ENSMUSG00000090247


Mus musculus

Features
Gene ID: ENSMUSG00000090247
  
Biological name :Bloc1s1
  
Synonyms : Biosis of lysosome-related organelles complex 1 subunit 1 / Bloc1s1 / O55102
  
Possible biological names infered from orthology : AC009779.3 / biogenesis of lysosomal organelles complex 1 subunit 1 / P78537
  
Species: Mus musculus
  
Chr. number: 10
Strand: -1
Band: D3
Gene start: 128917882
Gene end: 128924035
  
Corresponding Affymetrix probe sets: 10373594 (MoGene1.0st)   10457924 (MoGene1.0st)   1422614_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000026405
Ensembl peptide - ENSMUSP00000117408
Ensembl peptide - ENSMUSP00000114321
NCBI entrez gene - 14533     See in Manteia.
MGI - MGI:1195276
RefSeq - NM_015740
RefSeq - XM_006513229
RefSeq Peptide - NP_056555
swissprot - D3Z4L7
swissprot - O55102
swissprot - D3YVM8
Ensembl - ENSMUSG00000090247
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bloc1s1ENSDARG00000014171Danio rerio
 AC009779.3ENSG00000258311Homo sapiens
 P78537ENSG00000135441Homo sapiens


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


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 IMP
 biological_processGO:0009060 aerobic respiration ISS
 biological_processGO:0016197 endosomal transport IBA
 biological_processGO:0018394 peptidyl-lysine acetylation ISO
 biological_processGO:0031175 neuron projection development NAS
 biological_processGO:0032418 lysosome localization ISO
 biological_processGO:0048490 anterograde synaptic vesicle transport IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005758 mitochondrial intermembrane space ISO
 cellular_componentGO:0005759 mitochondrial matrix ISO
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005769 early endosome IDA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031083 BLOC-1 complex IEA
 cellular_componentGO:0099078 BORC complex ISO
 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
 MP:0005058 abnormal lysosome morphology "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pld1tm3Mafr/Pld1tm3Mafr,Pld2tm1(KOMP)Vlcg/Pld2tm1(KOMP)Vlcg
Genetic Background: involves: C57BL/6 * C57BL/6NTac

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Asxl1tm1a(EUCOMM)Wtsi/Asxl1+
Genetic Background: C57BL/6N-Asxl1tm1a(EUCOMM)Wtsi/Cnrm

 MP:0006036 abnormal mitochondrial physiology 
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Allelic Composition: Bmpr2tm1Mmue/Bmpr2+,Smad1tm1Rjle/Smad1+
Genetic Background: involves: 129S1/SvImJ * 129S6/SvEvTac * C57BL/6

 MP:0008260 abnormal autophagy "abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmpr2tm1Mmue/Bmpr2+,Smad1tm1Rjle/Smad1+
Genetic Background: involves: 129S1/SvImJ * 129S6/SvEvTac * C57BL/6

Allelic Composition: Bloc1s1tm1.1Wli/Bloc1s1tm1.1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0008480 absent eye pigmentation "absence of melanin (pigment) in the eye either due to absent melanocytes or failure of melanin synthesis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bloc1s1tm1.1Wli/Bloc1s1tm1.1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0008546 abnormal vesicle-mediated transport "anomaly in the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell" [GO:0016192]
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Allelic Composition: Bloc1s1tm1.1Wli/Bloc1s1tm1.1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Bloc1s1tm1.1Wli/Bloc1s1tm1.1Wli
Genetic Background: involves: 129 * C57BL/6J

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: Bmpr2tm1Mmue/Bmpr2+,Smad1tm1Rjle/Smad1+
Genetic Background: involves: 129S1/SvImJ * 129S6/SvEvTac * C57BL/6

 MP:0014046 abnormal mitophagy "any anomaly in the autophagic process in which mitochondria are delivered to the vacuole and degraded in response to changing cellular conditions" [MGI:Anna, PMID:22743996]
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Allelic Composition: Bmpr2tm1Mmue/Bmpr2+,Smad1tm1Rjle/Smad1+
Genetic Background: involves: 129S1/SvImJ * 129S6/SvEvTac * C57BL/6

  


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






 

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