3257


Homo sapiens (NCBI)
lysosomeactivityproteinorganizationvisualperceptionresponsestimulusmelanosomeassemblycytoplasmcytosolbloc-complexcytoplasmicvesicleguanyl-nucleotideexchangefactorbindingdimerization

Features
Gene ID: 3257
  
Biological name :
  
Synonyms : BLOC3S1|HPS / HPS1 / HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens (NCBI)
  
Chr. number:
Strand:
Band:
Gene start:
Gene end:
  
Corresponding Affymetrix probe sets: 203308_x_at (Human Genome U133 Plus 2.0 Array)   203309_s_at (Human Genome U133 Plus 2.0 Array)   210112_at (Human Genome U133 Plus 2.0 Array)   217354_s_at (Human Genome U133 Plus 2.0 Array)   239382_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: RefSeq - 1370456975
RefSeq - 1017029419
RefSeq - 1017029434
RefSeq - 1017029436
RefSeq - 1017029460
RefSeq - 1017029475
RefSeq - 1017029482
RefSeq - 1017029509
RefSeq - 1017029511
RefSeq - 1017029517
RefSeq - 1017029522
RefSeq - 1017029529
RefSeq - 1017029534
RefSeq - 1017029536
RefSeq - 1017029540
RefSeq - 1034568019
RefSeq - 1034568021
RefSeq - 1034568026
RefSeq - 1034568028
RefSeq - 1370456969
RefSeq - 1017029405
RefSeq - 33286414
RefSeq - 33286416
RefSeq - 530393540
RefSeq - 914101166
RefSeq - NC_000010.11
RefSeq - NG_009646.1
RefSeq - NP_000186.2
RefSeq - NP_001298274.1
RefSeq - NP_001309405.1
RefSeq - NP_001309406.1
RefSeq - NP_001309407.1
RefSeq - NP_001309408.1
RefSeq - NP_001309409.1
RefSeq - NP_001309410.1
RefSeq - NP_001309411.1
RefSeq - NP_001309412.1
RefSeq - NP_001309413.1
RefSeq - NP_001309414.1
RefSeq - NP_001309416.1
RefSeq - NP_001309418.1
RefSeq - NP_001309419.1
RefSeq - NP_001309420.1
RefSeq - NP_001309421.1
RefSeq - NP_872577.1
RefSeq - XP_005269814.1
RefSeq - XP_016871659.1
RefSeq - XP_016871660.1
RefSeq - XP_016871661.1
RefSeq - XP_016871662.1
RefSeq - XP_024303739.1
RefSeq - XP_024303740.1
RefSeq - XR_001747101.2
RefSeq - XR_001747098.1
RefSeq - XM_005269757.4
RefSeq - XM_017016170.1
RefSeq - XM_017016171.2
RefSeq - XM_017016172.2
RefSeq - NM_000195.4
RefSeq - NM_001311345.1
RefSeq - NM_001322476.1
RefSeq - NM_001322477.1
RefSeq - NM_001322478.1
RefSeq - NM_001322479.1
RefSeq - NM_001322480.1
RefSeq - NM_001322481.1
RefSeq - NM_001322482.1
RefSeq - NM_001322483.1
RefSeq - NM_001322484.1
RefSeq - NM_001322485.1
RefSeq - NM_001322487.1
RefSeq - NM_001322489.1
RefSeq - NM_001322490.1
RefSeq - NM_001322491.1
RefSeq - NM_001322492.1
RefSeq - NM_182637.1
RefSeq - NM_182638.1
RefSeq - NM_182639.3
RefSeq - XM_017016173.1
RefSeq - XM_024447971.1
RefSeq - XM_024447972.1
RefSeq - XR_001747099.2
RefSeq - XR_001747100.2
  
See co-cited genes in PubMed
Warning: Please see the Ensembl gene model ENSG00000107521 to get all the annotations available for this gene.


Gene Ontology (GO)
cellular component organizationsystem processcellular pigmentationcellular component biogenesiscellular component organizationsystem processcellular pigmentationcellular component biogenesiscellular component organizationsystem processcellular pigmentationcellular component biogenesiscellular component organizationsystem processcellular pigmentationcellular component biogenesiscellular component organizationsystem processcellular pigmentationcellular component biogenesiscellular component organizationsystem processcellular pigmentationcellular component biogenesiscellular component organizationsystem processcellular pigmentationcellular component biogenesiscellular component organizationsystem processcellular pigmentationcellular component biogenesiscellular component organizationsystem processcellular pigmentationcellular component biogenesiscellular component organizationsystem processcellular pigmentationcellular component biogenesiscellular component organizationcellular component organizationsystem processsystem processcellular pigmentationcellular pigmentationcellular component biogenesiscellular component biogenesis
protein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein binding
cellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellorganelleprotein-containing complexcellcellorganelleorganelleprotein-containing complexprotein-containing complex
TypeGO IDTermEv.Code
 biological_processGO:0007040 lysosome organization TAS
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:1903232 melanosome assembly IDA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005764 lysosome TAS
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0031085 BLOC-3 complex IPI
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046983 protein dimerization activity IPI


Pathways (from Reactome)
Pathway description
No match


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






 

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