ENSMUSG00000060708


Mus musculus

Features
Gene ID: ENSMUSG00000060708
  
Biological name :Bloc1s4
  
Synonyms : Biosis of lysosome-related organelles complex 1 subunit 4 / Bloc1s4 / Q8VED2
  
Possible biological names infered from orthology : biogenesis of lysosomal organelles complex 1 subunit 4 / Q9NUP1
  
Species: Mus musculus
  
Chr. number: 5
Strand: -1
Band: B3
Gene start: 36747378
Gene end: 36748650
  
Corresponding Affymetrix probe sets: 10529577 (MoGene1.0st)   1418834_at (Mouse Genome 430 2.0 Array)   1447620_at (Mouse Genome 430 2.0 Array)   1459783_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000071840
NCBI entrez gene - 117197     See in Manteia.
MGI - MGI:1929230
RefSeq - NM_133724
RefSeq Peptide - NP_598485
swissprot - Q8VED2
Ensembl - ENSMUSG00000060708
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bloc1s4ENSDARG00000007597Danio rerio
 ENSGALG00000013591Gallus gallus
 Q9NUP1ENSG00000186222Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR024857  Cappuccino


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008089 anterograde axonal transport IMP
 biological_processGO:0031175 neuron projection development NAS
 biological_processGO:0032438 melanosome organization IMP
 biological_processGO:0048490 anterograde synaptic vesicle transport IMP
 biological_processGO:0050885 neuromuscular process controlling balance IMP
 biological_processGO:0070527 platelet aggregation IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0031083 BLOC-1 complex IEA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI


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: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0000609 abnormal liver physiology "aberrant function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0002136 abnormal kidney physiology "altered ability or inability to excrete urine, not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0002980 abnormal postural reflex "failure to respond with the normal extension of legs to maintain balance when the cage is tilted" [smb:Susan M. Bello , Mouse Genome Informatics Curator, J:88306]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0003173 decreased lysosomal enzyme secretion "production of glycoprotein hydrolytic enzymes is decreased compared to normal" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0004725 decreased platelet serotonin level "reduced concentration of serotonin in the platelets; this biochemical messenger and regulator, found in the CNS, gastrointestinal tract, and produced by platelets mediates neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0004867 decreased platelet calcium level "decreased concentration in the platelet of this bivalent element" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 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: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Bloc1s4cno/Bloc1s4cno
Genetic Background: involves: C3H/HeJ

 MP:0005077 abnormal melanogenesis "failure of or anomaly in the biosynthetic pathway of melanin formation in cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:5346]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0005098 abnormal choroid morphology "anomalous structure of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0005100 abnormal choroid pigmentation "anomalous coloring of the thin, highly vascularized membrane covering most of the posterior of the eye between the retina and the sclera" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0005172 lack of eye pigmentation "visual organs are devoid of coloring pigment in relation to control animals, usually resulting in a red or pink color" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0005191 head tilt "condition in which the portion of the body containing the brain and organs of sight, hearing, taste, and smell lists to the side" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0005408 hypopigmentation "dilution of the pigment in the body" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0005606 increased bleeding time "greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 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]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0009446 abnormal platelet dense granule physiology "any functional anomaly of the specialized secretory organelles located in the small, irregularly shaped anuclear cells derived from fragmentation of precursor megakaryocytes that contain adenine nucleotides (ADP and ATP), ionized calcium, histamine, serotonin, and epinephrine" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0009448 decreased platelet ATP level "reduced concentration of the major energy source adenosine triphosphate produced by dense bodies located in platelets" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0009549 impaired platelet aggregation "decrease in the ability of one platelet to one or more other platelets via adhesion molecules" [GO:0070527]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

 MP:0020432 decreased platelet dense granule number "decreased number of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin" [orcid.org/0000-0003-4606-0597]
Show

Allelic Composition: Lipetm1Gam/Lipetm1Gam
Genetic Background: involves: 129S4/SvJae

  


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






 

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