Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

RAPSN_HUMAN

GO
G2C
SynaptomeDB

Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. [View more on UniProt]

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Position Amino acid Mutation Disease Overlap with binding region
14 Leu Pro Myasthenicsyndrome,congenital,11,associatedwithacetylcholinereceptordeficiency(CMS11) -
88 Asn Lys Myasthenicsyndrome,congenital,11,associatedwithacetylcholinereceptordeficiency(CMS11) -
45 Val Met Myasthenicsyndrome,congenital,11,associatedwithacetylcholinereceptordeficiency(CMS11) -
139 Phe Ser Fetalakinesiadeformationsequence2(FADS2) -
162 Glu Lys Myasthenicsyndrome,congenital,11,associatedwithacetylcholinereceptordeficiency(CMS11) -
164 Arg Cys Myasthenicsyndrome,congenital,11,associatedwithacetylcholinereceptordeficiency(CMS11) -
189 Ala Val Fetalakinesiadeformationsequence2(FADS2) -
283 Leu Pro Myasthenicsyndrome,congenital,11,associatedwithacetylcholinereceptordeficiency(CMS11) -

No annotated instance was found. To search for linear motifs, use the ELM prediction server.

Molecular function

Term Name % Distance from the top of the tree Annotated in RAPSN_HUMAN
GO:0017076 purine nucleotide binding 42.4242 4 no
GO:0030554 adenyl nucleotide binding 42.4242 5 no
GO:0005524 ATP binding 39.3939 5 no
GO:0032555 purine ribonucleotide binding 39.3939 4 no
GO:0032559 adenyl ribonucleotide binding 39.3939 5 no
GO:0035639 purine ribonucleoside triphosphate binding 39.3939 4 no
GO:0046872 metal ion binding 33.3333 4 yes
GO:0019900 kinase binding 33.3333 4 no
GO:0019901 protein kinase binding 33.3333 5 no
GO:0016301 kinase activity 27.2727 4 no
GO:0045296 cadherin binding 27.2727 4 no
GO:0004712 protein serine/threonine/tyrosine kinase activity 24.2424 4 no
GO:0016773 phosphotransferase activity, alcohol group as acceptor 24.2424 4 no
GO:0003779 actin binding 21.2121 4 no
GO:0033130 acetylcholine receptor binding 6.0606 4 yes
GO:0035254 glutamate receptor binding 6.0606 4 yes
GO:0035255 ionotropic glutamate receptor binding 6.0606 5 yes

Biological process

Term Name % Distance from top the of the tree Annotated in RAPSN_HUMAN
GO:0048522 positive regulation of cellular process 81.8182 4 yes
GO:0051128 regulation of cellular component organization 66.6667 4 yes
GO:0031323 regulation of cellular metabolic process 57.5758 4 no
GO:0009893 positive regulation of metabolic process 54.5455 4 no
GO:0051171 regulation of nitrogen compound metabolic process 54.5455 4 no
GO:0060255 regulation of macromolecule metabolic process 54.5455 4 no
GO:0080090 regulation of primary metabolic process 54.5455 4 no
GO:0010646 regulation of cell communication 51.5152 4 yes
GO:0010941 regulation of cell death 51.5152 4 yes
GO:0042981 regulation of apoptotic process 51.5152 6 yes
GO:0043067 regulation of programmed cell death 51.5152 5 yes
GO:0010604 positive regulation of macromolecule metabolic process 51.5152 5 no
GO:0031325 positive regulation of cellular metabolic process 51.5152 5 no
GO:0051173 positive regulation of nitrogen compound metabolic process 51.5152 5 no
GO:0006996 organelle organization 48.4848 4 no
GO:0048523 negative regulation of cellular process 48.4848 4 no
GO:0022607 cellular component assembly 48.4848 4 no
GO:0009966 regulation of signal transduction 45.4545 4 no
GO:0043085 positive regulation of catalytic activity 45.4545 4 no
GO:0044087 regulation of cellular component biogenesis 45.4545 4 no
GO:0051130 positive regulation of cellular component organization 45.4545 5 no
GO:0008104 protein localization 42.4242 4 yes
GO:0010647 positive regulation of cell communication 39.3939 5 yes
GO:0023056 positive regulation of signaling 39.3939 4 yes
GO:0051246 regulation of protein metabolic process 39.3939 5 no
GO:0051247 positive regulation of protein metabolic process 39.3939 6 no
GO:0051338 regulation of transferase activity 39.3939 4 no
GO:0033043 regulation of organelle organization 39.3939 5 no
GO:0022603 regulation of anatomical structure morphogenesis 36.3636 4 no
GO:0030030 cell projection organization 36.3636 4 no
GO:0031399 regulation of protein modification process 36.3636 6 no
GO:0031401 positive regulation of protein modification process 36.3636 7 no
GO:0032880 regulation of protein localization 36.3636 5 no
GO:0051347 positive regulation of transferase activity 36.3636 5 no
GO:0060341 regulation of cellular localization 36.3636 4 no
GO:1902531 regulation of intracellular signal transduction 36.3636 5 no
GO:0009889 regulation of biosynthetic process 36.3636 4 no
GO:0010556 regulation of macromolecule biosynthetic process 36.3636 5 no
GO:0031326 regulation of cellular biosynthetic process 36.3636 5 no
GO:0051049 regulation of transport 36.3636 4 no
GO:0048584 positive regulation of response to stimulus 36.3636 4 no
GO:0034330 cell junction organization 36.3636 4 no
GO:0001932 regulation of protein phosphorylation 33.3333 7 no
GO:0001934 positive regulation of protein phosphorylation 33.3333 8 no
GO:0010562 positive regulation of phosphorus metabolic process 33.3333 6 no
GO:0019220 regulation of phosphate metabolic process 33.3333 6 no
GO:0042325 regulation of phosphorylation 33.3333 7 no
GO:0042327 positive regulation of phosphorylation 33.3333 8 no
GO:0045937 positive regulation of phosphate metabolic process 33.3333 7 no
GO:0051174 regulation of phosphorus metabolic process 33.3333 5 no
GO:0019219 regulation of nucleobase-containing compound metabolic process 33.3333 5 no
GO:0009967 positive regulation of signal transduction 33.3333 5 no
GO:0080134 regulation of response to stress 33.3333 4 no
GO:0099537 trans-synaptic signaling 30.3030 4 yes
GO:0007010 cytoskeleton organization 30.3030 5 no
GO:0030334 regulation of cell migration 30.3030 5 no
GO:0043549 regulation of kinase activity 30.3030 5 no
GO:0051094 positive regulation of developmental process 30.3030 4 no
GO:0051240 positive regulation of multicellular organismal process 30.3030 4 no
GO:2000145 regulation of cell motility 30.3030 4 no
GO:0043066 negative regulation of apoptotic process 30.3030 7 no
GO:0043069 negative regulation of programmed cell death 30.3030 6 no
GO:0060548 negative regulation of cell death 30.3030 5 no
GO:0007268 chemical synaptic transmission 27.2727 6 yes
GO:0072657 protein localization to membrane 27.2727 4 yes
GO:0098916 anterograde trans-synaptic signaling 27.2727 5 yes
GO:0010648 negative regulation of cell communication 27.2727 5 no
GO:0023057 negative regulation of signaling 27.2727 4 no
GO:0030155 regulation of cell adhesion 27.2727 4 no
GO:0033674 positive regulation of kinase activity 27.2727 6 no
GO:0045595 regulation of cell differentiation 27.2727 4 no
GO:0045859 regulation of protein kinase activity 27.2727 6 no
GO:0071310 cellular response to organic substance 27.2727 4 no
GO:0120036 plasma membrane bounded cell projection organization 27.2727 5 no
GO:2000026 regulation of multicellular organismal development 27.2727 4 no
GO:0009891 positive regulation of biosynthetic process 27.2727 5 no
GO:0010557 positive regulation of macromolecule biosynthetic process 27.2727 6 no
GO:0010638 positive regulation of organelle organization 27.2727 6 no
GO:0031328 positive regulation of cellular biosynthetic process 27.2727 6 no
GO:0045935 positive regulation of nucleobase-containing compound metabolic process 27.2727 6 no
GO:0043269 regulation of ion transport 27.2727 5 no
GO:0010468 regulation of gene expression 27.2727 5 no
GO:0036211 protein modification process 27.2727 4 no
GO:0042127 regulation of cell population proliferation 27.2727 4 no
GO:0043412 macromolecule modification 27.2727 4 no
GO:0051493 regulation of cytoskeleton organization 27.2727 6 no
GO:0051336 regulation of hydrolase activity 27.2727 4 no
GO:0010942 positive regulation of cell death 24.2424 5 yes
GO:0043065 positive regulation of apoptotic process 24.2424 7 yes
GO:0043068 positive regulation of programmed cell death 24.2424 6 yes
GO:0022604 regulation of cell morphogenesis 24.2424 5 no
GO:0043408 regulation of MAPK cascade 24.2424 6 no
GO:0044089 positive regulation of cellular component biogenesis 24.2424 5 no
GO:0045860 positive regulation of protein kinase activity 24.2424 7 no
GO:0043933 protein-containing complex organization 24.2424 4 no
GO:0051052 regulation of DNA metabolic process 24.2424 5 no
GO:0051054 positive regulation of DNA metabolic process 24.2424 6 no
GO:0065003 protein-containing complex assembly 24.2424 5 no
GO:1903829 positive regulation of protein localization 24.2424 5 no
GO:2000278 regulation of DNA biosynthetic process 24.2424 6 no
GO:2000573 positive regulation of DNA biosynthetic process 24.2424 7 no
GO:0009894 regulation of catabolic process 24.2424 4 no
GO:0032101 regulation of response to external stimulus 24.2424 4 no
GO:0043254 regulation of protein-containing complex assembly 24.2424 5 no
GO:1902533 positive regulation of intracellular signal transduction 24.2424 6 no
GO:0006468 protein phosphorylation 24.2424 5 no
GO:0006796 phosphate-containing compound metabolic process 24.2424 4 no
GO:0007167 enzyme-linked receptor protein signaling pathway 24.2424 4 no
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway 24.2424 5 no
GO:0016310 phosphorylation 24.2424 5 no
GO:0031344 regulation of cell projection organization 24.2424 5 no
GO:0120035 regulation of plasma membrane bounded cell projection organization 24.2424 6 no
GO:1902903 regulation of supramolecular fiber organization 24.2424 5 no
GO:0034329 cell junction assembly 24.2424 5 no
GO:0051050 positive regulation of transport 24.2424 4 no
GO:0009968 negative regulation of signal transduction 21.2121 5 no
GO:0010810 regulation of cell-substrate adhesion 21.2121 5 no
GO:0014070 response to organic cyclic compound 21.2121 4 no
GO:0048585 negative regulation of response to stimulus 21.2121 4 no
GO:0051896 regulation of protein kinase B signaling 21.2121 6 no
GO:0002684 positive regulation of immune system process 21.2121 4 no
GO:0032103 positive regulation of response to external stimulus 21.2121 5 no
GO:0032271 regulation of protein polymerization 21.2121 6 no
GO:0050776 regulation of immune response 21.2121 4 no
GO:0008284 positive regulation of cell population proliferation 21.2121 5 no
GO:0030335 positive regulation of cell migration 21.2121 6 no
GO:0032956 regulation of actin cytoskeleton organization 21.2121 5 no
GO:0032970 regulation of actin filament-based process 21.2121 4 no
GO:0040017 positive regulation of locomotion 21.2121 4 no
GO:0110053 regulation of actin filament organization 21.2121 6 no
GO:2000147 positive regulation of cell motility 21.2121 5 no
GO:0010959 regulation of metal ion transport 21.2121 6 no
GO:0051726 regulation of cell cycle 21.2121 4 no
GO:0009892 negative regulation of metabolic process 21.2121 4 no
GO:0010605 negative regulation of macromolecule metabolic process 21.2121 5 no
GO:0031324 negative regulation of cellular metabolic process 21.2121 5 no
GO:0051172 negative regulation of nitrogen compound metabolic process 21.2121 5 no
GO:0043523 regulation of neuron apoptotic process 18.1818 6 yes
GO:1901214 regulation of neuron death 18.1818 5 yes
GO:1990778 protein localization to cell periphery 18.1818 5 yes
GO:0050804 modulation of chemical synaptic transmission 15.1515 5 yes
GO:0099177 regulation of trans-synaptic signaling 15.1515 4 yes
GO:0007271 synaptic transmission, cholinergic 12.1212 7 yes
GO:0043525 positive regulation of neuron apoptotic process 12.1212 7 yes
GO:0090150 establishment of protein localization to membrane 12.1212 4 yes
GO:1901216 positive regulation of neuron death 12.1212 6 yes
GO:1902414 protein localization to cell junction 12.1212 5 yes
GO:0035418 protein localization to synapse 9.0909 6 yes
GO:0050806 positive regulation of synaptic transmission 9.0909 5 yes
GO:0062237 protein localization to postsynapse 9.0909 7 yes
GO:1903539 protein localization to postsynaptic membrane 9.0909 5 yes
GO:1900073 regulation of neuromuscular synaptic transmission 6.0606 6 yes
GO:1900075 positive regulation of neuromuscular synaptic transmission 6.0606 6 yes
GO:1901626 regulation of postsynaptic membrane organization 6.0606 5 yes
GO:1903540 establishment of protein localization to postsynaptic membrane 6.0606 5 yes

Disease

Term Name % Distance from top the of the tree Annotated in RAPSN_HUMAN
DOID:3635 congenital myasthenic syndrome 9.0909 7 yes
DOID:439 neuromuscular junction disease 9.0909 6 yes
DOID:440 neuromuscular disease 9.0909 5 yes
DOID:574 peripheral nervous system disease 9.0909 3 yes
DOID:870 neuropathy 9.0909 4 yes
DOID:0110675 congenital myasthenic syndrome 11 6.0606 8 yes
DOID:0111378 fetal akinesia deformation sequence syndrome 2 6.0606 3 yes
DOID:0080000 muscular disease 6.0606 3 no
DOID:423 myopathy 6.0606 5 no
DOID:66 muscle tissue disease 6.0606 4 no
DOID:0050700 cardiomyopathy 6.0606 4 no
DOID:0060036 intrinsic cardiomyopathy 6.0606 5 no
DOID:114 heart disease 6.0606 3 no
DOID:12930 dilated cardiomyopathy 6.0606 6 no
Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
ACHB_HUMAN [view entry] [view interactions] Low throughput yes yes
KHDR1_HUMAN [view interactions] Low throughput no yes
DAG1_HUMAN [view entry] [view interactions] Low throughput yes no
ACHA4_HUMAN [view entry] [view interactions] Low throughput yes no
RAPSN_HUMAN [view entry] [view interactions] Low throughput yes no
KLHL8_HUMAN [view interactions] Low throughput no no
ACHA_HUMAN [view entry] [view interactions] Low throughput yes no
CAN2_HUMAN [view interactions] Low throughput no no
ACTN2_HUMAN [view entry] [view interactions] Low throughput yes yes
CSK21_HUMAN [view entry] [view interactions] Low throughput yes yes
SRC_HUMAN [view entry] [view interactions] Low throughput yes no
UBE2Z_HUMAN [view interactions] High throughput no yes
HS90B_HUMAN [view entry] [view interactions] High throughput yes yes
DLG1_HUMAN [view entry] [view interactions] High throughput yes yes
TRI54_HUMAN [view interactions] High throughput no no
SMUF1_HUMAN [view interactions] High throughput no yes
HS90A_HUMAN [view entry] [view interactions] High throughput yes yes
BAG3_HUMAN [view entry] [view interactions] High throughput yes no
HERC1_HUMAN [view interactions] High throughput no no
KCMF1_HUMAN [view interactions] High throughput no yes
UBR4_HUMAN [view entry] [view interactions] High throughput yes yes
TUSC2_HUMAN [view interactions] High throughput no no
HSP72_HUMAN [view entry] [view interactions] High throughput yes no
ZZEF1_HUMAN [view interactions] High throughput no no
TCPB_HUMAN [view entry] [view interactions] High throughput yes yes
TCPA_HUMAN [view entry] [view interactions] High throughput yes yes
P53_HUMAN [view interactions] High throughput no no
DOK7_HUMAN [view interactions] Computational no yes
LAMA3_HUMAN [view interactions] Computational no no
CTNB1_HUMAN [view entry] [view interactions] Computational yes yes
LAMC2_HUMAN [view interactions] Computational no no
LAMB3_HUMAN [view interactions] Computational no yes
RN103_HUMAN [view interactions] Computational no no
ARHG6_HUMAN [view interactions] Computational no no
LAMC1_HUMAN [view interactions] Computational no yes
ACTS_HUMAN [view interactions] Computational no no
PAK5_HUMAN [view interactions] Computational no yes
LAMA5_HUMAN [view entry] [view interactions] Computational yes no
PAK1_HUMAN [view entry] [view interactions] Computational yes yes
FAK2_HUMAN [view entry] [view interactions] Computational yes yes
LAMB2_HUMAN [view interactions] Computational no yes
ARHG7_HUMAN [view entry] [view interactions] Computational yes yes
MACF1_HUMAN [view entry] [view interactions] Computational yes yes
ITB1_HUMAN [view entry] [view interactions] Computational yes no
UTRN_HUMAN [view entry] [view interactions] Computational yes yes
ITA1_HUMAN [view interactions] Computational no yes
LAMC3_HUMAN [view interactions] Computational no no
PAK3_HUMAN [view entry] [view interactions] Computational yes no
LAMA1_HUMAN [view interactions] Computational no no
PAXI_HUMAN [view interactions] Computational no yes
PAK2_HUMAN [view entry] [view interactions] Computational yes no
MUSK_HUMAN [view entry] [view interactions] Computational yes no
FAK1_HUMAN [view entry] [view interactions] Computational yes yes
AGRIN_HUMAN [view entry] [view interactions] Computational yes yes
LAMB1_HUMAN [view interactions] Computational no yes
PAK4_HUMAN [view interactions] Computational no yes
COLQ_HUMAN [view interactions] Computational no no
GIT2_HUMAN [view interactions] Computational no yes
SRC8_HUMAN [view entry] [view interactions] Computational yes yes
ACM1_HUMAN [view entry] [view interactions] Computational yes yes
LAMA2_HUMAN [view interactions] Computational no no
ACHD_HUMAN [view entry] [view interactions] Computational yes no