OSGEP
entrez
55644
canonical
uniprot
Q9NPF4
canonical
ensembl
ENSG00000092094
resolver
ensembl
ENSG00000291794
resolver
ensp
ENSP00000206542
resolver
ensp
ENSP00000517336
resolver
enst
ENST00000206542
resolver
enst
ENST00000708774
resolver
genesymbol
OSGEP
resolver
genesymbol_syn
GCPL1
resolver
hgnc
HGNC:18028
resolver
uniprot
Q6IAC3
resolver
uniprot_entry
OSGEP_HUMAN
resolver
uniprot_sec
Q6IAC3
resolver
amino_acid_sequence
MPAVLGFEGSANKIGVGVVRDGKVLANPRRTYVTPPGTGFLPGDTARHHRAVILDLLQEALTESGLTSQDIDCIAYTKGPGMGAPLVSVAVVARTVAQLWNKPLVGVNHCIGHIEMGRLITGATSPTVLYVSGGNTQVIAYSEHRYRIFGETIDIAVGNCLDRFARVLKISNDPSPGYNIEQMAKRGKKLVELPYTVKGMDVSFSGILSFIEDVAHRMLATGECTPEDLCFSLQETVFAMLVEITERAMAHCGSQEALIVGGVGCNVRLQEMMATMCQERGARLFATDERFCIDNGAMIAQAGWEMFRAGHRTPLSDSGVTQRYRTDEVEVTWRD
uniprot
proteins
disease_involvement
DISEASE: Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729]: A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. {ECO:0000269|PubMed:28272532, ECO:0000269|PubMed:28805828, ECO:0000269|PubMed:31481669}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.234
uniprot
proteins
function
FUNCTION: Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. OSGEP likely plays a direct catalytic role in this reaction, but requires other protein(s) of the complex to fulfill this activity. {ECO:0000255|HAMAP-Rule:MF_03180, ECO:0000269|PubMed:28272532, ECO:0000269|PubMed:28805828, ECO:0000305|PubMed:22912744, ECO:0000305|PubMed:27903914}.
uniprot
proteins
mass_dalton
36427
uniprot
proteins
protein_family
KAE1 / TsaD family
uniprot
proteins
pubmed
12039036
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22912744
uniprot
proteins
pubmed
27903914
uniprot
proteins
pubmed
28272532
uniprot
proteins
pubmed
28805828
uniprot
proteins
pubmed
31481669
uniprot
proteins
sequence_length
335
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03180, ECO:0000269|PubMed:28805828}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03180, ECO:0000269|PubMed:22912744, ECO:0000269|PubMed:28805828}.
uniprot
proteins