ENSMUSG00000005804


Mus musculus

Features
Gene ID: ENSMUSG00000005804
  
Biological name :Bloc1s6
  
Synonyms : Biosis of lysosome-related organelles complex 1 subunit 6 / Bloc1s6 / Q9R0C0
  
Possible biological names infered from orthology : biogenesis of lysosomal organelles complex 1 subunit 6 / Q9UL45
  
Species: Mus musculus
  
Chr. number: 2
Strand: 1
Band: E5
Gene start: 122738503
Gene end: 122749475
  
Corresponding Affymetrix probe sets: 10475525 (MoGene1.0st)   1417349_at (Mouse Genome 430 2.0 Array)   1417350_at (Mouse Genome 430 2.0 Array)   1457088_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000005954
NCBI entrez gene - 18457     See in Manteia.
MGI - MGI:1927580
RefSeq - NM_019788
RefSeq Peptide - NP_062762
swissprot - Q9R0C0
Ensembl - ENSMUSG00000005804
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bloc1s6ENSDARG00000042933Danio rerio
 BLOC1S6ENSGALG00000040735Gallus gallus
 Q9UL45ENSG00000104164Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR017242  BLOC-1 complex, pallidin subunit
 IPR028119  Snapin/Pallidin/Snn1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006904 vesicle docking involved in exocytosis TAS
 biological_processGO:0006906 vesicle fusion TAS
 biological_processGO:0007596 blood coagulation IMP
 biological_processGO:0008089 anterograde axonal transport IMP
 biological_processGO:0030318 melanocyte differentiation IMP
 biological_processGO:0031175 neuron projection development IMP
 biological_processGO:0032402 melanosome transport ISS
 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:0043473 pigmentation IMP
 biological_processGO:0048490 anterograde synaptic vesicle transport IMP
 biological_processGO:0050942 positive regulation of pigment cell differentiation ISO
 biological_processGO:0061025 membrane fusion IPI
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005768 endosome IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0019898 extrinsic component of membrane IBA
 cellular_componentGO:0030133 transport vesicle IBA
 cellular_componentGO:0031083 BLOC-1 complex ISS
 cellular_componentGO:0031201 SNARE complex ISS
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042802 identical protein binding ISO
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0051015 actin filament binding ISS


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000162 lordosis "anteriorly convex curvature of the spine, "saddle back" " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62022]
Show

Allelic Composition: Lhx2tm1.1Lcar/Lhx2tm1.1Lcar,Tg(Lhx2-cre)1Lcar/0
Genetic Background: involves: 129P2/OlaHsd

 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: Wnt3atm1Amc/Wnt3atm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

Allelic Composition: Hps1ep/Hps1ep,Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6 Hps1ep

 MP:0000410 waved hair "hair or fur having undulations or a sinusoidal shape" [J:47620]
Show

Allelic Composition: Lhx2tm1.1Lcar/Lhx2tm1.1Lcar,Tg(Lhx2-cre)1Lcar/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0001175 abnormal lung morphology "malformed organ of respiration" [J:35802]
Show

Allelic Composition: Wnt3atm1Amc/Wnt3atm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001177 atelectasis "collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa,Tgm3we/Tgm3we-Bkr
Genetic Background: involves: 129 * C57BL/10 * UW

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
Show

Allelic Composition: Wnt3atm1Amc/Wnt3atm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Wnt3atm1Amc/Wnt3atm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Lhx2tm1.1Lcar/Lhx2tm1.1Lcar,Tg(Lhx2-cre)1Lcar/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0001510 abnormal coat appearance "coat that looks different from the usual state " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Lhx2tm1.1Lcar/Lhx2tm1.1Lcar,Tg(Lhx2-cre)1Lcar/0
Genetic Background: involves: 129P2/OlaHsd

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

Allelic Composition: Wnt3atm1Amc/Wnt3atm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

 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: Wnt3atm1Amc/Wnt3atm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001533 abnormal skeleton physiology "anomalous function of the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Lhx2tm1.1Lcar/Lhx2tm1.1Lcar,Tg(Lhx2-cre)1Lcar/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0001613 abnormal vasodilation "anomalous widening of the lumen of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: F11tm1Gjb/F11tm1Gjb
Genetic Background: B6.129X1-F11tm1Gjb

 MP:0001760 abnormal urine enzyme level "any change in the level of excretion of enzymes in the urine" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0001861 lung inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the lung" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0001942 abnormal lung volume "anomaly in the amount of air that the lungs contain at various points of the respiratory cycle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0001958 emphysema "lung disease characterized by increased size of terminal bronchioles with destructive changes in their walls and reduction in number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33629]
Show

Allelic Composition: Wnt3atm1Amc/Wnt3atm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Wnt3atm1Amc/Wnt3atm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Lhx2tm1.1Lcar/Lhx2tm1.1Lcar,Tg(Lhx2-cre)1Lcar/0
Genetic Background: involves: 129P2/OlaHsd

 MP:0002133 abnormal respiratory system physiology "anomalous function of the pulmonary system; inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Wnt3atm1Amc/Wnt3atm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

 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: Wnt3atm1Amc/Wnt3atm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0002270 abnormal alveoli morphology "any structural anomaly of the outpouching of the respiratory system where gas exchange occurs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0002276 abnormal lung interstitium morphology "any structural anomaly of the lung tissue, but not including the conducting airways (bronchi, bronchioles, alveoli) " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0002314 abnormal respiratory mechanics "anomaly in the action of the lungs, diaphragm, ribs and chest wall during respiration" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0002826 tonic seizures "increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity" [hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/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: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa,Tgm3we/Tgm3we-Bkr
Genetic Background: involves: 129 * C57BL/10 * UW

 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: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0003641 small lung "reduced size of the lung relative to normal" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95332]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa,Tgm3we/Tgm3we-Bkr
Genetic Background: involves: 129 * C57BL/10 * UW

 MP:0003718 maternal effect "expression of a phenotypic trait in an female animal s offspring that is dependent on the maternal genotype" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Edaraddcr/Edaraddcr
Genetic Background: involves: C57BL/6J

 MP:0003828 pulmonary edema "an accumulation of an excessive amount of watery fluid in the lung " [J:44108, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0004003 abnormal vascular endothelial cell physiology "anomaly in the function of the cells that line the vasculature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: F11tm1Gjb/F11tm1Gjb
Genetic Background: B6.129X1-F11tm1Gjb

 MP:0004703 abnormal vertebral column "any structural anomaly of the complete structure forming the rostral-caudal axis of the skeleton formed from the alternating segments of vertebra and intervertebral discs which support the spinal cord" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa,Tgm3we/Tgm3we-Bkr
Genetic Background: involves: 129 * C57BL/10 * UW

 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: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 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: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/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: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 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: Wnt3atm1Amc/Wnt3atm1Amc
Genetic Background: involves: 129S1/Sv * C57BL/6J

 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: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 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]
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Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/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: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0006159 ocular albinism "absence of melanin production in the eye only" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0006298 abnormal platelet activation "anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug" [GO:0030168, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 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"]
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Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0009549 impaired platelet aggregation "decrease in the ability of one platelet to one or more other platelets via adhesion molecules" [GO:0070527]
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Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0009557 decreased platelet ADP level "reduced concentration of the major energy source adenosine diphosphate produced by dense bodies located in platelets" [MGI:mberry "Melissa Berry, Genetics Resources Curator"]
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Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0009642 abnormal blood homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0010099 abnormal thoracic cage shape "anomaly in the overall regular dome shape of the ribcage" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bloc1s6pa/Bloc1s6pa,Tgm3we/Tgm3we-Bkr
Genetic Background: involves: 129 * C57BL/10 * UW

 MP:0010192 abnormal retinal melanin granule morphology "any structural anomaly of the pigment particles in the retina" [ISBN-13:978-1-4051-2034-0 "The Pigmentary System, Second Edition"]
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Allelic Composition: a/a,Myo5ad/Myo5ad
Genetic Background: involves: DBA/2J

 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]
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Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0010898 abnormal pulmonary alveolus epithelium morphology "any structural anomaly of the epithelial layer of the alveoli" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

 MP:0011400 complete lethality "all individuals of a given genotype in a population die before the end of the normal lifespan but time(s) of death are unspecified" [MGI:llw2]
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Allelic Composition: Bloc1s6pa/Bloc1s6pa,Tgm3we/Tgm3we-Bkr
Genetic Background: involves: 129 * C57BL/10 * UW

 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: Bloc1s6pa/Bloc1s6pa
Genetic Background: B6.Cg-Bloc1s6pa/J

  


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






 

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