SMG8
entrez
55181
canonical
uniprot
Q8ND04
canonical
ensembl
ENSG00000167447
resolver
ensp
ENSP00000300917
resolver
genesymbol
SMG8
resolver
genesymbol_syn
ABC2
resolver
genesymbol_syn
C17orf71
resolver
hgnc
HGNC:25551
resolver
uniprot
Q8N5U5
resolver
uniprot
Q8TDN0
resolver
uniprot
Q9H5P5
resolver
uniprot
Q9NVQ1
resolver
uniprot_entry
SMG8_HUMAN
resolver
uniprot_sec
Q8N5U5
resolver
uniprot_sec
Q8TDN0
resolver
uniprot_sec
Q9H5P5
resolver
uniprot_sec
Q9NVQ1
resolver
amino_acid_sequence
MAGPVSLRDLLMGASAWMGSESPGGSPTEGGGSAAGGPEPPWREDEICVVGIFGKTALRLNSEKFSLVNTVCDRQVFPLFRHQDPGDPGPGIRTEAGAVGEAGGAEDPGAAAGGSVRGSGAVAEGNRTEAGSQDYSLLQAYYSQESKVLYLLLTSICDNSQLLRACRALQSGEAGGGLSLPHAEAHEFWKHQEKLQCLSLLYLFSVCHILLLVHPTCSFDITYDRVFRALDGLRQKVLPLLKTAIKDCPVGKDWKLNCRPCPPRLLFLFQLNGALKVEPPRNQDPAHPDKPKKHSPKRRLQHALEDQIYRIFRKSRVLTNQSINCLFTVPANQAFVYIVPGSQEEDPVGMLLDQLRSHCTVKDPESLLVPAPLSGPRRYQVMRQHSRQQLSFHIDSSSSSSSGQLVDFTLREFLWQHVELVLSKKGFDDSVGRNPQPSHFELPTYQKWISAASKLYEVAIDGKEEDLGSPTGELTSKILSSIKVLEGFLDIDTKFSENRCQKALPMAHSAYQSNLPHNYTMTVHKNQLAQALRVYSQHARGPAFHKYAMQLHEDCYKFWSNGHQLCEERSLTDQHCVHKFHSLPKSGEKPEADRNPPVLYHNSRARSTGACNCGRKQAPRDDPFDIKAANYDFYQLLEEKCCGKLDHINFPVFEPSTPDPAPAKNESSPAPPDSDADKLKEKEPQTQGESTSLSLALSLGQSTDSLGTYPADPQAGGDNPEVHGQVEVKTEKRPNFVDRQASTVEYLPGMLHSNCPKGLLPKFSSWSLVKLGPAKSYNFHTGLDQQGFIPGTNYLMPWDIVIRTRAEDEGDLDTNSWPAPNKAIPGKRSAVVMGRGRRRDDIARAFVGFEYEDSRGRRFMCSGPDKVMKVMGSGPKESALKALNSDMPLYILSSSQGRGLKPHYAQLMRLFVVVPDAPLQIILMPQVQPGPPPCPVFYPEKQEITLPPDGLWVLRFPYAYVTERGPCFPPKENVQLMSYKVLRGVLKAVTQ
uniprot
proteins
disease_involvement
DISEASE: Alzahrani-Kuwahara syndrome (ALKUS) [MIM:619268]: An autosomal recessive disorder characterized by severe global developmental delay, impaired intellectual function, poor or absent speech, microcephaly, and facial dysmorphism. Additional variable features include early-onset cataracts, hypotonia, lower limb spasticity, and congenital heart malformations. {ECO:0000269|PubMed:33242396}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity. {ECO:0000269|PubMed:19417104}.
uniprot
proteins
mass_dalton
109684
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by SMG1. {ECO:0000269|PubMed:19417104}.
uniprot
proteins
protein_family
SMG8 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19417104
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20817927
uniprot
proteins
pubmed
21245168
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
33205750
uniprot
proteins
pubmed
33242396
uniprot
proteins
sequence_length
991
uniprot
proteins