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Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1 [ Mus musculus (house mouse) ]

Gene ID: 54411, updated on 5-Jan-2023

Summary

Official Symbol
Atp6ap1provided by MGI
Official Full Name
ATPase, H+ transporting, lysosomal accessory protein 1provided by MGI
Primary source
MGI:MGI:109629
See related
Ensembl:ENSMUSG00000019087 AllianceGenome:MGI:109629
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
16A; CF2; AC45; C7-1; XAP-3; Atp6s1; VATPS1; Atp6ip1; mFLJ00383
Summary
Enables small GTPase binding activity. Involved in several processes, including positive regulation of ERK1 and ERK2 cascade; positive regulation of bone resorption; and positive regulation of cell differentiation. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be integral component of membrane. Predicted to be part of plasma membrane proton-transporting V-type ATPase complex. Is expressed in integumental system; nervous system; sensory organ; and tail. Human ortholog(s) of this gene implicated in immunodeficiency 47. Orthologous to human ATP6AP1 (ATPase H+ transporting accessory protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 71.2), genital fat pad adult (RPKM 67.3) and 28 other tissues See more
Orthologs
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Genomic context

See Atp6ap1 in Genome Data Viewer
Location:
X A7.3; X 37.96 cM
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) X NC_000086.8 (73340703..73348327)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (74297097..74304721)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 1-like 1 Neighboring gene predicted gene 14846 Neighboring gene tafazzin, phospholipid-lysophospholipid transacylase Neighboring gene guanosine diphosphate (GDP) dissociation inhibitor 1 Neighboring gene family with sequence similarity 50, member A Neighboring gene microRNA 7092

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)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00383

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATPase activator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
is_active_in endosome membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
part_of proton-transporting V-type ATPase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 
is_active_in synaptic vesicle membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
V-type proton ATPase subunit S1
Names
ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1
ATPase, H+ transporting, lysosomal interacting protein 1
V-ATPase Ac45 subunit
V-ATPase S1 accessory protein
V-ATPase subunit Ac45
V-ATPase subunit S1
protein C7-1
vacuolar H+ ATPase accessory subunit 1
vacuolar proton pump subunit S1
NP_001345304.1
NP_001345309.1
NP_061264.1
XP_036017913.1

NCBI Reference Sequences (RefSeq)

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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_001358375.1NP_001345304.1  V-type proton ATPase subunit S1 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AL807376
    Conserved Domains (1) summary
    pfam05827
    Location:290436
    ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)
  2. NM_001358380.1NP_001345309.1  V-type proton ATPase subunit S1 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AK166793, AL807376
    Consensus CDS
    CCDS90731.1
    UniProtKB/TrEMBL
    Q3TKX1
    Related
    ENSMUSP00000109808.4, ENSMUST00000114171.10
    Conserved Domains (1) summary
    pfam05827
    Location:315394
    ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)
  3. NM_018794.4NP_061264.1  V-type proton ATPase subunit S1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_061264.1

    Status: VALIDATED

    Source sequence(s)
    AK136210, AK158956, AL807376
    Consensus CDS
    CCDS30226.1
    UniProtKB/Swiss-Prot
    Q9R1Q9
    UniProtKB/TrEMBL
    Q3TWN7, Q3UWN7
    Related
    ENSMUSP00000019231.6, ENSMUST00000019231.12
    Conserved Domains (1) summary
    pfam05827
    Location:414442
    ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    73340703..73348327
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036162020.1XP_036017913.1  V-type proton ATPase subunit S1 isoform X1

    Conserved Domains (1) summary
    pfam05827
    Location:132278
    ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)