylation Ii Congenital Disorder Of Glycosylation 1i Cdg-Iie Alg2-Cdg Cdg-Ii Glycosylation, Congenital Disorder Of, Type Ii Cdgiide Congenital Disorder Of Glycosylation Type Iis Cog7-Cdg Cdg Syndrome Type Ii Carbohydrate Deficient Glycoprotein Syndrome Type Ii Congenital Disorder Of Glycosylation Type 1i Mannosyltransferase 2 Deficiency Congenital Disorder Of Glycosylation 2e Congenital Disorder Of Glycosylation 2s Congenital Disorders Of Glycosylation Type Ii Glycosylation, Congenital Disorder Of, Type Iie Immunodeficiency, Type 47 Congenital Disorder Of Glycosylation Type 2a
Cutis Laxa, Autosomal Dominant 3	ADCL3 Autosomal Dominant Cutis Laxa 3 Cutis Laxa, Autosomal Dominant, 3
Cutis Laxa, Autosomal Recessive, Type Iib	ARCL2B Cutis Laxa With Progeroid Features Autosomal Recessive Cutis Laxa Type 2b Autosomal Recessive Cutis Laxa Type Iib Arcl2, Progeroid Type Cutis Laxa, Autosomal Recessive Type 2b Autosomal Recessive Cutis Laxa Type 2, Progeroid Type Cutis Laxa, Autosomal Recessive, 2b Cl Type Iib Cutis Laxa Autosomal Recessive Type Iib Cutis Laxa, Autosomal Recessive, Type 2b
Geroderma Osteodysplasticum	Gerodermia Osteodysplastica Geroderma Osteodysplastica GO Walt Disney Dwarfism Type Of Gerodermia Osteodysplastica

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01229	ATP6V1E1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ATP6V1E1	MGD	MGI:894326
Felis catus	ATP6V1E1	VGNC	VGNC:83506
Rattus norvegicus	ATP6V1E1	RGD	RGD:735157
Bos taurus	ATP6V1E1	VGNC	VGNC:26322
Macaca mulatta	ATP6V1E1	VGNC	VGNC:103791
Others	ATP6V1E1	NCBI