LAGE3
entrez
8270
canonical
uniprot
Q14657
canonical
ensembl
ENSG00000196976
resolver
ensp
ENSP00000349923
resolver
enst
ENST00000357360
resolver
genesymbol
LAGE3
resolver
genesymbol_syn
DXS9879E
resolver
genesymbol_syn
ESO3
resolver
genesymbol_syn
ITBA2
resolver
hgnc
HGNC:26058
resolver
uniprot
Q5HY39
resolver
uniprot
Q8IZ78
resolver
uniprot_entry
LAGE3_HUMAN
resolver
uniprot_sec
Q5HY39
resolver
uniprot_sec
Q8IZ78
resolver
amino_acid_sequence
MRDADADAGGGADGGDGRGGHSCRGGVDTAAAPAGGAPPAHAPGPGRDAASAARGSRMRPHIFTLSVPFPTPLEAEIAHGSLAPDAEPHQRVVGKDLTVSGRILVVRWKAEDCRLLRISVINFLDQLSLVVRTMQRFGPPVSR
uniprot
proteins
disease_involvement
DISEASE: Galloway-Mowat syndrome 2, X-linked (GAMOS2) [MIM:301006]: 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:28805828}. Note=The disease is caused by variants affecting the gene represented in this entry.
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 (PubMed:22912744, PubMed:27903914). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:22912744, PubMed:27903914). LAGE3 functions as a dimerization module for the complex (PubMed:22912744, PubMed:27903914). {ECO:0000305|PubMed:22912744, ECO:0000305|PubMed:27903914}.
uniprot
proteins
mass_dalton
14804
uniprot
proteins
protein_family
CTAG/PCC1 family
uniprot
proteins
pubmed
12384295
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22912744
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27903914
uniprot
proteins
pubmed
28805828
uniprot
proteins
pubmed
31481669
uniprot
proteins
pubmed
8786131
uniprot
proteins
sequence_length
143
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28805828}. Nucleus {ECO:0000269|PubMed:22912744, ECO:0000269|PubMed:27903914, ECO:0000269|PubMed:28805828}.
uniprot
proteins