ENSG00000160282


Homo sapiens

Features
Gene ID: ENSG00000160282
  
Biological name :FTCD
  
Synonyms : formimidoyltransferase cyclodeaminase / FTCD / O95954
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: -1
Band: q22.3
Gene start: 46136262
Gene end: 46155567
  
Corresponding Affymetrix probe sets: 220604_x_at (Human Genome U133 Plus 2.0 Array)   223702_x_at (Human Genome U133 Plus 2.0 Array)   223979_x_at (Human Genome U133 Plus 2.0 Array)   224299_x_at (Human Genome U133 Plus 2.0 Array)   224300_x_at (Human Genome U133 Plus 2.0 Array)   233741_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000291670
Ensembl peptide - ENSP00000380854
Ensembl peptide - ENSP00000380856
Ensembl peptide - ENSP00000409015
Ensembl peptide - ENSP00000380851
NCBI entrez gene - 10841     See in Manteia.
OMIM - 606806
RefSeq - XM_011529440
RefSeq - XM_006723962
RefSeq - XM_011529434
RefSeq - XM_011529435
RefSeq - XM_011529436
RefSeq - XM_011529437
RefSeq - XM_011529439
RefSeq - NM_001320412
RefSeq - NM_006657
RefSeq - NM_206965
RefSeq - XM_006723961
RefSeq Peptide - NP_996848
RefSeq Peptide - NP_001307341
RefSeq Peptide - NP_006648
swissprot - H7C315
swissprot - O95954
swissprot - B7WPK3
Ensembl - ENSG00000160282
  
Related genetic diseases (OMIM): 229100 - Glutamate formiminotransferase deficiency, 229100
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 FTCDENSGALG00000006131Gallus gallus
 FtcdENSMUSG00000001155Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
E5RQL4 / FTCDNL1 / formiminotransferase cyclodeaminase N-terminal likeENSG000002261245


Protein motifs (from Interpro)
Interpro ID Name
 IPR004227  Formiminotransferase catalytic domain
 IPR007044  Cyclodeaminase/cyclohydrolase
 IPR012886  Formiminotransferase, N-terminal subdomain
 IPR013802  Formiminotransferase, C-terminal subdomain
 IPR022384  Formiminotransferase catalytic domain superfamily
 IPR036178  Formimidoyltransferase-cyclodeaminase-like superfamily
 IPR037064  Formiminotransferase, N-terminal subdomain superfamily
 IPR037070  Formiminotransferase, C-terminal subdomain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006547 histidine metabolic process IEA
 biological_processGO:0006548 histidine catabolic process TAS
 biological_processGO:0006760 folic acid-containing compound metabolic process TAS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0019556 histidine catabolic process to glutamate and formamide IEA
 biological_processGO:0019557 histidine catabolic process to glutamate and formate IEA
 biological_processGO:0035999 tetrahydrofolate interconversion IEA
 biological_processGO:0044237 cellular metabolic process IEA
 cellular_componentGO:0000139 Golgi membrane ISS
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005783 endoplasmic reticulum ISS
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment ISS
 cellular_componentGO:0005794 Golgi apparatus ISS
 cellular_componentGO:0005814 centriole IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0030868 smooth endoplasmic reticulum membrane IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005542 folic acid binding IEA
 molecular_functionGO:0008017 microtubule binding ISS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0030407 formimidoyltransferase activity ISS
 molecular_functionGO:0030409 glutamate formimidoyltransferase activity IEA
 molecular_functionGO:0030412 formimidoyltetrahydrofolate cyclodeaminase activity EXP


Pathways (from Reactome)
Pathway description
Histidine catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001510 Growth retardation 
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 HP:0001889 Megaloblastic anemia 
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 HP:0003355 Abnormal urinary amino-acid findings 
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 HP:0003612 Positive ferric chloride test 
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 HP:0004821 Hypersegmentation of neutrophil nuclei 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000160282 FTCD / O95954 / formimidoyltransferase cyclodeaminase  / complex






 

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