GON7
entrez
84520
canonical
uniprot
Q9BXV9
canonical
ensembl
ENSG00000170270
resolver
ensembl
ENSG00000275619
resolver
ensp
ENSP00000306320
resolver
ensp
ENSP00000478863
resolver
enst
ENST00000306954
resolver
enst
ENST00000621279
resolver
genesymbol
GON7
resolver
hgnc
HGNC:20356
resolver
uniprot
Q0D2N1
resolver
uniprot
Q0P6C4
resolver
uniprot
Q3B7W5
resolver
uniprot_entry
GON7_HUMAN
resolver
uniprot_sec
Q0D2N1
resolver
uniprot_sec
Q0P6C4
resolver
uniprot_sec
Q3B7W5
resolver
amino_acid_sequence
MELLGEYVGQEGKPQKLRVSCEAPGDGDPFQGLLSGVAQMKDMVTELFDPLVQGEVQHRVAAAPDEDLDGDDEDDAEDENNIDNRTNFDGPSAKRPKTPS
uniprot
proteins
disease_involvement
DISEASE: Galloway-Mowat syndrome 9 (GAMOS9) [MIM:619603]: 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, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS9 inheritance is autosomal recessive. {ECO:0000269|PubMed:31481669}. 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:27903914, PubMed:31481669). The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37 (PubMed:27903914, PubMed:31481669). GON7 plays a supporting role to the catalytic subunit OSGEP in the complex (PubMed:27903914, PubMed:31481669). {ECO:0000269|PubMed:31481669, ECO:0000305|PubMed:27903914}.
uniprot
proteins
mass_dalton
10859
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27903914
uniprot
proteins
pubmed
31481669
uniprot
proteins
sequence_length
100
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27903914}.
uniprot
proteins