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

655-934 (Protein kinase domain)

Relief mechanism

PTM

Assay

Target domain

655-934 (Protein kinase domain)

Relief mechanism

Others

Assay

Accessory elements

820-845 (Activation loop from InterPro)

Target domain

655-934 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for Q8AXY6

Entry ID Method Resolution Chain Position Source
AF-Q8AXY6-F1 Predicted AlphaFoldDB

No variants for Q8AXY6

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for Q8AXY6

No associated diseases with Q8AXY6

2 regional properties for Q8AXY6

Type Name Position InterPro Accession
domain Zinc finger, RanBP2-type 296 - 325 IPR001876
domain SWIB/MDM2 domain 26 - 109 IPR003121

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

3 GO annotations of cellular component

Name Definition
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.

3 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
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.

5 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.
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 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).
regulation of synaptic assembly at neuromuscular junction Any process that modulates the frequency, rate or extent of synaptic assembly at neuromuscular junctions.
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.

53 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q91044 NTRK3 NT-3 growth factor receptor Gallus gallus (Chicken) SS
Q5F3X2 DDR1 receptor protein-tyrosine kinase Gallus gallus (Chicken) SS
Q91987 NTRK2 BDNF/NT-3 growth factors receptor Gallus gallus (Chicken) SS
Q8QHL3 FLT1 Vascular endothelial growth factor receptor 1 Gallus gallus (Chicken) SS
P21804 FGFR1 Fibroblast growth factor receptor 1 Gallus gallus (Chicken) SS
P18461 FGFR2 Fibroblast growth factor receptor 2 Gallus gallus (Chicken) SS
P18460 FGFR3 Fibroblast growth factor receptor 3 Gallus gallus (Chicken) SS
Q98949 TYRO3 Tyrosine-protein kinase receptor TYRO3 Gallus gallus (Chicken) PR
Q08156 KIT Mast/stem cell growth factor receptor Kit Gallus gallus (Chicken) SS
Q91009 NTRK1 High affinity nerve growth factor receptor Gallus gallus (Chicken) SS
Q07494 EPHB1 Ephrin type-B receptor 1 Gallus gallus (Chicken) SS
Q9PUF6 PDGFRA Platelet-derived growth factor receptor alpha 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
Q16620 NTRK2 BDNF/NT-3 growth factors receptor Homo sapiens (Human) EV
Q16288 NTRK3 NT-3 growth factor receptor Homo sapiens (Human) SS
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
P04629 NTRK1 High affinity nerve growth factor receptor Homo sapiens (Human) EV
O15146 MUSK Muscle, skeletal receptor tyrosine-protein kinase Homo sapiens (Human) EV
Q9Z138 Ror2 Tyrosine-protein kinase transmembrane receptor ROR2 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
Q9Z139 Ror1 Inactive tyrosine-protein kinase transmembrane receptor ROR1 Mus musculus (Mouse) PR
P15209 Ntrk2 BDNF/NT-3 growth factors receptor Mus musculus (Mouse) SS
Q61006 Musk Muscle, skeletal receptor tyrosine-protein kinase Mus musculus (Mouse) SS
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
O64770 At1g61490 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61490 Arabidopsis thaliana (Mouse-ear cress) SS
O64783 At1g61370 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61370 Arabidopsis thaliana (Mouse-ear cress) SS
O81833 SD11 G-type lectin S-receptor-like serine/threonine-protein kinase SD1-1 Arabidopsis thaliana (Mouse-ear cress) PR
Q8RWZ5 SD25 G-type lectin S-receptor-like serine/threonine-protein kinase SD2-5 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FNE1 CRK42 Cysteine-rich receptor-like protein kinase 42 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LPZ9 SD113 G-type lectin S-receptor-like serine/threonine-protein kinase SD1-13 Arabidopsis thaliana (Mouse-ear cress) SS
Q9SXB5 At1g11303 G-type lectin S-receptor-like serine/threonine-protein kinase At1g11303 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SYA0 At1g61500 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61500 Arabidopsis thaliana (Mouse-ear cress) SS
O64780 At1g61400 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61400 Arabidopsis thaliana (Mouse-ear cress) SS
O64776 At1g61440 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61440 Arabidopsis thaliana (Mouse-ear cress) SS
O64778 At1g61420 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61420 Arabidopsis thaliana (Mouse-ear cress) SS
Q9SY95 At1g61550 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61550 Arabidopsis thaliana (Mouse-ear cress) SS
O64774 At1g61460 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61460 Arabidopsis thaliana (Mouse-ear cress) PR
O64782 SD129 G-type lectin S-receptor-like serine/threonine-protein kinase SD1-29 Arabidopsis thaliana (Mouse-ear cress) SS
Q9SXB4 At1g11300 G-type lectin S-receptor-like serine/threonine-protein kinase At1g11300 Arabidopsis thaliana (Mouse-ear cress) PR
O64477 At2g19130 G-type lectin S-receptor-like serine/threonine-protein kinase At2g19130 Arabidopsis thaliana (Mouse-ear cress) SS
O64793 At1g67520 G-type lectin S-receptor-like serine/threonine-protein kinase At1g67520 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SXB8 At1g11330 G-type lectin S-receptor-like serine/threonine-protein kinase At1g11330 Arabidopsis thaliana (Mouse-ear cress) PR
O64784 At1g61360 G-type lectin S-receptor-like serine/threonine-protein kinase At1g61360 Arabidopsis thaliana (Mouse-ear cress) SS
Q39203 SD22 G-type lectin S-receptor-like serine/threonine-protein kinase SD2-2 Arabidopsis thaliana (Mouse-ear cress) SS
10 20 30 40 50 60
MRDLLVVPLG HVLTLAALSL AETLQKAPFI STPLETVDAL VEDVPKFVCV VESYPEPEIT
70 80 90 100 110 120
WTRNSIPIRL FDTRYSIQRN GQLLTILSVE DSDDGVYCCT ADNGVGAAAQ SCGALQVKMR
130 140 150 160 170 180
PKITRPPVNV EIIEGLKAVL PCTTMGNPKP SVSWIKGETV VKENARIAVL DSGNLRIHNV
190 200 210 220 230 240
QREDAGQYRC VAKNSLGSAY SKPATVVVEV FARILKAPES QNITFGSMVT LRCTAAGAPV
250 260 270 280 290 300
PTVTWLENGK AVSAGSIAES VKDRVVDSRL QVYVTRPGLF TCLATNKHSK TFGAAKAAAT
310 320 330 340 350 360
ISVSEWSKLY KGDAGYCSTY RGEVCSAILS RNALVFFNSS YADPEETQEL LVHTAWTELK
370 380 390 400 410 420
TVSSFCQPAA ESLLCNYIFQ ECKPSGVGPA PKPICRENCL AVKDLYCFKE WLSMEENSQR
430 440 450 460 470 480
GIYKPGLMLL ALPECNRLPS LHQDPSACTH IPFFDFKKEN ITRTCYSGNG QFYQGWANVT
490 500 510 520 530 540
ASGIPCQKWS DQAPHLHRRT PQVFPELSDA ENYCRNPGGE NERPWCYTKD PSVTWEYCSV
550 560 570 580 590 600
SPCGDASLSL GTRKPNGETQ NLPPPPSYSP TYSMNVIILI ISSFALIVIL GIITLVCCRR
610 620 630 640 650 660
RKQWKNKKRE SETPTLTTLP SELLLDRLHP NPMYQRMPLL LNPKLLSLEY PRNNIEYVRD
670 680 690 700 710 720
IGEGAFGRVF QARAPGLLPY EPFTMVAVKM LKEEASADMQ ADFQREAALM AEFDNPNIVK
730 740 750 760 770 780
LLGVCAVGKP MCLLFEYMAY GDLNEYLRDR SPRNLCSLVQ GGLEARACLL NPLALCCTSQ
790 800 810 820 830 840
LCIAKQVAAG MAYLSERKFV HRDLATRNCL VGENMVVKIA DFGLSRNMYS ADYYKANEND
850 860 870 880 890 900
AIPIRWMPPE SIFYNRYTTE SDVWAYGVVL WEIFSYGMQP YYGMAHEEVI YYVRDGNILS
910 920 930 940
CPDNCPLELY NLMRLCWSKL PADRPSFASI HRILERMYER AVASPQV