SMG9
entrez
56006
canonical
uniprot
Q9H0W8
canonical
ensembl
ENSG00000105771
resolver
ensp
ENSP00000270066
resolver
ensp
ENSP00000653733
resolver
genesymbol
SMG9
resolver
genesymbol_syn
C19orf61
resolver
hgnc
HGNC:25763
resolver
uniprot
O60429
resolver
uniprot
Q9H9A9
resolver
uniprot_entry
SMG9_HUMAN
resolver
uniprot_sec
O60429
resolver
uniprot_sec
Q9H9A9
resolver
amino_acid_sequence
MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSKPPAERSKQPPPPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPAAMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDVLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRAQSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIVVQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHLRYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSMARPQLSHTILTEKNWFHYAARIWDGVRKSSALAEYSRLLA
uniprot
proteins
disease_involvement
DISEASE: Heart and brain malformation syndrome (HBMS) [MIM:616920]: An autosomal recessive syndrome characterized by multiple congenital anomalies such as cardiac defects, brain malformations, including cerebellar vermis hypoplasia, hypoplastic corpus callosum and Dandy-Walker malformation, profoundly delayed psychomotor development, microphthalmia, and facial dysmorphism. {ECO:0000269|PubMed:27018474}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies (NEDITPO) [MIM:619995]: An autosomal recessive disorder characterized by characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus. {ECO:0000269|PubMed:35087184}. Note=The disease may be 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 (PubMed:19417104). Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8 (PubMed:19417104). Plays a role in brain, heart, and eye development (By similarity). {ECO:0000250|UniProtKB:Q9DB90, ECO:0000269|PubMed:19417104}.
uniprot
proteins
mass_dalton
57651
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by SMG1. {ECO:0000269|PubMed:19417104}.
uniprot
proteins
protein_family
SMG9 family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19417104
uniprot
proteins
pubmed
19690332
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
24275569
uniprot
proteins
pubmed
25220460
uniprot
proteins
pubmed
27018474
uniprot
proteins
pubmed
33205750
uniprot
proteins
pubmed
35087184
uniprot
proteins
sequence_length
520
uniprot
proteins