KEGG   Homo sapiens (human): 5913
Entry
5913              CDS       T01001                                 
Symbol
RAPSN, CMS11, CMS4C, FADS, FADS2, RAPSYN, RNF205
Name
(RefSeq) receptor associated protein of the synapse
  KO
K24924  receptor-associated protein of the synapse
Organism
hsa  Homo sapiens (human)
Disease
H00770  Congenital myasthenic syndrome
H00987  Fetal akinesia deformation sequence
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04990 Domain-containing proteins not elsewhere classified [BR:hsa04990]
    5913 (RAPSN)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 Other domain-containing proteins
  Tetratricopeptide repeat-containing proteins
   5913 (RAPSN)
SSDB
Motif
Pfam: Rapsyn_N TPR_12 TPR_1 TPR_2 TPR_MalT TPR_8 zf-RING_2 zf-RING_5 TPR_11 TPR_19 TPR_16 zf-RING_11 TPR_10 SNAP DUF3856 zf-RING_UBOX RH_dom zf-C3HC4 zf-rbx1 Cohesin_load Cys_rich_CPXG Prok-RING_4 zf-RING_4
Other DBs
NCBI-GeneID: 5913
NCBI-ProteinID: NP_005046
OMIM: 601592
HGNC: 9863
Ensembl: ENSG00000165917
UniProt: Q13702 A0A0S2Z4F8
Position
11:complement(47437764..47449136)
AA seq 412 aa
MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFRVLGCLVTAHSEMGRYK
EMLKFAVVQIDTARELEDADFLLESYLNLARSNEKLCEFHKTISYCKTCLGLPGTRAGAQ
LGGQVSLSMGNAFLGLSVFQKALESFEKALRYAHNNDDAMLECRVCCSLGSFYAQVKDYE
KALFFPCKAAELVNNYGKGWSLKYRAMSQYHMAVAYRLLGRLGSAMECCEESMKIALQHG
DRPLQALCLLCFADIHRSRGDLETAFPRYDSAMSIMTEIGNRLGQVQALLGVAKCWVARK
ALDKALDAIERAQDLAEEVGNKLSQLKLHCLSESIYRSKGLQRELRAHVVRFHECVEETE
LYCGLCGESIGEKNSRLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV
NT seq 1239 nt   +upstreamnt  +downstreamnt
atggggcaggaccagaccaagcagcagatcgagaaggggctccagctgtaccagtccaac
cagacagagaaggcattgcaggtgtggacaaaggtgctggagaagagctcggacctcatg
gggcgcttccgcgtgctgggctgcctggtcacagcccactcggagatgggccgctacaag
gagatgctgaagttcgctgtggtccagatcgacacggcccgggagctggaggatgccgac
ttcctcctggagagctacctgaacctggcacgcagcaacgagaagctgtgcgagtttcac
aagaccatctcctactgcaagacctgccttgggctgcctggtaccagggcaggtgcccag
ctcggaggccaggtcagcctgagcatgggcaatgccttcctgggcctcagcgtcttccag
aaggccctggagagcttcgagaaggccctgcgctatgcccacaacaatgatgacgccatg
ctcgagtgccgcgtgtgctgcagcctgggcagcttctatgcccaggtcaaggactacgag
aaagccctgttcttcccctgcaaggcggcagagcttgtcaacaactatggcaaaggctgg
agcctgaagtaccgggccatgagccagtaccacatggccgtggcctatcgcctgctgggc
cgcctgggcagtgccatggagtgttgtgaggagtctatgaagatcgcgctgcagcacggg
gaccggccactgcaggcgctctgcctgctctgcttcgctgacatccaccggagccgtggg
gacctggagacagccttccccaggtacgactccgccatgagcatcatgaccgagatcgga
aaccgcctggggcaggtgcaggcgctgctgggtgtggccaagtgctgggtggccaggaag
gcgctggacaaggctctggatgccatcgagagagcccaggatctggccgaggaggtgggg
aacaagctgagccagctcaagctgcactgtctgagcgagagcatttaccgcagcaaaggg
ctgcagcgggaactgcgggcgcacgttgtgaggttccacgagtgcgtggaggagacggag
ctctactgcggcctgtgcggcgagtccataggcgagaagaacagccggctgcaggcccta
ccttgctcccacatcttccacctcaggtgcctgcagaacaacgggacccggagctgtccc
aactgccgccgctcatccatgaagcctggctttgtatga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (11)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (26)   
   RefSeq(nuc) (8)   
   GenBank (9)   
   EMBL (9)   
Protein domain (23)   
   Pfam (23)   
All databases (80)   

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