KEGG   Homo sapiens (human): 5913Help
Entry
5913              CDS       T01001                                 

Gene name
RAPSN, CMS11, CMS4C, FADS, RAPSYN, RNF205
Definition
(RefSeq) receptor associated protein of the synapse
Organism
hsa  Homo sapiens (human)
Disease
H00770  Congenital myasthenic syndrome
H00987  Fetal akinesia deformation sequence (FADS)
SSDB OrthologParalogGFIT
Motif
Pfam: Rapsyn_N TPR_12 TPR_1 TPR_2 TPR_8 zf-RING_2 TPR_11 zf-RING_11 TPR_19 zf-RING_5 SNAP zf-RING_UBOX TPR_10 Prok-RING_4 zf-RING_9 DUF3856 zf-C3HC4 zf-rbx1 Cys_rich_CPXG zf-RING_4
Motif
Other DBs
NCBI-GeneID: 5913
NCBI-ProteinID: NP_005046
OMIM: 601592
HGNC: 9863
Ensembl: ENSG00000165917
Vega: OTTHUMG00000166891
Pharos: Q13702(Tbio)
UniProt: Q13702 A0A0S2Z4F8
Position
11p11.2
AA seq 412 aa AA seqDB search
MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFRVLGCLVTAHSEMGRYK
EMLKFAVVQIDTARELEDADFLLESYLNLARSNEKLCEFHKTISYCKTCLGLPGTRAGAQ
LGGQVSLSMGNAFLGLSVFQKALESFEKALRYAHNNDDAMLECRVCCSLGSFYAQVKDYE
KALFFPCKAAELVNNYGKGWSLKYRAMSQYHMAVAYRLLGRLGSAMECCEESMKIALQHG
DRPLQALCLLCFADIHRSRGDLETAFPRYDSAMSIMTEIGNRLGQVQALLGVAKCWVARK
ALDKALDAIERAQDLAEEVGNKLSQLKLHCLSESIYRSKGLQRELRAHVVRFHECVEETE
LYCGLCGESIGEKNSRLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV
NT seq 1239 nt NT seq  +upstreamnt  +downstreamnt
atggggcaggaccagaccaagcagcagatcgagaaggggctccagctgtaccagtccaac
cagacagagaaggcattgcaggtgtggacaaaggtgctggagaagagctcggacctcatg
gggcgcttccgcgtgctgggctgcctggtcacagcccactcggagatgggccgctacaag
gagatgctgaagttcgctgtggtccagatcgacacggcccgggagctggaggatgccgac
ttcctcctggagagctacctgaacctggcacgcagcaacgagaagctgtgcgagtttcac
aagaccatctcctactgcaagacctgccttgggctgcctggtaccagggcaggtgcccag
ctcggaggccaggtcagcctgagcatgggcaatgccttcctgggcctcagcgtcttccag
aaggccctggagagcttcgagaaggccctgcgctatgcccacaacaatgatgacgccatg
ctcgagtgccgcgtgtgctgcagcctgggcagcttctatgcccaggtcaaggactacgag
aaagccctgttcttcccctgcaaggcggcagagcttgtcaacaactatggcaaaggctgg
agcctgaagtaccgggccatgagccagtaccacatggccgtggcctatcgcctgctgggc
cgcctgggcagtgccatggagtgttgtgaggagtctatgaagatcgcgctgcagcacggg
gaccggccactgcaggcgctctgcctgctctgcttcgctgacatccaccggagccgtggg
gacctggagacagccttccccaggtacgactccgccatgagcatcatgaccgagatcgga
aaccgcctggggcaggtgcaggcgctgctgggtgtggccaagtgctgggtggccaggaag
gcgctggacaaggctctggatgccatcgagagagcccaggatctggccgaggaggtgggg
aacaagctgagccagctcaagctgcactgtctgagcgagagcatttaccgcagcaaaggg
ctgcagcgggaactgcgggcgcacgttgtgaggttccacgagtgcgtggaggagacggag
ctctactgcggcctgtgcggcgagtccataggcgagaagaacagccggctgcaggcccta
ccttgctcccacatcttccacctcaggtgcctgcagaacaacgggacccggagctgtccc
aactgccgccgctcatccatgaagcctggctttgtatga

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