ENSMUSG00000057667


Mus musculus

Features
Gene ID: ENSMUSG00000057667
  
Biological name :Bloc1s3
  
Synonyms : Biosis of lysosome-related organelles complex 1 subunit 3 / Bloc1s3 / Q5U5M8
  
Possible biological names infered from orthology : AC005779.2 / biogenesis of lysosomal organelles complex 1 subunit 3 / Q6QNY0
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: A3
Gene start: 19504486
Gene end: 19508367
  
Corresponding Affymetrix probe sets: 10560530 (MoGene1.0st)   1427390_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000076624
NCBI entrez gene - 232946     See in Manteia.
MGI - MGI:2678952
RefSeq - XM_006539832
RefSeq - NM_177692
RefSeq - XM_006539831
RefSeq Peptide - NP_808360
swissprot - Q5U5M8
Ensembl - ENSMUSG00000057667
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bloc1s3ENSDARG00000068828Danio rerio
 CR387932.1ENSDARG00000097344Danio rerio
 AC005779.2ENSG00000267545Homo sapiens
 Q6QNY0ENSG00000189114Homo sapiens


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


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001654 eye development ISO
 biological_processGO:0007596 blood coagulation IMP
 biological_processGO:0008089 anterograde axonal transport IMP
 biological_processGO:0016197 endosomal transport IBA
 biological_processGO:0030168 platelet activation ISO
 biological_processGO:0031175 neuron projection development NAS
 biological_processGO:0032402 melanosome transport ISS
 biological_processGO:0032438 melanosome organization IMP
 biological_processGO:0032816 positive regulation of natural killer cell activation IMP
 biological_processGO:0033299 secretion of lysosomal enzymes IMP
 biological_processGO:0035646 endosome to melanosome transport ISS
 biological_processGO:0042493 response to drug IMP
 biological_processGO:0043473 pigmentation ISO
 biological_processGO:0048066 developmental pigmentation IMP
 biological_processGO:0048490 anterograde synaptic vesicle transport IMP
 biological_processGO:0060155 platelet dense granule organization IMP
 biological_processGO:0071806 protein transmembrane transport IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0030133 transport vesicle ISS
 cellular_componentGO:0031083 BLOC-1 complex ISO
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008320 protein transmembrane transporter activity IMP


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000371 diluted coat color "a coat color that appears lighter in intensity or paler than normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Trp63tm1Brd/Trp63tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001324 abnormal eye pigmentation "change in the normal black pigmentation of the eye to another color, or lack of color" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Trp63tm1Brd/Trp63tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003172 abnormal lysosome physiology "ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Trp63tm1Brd/Trp63tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0005072 abnormal hair follicle melanin granule "anomalous pigment paricles in the hair follicles" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Trp63tm1Brd/Trp63tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0005075 abnormal melanosome morphology "anomalous structure of these tissue-specific cytoplasmic organelles within which melanin pigments are synthesized and stored" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:5346]
Show

Allelic Composition: Trp63tm1Brd/Trp63tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0009779 enhanced behavioral response to anesthetic "increase or exceleration in the behavioral changes that follow exposure to a given amount of an anesthetizing agent" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Trp63tm1Brd/Trp63tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0010766 abnormal NK cell physiology "any functional anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [GOC:add, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:15771571]
Show

Allelic Composition: Trp63tm1Brd/Trp63tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011277 decreased tail pigmentation "visually detectable dilution of pigment present on the tail surface" [MGI:csmith]
Show

Allelic Composition: Trp63tm1Brd/Trp63tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011279 decreased ear pigmentation "visually detectable dilution of pigment present in the outer ear" [MGI:csmith]
Show

Allelic Composition: Trp63tm1Brd/Trp63tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

  


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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr