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
hsa03013  RNA transport
Module
hsa_M00426  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: SMN TUDOR
Motif
Other DBs
NCBI-GeneID: 6606
NCBI-ProteinID: NP_000335
OMIM: 600354
HGNC: 11117
Ensembl: ENSG00000172062
Vega: OTTHUMG00000099361
UniProt: Q16637
Structure
PDB: 

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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