| Type | Description |
|---|---|
| Definition | receptor associated protein of the synapse |
| Date | Results | Publications |
|---|---|---|
| 2020-02-01 11:07:00 | In investigating how N88K missense mutation in Rapsn impairs the neuromuscular junction, the authors uncovered a novel signaling pathway by which Agrin-LRP4-MuSK induces tyrosine phosphorylation of Rapsn, which is required for its self-association and E3 ligase activity. | 31549961 |
| 2018-03-31 10:53:00 | Report attributes the RAPSN mutation c.484G > A, identified in a homozygous state, to causing fetal akinesia deformation sequence. | 28495245 |
| 2018-02-17 10:32:00 | Mutations in RAPSN and COLQ are the most common causes of congenital myasthenic syndrome in Israel. | 28024842 |
| 2018-02-10 10:29:00 | Hypomethylation of CpG sites in RPTOR, MGRN1 and RAPSN in blood is associated with breast cancer. | 27577081 |
| 2016-08-27 10:28:00 | These findings uncover a new link between rapsyn, lysosome positioning, exocytosis and plasma membrane integrity. | 26330529 |
| Type | IDs |
|---|---|
| Synonymous | CMS11, CMS4C, FADS, RAPSYN, RNF205 |
| Gene |
UniProtKB-ID:
RAPSN_HUMAN,
A0A0S2Z4A6_HUMAN,
A0A0S2Z4M9_HUMAN,
A0A0S2Z4A2_HUMAN,
A0A0S2Z4F8_HUMAN
UniprotKB:
Q13702,
A0A0S2Z4A6,
A0A0S2Z4M9,
A0A0S2Z4A2,
A0A0S2Z4F8
UniParc:
UPI000387D18D,
UPI0000071D46,
UPI000013E52F,
UPI000387AE1D
EMBL:
AF449218,
KU178302,
CH471064,
KU178303,
BC004196,
KU178304,
Z33905,
KU178300
Ensembl:
ENSG00000165917
KO:
hsa:5913
|
| Nucleutide sequences |
EMBL-CDS:
EAW67914.1,
AAH04196.1,
AAL86639.1,
CAA83954.1,
ALQ33761.1,
EAW67915.1,
ALQ33758.1,
ALQ33762.1,
ALQ33760.1
Gene_ORFName:
hCG_25182
Ensembl_TRS:
ENST00000352508,
ENST00000298854
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000298853,
ENSP00000298854
RefSeq:
XP_011518554.1,
NP_116034.2,
XP_005253100.1,
XP_005253099.1,
NP_005046.2
|
| Others |
UniRef100:
UniRef100_A0A0S2Z4A2,
UniRef100_A0A0S2Z4A6,
UniRef100_Q13702-2,
UniRef100_Q13702
UniRef90:
UniRef90_A0A2K6SU20,
UniRef90_Q13702-2,
UniRef90_Q13702,
UniRef90_A0A0S2Z4A2
UniRef50:
UniRef50_Q13702-2,
UniRef50_Q13702
UniGene:
Hs.81218
CCDS:
CCDS7937.1,
CCDS7936.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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