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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FTCD Gene

protein-coding   GIFtS: 60
GCID: GC21M047556

formiminotransferase cyclodeaminase
 Explore 12 diseases affiliated with
FTCD via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FTCD    

Aliases
for FTCD gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
Aliases
Formiminotransferase Cyclodeaminase1 2     Formimidoyltransferase-Cyclodeaminase1
LCHC12 3     Formiminotransferase-Cyclodeaminase1
Human Formiminotransferase Cyclodeaminase, EC 4.3.1.411     Formiminotransferase-Cyclodeaminase1
Formimidoyltransferase Cyclodeaminase2     

External Ids:    HGNC: 39741   Entrez Gene: 108412   Ensembl: ENSG000001602827   OMIM: 6068065   UniProtKB: O959543   

Export aliases for FTCD gene to outside databases

Previous GC identifers: GC21M044062 GC21M046412 GC21M046380 GC21M032937


Summaries
for FTCD gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for FTCD:
The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a
metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with
glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this
gene.(provided by RefSeq, Dec 2009)

UniProtKB/Swiss-Prot: FTCD_HUMAN, O95954
Function: Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon
units from formiminoglutamate to the folate pool
Function: Binds and promotes bundling of vimentin filaments originating from the Golgi (By similarity)




Genomic Views
for FTCD gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011515.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FTCD gene promoter:
         COUP-TF1   COUP   Olf-1   Tal-1beta   E47   HEN1   CREB   COUP-TF   deltaCREB   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FTCD promoter sequence

   Search SABiosciences Chromatin IP Primers for FTCD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FTCD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
FTCD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FTCD gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M047556:   GeneLoc Nature:405,311-319
Start:
 47,556,176 bp from pter       33,062,659 bp from centromere
End:
 47,575,481 bp from pter 33,081,949 bp from centromere
Size:
 19,306 bases 19,291 bases
Orientation:
 minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: U91541
genomic clones: PP8G4 to 21B35B20

Proteins
for FTCD gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: FTCD_HUMAN, O95954 (See protein sequence)
Recommended Name: Formimidoyltransferase-cyclodeaminase  
Size: 541 amino acids; 58927 Da
Cofactor: Pyridoxal phosphate
Subunit: Homooctamer, including four polyglutamate binding sites. The subunits are arranged as a tetramer of dimers,
and form a planar ring-shaped structure (By similarity)
Subcellular location: Cytoplasm, cytoskeleton, centrosome, centriole. Golgi apparatus (By similarity). Note=More
abundantly located around the mother centriole
Secondary accessions: B9EGD0 Q86V03 Q9HCT4 Q9HCT5 Q9HCT6 Q9UHJ2
Alternative splicing: 4 isoforms:  O95954-1   O95954-2   O95954-3   O95954-4   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for FTCD: NX_O95954

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95954

    • FTCD Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_006648.1  NP_996848.1  

    ENSEMBL proteins: 
     ENSP00000291670   ENSP00000380856   ENSP00000409015   ENSP00000380854   ENSP00000380851  
     ENSP00000352707   ENSP00000347545  
    Reactome Protein details: O95954
    Human Recombinant Protein Products: 
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    Uscn Proteins for FTCD

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS10029623
    GO:0005794Golgi apparatus IEA--
    GO:0005814centriole IEA--
    GO:0005829cytosol TAS--


    FTCD for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for FTCD gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FTCD for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR012886 Formiminotransferase_N
     IPR004227 Formiminotransferase_cat
     IPR007044 Cyclodeamin/CycHdrlase
     IPR013802 Formiminotransferase_C
     IPR022384 FormiminoTrfase_N/C_subdom

    Graphical View of Domain Structure for InterPro Entry O95954

    ProtoNet protein and cluster: O95954

    2 Blocks protein families:
    IPB004227 Formiminotransferase
    IPB007044 Formiminotransferase-cyclodeaminase


    UniProtKB/Swiss-Prot: FTCD_HUMAN, O95954
    Similarity: In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family
    Similarity: In the N-terminal section; belongs to the formiminotransferase family


    Function
    for FTCD gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: FTCD_HUMAN, O95954
    Function: Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon
    units from formiminoglutamate to the folate pool
    Function: Binds and promotes bundling of vimentin filaments originating from the Golgi (By similarity)
    Catalytic activity: 5-formimidoyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formimidoyl-L-glutamate
    Catalytic activity: 5-formyltetrahydrofolate + L-glutamate = tetrahydrofolate + N-formyl-L-glutamate
    Catalytic activity: 5-formimidoyltetrahydrofolate = 5,10-methenyltetrahydrofolate + NH(3)

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005542folic acid binding IEA--
    GO:0016740transferase activity ----
    GO:0030409glutamate formimidoyltransferase activity IEA--
    GO:0030412formimidoyltetrahydrofolate cyclodeaminase activity EXP--


    FTCD for ontologies           About GeneDecksing



    Pathways & Interactions
    for FTCD gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    2One Carbon Metabolism
    		One Carbon Metabolism1.00
    		One carbon pool by folate0.52
    3Histidine catabolism
    		Histidine catabolism1.00
    		histidine degradation III0.57
    4Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    5Histidine metabolism
    		Histidine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for FTCD 
        One Carbon Metabolism
    histidine degradation III

    3        Reactome Pathways for FTCD
        Histidine catabolism
    Metabolism
    Metabolism of amino acids and derivatives


    3         Kegg Pathways  (Kegg details for FTCD):
        Histidine metabolism
    One carbon pool by folate
    Metabolic pathways

    UniProtKB/Swiss-Prot: FTCD_HUMAN, O95954
    Pathway: Amino-acid degradation; L-histidine degradation into L-glutamate; L-glutamate from N-formimidoyl-L-glutamate
    (transferase route): step 1/1
    Pathway: One-carbon metabolism; tetrahydrofolate interconversion


    FTCD for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FTCD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/36 Interacting proteins for FTCD (O959543 ENSP000002916704) via UniProtKB, MINT, STRING, and/or I2D (see all 36)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB14Q144493, ENSP000002639154I2D: score=1 STRING: ENSP00000263915
    TNKS2Q9H2K23, ENSP000003606894I2D: score=1 STRING: ENSP00000360689
    SETQ011053I2D: score=1 
    ALDH1L1ENSP000003770834STRING: ENSP00000377083
    ALDH1L2ENSP000002584944STRING: ENSP00000258494
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006548histidine catabolic process TAS--
    GO:0006760folic acid-containing compound metabolic process TAS10029623
    GO:0007010cytoskeleton organization IEA--
    GO:0019556histidine catabolic process to glutamate and formamide IEA--
    GO:0019557histidine catabolic process to glutamate and formate IEA--


    FTCD for ontologies           About GeneDecksing



    Drugs & Compounds
    for FTCD gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FTCD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FTCD

    10/11 HMDB Compounds for FTCD (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    5,10-Methenyltetrahydrofolic acid5,10-Methenyltetrahydrofolate (see all 13)7444-29-3--
    5-Formiminotetrahydrofolic acid5-formimidoyltetrahydrofolate (see all 2)2311-81-1--
    AmmoniaNH3 (see all 31)7664-41-7--
    FamotidineAmfamox (see all 83)76824-35-6--
    Folic acidAcifolic (see all 37)59-30-3--
    Formiminoglutamic acidFormimino-glu (see all 11)816-90-0--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    N-Formyl-L-glutamic acid(2S)-2-(formylamino)pentanedioate (see all 6)1681-96-5--
    N5-Formyl-THF(6R,S)-5-Formyltetrahydrofolate (see all 21)58-05-9--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    4 DrugBank Compounds for FTCD    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Tetrahydrofolic acid5,6,7,8-tetrahydrofolate (see all 3)135-16-0targetcofactor9677387 11488596 10329787 10673422
    5-Formyl-5,6,7,8-Tetrahydrofolate-- 58-05-9target--17139284 17016423 10592235
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--9837973 17139284 17016423
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17139284 17016423

    4 Novoseek chemical compound relationships for FTCD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    folate 47.8 6 10329787 (1), 7654689 (1), 10773664 (1), 12815595 (1) (see all 5)
    leucovorin 37.8 1 10673422 (1)
    histidine 34.9 2 10773664 (1), 15272307 (1)
    glutamate 29.6 15 10773664 (3), 12815595 (3), 16421867 (1), 15272307 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about FTCD 

    Transcripts
    for FTCD gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for FTCD gene (2 alternative transcripts): 
    NM_006657.2  NM_206965.1  

    Unigene Cluster for FTCD:

    Formiminotransferase cyclodeaminase
    Hs.415846  [show with all ESTs]
    Unigene Representative Sequence: AF289022
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483568 ENST00000460011(uc002zie.3) ENST00000498355(uc010gqg.1)
    ENST00000291670(uc002zif.3) ENST00000397748(uc002zig.3) ENST00000446405
    ENST00000397746(uc002zih.3) ENST00000397743(uc010gqf.3) ENST00000494498
    ENST00000488577 ENST00000480950 ENST00000469240 ENST00000359679 ENST00000355384


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    Additional cDNA sequence: 

    AF169017.1 AF289021.1 AF289022.1 AF289023.1 BC032037.1 BC052248.1 BC136383.1 BC136395.1 
    U91541.1 

    10 DOTS entries:

    DT.92420686  DT.75100811  DT.91641243  DT.95374025  DT.107604  DT.107621  DT.92420683  DT.440507 
    DT.40111734  DT.95374022 

    24/85 AceView cDNA sequences (see all 85):

    BF196535 AI564084 BI966164 AW272004 AF289021 AI207307 AF169017 BM021970 
    BF515221 BC052248 BU164982 NM_206965 NM_006657 BF115075 AF289023 AA775892 
    AV655525 BV203082 AF289024 AI636021 BE501992 AW299524 AA378686 BG722443 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for FTCD (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c · 15d ^ 16
    SP1:                    -                                               -     -     -                                         -     -         
    SP2:                    -                                               -     -     -                             -                 -         
    SP3:                                                                    -     -     -                                                         
    SP4:                    -                                               -     -     -                                                         
    SP5:                    -                                               -     -     -     -                                                   


    ECgene alternative splicing isoforms for FTCD

    Expression
    for FTCD gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FTCD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FTCD expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FTCD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FTCD

    SOURCE GeneReport for Unigene cluster: Hs.415846
        SABiosciences Expression via Pathway-Focused PCR Array including FTCD: 
              Amino Acid Metabolism II in human mouse rat

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    In Situ
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    Orthologs
    for FTCD gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for FTCD gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves FTCD1 formiminotransferase cyclodeaminase 70.49(n)
    70.93(a)    		   395726  NM_204903.1  NP_990234.1 
    lizard
    (Anolis carolinensis)    		 Reptilia FTCD6
    		 --
    		 70(a)
    		 1 ↔ 1
    		 1(123116863-123147133)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC644582 hypothetical protein MGC64458 71.71(n)    BC054248.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc636472 formiminotransferase cyclodeaminase 72.33(n)   394052  BC055183.1 


    ENSEMBL Gene Tree for FTCD (if available)
    TreeFam Gene Tree for FTCD (if available) 

    Paralogs
    for FTCD gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FTCD gene
    FONG2  

    FTCD for paralogs           About GeneDecksing



    Genomic Variants
    for FTCD gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/644 NCBI SNPs in FTCD are shown (see all 644)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1194690151,2
    		Cpathogenic47570043(-) GCAGCG/CGATCA 4 /P /R mis11Minor allele frequency- C:0.00NA 3752
    rs1893086321,2
    		--47555704(+) CCAGCA/GTTCCC 1 -- ds50010--------
    rs1808932651,2
    		--47555719(+) AGCCTC/TCCCTC 1 -- ds50010--------
    rs1859408241,2
    		--47555744(+) CCAGCA/GTTCCC 1 -- ds50010--------
    rs1900040581,2
    		--47555771(+) CCAGCC/GTCCCC 1 -- ds50010--------
    rs1430114531,2
    		--47555785(+) CCAGCA/GTTCCC 1 -- ds50010--------
    rs1461855481,2
    		--47555798(+) CCAGCA/CTCCCC 1 -- ds50010--------
    rs1390584311,2
    		--47555800(+) AGCCTC/TCCCTC 1 -- ds50010--------
    rs1494897221,2
    		--47555811(+) CCAGCA/CTTCCC 1 -- ds50010--------
    rs1439674591,2
    		--47555813(+) AGCATC/TCCCTC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for FTCD (47556176 - 47575481 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for FTCD
         2 CNVs: 50789 73664
         1 Indel: 46192
    Human Gene Mutation Database (HGMD): FTCD

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FTCD

    Disorders / Diseases
    for FTCD gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FTCD for disorders           About GeneDecksing

    OMIM gene information: 606806   
    OMIM disorders: 229100  
    UniProtKB/Swiss-Prot: FTCD_HUMAN, O95954
  • Defects in FTCD are the cause of glutamate formiminotransferase deficiency (FIGLU-URIA) [MIM:229100]; also
    • known as formiminoglutamicaciduria (FIGLU-uria). It is an 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 mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in
    the absence of histidine administration, mild developmental delay, and no hematological abnormalities

    12 diseases for FTCD:    About MalaCards
    glutamate formiminotransferase deficiency    glycogen storage disease    spina bifida    megaloblastic anemia
    autoimmune hepatitis    down syndrome    hepatitis c    rabies
    anemia    hepatitis    hepatocellular carcinoma    carcinoma

    1 disease from the University of Copenhagen DISEASES database for FTCD:
    Autoimmune hepatitis

    3 Novoseek disease relationships for FTCD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate formiminotransferase deficiency 98.3 10 12815595 (3), 10773664 (2), 16421867 (1), 15272307 (1)
    hepatitis autoimmune 80.7 7 14697341 (3), 15272307 (2), 10029623 (1)
    tumors 0 3 18571811 (2)

    Human Genome Epidemiology (HuGE) Navigator: FTCD (7 documents)

    Export disorders for FTCD gene to outside databases

    Publications
    for FTCD gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FTCD gene, integrated from 9 sources (see all 46):
    (articles sorted by number of sources associating them with FTCD)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency. (PubMed id 10773664)1, 2, 3, 9 Solans A.... de la Luna S. (2000)
    2. Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis. (PubMed id 10029623)1, 2, 3, 9 Lapierre P.... Alvarez F. (1999)
    3. The molecular basis of glutamate formiminotransferase deficiency. (PubMed id 12815595)1, 2, 9 Hilton J.F....Rosenblatt D.S. (2003)
    4. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
    5. Localization of Golgi 58K protein (formiminotransferase cyclodeaminase) to the centrosome. (PubMed id 16534631)2, 9 Hagiwara H.... Takata K. (2006)
    6. The crystal structure of the formiminotransferase domain of formiminotransferase-cyclodeaminase: implications for substrate channeling in a bifunctional enzyme. (PubMed id 10673422)7, 9 Kohls D....Vrielink A. (2000)
    7. Crystallization and preliminary X-ray analysis of the formiminotransferase domain from the bifunctional enzyme formiminotransferase-cyclodeaminase. (PubMed id 10329787)7, 9 Kohls D....Vrielink A. (1999)
    8. Functional analysis and identification of cis-regulat ory elements of human chromosome 21 gene promoters. (PubMed id 20494980)1 Warnatz H.J....Yaspo M.L. (2010)
    9. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1 Jugessur A....Murray J.C. (2010)
    10. Scyl1 regulates Golgi morphology. (PubMed id 20209057)1 Burman J.L....McPherson P.S. (2010)

    External Searches for FTCD gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FTCD gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10841 HGNC: 3974 AceView: FTCD Ensembl:ENSG00000160282 euGenes: HUgn10841
    ECgene: FTCD Kegg: 10841 H-InvDB: FTCD

    Other Databases showing FTCD gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FTCD gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FTCD Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FTCD gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FTCD gene:
    Search GeneIP for patents involving FTCD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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    About This Section

     
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