Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   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

HPS1 (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1)

Identity

Alias_namesHPS
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome 1
Alias_symbol (synonym)BLOC3S1
Other alias
HGNC (Hugo) HPS1
LocusID (NCBI) 3257
Atlas_Id 64416
Location 10q24.2  [Link to chromosome band 10q24]
Location_base_pair Starts at 98416198 and ends at 98446963 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HPS1 (10q24.2) / CHMP1A (16q24.3)HPS1 (10q24.2) / TBX15 (1p12)UBE2Q1 (1q21.3) / HPS1 (10q24.2)

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)HPS1   5163
LRG (Locus Reference Genomic)LRG_562
Cards
Entrez_Gene (NCBI)HPS1  3257  HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
AliasesBLOC3S1; HPS
GeneCards (Weizmann)HPS1
Ensembl hg19 (Hinxton)ENSG00000107521 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107521 [Gene_View]  chr10:98416198-98446963 [Contig_View]  HPS1 [Vega]
ICGC DataPortalENSG00000107521
TCGA cBioPortalHPS1
AceView (NCBI)HPS1
Genatlas (Paris)HPS1
WikiGenes3257
SOURCE (Princeton)HPS1
Genetics Home Reference (NIH)HPS1
Genomic and cartography
GoldenPath hg38 (UCSC)HPS1  -     chr10:98416198-98446963 -  10q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HPS1  -     10q24.2   [Description]    (hg19-Feb_2009)
EnsemblHPS1 - 10q24.2 [CytoView hg19]  HPS1 - 10q24.2 [CytoView hg38]
Mapping of homologs : NCBIHPS1 [Mapview hg19]  HPS1 [Mapview hg38]
OMIM203300   604982   
Gene and transcription
Genbank (Entrez)AK295821 AL702912 AL833734 BC000175 BC002514
RefSeq transcript (Entrez)NM_000195 NM_001311345 NM_001322476 NM_001322477 NM_001322478 NM_001322479 NM_001322480 NM_001322481 NM_001322482 NM_001322483 NM_001322484 NM_001322485 NM_001322487 NM_001322489 NM_001322490 NM_001322491 NM_001322492 NM_182637 NM_182638 NM_182639
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HPS1
Cluster EST : UnigeneHs.404568 [ NCBI ]
CGAP (NCI)Hs.404568
Alternative Splicing GalleryENSG00000107521
Gene ExpressionHPS1 [ NCBI-GEO ]   HPS1 [ EBI - ARRAY_EXPRESS ]   HPS1 [ SEEK ]   HPS1 [ MEM ]
Gene Expression Viewer (FireBrowse)HPS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3257
GTEX Portal (Tissue expression)HPS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92902   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92902  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92902
Splice isoforms : SwissVarQ92902
PhosPhoSitePlusQ92902
Domains : Interpro (EBI)HPS1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)HPS1
DMDM Disease mutations3257
Blocks (Seattle)HPS1
SuperfamilyQ92902
Human Protein AtlasENSG00000107521
Peptide AtlasQ92902
HPRD05403
IPIIPI00414969   IPI00221184   IPI00412056   IPI00607579   IPI00515111   
Protein Interaction databases
DIP (DOE-UCLA)Q92902
IntAct (EBI)Q92902
FunCoupENSG00000107521
BioGRIDHPS1
STRING (EMBL)HPS1
ZODIACHPS1
Ontologies - Pathways
QuickGOQ92902
Ontology : AmiGOguanyl-nucleotide exchange factor activity  protein binding  cytoplasm  lysosome  cytosol  integral component of plasma membrane  lysosome organization  visual perception  BLOC-3 complex  cytoplasmic vesicle  positive regulation of GTPase activity  protein dimerization activity  response to stimulus  membrane organization  melanosome assembly  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  protein binding  cytoplasm  lysosome  cytosol  integral component of plasma membrane  lysosome organization  visual perception  BLOC-3 complex  cytoplasmic vesicle  positive regulation of GTPase activity  protein dimerization activity  response to stimulus  membrane organization  melanosome assembly  
NDEx NetworkHPS1
Atlas of Cancer Signalling NetworkHPS1
Wikipedia pathwaysHPS1
Orthology - Evolution
OrthoDB3257
GeneTree (enSembl)ENSG00000107521
Phylogenetic Trees/Animal Genes : TreeFamHPS1
HOVERGENQ92902
HOGENOMQ92902
Homologs : HomoloGeneHPS1
Homology/Alignments : Family Browser (UCSC)HPS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHPS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPS1
dbVarHPS1
ClinVarHPS1
1000_GenomesHPS1 
Exome Variant ServerHPS1
ExAC (Exome Aggregation Consortium)HPS1 (select the gene name)
Genetic variants : HAPMAP3257
Genomic Variants (DGV)HPS1 [DGVbeta]
DECIPHERHPS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHPS1 
Mutations
ICGC Data PortalHPS1 
TCGA Data PortalHPS1 
Broad Tumor PortalHPS1
OASIS PortalHPS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHPS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHPS1
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch HPS1
DgiDB (Drug Gene Interaction Database)HPS1
DoCM (Curated mutations)HPS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HPS1 (select a term)
intoGenHPS1
Cancer3DHPS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM203300    604982   
Orphanet19195   
MedgenHPS1
Genetic Testing Registry HPS1
NextProtQ92902 [Medical]
TSGene3257
GENETestsHPS1
Target ValidationHPS1
Huge Navigator HPS1 [HugePedia]
snp3D : Map Gene to Disease3257
BioCentury BCIQHPS1
ClinGenHPS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3257
Chemical/Pharm GKB GenePA35101
Clinical trialHPS1
Miscellaneous
canSAR (ICR)HPS1 (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHPS1
EVEXHPS1
GoPubMedHPS1
iHOPHPS1
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 : Mon Sep 18 13:10:45 CEST 2017

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.