Cell atlas - MUSK - The Human Protein Atlas

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MUSK

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	MUSK
Gene description	Muscle, skeletal, receptor tyrosine kinase
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	5
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Group enriched (RH-30, LHCN-M2)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Group enriched (RH-30, LHCN-M2) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	MUSK
Synonyms
Description	Muscle, skeletal, receptor tyrosine kinase (HGNC Symbol)
Entrez gene summary	This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
Chromosome	9
Cytoband	q31.3
Chromosome location (bp)	110668771 - 110801620
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000030304 (version 83.38)
Entrez gene	4593
UniProt	O15146 (UniProt - Evidence at protein level)
neXtProt	NX_O15146
Antibodypedia	MUSK antibodies

PROTEIN BROWSER

MUSK-001	MUSK-002	MUSK-003	MUSK-006	MUSK-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MUSK-001 ENSP00000363571 ENST00000374448	O15146 [Direct mapping] Muscle, skeletal receptor tyrosine-protein kinase Show all	Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0001934 [positive regulation of protein phosphorylation] GO:0004672 [protein kinase activity] GO:0004713 [protein tyrosine kinase activity] GO:0004714 [transmembrane receptor protein tyrosine kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006355 [regulation of transcription, DNA-templated] GO:0006468 [protein phosphorylation] GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007275 [multicellular organismal development] GO:0007528 [neuromuscular junction development] GO:0007613 [memory] GO:0008582 [regulation of synaptic growth at neuromuscular junction] GO:0010628 [positive regulation of gene expression] GO:0016020 [membrane] GO:0018108 [peptidyl-tyrosine phosphorylation] GO:0030054 [cell junction] GO:0030154 [cell differentiation] GO:0030198 [extracellular matrix organization] GO:0031594 [neuromuscular junction] GO:0043113 [receptor clustering] GO:0043235 [receptor complex] GO:0043525 [positive regulation of neuron apoptotic process] GO:0045202 [synapse] GO:0045211 [postsynaptic membrane] GO:0046777 [protein autophosphorylation] GO:0046872 [metal ion binding] GO:0071340 [skeletal muscle acetylcholine-gated channel clustering] GO:2000541 [positive regulation of protein geranylgeranylation] Show all	869 aa 97.1 kDa	Yes	1
MUSK-002 ENSP00000393608 ENST00000416899	A0A087WSY1 [Direct mapping] Receptor protein-tyrosine kinase Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Show all	GO:0004672 [protein kinase activity] GO:0004713 [protein tyrosine kinase activity] GO:0004714 [transmembrane receptor protein tyrosine kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0006468 [protein phosphorylation] GO:0016021 [integral component of membrane] GO:0018108 [peptidyl-tyrosine phosphorylation] Show all	861 aa 96 kDa	Yes	1
MUSK-003 ENSP00000363562 ENST00000374439	F6XAJ2 [Direct mapping] Muscle, skeletal receptor tyrosine-protein kinase Show all	Predicted intracellular proteins Show all	GO:0005515 [protein binding] Show all	132 aa 14.1 kDa	No	0
MUSK-006 ENSP00000189978 ENST00000189978	O15146 [Direct mapping] Muscle, skeletal receptor tyrosine-protein kinase Show all	Enzymes ENZYME proteins Transferases Kinases Tyr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0001934 [positive regulation of protein phosphorylation] GO:0004672 [protein kinase activity] GO:0004713 [protein tyrosine kinase activity] GO:0004714 [transmembrane receptor protein tyrosine kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005887 [integral component of plasma membrane] GO:0006468 [protein phosphorylation] GO:0007169 [transmembrane receptor protein tyrosine kinase signaling pathway] GO:0007275 [multicellular organismal development] GO:0007528 [neuromuscular junction development] GO:0007613 [memory] GO:0008582 [regulation of synaptic growth at neuromuscular junction] GO:0010628 [positive regulation of gene expression] GO:0018108 [peptidyl-tyrosine phosphorylation] GO:0030054 [cell junction] GO:0030154 [cell differentiation] GO:0030198 [extracellular matrix organization] GO:0031594 [neuromuscular junction] GO:0043235 [receptor complex] GO:0045211 [postsynaptic membrane] GO:0046777 [protein autophosphorylation] GO:0046872 [metal ion binding] GO:0071340 [skeletal muscle acetylcholine-gated channel clustering] GO:2000541 [positive regulation of protein geranylgeranylation] Show all	783 aa 87.6 kDa	Yes	1
MUSK-201 ENSP00000363563 ENST00000374440	Q5T0B5 [Direct mapping] Receptor protein-tyrosine kinase Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Show all	GO:0004672 [protein kinase activity] GO:0004713 [protein tyrosine kinase activity] GO:0004714 [transmembrane receptor protein tyrosine kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0006468 [protein phosphorylation] GO:0016021 [integral component of membrane] GO:0018108 [peptidyl-tyrosine phosphorylation] Show all	783 aa 87.5 kDa	Yes	1

Contact

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.