FTCD (formimidoyltransferase cyclodeaminase)

2016-10-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
LCHC1
FUSION GENES

Other Information

Locus ID:

NCBI: 10841
MIM: 606806
HGNC: 3974
Ensembl: ENSG00000160282

Variants:

dbSNP: 10841
ClinVar: 10841
TCGA: ENSG00000160282
COSMIC: FTCD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160282ENST00000291670O95954
ENSG00000160282ENST00000397743B7WPK3
ENSG00000160282ENST00000397746O95954
ENSG00000160282ENST00000397748O95954
ENSG00000160282ENST00000446405H7C315

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Histidine metabolismKEGGko00340
One carbon pool by folateKEGGko00670
Histidine metabolismKEGGhsa00340
One carbon pool by folateKEGGhsa00670
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Histidine catabolismREACTOMER-HSA-70921
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
335550402021p97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly.10
335550402021p97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly.10
307840162020The Diagnostic Value of Arginase-1, FTCD, and MOC-31 Expression in Early Detection of Hepatocellular Carcinoma (HCC) and in Differentiation Between HCC and Metastatic Adenocarcinoma to the Liver.12
307840162020The Diagnostic Value of Arginase-1, FTCD, and MOC-31 Expression in Early Detection of Hepatocellular Carcinoma (HCC) and in Differentiation Between HCC and Metastatic Adenocarcinoma to the Liver.12
308933142019A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh.15
308933142019A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh.15
299273012018A functional promoter variant of the human formimidoyltransferase cyclodeaminase (FTCD) gene is associated with working memory performance in young but not older adults.3
299273012018A functional promoter variant of the human formimidoyltransferase cyclodeaminase (FTCD) gene is associated with working memory performance in young but not older adults.3
291786372017Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.6
291786372017Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.6
246860832014Using a yeast two-hybrid system to identify FTCD as a new regulator for HIF-1α in HepG2 cells.10
246860832014Using a yeast two-hybrid system to identify FTCD as a new regulator for HIF-1α in HepG2 cells.10
202090572010Scyl1 regulates Golgi morphology.35
204949802010Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15

Citation

Dessen P

FTCD (formimidoyltransferase cyclodeaminase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56429/ftcd-(formimidoyltransferase-cyclodeaminase)