Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3)

Identity

Alias (NCBI)BLOS3
HPS8
RP
HGNC (Hugo) BLOC1S3
HGNC Alias symbBLOS3
HPS8
HGNC Alias nameBLOC-1 subunit 3
 Biogenesis of Lysosome-related Organelles complex-1 Subunit 3
 Hermansky-Pudlak syndrome 8
LocusID (NCBI) 388552
Atlas_Id 60762
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 45178745 and ends at 45181801 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)BLOC1S3   20914
LRG (Locus Reference Genomic)LRG_546
Cards
Entrez_Gene (NCBI)BLOC1S3  388552  biogenesis of lysosomal organelles complex 1 subunit 3
AliasesBLOS3; HPS8; RP
GeneCards (Weizmann)BLOC1S3
Ensembl hg19 (Hinxton)ENSG00000189114 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000189114 [Gene_View]  ENSG00000189114 [Sequence]  chr19:45178745-45181801 [Contig_View]  BLOC1S3 [Vega]
ICGC DataPortalENSG00000189114
TCGA cBioPortalBLOC1S3
AceView (NCBI)BLOC1S3
Genatlas (Paris)BLOC1S3
WikiGenes388552
SOURCE (Princeton)BLOC1S3
Genetics Home Reference (NIH)BLOC1S3
Genomic and cartography
GoldenPath hg38 (UCSC)BLOC1S3  -     chr19:45178745-45181801 +  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BLOC1S3  -     19q13.32   [Description]    (hg19-Feb_2009)
GoldenPathBLOC1S3 - 19q13.32 [CytoView hg19]  BLOC1S3 - 19q13.32 [CytoView hg38]
ImmunoBaseENSG00000189114
genome Data Viewer NCBIBLOC1S3 [Mapview hg19]  
OMIM609762   614077   
Gene and transcription
Genbank (Entrez)AA436323 AK130151 AK130186 AK296695 AY531266
RefSeq transcript (Entrez)NM_212550
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BLOC1S3
Alternative Splicing GalleryENSG00000189114
Gene ExpressionBLOC1S3 [ NCBI-GEO ]   BLOC1S3 [ EBI - ARRAY_EXPRESS ]   BLOC1S3 [ SEEK ]   BLOC1S3 [ MEM ]
Gene Expression Viewer (FireBrowse)BLOC1S3 [ Firebrowse - Broad ]
GenevisibleExpression of BLOC1S3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)388552
GTEX Portal (Tissue expression)BLOC1S3
Human Protein AtlasENSG00000189114-BLOC1S3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6QNY0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6QNY0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6QNY0
Splice isoforms : SwissVarQ6QNY0
PhosPhoSitePlusQ6QNY0
Domains : Interpro (EBI)BLOC-1_complex_su-3   
Domain families : Pfam (Sanger)BLOC1S3 (PF15753)   
Domain families : Pfam (NCBI)pfam15753   
Conserved Domain (NCBI)BLOC1S3
DMDM Disease mutations388552
Blocks (Seattle)BLOC1S3
SuperfamilyQ6QNY0
Human Protein Atlas [tissue]ENSG00000189114-BLOC1S3 [tissue]
Peptide AtlasQ6QNY0
HPRD12527
IPIIPI00397721   IPI00442804   
Protein Interaction databases
DIP (DOE-UCLA)Q6QNY0
IntAct (EBI)Q6QNY0
FunCoupENSG00000189114
BioGRIDBLOC1S3
STRING (EMBL)BLOC1S3
ZODIACBLOC1S3
Ontologies - Pathways
QuickGOQ6QNY0
Ontology : AmiGOeye development  molecular_function  protein binding  cell  cytosol  anterograde axonal transport  protein transmembrane transporter activity  transport vesicle  platelet activation  BLOC-1 complex  BLOC-1 complex  neuron projection development  melanosome transport  melanosome organization  positive regulation of natural killer cell activation  secretion of lysosomal enzymes  endosome to melanosome transport  response to drug  pigmentation  anterograde synaptic vesicle transport  platelet dense granule organization  protein transmembrane transport  axon cytoplasm  
Ontology : EGO-EBIeye development  molecular_function  protein binding  cell  cytosol  anterograde axonal transport  protein transmembrane transporter activity  transport vesicle  platelet activation  BLOC-1 complex  BLOC-1 complex  neuron projection development  melanosome transport  melanosome organization  positive regulation of natural killer cell activation  secretion of lysosomal enzymes  endosome to melanosome transport  response to drug  pigmentation  anterograde synaptic vesicle transport  platelet dense granule organization  protein transmembrane transport  axon cytoplasm  
NDEx NetworkBLOC1S3
Atlas of Cancer Signalling NetworkBLOC1S3
Wikipedia pathwaysBLOC1S3
Orthology - Evolution
OrthoDB388552
GeneTree (enSembl)ENSG00000189114
Phylogenetic Trees/Animal Genes : TreeFamBLOC1S3
HOGENOMQ6QNY0
Homologs : HomoloGeneBLOC1S3
Homology/Alignments : Family Browser (UCSC)BLOC1S3
Gene fusions - Rearrangements
Fusion : QuiverBLOC1S3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBLOC1S3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BLOC1S3
dbVarBLOC1S3
ClinVarBLOC1S3
1000_GenomesBLOC1S3 
Exome Variant ServerBLOC1S3
GNOMAD BrowserENSG00000189114
Varsome BrowserBLOC1S3
Genetic variants : HAPMAP388552
Genomic Variants (DGV)BLOC1S3 [DGVbeta]
DECIPHERBLOC1S3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBLOC1S3 
Mutations
ICGC Data PortalBLOC1S3 
TCGA Data PortalBLOC1S3 
Broad Tumor PortalBLOC1S3
OASIS PortalBLOC1S3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBLOC1S3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBLOC1S3
Mutations and Diseases : HGMDBLOC1S3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch BLOC1S3
DgiDB (Drug Gene Interaction Database)BLOC1S3
DoCM (Curated mutations)BLOC1S3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BLOC1S3 (select a term)
intoGenBLOC1S3
Cancer3DBLOC1S3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609762    614077   
Orphanet19199   
DisGeNETBLOC1S3
MedgenBLOC1S3
Genetic Testing Registry BLOC1S3
NextProtQ6QNY0 [Medical]
TSGene388552
GENETestsBLOC1S3
Target ValidationBLOC1S3
Huge Navigator BLOC1S3 [HugePedia]
snp3D : Map Gene to Disease388552
BioCentury BCIQBLOC1S3
ClinGenBLOC1S3
Clinical trials, drugs, therapy
Protein Interactions : CTD388552
Pharm GKB GenePA134884924
Clinical trialBLOC1S3
Miscellaneous
canSAR (ICR)BLOC1S3 (select the gene name)
HarmonizomeBLOC1S3
DataMed IndexBLOC1S3
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBLOC1S3
EVEXBLOC1S3
GoPubMedBLOC1S3
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 : Sat Aug 22 19:06:34 CEST 2020

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