FTCD
entrez
10841
canonical
uniprot
O95954
canonical
ensembl
ENSG00000160282
resolver
ensp
ENSP00000291670
resolver
ensp
ENSP00000380854
resolver
ensp
ENSP00000380856
resolver
genesymbol
FTCD
resolver
hgnc
HGNC:3974
resolver
uniprot
B9EGD0
resolver
uniprot
Q86V03
resolver
uniprot
Q9HCT4
resolver
uniprot
Q9HCT5
resolver
uniprot
Q9HCT6
resolver
uniprot
Q9UHJ2
resolver
uniprot_entry
FTCD_HUMAN
resolver
uniprot_sec
B9EGD0
resolver
uniprot_sec
Q86V03
resolver
uniprot_sec
Q9HCT4
resolver
uniprot_sec
Q9HCT5
resolver
uniprot_sec
Q9HCT6
resolver
uniprot_sec
Q9UHJ2
resolver
amino_acid_sequence
MSQLVECVPNFSEGKNQEVIDAISGAITQTPGCVLLDVDAGPSTNRTVYTFVGPPECVVEGALNAARVASRLIDMSRHQGEHPRMGALDVCPFIPVRGVSVDECVLCAQAFGQRLAEELDVPVYLYGEAARMDSRRTLPAIRAGEYEALPKKLQQADWAPDFGPSSFVPSWGATATGARKFLIAFNINLLGTKEQAHRIALNLREQGRGKDQPGRLKKVQGIGWYLDEKNLAQVSTNLLDFEVTALHTVYEETCREAQELSLPVVGSQLVGLVPLKALLDAAAFYCEKENLFILEEEQRIRLVVSRLGLDSLCPFSPKERIIEYLVPERGPERGLGSKSLRAFVGEVGARSAAPGGGSVAAAAAAMGAALGSMVGLMTYGRRQFQSLDTTMRRLIPPFREASAKLTTLVDADAEAFTAYLEAMRLPKNTPEEKDRRTAALQEGLRRAVSVPLTLAETVASLWPALQELARCGNLACRSDLQVAAKALEMGVFGAYFNVLINLRDITDEAFKDQIHHRVSSLLQEAKTQAALVLDCLETRQE
uniprot
proteins
disease_involvement
DISEASE: Glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]: Autosomal recessive disorder. Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and intellectual disability. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities. {ECO:0000269|PubMed:12815595}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.2.5
uniprot
proteins
ec_number
4.3.1.4
uniprot
proteins
function
FUNCTION: Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool. {ECO:0000269|PubMed:12815595}.; FUNCTION: Binds and promotes bundling of vimentin filaments originating from the Golgi. {ECO:0000250|UniProtKB:O88618}.
uniprot
proteins
mass_dalton
58927
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-histidine degradation into L-glutamate; L-glutamate from N-formimidoyl-L-glutamate (transferase route): step 1/1. {ECO:0000269|PubMed:12815595}.
uniprot
proteins
protein_family
Cyclodeaminase/cyclohydrolase family; Formiminotransferase family
uniprot
proteins
pubmed
10029623
uniprot
proteins
pubmed
10773664
uniprot
proteins
pubmed
12815595
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16534631
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
541
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9YH58}. Golgi apparatus {ECO:0000250|UniProtKB:Q9YH58}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:16534631}. Note=More abundantly located around the mother centriole. {ECO:0000269|PubMed:16534631}.
uniprot
proteins