ENSG00000104164


Homo sapiens

Features
Gene ID: ENSG00000104164
  
Biological name :BLOC1S6
  
Synonyms : biogenesis of lysosomal organelles complex 1 subunit 6 / BLOC1S6 / Q9UL45
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: 1
Band: q21.1
Gene start: 45587123
Gene end: 45615999
  
Corresponding Affymetrix probe sets: 222826_at (Human Genome U133 Plus 2.0 Array)   224883_at (Human Genome U133 Plus 2.0 Array)   224892_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000454715
Ensembl peptide - ENSP00000455021
Ensembl peptide - ENSP00000455439
Ensembl peptide - ENSP00000455599
Ensembl peptide - ENSP00000456851
Ensembl peptide - ENSP00000457077
Ensembl peptide - ENSP00000457478
Ensembl peptide - ENSP00000220531
Ensembl peptide - ENSP00000454438
Ensembl peptide - ENSP00000454537
Ensembl peptide - ENSP00000454638
Ensembl peptide - ENSP00000454803
Ensembl peptide - ENSP00000456067
Ensembl peptide - ENSP00000456152
Ensembl peptide - ENSP00000456624
NCBI entrez gene - 26258     See in Manteia.
OMIM - 604310
RefSeq - NM_012388
RefSeq - NM_001311255
RefSeq - NM_001311256
RefSeq Peptide - NP_036520
RefSeq Peptide - NP_001298185
RefSeq Peptide - NP_001298184
swissprot - Q9UL45
swissprot - H3BML5
swissprot - H3BMT8
swissprot - H3BN13
swissprot - H3BN73
swissprot - H3BNE3
swissprot - H3BPR6
swissprot - H3BR42
swissprot - H3BRA4
swissprot - H3BST1
swissprot - H3BU57
Ensembl - ENSG00000104164
  
Related genetic diseases (OMIM): 614171 - ?Hermansky-pudlak syndrome 9, 614171
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
 bloc1s6ENSDARG00000042933Danio rerio
 BLOC1S6ENSGALG00000040735Gallus gallus
 Q9R0C0ENSMUSG00000005804Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR017242  BLOC-1 complex, pallidin subunit
 IPR028119  Snapin/Pallidin/Snn1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0008089 anterograde axonal transport IEA
 biological_processGO:0016081 synaptic vesicle docking NAS
 biological_processGO:0030318 melanocyte differentiation IEA
 biological_processGO:0031175 neuron projection development IEA
 biological_processGO:0032402 melanosome transport IDA
 biological_processGO:0032438 melanosome organization NAS
 biological_processGO:0032816 positive regulation of natural killer cell activation IEA
 biological_processGO:0033299 secretion of lysosomal enzymes IEA
 biological_processGO:0035646 endosome to melanosome transport IDA
 biological_processGO:0043473 pigmentation IEA
 biological_processGO:0048490 anterograde synaptic vesicle transport IEA
 biological_processGO:0050942 positive regulation of pigment cell differentiation IDA
 biological_processGO:0061025 membrane fusion IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0019898 extrinsic component of membrane IDA
 cellular_componentGO:0030133 transport vesicle IDA
 cellular_componentGO:0031083 BLOC-1 complex IEA
 cellular_componentGO:0031201 SNARE complex IDA
 cellular_componentGO:0098793 presynapse IEA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019905 syntaxin binding TAS
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0051015 actin filament binding IDA


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:0001010 Hypopigmentation of the skin 
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 HP:0001107 Ocular albinism 
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 HP:0001873 Thrombocytopenia 
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 HP:0001882 Leukopenia 
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 HP:0006934 Congenital nystagmus "Nystagmus dating from or present at birth." [HPO:curators]
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 HP:0007894 Hypopigmentation of the fundus 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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