KEGG   Homo sapiens (human): 6606Help
Entry
6606              CDS       T01001                                 

Gene name
SMN1, BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMNT, T-BCD541, TDRD16A
Definition
(RefSeq) survival of motor neuron 1, telomeric
  KO
K13129  
survival motor neuron protein
Organism
hsa  Homo sapiens (human)
Pathway
RNA transport
Module
Survival motor neuron (SMN) complex
Disease
H00455  
Spinal muscular atrophy (SMA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Translation
   03013 RNA transport
    6606 (SMN1)
Spliceosome [BR:hsa03041]
 Other splicing related proteins
  Proteins involved in snRNP biogenesis
   SMN complex factors
    6606 (SMN1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
5q13.2
AA seq 294 aa AA seqDB search
MAMSSGGSGGGVPEQEDSVLFRRGTGQSDDSDIWDDTALIKAYDKAVASFKHALKNGDIC
ETSGKPKTTPKRKPAKKNKSQKKNTAASLQQWKVGDKCSAIWSEDGCIYPATIASIDFKR
ETCVVVYTGYGNREEQNLSDLLSPICEVANNIEQNAQENENESQVSTDESENSRSPGNKS
DNIKPKSAPWNSFLPPPPPMPGPRLGPGKPGLKFNGPPPPPPPPPPHLLSCWLPPFPSGP
PIIPPPPPICPDSLDDADALGSMLISWYMSGYHTGYYMGFRQNQKEGRCSHSLN
NT seq 885 nt NT seq  +upstreamnt  +downstreamnt
atggcgatgagcagcggcggcagtggtggcggcgtcccggagcaggaggattccgtgctg
ttccggcgcggcacaggccagagcgatgattctgacatttgggatgatacagcactgata
aaagcatatgataaagctgtggcttcatttaagcatgctctaaagaatggtgacatttgt
gaaacttcgggtaaaccaaaaaccacacctaaaagaaaacctgctaagaagaataaaagc
caaaagaagaatactgcagcttccttacaacagtggaaagttggggacaaatgttctgcc
atttggtcagaagacggttgcatttacccagctaccattgcttcaattgattttaagaga
gaaacctgtgttgtggtttacactggatatggaaatagagaggagcaaaatctgtccgat
ctactttccccaatctgtgaagtagctaataatatagaacaaaatgctcaagagaatgaa
aatgaaagccaagtttcaacagatgaaagtgagaactccaggtctcctggaaataaatca
gataacatcaagcccaaatctgctccatggaactcttttctccctccaccaccccccatg
ccagggccaagactgggaccaggaaagccaggtctaaaattcaatggcccaccaccgcca
ccgccaccaccaccaccccacttactatcatgctggctgcctccatttccttctggacca
ccaataattcccccaccacctcccatatgtccagattctcttgatgatgctgatgctttg
ggaagtatgttaatttcatggtacatgagtggctatcatactggctattatatgggtttc
agacaaaatcaaaaagaaggaaggtgctcacattccttaaattaa

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