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
LinkDB
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

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