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ATP6V1E1 ATPase H+ transporting V1 subunit E1 [ Homo sapiens (human) ]

Gene ID: 529, updated on 29-Mar-2020

Summary

Official Symbol
ATP6V1E1provided by HGNC
Official Full Name
ATPase H+ transporting V1 subunit E1provided by HGNC
Primary source
HGNC:HGNC:857
See related
Ensembl:ENSG00000131100 MIM:108746
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
P31; Vma4; ATP6E; ARCL2C; ATP6E2; ATP6V1E
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]
Expression
Ubiquitous expression in brain (RPKM 104.5), kidney (RPKM 73.8) and 25 other tissues See more
Orthologs

Genomic context

See ATP6V1E1 in Genome Data Viewer
Location:
22q11.21
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (17592136..17628822, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18074902..18111588, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372850 Neighboring gene solute carrier family 25 member 18 Neighboring gene uncharacterized LOC101929372 Neighboring gene BCL2 like 13 Neighboring gene BH3 interacting domain death agonist Neighboring gene microRNA 3198-1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
MedGen: C4479387 OMIM: 617402 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proton-exporting ATPase activity, phosphorylative mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton-transporting ATPase activity, rotational mechanism IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
phagosome acidification TAS
Traceable Author Statement
more info
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endosome ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular exosome HDA PubMed 
lysosomal membrane HDA PubMed 
microvillus IEA
Inferred from Electronic Annotation
more info
 
proton-transporting two-sector ATPase complex TAS
Traceable Author Statement
more info
PubMed 
proton-transporting two-sector ATPase complex, catalytic domain IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
V-type proton ATPase subunit E 1
Names
ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
H(+)-transporting two-sector ATPase, 31kDa subunit
H+-transporting ATP synthase chain E, vacuolar
V-ATPase 31 kDa subunit
V-ATPase subunit E 1
V-ATPase, subunit E
vacuolar proton pump subunit E 1
NP_001034455.1
NP_001034456.1
NP_001687.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009214.2 RefSeqGene

    Range
    5074..41687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039366.1NP_001034455.1  V-type proton ATPase subunit E 1 isoform b

    See identical proteins and their annotated locations for NP_001034455.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AC006285, AC007666, BQ888820, CK005516
    Consensus CDS
    CCDS42977.1
    UniProtKB/Swiss-Prot
    P36543
    Related
    ENSP00000382696.2, ENST00000399798.6
    Conserved Domains (1) summary
    pfam01991
    Location:7194
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  2. NM_001039367.1NP_001034456.1  V-type proton ATPase subunit E 1 isoform c

    See identical proteins and their annotated locations for NP_001034456.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform c), compared to isoform a.
    Source sequence(s)
    AC006285, AC007666, AW406069, BE735148, BI597419, CK005516
    Consensus CDS
    CCDS42978.1
    UniProtKB/Swiss-Prot
    P36543
    Related
    ENSP00000382694.2, ENST00000399796.6
    Conserved Domains (1) summary
    pfam01991
    Location:18186
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  3. NM_001696.4NP_001687.1  V-type proton ATPase subunit E 1 isoform a

    See identical proteins and their annotated locations for NP_001687.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC006285, AC007666, KF457350
    Consensus CDS
    CCDS13745.1
    UniProtKB/Swiss-Prot
    P36543
    UniProtKB/TrEMBL
    Q53Y06
    Related
    ENSP00000253413.5, ENST00000253413.10
    Conserved Domains (1) summary
    pfam01991
    Location:18216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    17592136..17628822 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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