ENSMUSG00000057280


Mus musculus

Features
Gene ID: ENSMUSG00000057280
  
Biological name :Musk
  
Synonyms : Muscle, skeletal receptor tyrosine-protein kinase / Musk / Q61006
  
Possible biological names infered from orthology : muscle associated receptor tyrosine kinase / O15146
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: B3
Gene start: 58285960
Gene end: 58374303
  
Corresponding Affymetrix probe sets: 10505145 (MoGene1.0st)   1450511_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000137453
Ensembl peptide - ENSMUSP00000099957
Ensembl peptide - ENSMUSP00000136696
Ensembl peptide - ENSMUSP00000080590
Ensembl peptide - ENSMUSP00000081625
Ensembl peptide - ENSMUSP00000095665
Ensembl peptide - ENSMUSP00000095667
NCBI entrez gene - 18198     See in Manteia.
MGI - MGI:103581
RefSeq - XM_006537661
RefSeq - NM_001037127
RefSeq - NM_001037128
RefSeq - NM_001037129
RefSeq - NM_001037130
RefSeq - NM_001165996
RefSeq - NM_010944
RefSeq - XM_006537659
RefSeq Peptide - NP_001032205
RefSeq Peptide - NP_001032206
RefSeq Peptide - NP_035074
RefSeq Peptide - NP_001032207
RefSeq Peptide - NP_001159468
RefSeq Peptide - NP_001032204
swissprot - Q32S50
swissprot - Q61006
swissprot - Q497X0
swissprot - E9PVV8
swissprot - J3QPS3
swissprot - K3W4P7
swissprot - F6WVU1
swissprot - Q32S49
Ensembl - ENSMUSG00000057280
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 muskENSDARG00000098764Danio rerio
 MUSKENSGALG00000015728Gallus gallus
 MUSKENSG00000030304Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ntrk3 / Q6VNS1 / NT-3 growth factor receptor / Q16288* / neurotrophic receptor tyrosine kinase 3*ENSMUSG0000005914625
Ntrk2 / P15209 / BDNF/NT-3 growth factors receptor / Q16620* / neurotrophic receptor tyrosine kinase 2*ENSMUSG0000005525425
Ntrk1 / Q3UFB7 / High affinity nerve growth factor receptor / P04629* / neurotrophic receptor tyrosine kinase 1*ENSMUSG0000002807224
Insr / P15208 / Insulin receptor Insulin receptor subunit alpha Insulin receptor subunit beta / P06213* / insulin receptor*ENSMUSG0000000553423
Ror1 / Q9Z139 / Inactive tyrosine-protein kinase transmembrane receptor ROR1 / Q01973* / receptor tyrosine kinase like orphan receptor 1*ENSMUSG0000003530522
Igf1r / insulin like growth factor 1 receptor / P08069*ENSMUSG0000000553322
Insrr / Q9WTL4 / Insulin receptor-related protein Insulin receptor-related protein alpha chain Insulin receptor-related protein beta chain / P14616* / insulin receptor related receptor*ENSMUSG0000000564021
Ddr2 / Q62371 / Discoidin domain-containing receptor 2 / Q16832* / discoidin domain receptor tyrosine kinase 2*ENSMUSG0000002667421
Ror2 / Q9Z138 / receptor tyrosine kinase-like orphan receptor 2 / Q01974*ENSMUSG0000002146420
Ddr1 / Q03146 / Epithelial discoidin domain-containing receptor 1 / Q08345* / discoidin domain receptor tyrosine kinase 1*ENSMUSG0000000353420
Ros1 / Q78DX7 / Proto-onco tyrosine-protein kinase ROS / P08922* / ROS proto-oncogene 1, receptor tyrosine kinase*ENSMUSG0000001989320
Alk / P97793 / ALK tyrosine kinase receptor / Q9UM73* / ALK receptor tyrosine kinase*ENSMUSG0000005547119
Ptk7 / Q8BKG3 / Inactive tyrosine-protein kinase 7 / Q13308* / protein tyrosine kinase 7 (inactive)*ENSMUSG0000002397217
Ltk / P08923 / Leukocyte tyrosine kinase receptor / P29376* / leukocyte receptor tyrosine kinase*ENSMUSG0000002729716


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001245  Serine-threonine/tyrosine-protein kinase, catalytic domain
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR008266  Tyrosine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR013098  Immunoglobulin I-set
 IPR013783  Immunoglobulin-like fold
 IPR017441  Protein kinase, ATP binding site
 IPR020067  Frizzled domain
 IPR020635  Tyrosine-protein kinase, catalytic domain
 IPR036179  Immunoglobulin-like domain superfamily
 IPR036790  Frizzled cysteine-rich domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001934 positive regulation of protein phosphorylation IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IMP
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007528 neuromuscular junction development IEA
 biological_processGO:0008582 regulation of synaptic growth at neuromuscular junction IMP
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0043113 receptor clustering IMP
 biological_processGO:0043525 positive regulation of neuron apoptotic process IMP
 biological_processGO:0071340 skeletal muscle acetylcholine-gated channel clustering IMP
 biological_processGO:1904395 positive regulation of skeletal muscle acetylcholine-gated channel clustering IMP
 biological_processGO:2000541 positive regulation of protein geranylgeranylation IMP
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031594 neuromuscular junction IDA
 cellular_componentGO:0043235 receptor complex IEA
 cellular_componentGO:0045202 synapse IDA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity IEA
 molecular_functionGO:0004714 transmembrane receptor protein tyrosine kinase activity TAS
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0030165 PDZ domain binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Nos1tm2Plh/Nos1tm2Plh
Genetic Background: Not Specified

Allelic Composition: Musktm1Vwi/Musktm1.1Vwi,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6J * FVB

Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Nos1tm2Plh/Nos1tm2Plh
Genetic Background: Not Specified

Allelic Composition: Musktm1Vwi/Musktm1.1Vwi,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6J * FVB

Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
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Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

 MP:0000761 thin diaphragm muscle "reduced thickness of the diaphragm muscle" [MGI:CLS, J:60159]
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Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

 MP:0000940 abnormal motor neuron innervation "misprojection or failure to bundle motor axons to an effector tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: KitSsm/Kit+
Genetic Background: involves: C57BL/10 * Non-inbred

 MP:0001052 abnormal muscle innervation "malfomation or misprojection of sensory or motor nerves to targets in muscle" [J:75958]
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Allelic Composition: KitSsm/Kit+
Genetic Background: involves: C57BL/10 * Non-inbred

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
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Allelic Composition: KitSsm/Kit+
Genetic Background: involves: C57BL/10 * Non-inbred

Allelic Composition: Musktm1Vwi/Musktm1Vwi,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6J * FVB

Allelic Composition: Musktm1Vwi/Musktm1.1Vwi,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6J * FVB

Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

 MP:0001054 failure of presynaptic differentiation "inability of nerve terminals to find target and/or form terminal arbors for synaptic transmission" [J:61509]
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Allelic Composition: KitSsm/Kit+
Genetic Background: involves: C57BL/10 * Non-inbred

 MP:0001055 failure of postsynaptic differentiation "inability of an effector cell to form a differentiated postsynaptic membrane in response to innervation" [J:61509]
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Allelic Composition: KitSsm/Kit+
Genetic Background: involves: C57BL/10 * Non-inbred

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Nos1tm2Plh/Nos1tm2Plh
Genetic Background: Not Specified

Allelic Composition: Musktm1Vwi/Musktm1.1Vwi,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6J * FVB

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Ildr1tm1.1Lwa/Ildr1tm1.1Lwa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001404 no spontaneous movement "failure to make any change in position or posture" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: KitSsm/Kit+
Genetic Background: involves: C57BL/10 * Non-inbred

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

 MP:0001491 unresponsive to tactile stimuli "absence of reflex action normally induced by touch or pain" [J:43515, J:47439]
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Allelic Composition: KitSsm/Kit+
Genetic Background: involves: C57BL/10 * Non-inbred

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
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Allelic Composition: KitSsm/Kit+
Genetic Background: involves: C57BL/10 * Non-inbred

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: KitSsm/Kit+
Genetic Background: involves: C57BL/10 * Non-inbred

Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ildr1tm1.1Lwa/Ildr1tm1.1Lwa
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nos1tm2Plh/Nos1tm2Plh
Genetic Background: Not Specified

Allelic Composition: Musktm1Vwi/Musktm1.1Vwi,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6J * FVB

Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

 MP:0002184 abnormal innervation "the malformation, misprojection or malfunction of the connection of nerve fibers with a target" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

 MP:0002914 abnormal endplate potential activity "defect in the excitatory response of peripheral synapses to stimulation; these amplitudes are larger than central synapse potentials" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

 MP:0003646 muscle fatigue "increased muscle exhaustion or increased susceptibility to muscle exhaustion" [J:96306]
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Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

 MP:0003651 abnormal axon outgrowth "defect/abnormality in the ability of an axon to extend from a neuron cell body" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:96121]
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Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

 MP:0004145 abnormal muscle electrophysiology "anomaly in the function of the musculature as it relates to electrical phenomena" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

 MP:0004174 abnormal spine curvature "deviation from the typical S-shape of the spine" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

 MP:0004835 abnormal miniature endplate potential "defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

 MP:0008415 abnormal neurite morphology "any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture" [PMID:12951572]
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Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Musktm1Vwi/Musktm1Vwi,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6J * FVB

Allelic Composition: Musktm1Vwi/Musktm1.1Vwi,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6J * FVB

Allelic Composition: Musktm1.1Vwi/Musktm2Vwi
Genetic Background: Not Specified

Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: KitSsm/Kit+
Genetic Background: involves: C57BL/10 * Non-inbred

Allelic Composition: Musktm1.1Vwi/Musktm1.1Vwi
Genetic Background: involves: C57BL/6J

 MP:0012055 abnormal phrenic nerve innervation pattern to diaphragm "any changes in the placement, morphology or number of the portion of phrenic nerve fibers providing motor supply to the diaphragm" [MGI:csmith]
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Allelic Composition: Musktm1Vwi/Musktm1Vwi,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6J * FVB

Allelic Composition: Musktm1Vwi/Musktm1.1Vwi,Tg(Ckmm-cre)5Khn/0
Genetic Background: involves: C57BL/6J * FVB

Allelic Composition: Musktm1.2Ics/Musktm1.2Ics
Genetic Background: involves: BALB/cN * C57BL/6NTac

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000057280 Musk / Q61006 / Muscle, skeletal receptor tyrosine-protein kinase / O15146* / muscle associated receptor tyrosine kinase*  / complex






 

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