Homo sapiens (human): 55181
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Entry
55181 CDS
T01001
Symbol
SMG8, ALKUS, C17orf71
Name
(RefSeq) nonsense-mediated mRNA decay factor SMG8
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
Ortholog
Paralog
GFIT
Motif
Pfam:
Smg8_Smg9
Motif
Other DBs
NCBI-GeneID:
55181
NCBI-ProteinID:
NP_060619
OMIM:
613175
HGNC:
25551
Ensembl:
ENSP00000300917.4
UniProt:
Q8ND04
Structure
PDB
PDBj
LinkDB
All DBs
Position
17:59210035..59215230
Genome browser
AA seq
991 aa
AA seq
DB search
MAGPVSLRDLLMGASAWMGSESPGGSPTEGGGSAAGGPEPPWREDEICVVGIFGKTALRL
NSEKFSLVNTVCDRQVFPLFRHQDPGDPGPGIRTEAGAVGEAGGAEDPGAAAGGSVRGSG
AVAEGNRTEAGSQDYSLLQAYYSQESKVLYLLLTSICDNSQLLRACRALQSGEAGGGLSL
PHAEAHEFWKHQEKLQCLSLLYLFSVCHILLLVHPTCSFDITYDRVFRALDGLRQKVLPL
LKTAIKDCPVGKDWKLNCRPCPPRLLFLFQLNGALKVEPPRNQDPAHPDKPKKHSPKRRL
QHALEDQIYRIFRKSRVLTNQSINCLFTVPANQAFVYIVPGSQEEDPVGMLLDQLRSHCT
VKDPESLLVPAPLSGPRRYQVMRQHSRQQLSFHIDSSSSSSSGQLVDFTLREFLWQHVEL
VLSKKGFDDSVGRNPQPSHFELPTYQKWISAASKLYEVAIDGKEEDLGSPTGELTSKILS
SIKVLEGFLDIDTKFSENRCQKALPMAHSAYQSNLPHNYTMTVHKNQLAQALRVYSQHAR
GPAFHKYAMQLHEDCYKFWSNGHQLCEERSLTDQHCVHKFHSLPKSGEKPEADRNPPVLY
HNSRARSTGACNCGRKQAPRDDPFDIKAANYDFYQLLEEKCCGKLDHINFPVFEPSTPDP
APAKNESSPAPPDSDADKLKEKEPQTQGESTSLSLALSLGQSTDSLGTYPADPQAGGDNP
EVHGQVEVKTEKRPNFVDRQASTVEYLPGMLHSNCPKGLLPKFSSWSLVKLGPAKSYNFH
TGLDQQGFIPGTNYLMPWDIVIRTRAEDEGDLDTNSWPAPNKAIPGKRSAVVMGRGRRRD
DIARAFVGFEYEDSRGRRFMCSGPDKVMKVMGSGPKESALKALNSDMPLYILSSSQGRGL
KPHYAQLMRLFVVVPDAPLQIILMPQVQPGPPPCPVFYPEKQEITLPPDGLWVLRFPYAY
VTERGPCFPPKENVQLMSYKVLRGVLKAVTQ
NT seq
2976 nt
NT seq
+upstream
nt +downstream
nt
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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