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

Identity

Alias (NCBI)BLOC3S1
HPS
HGNC (Hugo) HPS1
HGNC Alias symbBLOC3S1
HGNC Previous nameHPS
HGNC Previous nameHermansky-Pudlak syndrome
 Hermansky-Pudlak syndrome 1
LocusID (NCBI) 3257
Atlas_Id 64416
Location 10q24.2  [Link to chromosome band 10q24]
Location_base_pair Starts at 98429146 and ends at 98446963 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)
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    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]  ENSG00000107521 [Sequence]  chr10:98429146-98446963 [Contig_View]  HPS1 [Vega]
ICGC DataPortalENSG00000107521
TCGA cBioPortalHPS1
AceView (NCBI)HPS1
Genatlas (Paris)HPS1
SOURCE (Princeton)HPS1
Genetics Home Reference (NIH)HPS1
Genomic and cartography
GoldenPath hg38 (UCSC)HPS1  -     chr10:98429146-98446963 -  10q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HPS1  -     10q24.2   [Description]    (hg19-Feb_2009)
GoldenPathHPS1 - 10q24.2 [CytoView hg19]  HPS1 - 10q24.2 [CytoView hg38]
ImmunoBaseENSG00000107521
Genome Data Viewer NCBIHPS1 [Mapview hg19]  
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
Consensus coding sequences : CCDS (NCBI)HPS1
Gene ExpressionHPS1 [ NCBI-GEO ]   HPS1 [ EBI - ARRAY_EXPRESS ]   HPS1 [ SEEK ]   HPS1 [ MEM ]
Gene Expression Viewer (FireBrowse)HPS1 [ Firebrowse - Broad ]
GenevisibleExpression of HPS1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3257
GTEX Portal (Tissue expression)HPS1
Human Protein AtlasENSG00000107521-HPS1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ92902
Domains : Interpro (EBI)FUZ/MON1/HPS1_longin_1    FUZ/MON1/HPS1_longin_2    FUZ/MON1/HPS1_longin_3    HPS1   
Domain families : Pfam (Sanger)Fuz_longin_1 (PF19036)    Fuz_longin_2 (PF19037)    Fuz_longin_3 (PF19038)   
Domain families : Pfam (NCBI)pfam19036    pfam19037    pfam19038   
Conserved Domain (NCBI)HPS1
SuperfamilyQ92902
AlphaFold pdb e-kbQ92902   
Human Protein Atlas [tissue]ENSG00000107521-HPS1 [tissue]
HPRD05403
Protein Interaction databases
DIP (DOE-UCLA)Q92902
IntAct (EBI)Q92902
BioGRIDHPS1
STRING (EMBL)HPS1
ZODIACHPS1
Ontologies - Pathways
QuickGOQ92902
Ontology : AmiGOguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  lysosome  cytosol  lysosome organization  visual perception  vesicle-mediated transport  BLOC-3 complex  BLOC-3 complex  cytoplasmic vesicle  protein dimerization activity  regulation of catalytic activity  response to stimulus  melanosome assembly  melanosome assembly  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  guanyl-nucleotide exchange factor activity  protein binding  cytoplasm  lysosome  cytosol  lysosome organization  visual perception  vesicle-mediated transport  BLOC-3 complex  BLOC-3 complex  cytoplasmic vesicle  protein dimerization activity  regulation of catalytic activity  response to stimulus  melanosome assembly  melanosome assembly  
NDEx NetworkHPS1
Atlas of Cancer Signalling NetworkHPS1
Wikipedia pathwaysHPS1
Orthology - Evolution
OrthoDB3257
GeneTree (enSembl)ENSG00000107521
Phylogenetic Trees/Animal Genes : TreeFamHPS1
Homologs : HomoloGeneHPS1
Homology/Alignments : Family Browser (UCSC)HPS1
Gene fusions - Rearrangements
Fusion : QuiverHPS1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHPS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HPS1
dbVarHPS1
ClinVarHPS1
MonarchHPS1
1000_GenomesHPS1 
Exome Variant ServerHPS1
GNOMAD BrowserENSG00000107521
Varsome BrowserHPS1
ACMGHPS1 variants
VarityQ92902
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]  
Somatic Mutations in Cancer : COSMIC3DHPS1
Mutations and Diseases : HGMDHPS1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaHPS1
DgiDB (Drug Gene Interaction Database)HPS1
DoCM (Curated mutations)HPS1
CIViC (Clinical Interpretations of Variants in Cancer)HPS1
Cancer3DHPS1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM203300    604982   
Orphanet19195   
DisGeNETHPS1
MedgenHPS1
Genetic Testing Registry HPS1
NextProtQ92902 [Medical]
GENETestsHPS1
Target ValidationHPS1
Huge Navigator HPS1 [HugePedia]
ClinGenHPS1
Clinical trials, drugs, therapy
MyCancerGenomeHPS1
Protein Interactions : CTDHPS1
Pharm GKB GenePA35101
PharosQ92902
Clinical trialHPS1
Miscellaneous
canSAR (ICR)HPS1
HarmonizomeHPS1
DataMed IndexHPS1
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHPS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:53:10 CEST 2021

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