KEGG   Homo sapiens (human): 6606
Entry
6606              CDS       T01001                                 
Symbol
SMN1, BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A
Name
(RefSeq) survival of motor neuron 1, telomeric
  KO
K13129  survival motor neuron protein
Organism
hsa  Homo sapiens (human)
Disease
H00455  Spinal muscular atrophy
Drug target
Onasemnogene abeparvovec: D11559<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03041 Spliceosome [BR:hsa03041]
    6606 (SMN1)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    6606 (SMN1)
SSDB
Motif
Pfam: SMN_Tudor SMN_YG-box SMN_G2-BD TUDOR
Other DBs
NCBI-GeneID: 6606
NCBI-ProteinID: NP_000335
OMIM: 600354
HGNC: 11117
Ensembl: ENSG00000172062
UniProt: Q16637
Structure
Position
5:70924941..70966375
AA seq 294 aa
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDIC
ETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKR
ETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKS
DNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP
PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGFRQNQKEGRCSHSLN
NT seq 885 nt   +upstreamnt  +downstreamnt
atggcgatgagcagcggcggcagtggtggcggcgtcccggagcaggaggattccgtgctg
ttccggcgcggcacaggccagagcgatgattctgacatttgggatgatacagcactgata
aaagcatatgataaagctgtggcttcatttaagcatgctctaaagaatggtgacatttgt
gaaacttcgggtaaaccaaaaaccacacctaaaagaaaacctgctaagaagaataaaagc
caaaagaagaatactgcagcttccttacaacagtggaaagttggggacaaatgttctgcc
atttggtcagaagacggttgcatttacccagctaccattgcttcaattgattttaagaga
gaaacctgtgttgtggtttacactggatatggaaatagagaggagcaaaatctgtccgat
ctactttccccaatctgtgaagtagctaataatatagaacaaaatgctcaagagaatgaa
aatgaaagccaagtttcaacagatgaaagtgagaactccaggtctcctggaaataaatca
gataacatcaagcccaaatctgctccatggaactcttttctccctccaccaccccccatg
ccagggccaagactgggaccaggaaagccaggtctaaaattcaatggcccaccaccgcca
ccgccaccaccaccaccccacttactatcatgctggctgcctccatttccttctggacca
ccaataattcccccaccacctcccatatgtccagattctcttgatgatgctgatgctttg
ggaagtatgttaatttcatggtacatgagtggctatcatactggctattatatgggtttc
agacaaaatcaaaaagaaggaaggtgctcacattccttaaattaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (6)   
   KEGG DISEASE (1)   
   OMIM (5)   
Drug (1)   
   KEGG DRUG (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
Protein sequence (48)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (46)   
DNA sequence (150)   
   RefSeq(nuc) (46)   
   GenBank (52)   
   EMBL (52)   
3D Structure (15)   
   PDB (15)   
Protein domain (4)   
   Pfam (4)   
All databases (246)   

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