Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ATP6AP1 (ATPase H+ transporting accessory protein 1)

Identity

Alias_namesATP6S1
ATP6IP1
ATPase, H transporting, lysosomal (vacuolar proton pump), subunit 1
ATPase, H transporting, lysosomal accessory protein 1
Alias_symbol (synonym)ORF
XAP-3
VATPS1
16A
Ac45
XAP3
CF2
Other alias
HGNC (Hugo) ATP6AP1
LocusID (NCBI) 537
Atlas_Id 42905
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 153656978 and ends at 153664863 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ATP10B (5q34) / ATP6AP1 (Xq28)ATP6AP1 (Xq28) / ARFGEF2 (20q13.13)ATP6AP1 Xq28 / ARFGEF2 20q13.13

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ATP6AP1   868
Cards
Entrez_Gene (NCBI)ATP6AP1  537  ATPase H+ transporting accessory protein 1
Aliases16A; ATP6IP1; ATP6S1; Ac45; 
CF2; VATPS1; XAP-3; XAP3
GeneCards (Weizmann)ATP6AP1
Ensembl hg19 (Hinxton)ENSG00000071553 [Gene_View]  chrX:153656978-153664863 [Contig_View]  ATP6AP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000071553 [Gene_View]  chrX:153656978-153664863 [Contig_View]  ATP6AP1 [Vega]
ICGC DataPortalENSG00000071553
TCGA cBioPortalATP6AP1
AceView (NCBI)ATP6AP1
Genatlas (Paris)ATP6AP1
WikiGenes537
SOURCE (Princeton)ATP6AP1
Genetics Home Reference (NIH)ATP6AP1
Genomic and cartography
GoldenPath hg19 (UCSC)ATP6AP1  -     chrX:153656978-153664863 +  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ATP6AP1  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblATP6AP1 - Xq28 [CytoView hg19]  ATP6AP1 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIATP6AP1 [Mapview hg19]  ATP6AP1 [Mapview hg38]
OMIM300197   
Gene and transcription
Genbank (Entrez)AK026519 AK075284 AK090462 AK091083 AK130616
RefSeq transcript (Entrez)NM_001183
RefSeq genomic (Entrez)NC_000023 NC_018934 NT_011681 NW_004929448
Consensus coding sequences : CCDS (NCBI)ATP6AP1
Cluster EST : UnigeneHs.633817 [ NCBI ]
CGAP (NCI)Hs.633817
Alternative Splicing GalleryENSG00000071553
Gene ExpressionATP6AP1 [ NCBI-GEO ]   ATP6AP1 [ EBI - ARRAY_EXPRESS ]   ATP6AP1 [ SEEK ]   ATP6AP1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6AP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)537
GTEX Portal (Tissue expression)ATP6AP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15904   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15904  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15904
Splice isoforms : SwissVarQ15904
PhosPhoSitePlusQ15904
Domains : Interpro (EBI)ATPase_V1-cplx_s1su   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)ATP6AP1
DMDM Disease mutations537
Blocks (Seattle)ATP6AP1
SuperfamilyQ15904
Human Protein AtlasENSG00000071553
Peptide AtlasQ15904
HPRD02184
IPIIPI00784119   IPI01010933   IPI00852864   IPI00879556   IPI00552748   IPI00879893   IPI00879995   
Protein Interaction databases
DIP (DOE-UCLA)Q15904
IntAct (EBI)Q15904
FunCoupENSG00000071553
BioGRIDATP6AP1
STRING (EMBL)ATP6AP1
ZODIACATP6AP1
Ontologies - Pathways
QuickGOQ15904
Ontology : AmiGOtransporter activity  ATP binding  vacuolar membrane  insulin receptor signaling pathway  endosome membrane  ATP hydrolysis coupled proton transport  proton transport  integral component of membrane  proton-transporting two-sector ATPase complex  Rab GTPase binding  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  positive regulation of osteoblast differentiation  positive regulation of bone resorption  pH reduction  positive regulation of exocytosis  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATPase activity, rotational mechanism  establishment of organelle localization  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  positive regulation of osteoclast development  
Ontology : EGO-EBItransporter activity  ATP binding  vacuolar membrane  insulin receptor signaling pathway  endosome membrane  ATP hydrolysis coupled proton transport  proton transport  integral component of membrane  proton-transporting two-sector ATPase complex  Rab GTPase binding  proton-transporting V-type ATPase, V1 domain  transferrin transport  ion transmembrane transport  positive regulation of osteoblast differentiation  positive regulation of bone resorption  pH reduction  positive regulation of exocytosis  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATPase activity, rotational mechanism  establishment of organelle localization  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  positive regulation of osteoclast development  
Pathways : KEGGOxidative phosphorylation    Lysosome    Phagosome    Vibrio cholerae infection    Epithelial cell signaling in Helicobacter pylori infection    Tuberculosis    Hepatitis B    Rheumatoid arthritis   
NDEx NetworkATP6AP1
Atlas of Cancer Signalling NetworkATP6AP1
Wikipedia pathwaysATP6AP1
Orthology - Evolution
OrthoDB537
GeneTree (enSembl)ENSG00000071553
Phylogenetic Trees/Animal Genes : TreeFamATP6AP1
HOVERGENQ15904
HOGENOMQ15904
Homologs : HomoloGeneATP6AP1
Homology/Alignments : Family Browser (UCSC)ATP6AP1
Gene fusions - Rearrangements
Fusion : MitelmanATP6AP1/ARFGEF2 [Xq28/20q13.13]  
Fusion: TCGAATP6AP1 Xq28 ARFGEF2 20q13.13 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6AP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6AP1
dbVarATP6AP1
ClinVarATP6AP1
1000_GenomesATP6AP1 
Exome Variant ServerATP6AP1
ExAC (Exome Aggregation Consortium)ATP6AP1 (select the gene name)
Genetic variants : HAPMAP537
Genomic Variants (DGV)ATP6AP1 [DGVbeta]
DECIPHER (Syndromes)X:153656978-153664863  ENSG00000071553
CONAN: Copy Number AnalysisATP6AP1 
Mutations
ICGC Data PortalATP6AP1 
TCGA Data PortalATP6AP1 
Broad Tumor PortalATP6AP1
OASIS PortalATP6AP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6AP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6AP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATP6AP1
DgiDB (Drug Gene Interaction Database)ATP6AP1
DoCM (Curated mutations)ATP6AP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6AP1 (select a term)
intoGenATP6AP1
Cancer3DATP6AP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300197   
Orphanet
MedgenATP6AP1
Genetic Testing Registry ATP6AP1
NextProtQ15904 [Medical]
TSGene537
GENETestsATP6AP1
Huge Navigator ATP6AP1 [HugePedia]
snp3D : Map Gene to Disease537
BioCentury BCIQATP6AP1
ClinGenATP6AP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD537
Chemical/Pharm GKB GenePA25145
Clinical trialATP6AP1
Miscellaneous
canSAR (ICR)ATP6AP1 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6AP1
EVEXATP6AP1
GoPubMedATP6AP1
iHOPATP6AP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 12:56:59 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.