Descriptions

Muscle, skeletal receptor tyrosine-protein kinase (MuSK) RTK(receptor tyrosine kinase) that is expressed exclusively in muscle cells, and is essential for the formation of neuromuscular synapses because of its key role in clustering acetylcholine receptors. Mutation of the MUSK juxtamembrane Tyr residue results in the loss of ligand (agrin)-stimulated receptor autophosphorylation in muscle cells. However, the soluble cytoplasmic domain of MUSK bearing a Tyr553Phe substitution undergoes activation-segment autophosphorylation and kinase activation in vitro. MUSK is subject to strong activation-segment autoinhibition.

Autoinhibitory domains (AIDs)

Target domain

574-855 (Protein kinase domain)

Relief mechanism

PTM

Assay

Target domain

574-855 (Protein kinase domain)

Relief mechanism

Others

Assay

Accessory elements

741-766 (Activation loop from InterPro)

Target domain

574-855 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

2 structures for Q61006

Entry ID Method Resolution Chain Position Source
3ML4 X-ray 260 A E/F/G/H 544-556 PDB
AF-Q61006-F1 Predicted AlphaFoldDB

40 variants for Q61006

Variant ID(s) Position Change Description Diseaes Association Provenance
rs3388687391 76 S>N No EVA
rs3388686490 84 L>I No EVA
rs3394045427 182 K>N No EVA
rs3394216720 200 Y>C No EVA
rs3394349791 200 Y>N No EVA
rs3393781846 201 S>P No EVA
rs3388685742 215 L>P No EVA
rs3388681829 230 T>N No EVA
rs3388674723 291 K>* No EVA
rs3388686443 297 A>S No EVA
rs3388687404 298 A>T No EVA
rs3388690823 299 A>S No EVA
rs3388665803 303 I>K No EVA
rs3388686531 321 R>S No EVA
rs6343578 342 R>P No EVA
rs581725466 345 E>K No EVA
rs3388674154 349 E>K No EVA
rs6344646 393 I>V No EVA
rs3388678874 413 M>I No EVA
rs3388674744 421 L>I No EVA
rs3388686492 428 L>F No EVA
rs3388688021 447 C>Y No EVA
rs3388686502 449 R>S No EVA
rs3388690271 461 T>K No EVA
rs3388690853 493 M>K No EVA
rs3388687455 511 I>V No EVA
rs3394028792 517 C>NRE* No EVA
rs3388687410 537 T>K No EVA
rs3388678830 608 K>R No EVA
rs3388685289 638 V>M No EVA
rs3388688000 655 E>D No EVA
rs27882805 688 V>M No EVA
rs3388678855 733 G>E No EVA
rs3394289242 768 M>I No EVA
rs3388678859 789 V>E No EVA
rs3388683435 801 P>S No EVA
rs3388686442 805 M>V No EVA
rs3388674779 853 R>K No EVA
rs3388674779 853 R>M No EVA
rs237841435 865 T>A No EVA

No associated diseases with Q61006

10 regional properties for Q61006

Type Name Position InterPro Accession
domain SNF2, N-terminal 190 - 469 IPR000330
domain SANT/Myb domain 848 - 897 IPR001005-1
domain SANT/Myb domain 950 - 1014 IPR001005-2
domain Helicase, C-terminal domain-like 491 - 645 IPR001650
domain Helicase superfamily 1/2, ATP-binding domain 183 - 375 IPR014001
domain ISWI, HAND domain 750 - 848 IPR015194
domain SLIDE domain 905 - 1018 IPR015195
domain SANT domain 847 - 899 IPR017884
domain SMARCA1, N-terminal 172 - 404 IPR044755
domain SNF2/RAD5-like, C-terminal helicase domain 483 - 615 IPR049730

Functions

Description
EC Number 2.7.10.1 Protein-tyrosine kinases
Subcellular Localization
  • Postsynaptic cell membrane ; Single-pass type I membrane protein
  • Localizes to the postsynaptic cell membrane of the neuromuscular junction
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon.
external side of plasma membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
neuromuscular junction The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic membrane A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

7 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
metal ion binding Binding to a metal ion.
PDZ domain binding Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein tyrosine kinase activity Catalysis of the reaction
transmembrane receptor protein tyrosine kinase activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction
Wnt-protein binding Binding to a Wnt-protein, a secreted growth factor involved in signaling.

24 GO annotations of biological process

Name Definition
cell differentiation The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
enzyme-linked receptor protein signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell, where the receptor possesses catalytic activity or is closely associated with an enzyme such as a protein kinase, and ending with the regulation of a downstream cellular process, e.g. transcription.
long-term synaptic potentiation A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse.
memory The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).
motor neuron apoptotic process Any apoptotic process in a motor neuron, an efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement.
negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
neuromuscular junction development A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction.
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of motor neuron apoptotic process Any process that activates or increases the frequency, rate or extent of motor neuron apoptotic process.
positive regulation of neuron projection development Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of peptidyl-tyrosine phosphorylation Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
positive regulation of protein geranylgeranylation Any process that activates or increases the frequency, rate or extent of protein geranylgeranylation.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of Rac protein signal transduction Any process that activates or increases the frequency, rate or extent of Rac protein signal transduction.
positive regulation of skeletal muscle acetylcholine-gated channel clustering Any process that activates or increases the frequency, rate or extent of skeletal muscle acetylcholine-gated channel clustering.
positive regulation of synaptic assembly at neuromuscular junction Any process that activates or increases the frequency, rate or extent of synaptic assembly at neuromuscular junction.
positive regulation of synaptic transmission, cholinergic Any process that activates, maintains or increases the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine.
receptor clustering The receptor metabolic process that results in grouping of a set of receptors at a cellular location, often to amplify the sensitivity of a signaling response.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of synaptic assembly at neuromuscular junction Any process that modulates the frequency, rate or extent of synaptic assembly at neuromuscular junctions.
response to electrical stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electrical stimulus.
skeletal muscle acetylcholine-gated channel clustering The accumulation of acetylcholine-gated cation channels in a narrow, central region of muscle fibers, in apposition to nerve terminals.
transmembrane receptor protein tyrosine kinase signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

76 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q91044 NTRK3 NT-3 growth factor receptor Gallus gallus (Chicken) SS
Q91987 NTRK2 BDNF/NT-3 growth factors receptor Gallus gallus (Chicken) SS
Q91009 NTRK1 High affinity nerve growth factor receptor Gallus gallus (Chicken) SS
Q8AXY6 MUSK Muscle, skeletal receptor tyrosine protein kinase Gallus gallus (Chicken) SS
Q5IS37 NTRK3 NT-3 growth factor receptor Pan troglodytes (Chimpanzee) SS
Q24488 Ror Tyrosine-protein kinase transmembrane receptor Ror Drosophila melanogaster (Fruit fly) SS
Q9V6K3 Nrk Tyrosine-protein kinase transmembrane receptor Ror2 Drosophila melanogaster (Fruit fly) SS
P04629 NTRK1 High affinity nerve growth factor receptor Homo sapiens (Human) EV
Q01973 ROR1 Inactive tyrosine-protein kinase transmembrane receptor ROR1 Homo sapiens (Human) PR
Q01974 ROR2 Tyrosine-protein kinase transmembrane receptor ROR2 Homo sapiens (Human) EV
Q16288 NTRK3 NT-3 growth factor receptor Homo sapiens (Human) SS
Q16620 NTRK2 BDNF/NT-3 growth factors receptor Homo sapiens (Human) EV
O15146 MUSK Muscle, skeletal receptor tyrosine-protein kinase Homo sapiens (Human) EV
P35546 Ret Proto-oncogene tyrosine-protein kinase receptor Ret Mus musculus (Mouse) SS
Q9Z138 Ror2 Tyrosine-protein kinase transmembrane receptor ROR2 Mus musculus (Mouse) SS
Q9Z139 Ror1 Inactive tyrosine-protein kinase transmembrane receptor ROR1 Mus musculus (Mouse) PR
Q62371 Ddr2 Discoidin domain-containing receptor 2 Mus musculus (Mouse) SS
Q03146 Ddr1 Epithelial discoidin domain-containing receptor 1 Mus musculus (Mouse) SS
P15209 Ntrk2 BDNF/NT-3 growth factors receptor Mus musculus (Mouse) SS
Q3UFB7 Ntrk1 High affinity nerve growth factor receptor Mus musculus (Mouse) SS
Q6VNS1 Ntrk3 NT-3 growth factor receptor Mus musculus (Mouse) SS
P35917 Flt4 Vascular endothelial growth factor receptor 3 Mus musculus (Mouse) SS
P35969 Flt1 Vascular endothelial growth factor receptor 1 Mus musculus (Mouse) SS
P35918 Kdr Vascular endothelial growth factor receptor 2 Mus musculus (Mouse) PR
Q03145 Epha2 Ephrin type-A receptor 2 Mus musculus (Mouse) PR
Q60750 Epha1 Ephrin type-A receptor 1 Mus musculus (Mouse) SS
P54761 Ephb4 Ephrin type-B receptor 4 Mus musculus (Mouse) PR
Q60629 Epha5 Ephrin type-A receptor 5 Mus musculus (Mouse) SS
P97793 Alk ALK tyrosine kinase receptor Mus musculus (Mouse) SS
Q9WTL4 Insrr Insulin receptor-related protein Mus musculus (Mouse) SS
Q60751 Igf1r Insulin-like growth factor 1 receptor Mus musculus (Mouse) SS
P15208 Insr Insulin receptor Mus musculus (Mouse) SS
P16092 Fgfr1 Fibroblast growth factor receptor 1 Mus musculus (Mouse) SS
P21803 Fgfr2 Fibroblast growth factor receptor 2 Mus musculus (Mouse) SS
Q03142 Fgfr4 Fibroblast growth factor receptor 4 Mus musculus (Mouse) PR
Q60805 Mertk Tyrosine-protein kinase Mer Mus musculus (Mouse) SS
Q62190 Mst1r Macrophage-stimulating protein receptor Mus musculus (Mouse) SS
Q00993 Axl Tyrosine-protein kinase receptor UFO Mus musculus (Mouse) PR
P55144 Tyro3 Tyrosine-protein kinase receptor TYRO3 Mus musculus (Mouse) SS
P70424 Erbb2 Receptor tyrosine-protein kinase erbB-2 Mus musculus (Mouse) SS
Q61527 Erbb4 Receptor tyrosine-protein kinase erbB-4 Mus musculus (Mouse) SS
Q61526 Erbb3 Receptor tyrosine-protein kinase erbB-3 Mus musculus (Mouse) SS
Q01279 Egfr Epidermal growth factor receptor Mus musculus (Mouse) SS
Q01887 Ryk Tyrosine-protein kinase RYK Mus musculus (Mouse) PR
Q02858 Tek Angiopoietin-1 receptor Mus musculus (Mouse) SS
Q06806 Tie1 Tyrosine-protein kinase receptor Tie-1 Mus musculus (Mouse) SS
P05532 Kit Mast/stem cell growth factor receptor Kit Mus musculus (Mouse) PR
P05622 Pdgfrb Platelet-derived growth factor receptor beta Mus musculus (Mouse) SS
P09581 Csf1r Macrophage colony-stimulating factor 1 receptor Mus musculus (Mouse) SS
P26618 Pdgfra Platelet-derived growth factor receptor alpha Mus musculus (Mouse) SS
Q00342 Flt3 Receptor-type tyrosine-protein kinase FLT3 Mus musculus (Mouse) SS
P16056 Met Hepatocyte growth factor receptor Mus musculus (Mouse) PR
Q61851 Fgfr3 Fibroblast growth factor receptor 3 Mus musculus (Mouse) PR
P24786 NTRK3 NT-3 growth factor receptor Sus scrofa (Pig) SS
P35739 Ntrk1 High affinity nerve growth factor receptor Rattus norvegicus (Rat) SS
Q03351 Ntrk3 NT-3 growth factor receptor Rattus norvegicus (Rat) SS
Q63604 Ntrk2 BDNF/NT-3 growth factors receptor Rattus norvegicus (Rat) SS
Q62838 Musk Muscle, skeletal receptor tyrosine protein kinase Rattus norvegicus (Rat) SS
G5EGK5 cam-1 Tyrosine-protein kinase receptor cam-1 Caenorhabditis elegans SS
C0LGI2 At1g67720 Probable LRR receptor-like serine/threonine-protein kinase At1g67720 Arabidopsis thaliana (Mouse-ear cress) PR
P43298 TMK1 Receptor protein kinase TMK1 Arabidopsis thaliana (Mouse-ear cress) PR
Q8LPS5 SERK5 Somatic embryogenesis receptor kinase 5 Arabidopsis thaliana (Mouse-ear cress) PR
Q94C77 At4g34220 Receptor protein kinase-like protein At4g34220 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LRP3 At3g17420 Probable receptor-like protein kinase At3g17420 Arabidopsis thaliana (Mouse-ear cress) PR
O64556 At2g19230 Putative leucine-rich repeat receptor-like serine/threonine-protein kinase At2g19230 Arabidopsis thaliana (Mouse-ear cress) PR
Q6XAT2 ERL2 LRR receptor-like serine/threonine-protein kinase ERL2 Arabidopsis thaliana (Mouse-ear cress) PR
Q3E991 PRK6 Pollen receptor-like kinase 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q94AG2 SERK1 Somatic embryogenesis receptor kinase 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9XIC7 SERK2 Somatic embryogenesis receptor kinase 2 Arabidopsis thaliana (Mouse-ear cress) PR
C0LGJ1 At1g74360 Probable LRR receptor-like serine/threonine-protein kinase At1g74360 Arabidopsis thaliana (Mouse-ear cress) PR
Q93ZS4 NIK3 Protein NSP-INTERACTING KINASE 3 Arabidopsis thaliana (Mouse-ear cress) PR
C0LGQ4 MDIS2 Protein MALE DISCOVERER 2 Arabidopsis thaliana (Mouse-ear cress) PR
C0LGX1 At5g65240 Probable LRR receptor-like serine/threonine-protein kinase At5g65240 Arabidopsis thaliana (Mouse-ear cress) PR
Q0WR59 At5g10020 Probable inactive receptor kinase At5g10020 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LFG1 At3g53590 Putative leucine-rich repeat receptor-like serine/threonine-protein kinase At3g53590 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FXF2 RKF1 Probable LRR receptor-like serine/threonine-protein kinase RFK1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MRELVNIPLL QMLTLVAFSG TEKLPKAPVI TTPLETVDAL VEEVATFMCA VESYPQPEIS
70 80 90 100 110 120
WTRNKILIKL FDTRYSIREN GQLLTILSVE DSDDGIYCCI ANNGVGGAVE SCGALQVKMK
130 140 150 160 170 180
PKITRPPINV KIIEGLKAVL PCTTMGNPKP SVSWIKGDNA LRENSRIAVL ESGSLRIHNV
190 200 210 220 230 240
QKEDAGQYRC VAKNSLGTAY SKLVKLEVEV FARILRAPES HNVTFGSFVT LRCTAIGIPV
250 260 270 280 290 300
PTISWIENGN AVSSGSIQES VKDRVIDSRL QLFITKPGLY TCIATNKHGE KFSTAKAAAT
310 320 330 340 350 360
VSIAEWSKSQ KDSQGYCAQY RGEVCDAVLA KDALVFFNTS YRDPEDAQEL LIHTAWNELK
370 380 390 400 410 420
AVSPLCRPAA EALLCNHLFQ ECSPGVVPTP MPICREYCLA VKELFCAKEW QAMEGKAHRG
430 440 450 460 470 480
LYRSGMHLLP VPECSKLPSM HRDPTACTRL PYLDYKKENI TTFPSITSSR PSADIPNLPA
490 500 510 520 530 540
STSSFAVSPA YSMTVIISIV SSFALFALLT IATLYCCRRR KEWKNKKRES TAVTLTTLPS
550 560 570 580 590 600
ELLLDRLHPN PMYQRMPLLL NPKLLSLEYP RNNIEYVRDI GEGAFGRVFQ ARAPGLLPYE
610 620 630 640 650 660
PFTMVAVKML KEEASADMQA DFQREAALMA EFDNPNIVKL LGVCAVGKPM CLLFEYMAYG
670 680 690 700 710 720
DLNEFLRSMS PHTVCSLSHS DLSTRARVSS PGPPPLSCAE QLCIARQVAA GMAYLSERKF
730 740 750 760 770 780
VHRDLATRNC LVGETMVVKI ADFGLSRNIY SADYYKADGN DAIPIRWMPP ESIFYNRYTT
790 800 810 820 830 840
ESDVWAYGVV LWEIFSYGLQ PYYGMAHEEV IYYVRDGNIL ACPENCPLEL YNLMRLCWSK
850 860
LPADRPSFCS IHRILQRMCE RAEGTVGV