ENSG00000135441


Homo sapiens

Features
Gene ID: ENSG00000135441
  
Biological name :BLOC1S1
  
Synonyms : biogenesis of lysosomal organelles complex 1 subunit 1 / BLOC1S1 / P78537
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.2
Gene start: 55716037
Gene end: 55720087
  
Corresponding Affymetrix probe sets: 202592_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000450218
Ensembl peptide - ENSP00000450328
Ensembl peptide - ENSP00000446619
Ensembl peptide - ENSP00000447537
Ensembl peptide - ENSP00000448171
Ensembl peptide - ENSP00000448605
NCBI entrez gene - 2647     See in Manteia.
OMIM - 601444
RefSeq - NM_001487
RefSeq Peptide - NP_001478
swissprot - G8JLQ3
swissprot - H0YHA4
swissprot - P78537
swissprot - F8VP73
swissprot - F8W606
Ensembl - ENSG00000135441
  
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
 bloc1s1ENSDARG00000014171Danio rerio
 O55102ENSMUSG00000090247Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC009779.3ENSG0000025831177


Protein motifs (from Interpro)
Interpro ID Name
 IPR009395  Biogenesis of lysosome-related organelles complex 1 subunit 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008089 anterograde axonal transport ISS
 biological_processGO:0009060 aerobic respiration IMP
 biological_processGO:0016197 endosomal transport IBA
 biological_processGO:0018394 peptidyl-lysine acetylation IMP
 biological_processGO:0031175 neuron projection development ISS
 biological_processGO:0032418 lysosome localization IMP
 biological_processGO:0032438 melanosome organization NAS
 biological_processGO:0048490 anterograde synaptic vesicle transport ISS
 biological_processGO:0060155 platelet dense granule organization NAS
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005758 mitochondrial intermembrane space IEA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane TAS
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031083 BLOC-1 complex IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0099078 BORC complex IDA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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