KEGG T01001: 5913

Homo sapiens (human): 5913

Entry

5913 CDS T01001

Gene name

RAPSN, RAPSYN, RNF205

Definition

receptor-associated protein of the synapse

Organism

hsa Homo sapiens (human)

Disease

H00770	Congenital myasthenic syndrome
H00987	Fetal akinesia deformation sequence (FADS)

Class

SSDB

Motif

Pfam:

Rapsyn_N TPR_12 TPR_1 TPR_11 TPR_2 TPR_8 TPR_10 TPR_19 zf-RING_2 zf-RING_5 SNAP Apc3 zf-C3HC4 zf-rbx1

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

11p11.2

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 (1)   
   KEGG BRITE (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   NCBI-Gene (1)   
   NCBI-GI (4)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (2)   
DNA sequence (10)   
   RefSeq(nuc) (2)   
   GenBank (4)   
   EMBL (4)   
Protein domain (14)   
   Pfam (14)   
All databases (45)   

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