KEGG   Homo sapiens (human): 55181
Entry
55181             CDS       T01001                                 
Symbol
SMG8, ALKUS, C17orf71
Name
(RefSeq) SMG8 nonsense mediated mRNA decay factor
  KO
K18734  protein SMG8
Organism
hsa  Homo sapiens (human)
Disease
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]
    55181 (SMG8)
Messenger RNA biogenesis [BR:hsa03019]
 Eukaryotic type
  mRNA surveillance and transport factors
   Surveillance factors
    Other surveillance factors
     55181 (SMG8)
SSDB
Motif
Pfam: Smg8_Smg9
Other DBs
NCBI-GeneID: 55181
NCBI-ProteinID: NP_060619
OMIM: 613175
HGNC: 25551
Ensembl: ENSG00000167447
UniProt: Q8ND04
Structure
LinkDB
Position
17:59210035..59215230
AA seq 991 aa
MAGPVSLRDLLMGASAWMGSESPGGSPTEGGGSAAGGPEPPWREDEICVVGIFGKTALRL
NSEKFSLVNTVCDRQVFPLFRHQDPGDPGPGIRTEAGAVGEAGGAEDPGAAAGGSVRGSG
AVAEGNRTEAGSQDYSLLQAYYSQESKVLYLLLTSICDNSQLLRACRALQSGEAGGGLSL
PHAEAHEFWKHQEKLQCLSLLYLFSVCHILLLVHPTCSFDITYDRVFRALDGLRQKVLPL
LKTAIKDCPVGKDWKLNCRPCPPRLLFLFQLNGALKVEPPRNQDPAHPDKPKKHSPKRRL
QHALEDQIYRIFRKSRVLTNQSINCLFTVPANQAFVYIVPGSQEEDPVGMLLDQLRSHCT
VKDPESLLVPAPLSGPRRYQVMRQHSRQQLSFHIDSSSSSSSGQLVDFTLREFLWQHVEL
VLSKKGFDDSVGRNPQPSHFELPTYQKWISAASKLYEVAIDGKEEDLGSPTGELTSKILS
SIKVLEGFLDIDTKFSENRCQKALPMAHSAYQSNLPHNYTMTVHKNQLAQALRVYSQHAR
GPAFHKYAMQLHEDCYKFWSNGHQLCEERSLTDQHCVHKFHSLPKSGEKPEADRNPPVLY
HNSRARSTGACNCGRKQAPRDDPFDIKAANYDFYQLLEEKCCGKLDHINFPVFEPSTPDP
APAKNESSPAPPDSDADKLKEKEPQTQGESTSLSLALSLGQSTDSLGTYPADPQAGGDNP
EVHGQVEVKTEKRPNFVDRQASTVEYLPGMLHSNCPKGLLPKFSSWSLVKLGPAKSYNFH
TGLDQQGFIPGTNYLMPWDIVIRTRAEDEGDLDTNSWPAPNKAIPGKRSAVVMGRGRRRD
DIARAFVGFEYEDSRGRRFMCSGPDKVMKVMGSGPKESALKALNSDMPLYILSSSQGRGL
KPHYAQLMRLFVVVPDAPLQIILMPQVQPGPPPCPVFYPEKQEITLPPDGLWVLRFPYAY
VTERGPCFPPKENVQLMSYKVLRGVLKAVTQ
NT seq 2976 nt   +upstreamnt  +downstreamnt
atggctggtcccgtgagcttgcgagaccttctaatgggagcatcagcctggatgggctct
gaaagtcccggagggtcccctactgagggcggagggagcgcggctggcggaccggagcct
ccatggcgggaggatgagatctgcgttgtgggaatcttcggcaagacggctctacgcctg
aattccgagaagttctctcttgtgaatacggtgtgcgaccgacaggtctttcctctcttt
cgccaccaagatcctggggatccaggacctggaatcagaactgaggctggcgccgtgggt
gaggccggtggagccgaggaccctggggctgcagccgggggttcagttcggggaagtgga
gctgtcgcggaaggtaaccgaactgaggcaggctcccaggactacagccttctgcaggcc
tactacagtcaggaaagcaaagttctgtatcttctcctcacctccatctgtgacaattca
cagcttctccgggcttgtcgggctcttcagagcggggaagctggaggtggactctcttta
cctcatgcagaagcacacgagttctggaagcatcaagagaagctgcagtgcctcagtctc
ctttacctattctctgtctgtcatatcttgcttctggtccatcccacttgttcctttgat
atcacttatgatcgagtattcagagccctggatgggctgagacagaaggtcctgccgctc
cttaaaacagccattaaggattgtccagttggcaaagactggaagctaaactgccgacct
tgcccacctagactccttttcctctttcaactcaatggagccctcaaggtagaacctcct
cggaaccaagacccagctcatccagacaagcccaagaaacattctcccaaaaggaggctg
cagcatgccctggaggaccagatctatagaatcttccggaagagtcgtgtcttgactaat
cagagcatcaactgcctctttactgtgcctgccaaccaagctttcgtgtacatagtaccg
ggaagccaggaggaggacccagtaggtatgttgctggaccaacttaggagtcattgtact
gtgaaggacccggaatctttgctggtgcctgcacccctttctgggcctaggcgataccag
gtgatgaggcagcacagccgacaacaactttcctttcacattgacagcagcagttccagt
tcttcaggccagctagtggatttcactcttcgggaattcctatggcagcatgtggagcta
gttctaagcaagaaaggtttcgatgacagtgtgggcaggaacccacagccttcccatttt
gaacttcctacttatcagaagtggatctcagcagcttcaaaactgtatgaggtggctatt
gatgggaaagaagaggacttggggtcacccactggagagctaacatctaagattttaagc
agtattaaagtcttggaaggatttttggatattgacacaaaattctcagaaaaccgatgc
caaaaagctttacccatggcccacagtgcctaccagtcaaatttgcctcataattacaca
atgactgtccataagaatcagcttgcccaggctcttcgagtgtacagtcaacatgctaga
ggtccagcatttcacaaatacgccatgcagttacatgaggactgctacaaattttggagc
aatggccatcagctctgtgaggagaggagtttaactgatcaacactgtgtgcacaaattt
cactcattacctaaatcaggagaaaaaccagaggctgatagaaatccgcctgtgctatat
cacaatagccgagctcgatctactggtgcttgcaactgtggaaggaaacaagcacctcga
gatgatccctttgatatcaaagcagccaattatgacttctatcagcttctggaagaaaag
tgttgtggaaaattggatcatatcaatttcccagtatttgaaccaagtactccagatcct
gctcctgctaaaaatgaatcctctcctgctcctccagattcggatgctgataaacttaaa
gaaaaagaacctcaaacccaaggagagagcacgagcctgagtttagctttgagtttgggc
caatccacagatagcttaggtacctatccagctgatccacaagcaggaggagataatcca
gaagttcatggtcaagtagaagtgaaaactgagaagaggccaaacttcgttgatcgacag
gcatccacagttgagtatctcccaggcatgctacattcaaattgccctaaaggtctccta
cccaaattctccagctggtctttggttaaactaggccctgctaagtcttataactttcat
acaggtttggaccaacagggctttattccaggaacaaattatcttatgccttgggacatt
gtcatcaggactagagctgaagatgaaggagacttagacacaaactcttggcctgctcca
aataaagctattcctggaaagagaagtgcggttgtaatgggaagaggaagacggcgagat
gacatagctcgagcttttgtgggctttgaatatgaagactctcgaggtcggagattcatg
tgctctgggcctgacaaagtaatgaaagtaatgggaagtgggccaaaggaatcagcttta
aaagccctaaatagtgacatgcccttatatattctgtcatcctctcaaggtagagggctg
aaacctcattatgctcaacttatgaggctttttgttgtggttcctgatgctcctttgcag
ataatactaatgcctcaggttcagccaggcccaccaccatgtccggtattctacccagaa
aaacaagaaatcacccttccacctgatggcctttgggttttgagatttccttatgcatat
gtgactgagagaggaccttgtttcccccctaaggaaaatgtgcagttaatgagctacaag
gtgctccgtggggttcttaaggcagtaacacaataa

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