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ATP6V1E2 ATPase H+ transporting V1 subunit E2 [ Homo sapiens (human) ]

Gene ID: 90423, updated on 7-Jun-2020

Summary

Official Symbol
ATP6V1E2provided by HGNC
Official Full Name
ATPase H+ transporting V1 subunit E2provided by HGNC
Primary source
HGNC:HGNC:18125
See related
Ensembl:ENSG00000250565 MIM:617385
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VMA4; ATP6E1; ATP6EL2; ATP6V1EL2
Expression
Broad expression in testis (RPKM 6.7), thyroid (RPKM 1.5) and 20 other tissues See more
Orthologs

Genomic context

See ATP6V1E2 in Genome Data Viewer
Location:
2p21; 2p16-p12
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (46511847..46542577, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (46738986..46769551, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 817, pseudogene Neighboring gene transmembrane protein 247 Neighboring gene ras homolog family member Q Neighboring gene RHOQ antisense RNA 1 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class F

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC9341, FLJ41757

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
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 2
Names
ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2
V-ATPase subunit E 2
testis secretory sperm-binding protein Li 235P
vacuolar proton pump subunit E 2
vacuolar-type proton-translocating ATPase subunit E1

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.

mRNA and Protein(s)

  1. NM_001318063.2NP_001304992.1  V-type proton ATPase subunit E 2

    Status: VALIDATED

    Source sequence(s)
    AC018682, AF086285, AL541274, BC008981, HY189673
    Consensus CDS
    CCDS1826.1
    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Related
    ENSP00000428141.1, ENST00000522587.6
    Conserved Domains (2) summary
    COG1390
    Location:15218
    NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
    pfam01991
    Location:18216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  2. NM_001371281.1NP_001358210.1  V-type proton ATPase subunit E 2

    Status: VALIDATED

    Source sequence(s)
    AC018682
  3. NM_001371282.1NP_001358211.1  V-type proton ATPase subunit E 2

    Status: VALIDATED

    Source sequence(s)
    AC018682
  4. NM_001371283.1NP_001358212.1  V-type proton ATPase subunit E 2

    Status: VALIDATED

    Source sequence(s)
    AC018682

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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    46511847..46542577 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005225.1XP_016860714.1  V-type proton ATPase subunit E 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Related
    ENSP00000304891.4, ENST00000306448.4
    Conserved Domains (2) summary
    COG1390
    Location:15218
    NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
    pfam01991
    Location:18216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  2. XM_011533153.3XP_011531455.1  V-type proton ATPase subunit E 2 isoform X1

    See identical proteins and their annotated locations for XP_011531455.1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (2) summary
    COG1390
    Location:15218
    NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
    pfam01991
    Location:18216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  3. XM_011533149.3XP_011531451.1  V-type proton ATPase subunit E 2 isoform X1

    See identical proteins and their annotated locations for XP_011531451.1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (2) summary
    COG1390
    Location:15218
    NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
    pfam01991
    Location:18216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  4. XM_011533151.3XP_011531453.1  V-type proton ATPase subunit E 2 isoform X1

    See identical proteins and their annotated locations for XP_011531453.1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (2) summary
    COG1390
    Location:15218
    NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
    pfam01991
    Location:18216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  5. XM_011533148.3XP_011531450.1  V-type proton ATPase subunit E 2 isoform X1

    See identical proteins and their annotated locations for XP_011531450.1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (2) summary
    COG1390
    Location:15218
    NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
    pfam01991
    Location:18216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  6. XM_011533150.3XP_011531452.1  V-type proton ATPase subunit E 2 isoform X1

    See identical proteins and their annotated locations for XP_011531452.1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (2) summary
    COG1390
    Location:15218
    NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
    pfam01991
    Location:18216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit
  7. XM_011533152.3XP_011531454.1  V-type proton ATPase subunit E 2 isoform X1

    See identical proteins and their annotated locations for XP_011531454.1

    UniProtKB/Swiss-Prot
    Q96A05
    UniProtKB/TrEMBL
    A0A140VKA8
    Conserved Domains (2) summary
    COG1390
    Location:15218
    NtpE; Archaeal/vacuolar-type H+-ATPase subunit E/Vma4 [Energy production and conversion]
    pfam01991
    Location:18216
    vATP-synt_E; ATP synthase (E/31 kDa) subunit

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_080653.3: Suppressed sequence

    Description
    NM_080653.3: This RefSeq was removed because currently there is insufficient support for the transcript.
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