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ATP6AP1L (ATPase H+ transporting accessory protein 1 like)

Identity

Alias_namesATPase, H+ transporting, lysosomal accessory protein 1-like
Other alias-
HGNC (Hugo) ATP6AP1L
LocusID (NCBI) 92270
Atlas_Id 60634
Location 5q14.2  [Link to chromosome band 5q14]
Location_base_pair Starts at 82279462 and ends at 82319932 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)ATP6AP1L   28091
Cards
Entrez_Gene (NCBI)ATP6AP1L  92270  ATPase H+ transporting accessory protein 1 like
Aliases
GeneCards (Weizmann)ATP6AP1L
Ensembl hg19 (Hinxton)ENSG00000205464 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000205464 [Gene_View]  chr5:82279462-82319932 [Contig_View]  ATP6AP1L [Vega]
ICGC DataPortalENSG00000205464
TCGA cBioPortalATP6AP1L
AceView (NCBI)ATP6AP1L
Genatlas (Paris)ATP6AP1L
WikiGenes92270
SOURCE (Princeton)ATP6AP1L
Genetics Home Reference (NIH)ATP6AP1L
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6AP1L  -     chr5:82279462-82319932 +  5q14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6AP1L  -     5q14.2   [Description]    (hg19-Feb_2009)
EnsemblATP6AP1L - 5q14.2 [CytoView hg19]  ATP6AP1L - 5q14.2 [CytoView hg38]
Mapping of homologs : NCBIATP6AP1L [Mapview hg19]  ATP6AP1L [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK022625 AK094973 AK123303 BC093982 BC112191
RefSeq transcript (Entrez)NM_001017971 NM_001039779 NM_001349371 NM_001349372 NM_001349373 NM_001349374
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP6AP1L
Cluster EST : UnigeneHs.732735 [ NCBI ]
CGAP (NCI)Hs.732735
Alternative Splicing GalleryENSG00000205464
Gene ExpressionATP6AP1L [ NCBI-GEO ]   ATP6AP1L [ EBI - ARRAY_EXPRESS ]   ATP6AP1L [ SEEK ]   ATP6AP1L [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6AP1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)92270
GTEX Portal (Tissue expression)ATP6AP1L
Human Protein AtlasENSG00000205464-ATP6AP1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ52LC2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ52LC2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ52LC2
Splice isoforms : SwissVarQ52LC2
PhosPhoSitePlusQ52LC2
Domains : Interpro (EBI)ATPase_V1-cplx_s1su   
Domain families : Pfam (Sanger)ATP-synt_S1 (PF05827)   
Domain families : Pfam (NCBI)pfam05827   
Conserved Domain (NCBI)ATP6AP1L
DMDM Disease mutations92270
Blocks (Seattle)ATP6AP1L
SuperfamilyQ52LC2
Human Protein Atlas [tissue]ENSG00000205464-ATP6AP1L [tissue]
Peptide AtlasQ52LC2
HPRD18710
IPIIPI00015115   IPI00847863   
Protein Interaction databases
DIP (DOE-UCLA)Q52LC2
IntAct (EBI)Q52LC2
FunCoupENSG00000205464
BioGRIDATP6AP1L
STRING (EMBL)ATP6AP1L
ZODIACATP6AP1L
Ontologies - Pathways
QuickGOQ52LC2
Ontology : AmiGOATP hydrolysis coupled proton transport  integral component of membrane  proton-transporting V-type ATPase, V1 domain  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATPase activity, rotational mechanism  
Ontology : EGO-EBIATP hydrolysis coupled proton transport  integral component of membrane  proton-transporting V-type ATPase, V1 domain  proton-transporting ATP synthase activity, rotational mechanism  proton-transporting ATPase activity, rotational mechanism  
NDEx NetworkATP6AP1L
Atlas of Cancer Signalling NetworkATP6AP1L
Wikipedia pathwaysATP6AP1L
Orthology - Evolution
OrthoDB92270
GeneTree (enSembl)ENSG00000205464
Phylogenetic Trees/Animal Genes : TreeFamATP6AP1L
HOVERGENQ52LC2
HOGENOMQ52LC2
Homologs : HomoloGeneATP6AP1L
Homology/Alignments : Family Browser (UCSC)ATP6AP1L
Gene fusions - Rearrangements
Tumor Fusion PortalATP6AP1L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6AP1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6AP1L
dbVarATP6AP1L
ClinVarATP6AP1L
1000_GenomesATP6AP1L 
Exome Variant ServerATP6AP1L
ExAC (Exome Aggregation Consortium)ENSG00000205464
GNOMAD BrowserENSG00000205464
Genetic variants : HAPMAP92270
Genomic Variants (DGV)ATP6AP1L [DGVbeta]
DECIPHERATP6AP1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6AP1L 
Mutations
ICGC Data PortalATP6AP1L 
TCGA Data PortalATP6AP1L 
Broad Tumor PortalATP6AP1L
OASIS PortalATP6AP1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6AP1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6AP1L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATP6AP1L
DgiDB (Drug Gene Interaction Database)ATP6AP1L
DoCM (Curated mutations)ATP6AP1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6AP1L (select a term)
intoGenATP6AP1L
Cancer3DATP6AP1L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETATP6AP1L
MedgenATP6AP1L
Genetic Testing Registry ATP6AP1L
NextProtQ52LC2 [Medical]
TSGene92270
GENETestsATP6AP1L
Target ValidationATP6AP1L
Huge Navigator ATP6AP1L [HugePedia]
snp3D : Map Gene to Disease92270
BioCentury BCIQATP6AP1L
ClinGenATP6AP1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD92270
Chemical/Pharm GKB GenePA164716384
Clinical trialATP6AP1L
Miscellaneous
canSAR (ICR)ATP6AP1L (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6AP1L
EVEXATP6AP1L
GoPubMedATP6AP1L
iHOPATP6AP1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Nov 20 19:19:37 CET 2017

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