U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ATP6AP1 ATPase H+ transporting accessory protein 1 [ Homo sapiens (human) ]

Gene ID: 537, updated on 8-Jan-2023

Summary

Official Symbol
ATP6AP1provided by HGNC
Official Full Name
ATPase H+ transporting accessory protein 1provided by HGNC
Primary source
HGNC:HGNC:868
See related
Ensembl:ENSG00000071553 MIM:300197; AllianceGenome:HGNC:868
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
16A; CF2; Ac45; XAP3; XAP-3; ATP6S1; VATPS1; ATP6IP1
Summary
This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]
Expression
Ubiquitous expression in brain (RPKM 59.1), thyroid (RPKM 48.0) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ATP6AP1 in Genome Data Viewer
Location:
Xq28
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154428677..154436516)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152665185..152673024)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153657023..153664862)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene deoxyribonuclease 1 like 1 Neighboring gene tafazzin, phospholipid-lysophospholipid transacylase Neighboring gene ATP6AP1 divergent transcript Neighboring gene GDP dissociation inhibitor 1 Neighboring gene family with sequence similarity 50 member A Neighboring gene microRNA 6858

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?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of ATP6AP1 by shRNA significantly inhibits HIV-1 replication in CD4+ T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies ATP6AP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129781

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular function activator activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in Golgi lumen acidification NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cellular response to increased oxygen levels IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endosomal lumen acidification NAS
Non-traceable Author Statement
more info
PubMed 
involved_in endosome to plasma membrane protein transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular iron ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intracellular pH reduction NAS
Non-traceable Author Statement
more info
PubMed 
involved_in lysosomal lumen acidification NAS
Non-traceable Author Statement
more info
PubMed 
involved_in osteoclast development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in proton transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of cellular pH IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in synaptic vesicle lumen acidification IEA
Inferred from Electronic Annotation
more info
 
involved_in vacuolar acidification NAS
Non-traceable Author Statement
more info
PubMed 

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 accessory protein 1
ATPase, H+ transporting, lysosomal interacting protein 1
H-ATPase subunit
V-ATPase Ac45 subunit
V-ATPase S1 accessory protein
V-ATPase subunit S1
X-associated protein 3
epididymis secretory sperm binding protein
protein XAP-3
vacuolar ATPase subunit S1
vacuolar proton pump subunit S1
NP_001174.2

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.

Genomic

  1. NG_052807.1 RefSeqGene

    Range
    5046..12885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001183.6NP_001174.2  V-type proton ATPase subunit S1 precursor

    See identical proteins and their annotated locations for NP_001174.2

    Status: REVIEWED

    Source sequence(s)
    AK075284, AK289452
    Consensus CDS
    CCDS35451.1
    UniProtKB/Swiss-Prot
    Q15904, Q9H0C7
    UniProtKB/TrEMBL
    A0A384MQW4
    Related
    ENSP00000358777.2, ENST00000369762.7
    Conserved Domains (1) summary
    pfam05827
    Location:321468
    ATP-synt_S1; Vacuolar ATP synthase subunit S1 (ATP6S1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    154428677..154436516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152665185..152673024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)