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ATP6V1H (ATPase H+ transporting V1 subunit H)

Identity

Alias_namesATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H
ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H
Alias_symbol (synonym)CGI-11
SFD
VMA13
SFDalpha
SFDbeta
Other aliasMSTP042
NBP1
HGNC (Hugo) ATP6V1H
LocusID (NCBI) 51606
Atlas_Id 60650
Location 8q11.23  [Link to chromosome band 8q11]
Location_base_pair Starts at 53715543 and ends at 53843311 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)
ATP6V1H (8q11.23) / IVNS1ABP (1q25.3)ATP6V1H (8q11.23) / PBK (8p21.1)ATP6V1H (8q11.23) / RP1 (8q12.1)
ATP6V1H (8q11.23) / ST8SIA4 (5q21.1)FCHSD2 (11q13.4) / ATP6V1H (8q11.23)TRIP12 (2q36.3) / ATP6V1H (8q11.23)
ATP6V1H ST8SIA4ATP6V1H RP1

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)ATP6V1H   18303
Cards
Entrez_Gene (NCBI)ATP6V1H  51606  ATPase H+ transporting V1 subunit H
AliasesCGI-11; MSTP042; NBP1; SFD; 
SFDalpha; SFDbeta; VMA13
GeneCards (Weizmann)ATP6V1H
Ensembl hg19 (Hinxton)ENSG00000047249 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000047249 [Gene_View]  chr8:53715543-53843311 [Contig_View]  ATP6V1H [Vega]
ICGC DataPortalENSG00000047249
TCGA cBioPortalATP6V1H
AceView (NCBI)ATP6V1H
Genatlas (Paris)ATP6V1H
WikiGenes51606
SOURCE (Princeton)ATP6V1H
Genetics Home Reference (NIH)ATP6V1H
Genomic and cartography
GoldenPath hg38 (UCSC)ATP6V1H  -     chr8:53715543-53843311 -  8q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP6V1H  -     8q11.23   [Description]    (hg19-Feb_2009)
EnsemblATP6V1H - 8q11.23 [CytoView hg19]  ATP6V1H - 8q11.23 [CytoView hg38]
Mapping of homologs : NCBIATP6V1H [Mapview hg19]  ATP6V1H [Mapview hg38]
OMIM608861   
Gene and transcription
Genbank (Entrez)AF112204 AF113222 AF125105 AF132945 AF298777
RefSeq transcript (Entrez)NM_015941 NM_213619 NM_213620
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP6V1H
Cluster EST : UnigeneHs.491737 [ NCBI ]
CGAP (NCI)Hs.491737
Alternative Splicing GalleryENSG00000047249
Gene ExpressionATP6V1H [ NCBI-GEO ]   ATP6V1H [ EBI - ARRAY_EXPRESS ]   ATP6V1H [ SEEK ]   ATP6V1H [ MEM ]
Gene Expression Viewer (FireBrowse)ATP6V1H [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51606
GTEX Portal (Tissue expression)ATP6V1H
Human Protein AtlasENSG00000047249-ATP6V1H [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UI12   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UI12  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UI12
Splice isoforms : SwissVarQ9UI12
PhosPhoSitePlusQ9UI12
Domains : Interpro (EBI)ARM-like    ARM-type_foldATPase_V1-cplx_hsu    ATPase_V1-cplx_hsu_C   
Domain families : Pfam (Sanger)V-ATPase_H_C (PF11698)   
Domain families : Pfam (NCBI)pfam11698   
Conserved Domain (NCBI)ATP6V1H
DMDM Disease mutations51606
Blocks (Seattle)ATP6V1H
SuperfamilyQ9UI12
Human Protein Atlas [tissue]ENSG00000047249-ATP6V1H [tissue]
Peptide AtlasQ9UI12
HPRD10591
IPIIPI00296191   IPI00414079   IPI00980658   IPI00978544   IPI00973888   IPI00976409   IPI00981309   IPI00973766   IPI00973882   IPI00979241   
Protein Interaction databases
DIP (DOE-UCLA)Q9UI12
IntAct (EBI)Q9UI12
FunCoupENSG00000047249
BioGRIDATP6V1H
STRING (EMBL)ATP6V1H
ZODIACATP6V1H
Ontologies - Pathways
QuickGOQ9UI12
Ontology : AmiGOvacuolar proton-transporting V-type ATPase, V1 domain  vacuolar proton-transporting V-type ATPase, V1 domain  protein binding  lysosomal membrane  cytosol  plasma membrane  endocytosis  vacuolar acidification  vacuolar acidification  insulin receptor signaling pathway  ATP hydrolysis coupled proton transport  viral process  regulation of macroautophagy  ATPase activity  enzyme regulator activity  transferrin transport  ion transmembrane transport  proton-transporting ATPase activity, rotational mechanism  regulation of defense response to virus by virus  regulation of catalytic activity  extracellular exosome  phagosome acidification  
Ontology : EGO-EBIvacuolar proton-transporting V-type ATPase, V1 domain  vacuolar proton-transporting V-type ATPase, V1 domain  protein binding  lysosomal membrane  cytosol  plasma membrane  endocytosis  vacuolar acidification  vacuolar acidification  insulin receptor signaling pathway  ATP hydrolysis coupled proton transport  viral process  regulation of macroautophagy  ATPase activity  enzyme regulator activity  transferrin transport  ion transmembrane transport  proton-transporting ATPase activity, rotational mechanism  regulation of defense response to virus by virus  regulation of catalytic activity  extracellular exosome  phagosome acidification  
Pathways : KEGGOxidative phosphorylation    Lysosome    Phagosome    Synaptic vesicle cycle    Vibrio cholerae infection    Epithelial cell signaling in Helicobacter pylori infection    Tuberculosis    Rheumatoid arthritis   
NDEx NetworkATP6V1H
Atlas of Cancer Signalling NetworkATP6V1H
Wikipedia pathwaysATP6V1H
Orthology - Evolution
OrthoDB51606
GeneTree (enSembl)ENSG00000047249
Phylogenetic Trees/Animal Genes : TreeFamATP6V1H
HOVERGENQ9UI12
HOGENOMQ9UI12
Homologs : HomoloGeneATP6V1H
Homology/Alignments : Family Browser (UCSC)ATP6V1H
Gene fusions - Rearrangements
Fusion: TCGAATP6V1H ST8SIA4
Fusion: TCGAATP6V1H RP1
Fusion: Tumor Portal ATP6V1H
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP6V1H [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP6V1H
dbVarATP6V1H
ClinVarATP6V1H
1000_GenomesATP6V1H 
Exome Variant ServerATP6V1H
ExAC (Exome Aggregation Consortium)ENSG00000047249
GNOMAD BrowserENSG00000047249
Genetic variants : HAPMAP51606
Genomic Variants (DGV)ATP6V1H [DGVbeta]
DECIPHERATP6V1H [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP6V1H 
Mutations
ICGC Data PortalATP6V1H 
TCGA Data PortalATP6V1H 
Broad Tumor PortalATP6V1H
OASIS PortalATP6V1H [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATP6V1H  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATP6V1H
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 ATP6V1H
DgiDB (Drug Gene Interaction Database)ATP6V1H
DoCM (Curated mutations)ATP6V1H (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP6V1H (select a term)
intoGenATP6V1H
Cancer3DATP6V1H(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608861   
Orphanet
MedgenATP6V1H
Genetic Testing Registry ATP6V1H
NextProtQ9UI12 [Medical]
TSGene51606
GENETestsATP6V1H
Target ValidationATP6V1H
Huge Navigator ATP6V1H [HugePedia]
snp3D : Map Gene to Disease51606
BioCentury BCIQATP6V1H
ClinGenATP6V1H
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51606
Chemical/Pharm GKB GenePA38521
Clinical trialATP6V1H
Miscellaneous
canSAR (ICR)ATP6V1H (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP6V1H
EVEXATP6V1H
GoPubMedATP6V1H
iHOPATP6V1H
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:38:43 CET 2017

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