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    Atp6v1e1 ATPase, H+ transporting, lysosomal V1 subunit E1 [ Mus musculus (house mouse) ]

    Gene ID: 11973, updated on 9-Dec-2024

    Summary

    Official Symbol
    Atp6v1e1provided by MGI
    Official Full Name
    ATPase, H+ transporting, lysosomal V1 subunit E1provided by MGI
    Primary source
    MGI:MGI:894326
    See related
    Ensembl:ENSMUSG00000019210 AllianceGenome:MGI:894326
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    p31; Vma4; Atp6e; Atp6e2; Atp6v1e; D6Ertd385e; 2410029D23Rik
    Summary
    Enables proton-transporting ATPase activity, rotational mechanism. Involved in synaptic vesicle lumen acidification. Acts upstream of or within proton transmembrane transport. Located in several cellular components, including apical plasma membrane; endosome; and microvillus. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIC. Orthologous to human ATP6V1E1 (ATPase H+ transporting V1 subunit E1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in cortex adult (RPKM 139.1), frontal lobe adult (RPKM 137.5) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Atp6v1e1 in Genome Data Viewer
    Location:
    6 F1; 6 57.01 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (120772205..120799659, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (120795244..120822698, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene CECR2, histone acetyl-lysine reader Neighboring gene predicted gene, 53339 Neighboring gene solute carrier family 25 (mitochondrial carrier), member 18 Neighboring gene STARR-seq mESC enhancer starr_17192 Neighboring gene STARR-positive B cell enhancer ABC_E1709 Neighboring gene ribosomal protein S27 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E6479 Neighboring gene predicted gene, 38889 Neighboring gene BCL2 like 13

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (4) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proton-transporting ATPase activity, rotational mechanism IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables proton-transporting ATPase activity, rotational mechanism IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extrinsic component of synaptic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion HDA PubMed 
    located_in synaptic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of vacuolar proton-transporting V-type ATPase, V1 domain ISO
    Inferred from Sequence Orthology
    more info
     
    part_of vacuolar proton-transporting V-type ATPase, V1 domain ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    V-type proton ATPase subunit E 1
    Names
    ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E
    H(+)-ATPase E-like protein
    V-ATPase 31 kDa subunit
    V-ATPase subunit E 1
    VATPase, H+ transporting, lysosomal V1 subunit E1
    vacuolar proton pump subunit E 1
    NP_031536.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007510.3NP_031536.2  V-type proton ATPase subunit E 1

      See identical proteins and their annotated locations for NP_031536.2

      Status: VALIDATED

      Source sequence(s)
      AI844873, AK139791
      Consensus CDS
      CCDS20484.1
      UniProtKB/Swiss-Prot
      P50518, Q3UK59, Q8K5D6, Q99LD0
      Related
      ENSMUSP00000019354.9, ENSMUST00000019354.11
      Conserved Domains (1) summary
      pfam01991
      Location:18216
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      120772205..120799659 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)