KEGG   Homo sapiens (human): 6247
Entry
6247              CDS       T01001                                 
Symbol
RS1, RS, XLRS1
Name
(RefSeq) retinoschisin 1
  KO
K25729  retinoschisin
Organism
hsa  Homo sapiens (human)
Disease
H02475  Retinoschisis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99995 Signaling proteins
    6247 (RS1)
SSDB
Motif
Pfam: F5_F8_type_C Lyase_N
Other DBs
NCBI-GeneID: 6247
NCBI-ProteinID: NP_000321
OMIM: 300839
HGNC: 10457
Ensembl: ENSG00000102104
UniProt: O15537
Structure
Position
X:complement(18639688..18672108)
AA seq 224 aa
MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCI
PECPYHKPLGFESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSS
QWLQIDLKEIKVISGILTQGRCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNS
DRTSTVQNLLRPPIISRFIRLIPLGWHVRIAIRMELLECVSKCA
NT seq 675 nt   +upstreamnt  +downstreamnt
atgtcacgcaagatagaaggctttttgttattacttctctttggctatgaagccacattg
ggattatcgtctaccgaggatgaaggcgaggacccctggtaccaaaaagcatgcaagtgc
gattgccaaggaggacccaatgctctgtggtctgcaggtgccacctccttggactgtata
ccagaatgcccatatcacaagcctctgggtttcgagtcaggggaggtcacaccggaccag
atcacctgctctaacccggagcagtatgtgggctggtattcttcgtggactgcaaacaag
gcccggctcaacagtcaaggctttgggtgtgcctggctctccaagttccaggacagtagc
cagtggttacagatagatctgaaggagatcaaagtgatttcagggatcctcacccagggg
cgctgtgacatcgatgagtggatgaccaagtacagcgtgcagtacaggaccgatgagcgc
ctgaactggatttactacaaggaccagactggaaacaaccgggtcttctatggcaactcg
gaccgcacctccacggttcagaacctgctgcggccccccatcatctcccgcttcatccgc
ctcatcccgctgggctggcacgtccgcattgccatccggatggagctgctggagtgcgtc
agcaagtgtgcctga

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Ontology (1)   
   KEGG BRITE (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (7)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (13)   
   RefSeq(nuc) (3)   
   GenBank (5)   
   EMBL (5)   
3D Structure (2)   
   PDB (2)   
Protein domain (2)   
   Pfam (2)   
All databases (34)   

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