KEGG   Homo sapiens (human): 56006
Entry
56006             CDS       T01001                                 
Symbol
SMG9, C19orf61, F17127_1, HBMS, NEDITPO
Name
(RefSeq) SMG9 nonsense mediated mRNA decay factor
  KO
K18735  protein SMG9
Organism
hsa  Homo sapiens (human)
Disease
H02364  Heart and brain malformation syndrome
H02535  Neurodevelopmental disorder with dysmorphic facies
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03019 Messenger RNA biogenesis [BR:hsa03019]
    56006 (SMG9)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Surveillance factors
    Other surveillance factors
     56006 (SMG9)
SSDB
Motif
Pfam: Smg8_Smg9 AAA_30 DUF6079
Other DBs
NCBI-GeneID: 56006
NCBI-ProteinID: NP_061981
OMIM: 613176
HGNC: 25763
Ensembl: ENSG00000105771
UniProt: Q9H0W8
Structure
LinkDB
Position
19:complement(43727983..43754962)
AA seq 520 aa
MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSV
MQKTPIILSKPPAERSKQPPPPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPE
GTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPAAMDPVVGQAKLLPPERMKHS
IKLVDDQMNWCDSAIEYLLDQTDVLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRA
QSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYV
EMQSLQIAAFLFTVCHVVIVVQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEG
TEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHLRYKGTLSMLQCNVFPGLPPD
FLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSM
ARPQLSHTILTEKNWFHYAARIWDGVRKSSALAEYSRLLA
NT seq 1563 nt   +upstreamnt  +downstreamnt
atgtctgagtctggacacagtcagcctggactctatgggatagagcggcggcgacggtgg
aaggagcctggctctggtggcccccagaatctctctgggcctggtggtcgggagagggac
tacattgcaccatgggaaagagagagaagggatgccagcgaagagacaagcacttccgtc
atgcagaaaacccccatcatcctctcaaaacctccagcagagcggtcaaaacagccacca
cctccaacagcccctgctgccccgcctgctccagcccctctggagaagcccatcgttctc
atgaagccacgggaggaggggaaggggcctgtggccgtgacaggtgcctctacccctgag
ggcaccgccccaccaccccctgcagcccctgcgccacccaagggggagaaggaggggcag
agacccacacagcctgtgtaccagatccagaaccggggcatgggcactgccgcaccagca
gccatggaccctgtcgtgggtcaggccaaactactgcccccagagcgcatgaagcacagc
atcaagttggtggatgaccagatgaattggtgtgacagtgccatcgagtacctgttggat
cagactgatgtgttggtggttggtgtcctgggcctccaggggacaggcaagtccatggtc
atgtcattgttgtcagccaacactccagaggaggaccagaggacttatgttttccgggcc
cagagcgctgaaatgaaggaacgagggggcaaccagaccagtggcatcgacttctttatt
acccaagaacggattgttttcctggacacacagcccatcctgagcccttctatcctagac
catctcatcaataatgaccgcaaactgcctccagagtacaaccttccccacacttacgtt
gaaatgcagtcactccagattgctgccttccttttcacggtctgccatgtggtgattgtt
gtccaggactggttcacagacctcagtctctacaggttcctgcagacagcagagatggtg
aagccctccaccccatcccccagccacgagtccagcagctcatcgggctccgatgaaggc
accgagtactacccccacctagtcttcttgcagaacaaagctcgccgagaggacttctgt
cctcggaagctgcggcagatgcacctgatgattgaccagctcatggcccactcccacctg
cgttacaagggaactctgtccatgttacaatgcaatgtcttcccggggcttccacctgac
ttcctggactctgaggtcaacttattcctggtacccttcatggacagtgaagcagagagt
gaaaacccaccaagagcaggacctggttccagcccactcttctccctgctgcctgggtat
cgtggccaccccagtttccagtccttggtgagcaagctccggagccaagtgatgtccatg
gcccggccacagctgtcacacacgatcctcaccgagaagaactggttccactacgctgcc
cggatctgggatggggtgagaaagtcctctgctctggcagagtacagccgcctgctggcc
tga

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