ENSMUSG00000038982


Mus musculus

Features
Gene ID: ENSMUSG00000038982
  
Biological name :Bloc1s5
  
Synonyms : Biosis of lysosome-related organelles complex 1 subunit 5 / Bloc1s5 / Q8R015
  
Possible biological names infered from orthology : biogenesis of lysosomal organelles complex 1 subunit 5 / BLOC1S5-TXNDC5 / BLOC1S5-TXNDC5 readthrough (NMD candidate) / Q8TDH9
  
Species: Mus musculus
  
Chr. number: 13
Strand: -1
Band: A3.3
Gene start: 38592842
Gene end: 38635109
  
Corresponding Affymetrix probe sets: 10408755 (MoGene1.0st)   1448979_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000036614
Ensembl peptide - ENSMUSP00000153368
Ensembl peptide - ENSMUSP00000153650
NCBI entrez gene - 17828     See in Manteia.
MGI - MGI:2178598
RefSeq - XM_006516573
RefSeq - NM_139063
RefSeq Peptide - NP_620702
swissprot - Q3TB02
swissprot - Q8R015
Ensembl - ENSMUSG00000038982
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bloc1s5ENSDARG00000111747Danio rerio
 Q5ZK77ENSGALG00000012782Gallus gallus
 BLOC1S5-TXNDC5ENSG00000259040Homo sapiens
 Q8TDH9ENSG00000188428Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR017243  Biogenesis of lysosome-related organelles complex 1 subunit 5


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008089 anterograde axonal transport IMP
 biological_processGO:0016192 vesicle-mediated transport IMP
 biological_processGO:0016197 endosomal transport IBA
 biological_processGO:0031175 neuron projection development NAS
 biological_processGO:0032402 melanosome transport ISS
 biological_processGO:0032474 otolith morphogenesis IMP
 biological_processGO:0035646 endosome to melanosome transport ISS
 biological_processGO:0048066 developmental pigmentation IMP
 biological_processGO:0048490 anterograde synaptic vesicle transport IMP
 biological_processGO:0050942 positive regulation of pigment cell differentiation ISO
 cellular_componentGO:0030133 transport vesicle ISS
 cellular_componentGO:0031083 BLOC-1 complex ISS
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


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: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

Allelic Composition: Bloc1s5mu-Btlr/Bloc1s5mu-Btlr
Genetic Background: C57BL/6J-Bloc1s5mu-Btlr

 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: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

 MP:0001522 impaired swimming "reduced ability or inability to swim" [J:45446, J:39081]
Show

Allelic Composition: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

 MP:0002894 abnormal otoliths "malformed crystalline calciferous particles adhering to the otolithic membrane" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

 MP:0002963 decreased protein excretion "less than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

 MP:0002978 absent otoliths "absence of the crystalline calciferous particles adhering to the otolithic membrane" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

 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: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

 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: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

 MP:0004721 abnormal platelet dense granule morphology "any structural anomaly of the electron-dense bodies occurring in blood platelets that store and secrete adenosine nucleotides and serotonin" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

Allelic Composition: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

 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: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

Allelic Composition: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

Allelic Composition: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

 MP:0004812 abnormal linear vestibular evoked potential "anomaly in the biphasic response elicited by linear acceleration transients (usually jerk pulses to an animal s head); normally, this response is measured by electrophysiological activity of the peripheral vestibular nerve; this assesses the function of the gravity receptor system including the utricles and saccules of the inner ear" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

 MP:0005059 lysosomal protein accumulation "buildup of protein in the lysosome" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

 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: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

Allelic Composition: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

 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: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

 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: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

Allelic Composition: Bloc1s5mu-Btlr/Bloc1s5mu-Btlr
Genetic Background: C57BL/6J-Bloc1s5mu-Btlr

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

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

Allelic Composition: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

 MP:0005464 abnormal platelet physiology "atypical response of the non-nucleated cells found in the blood and involved in blood coagulation" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

 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: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

Allelic Composition: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

 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: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

 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: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

 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: Myo7ash1-9J/Myo7ash1-9J
Genetic Background: involves: C3.MRL-Faslpr/J

Allelic Composition: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

 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: Bloc1s5mu/Bloc1s5mu
Genetic Background: CHMU/Le

  


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