ENSG00000189114


Homo sapiens

Features
Gene ID: ENSG00000189114
  
Biological name :BLOC1S3
  
Synonyms : biogenesis of lysosomal organelles complex 1 subunit 3 / BLOC1S3 / Q6QNY0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.32
Gene start: 45178745
Gene end: 45181801
  
Corresponding Affymetrix probe sets: 228244_at (Human Genome U133 Plus 2.0 Array)   230576_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000466798
Ensembl peptide - ENSP00000468281
Ensembl peptide - ENSP00000393840
NCBI entrez gene - 388552     See in Manteia.
OMIM - 609762
RefSeq - NM_212550
RefSeq Peptide - NP_997715
swissprot - K7EN58
swissprot - Q6QNY0
Ensembl - ENSG00000189114
  
Related genetic diseases (OMIM): 614077 - Hermansky-Pudlak syndrome 8, 614077
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bloc1s3ENSDARG00000068828Danio rerio
 CR387932.1ENSDARG00000097344Danio rerio
 Q5U5M8ENSMUSG00000057667Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC005779.2ENSG0000026754513


Protein motifs (from Interpro)
Interpro ID Name
 IPR017245  BLOC-1 complex, subunit 3


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001654 eye development IMP
 biological_processGO:0008089 anterograde axonal transport ISS
 biological_processGO:0030168 platelet activation IMP
 biological_processGO:0031175 neuron projection development ISS
 biological_processGO:0032402 melanosome transport IDA
 biological_processGO:0032438 melanosome organization NAS
 biological_processGO:0035646 endosome to melanosome transport IDA
 biological_processGO:0043473 pigmentation IMP
 biological_processGO:0048490 anterograde synaptic vesicle transport ISS
 biological_processGO:0060155 platelet dense granule organization NAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0030133 transport vesicle IDA
 cellular_componentGO:0031083 BLOC-1 complex IDA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000978 Ecchymoses 
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 HP:0001022 Albinism 
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 HP:0001107 Ocular albinism 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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