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FTCD Gene

protein-coding   GIFtS: 60
GCID: GC21M047556

Formimidoyltransferase Cyclodeaminase

(Previous name: formiminotransferase cyclodeaminase)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Formimidoyltransferase Cyclodeaminase1 2     formimidoyltransferase-cyclodeaminase2
Formiminotransferase Cyclodeaminase1 2     formiminotransferase-cyclodeaminase2
LCHC12 3     Formiminotransferase-cyclodeaminase3
Human Formiminotransferase Cyclodeaminase, EC 4.3.1.411     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FTCD Gene:
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)

GeneCards Summary for FTCD Gene:
FTCD (formimidoyltransferase cyclodeaminase) is a protein-coding gene. Diseases associated with FTCD include glutamate formiminotransferase deficiency, and autoimmune hepatitis. GO annotations related to this gene include glutamate formimidoyltransferase activity and folic acid binding. An important paralog of this gene is FTCDNL1.

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)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  NC_018932.2  NT_187626.1  
Regulatory elements:
   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 plasmidFTCD promoter sequence

   Search Chromatin IP Primers for FTCD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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

Explore proteomics data for FTCD at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FTCD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000291670   ENSP00000380856   ENSP00000409015   ENSP00000380854   ENSP00000380851  
     ENSP00000352707   ENSP00000347545  
    Reactome Protein details: O95954

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     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 domains:
    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


    FTCD for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005542folic acid binding IEA--
    GO:0016740transferase activity ----
    GO:0030409glutamate formimidoyltransferase activity IEA--
    GO:0030412formimidoyltetrahydrofolate cyclodeaminase activity EXP--
         
    FTCD for ontologies           About GeneDecksing


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    FTCD_HUMAN, O95954: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Golgi
    apparatus (By similarity). Note=More abundantly located around the mother centriole
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    golgi apparatus2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS10029623
    GO:0005794Golgi apparatus IEA--
    GO:0005814centriole IEA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    FTCD for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for FTCD About    
    See pathways by source

    SuperPathContained pathways About
    1One carbon pool by folate
    One carbon pool by folate0.53
    One Carbon Metabolism0.53
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Histidine metabolism
    Histidine metabolism
    Histidine catabolism0.00
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    5histidine degradation III
    histidine degradation III

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for FTCD
        One Carbon Metabolism
    histidine degradation III

    1 Reactome Pathway for FTCD
        Histidine catabolism


    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

        Pathway & Disease-focused RT2 Profiler PCR Array including FTCD: 

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for FTCD

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

    Selected Interacting proteins for FTCD (O959543 ENSP000002916704) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SETQ011053, ENSP000003617774I2D: score=1 STRING: ENSP00000361777
    GRB14Q144493, ENSP000002639154I2D: score=1 STRING: ENSP00000263915
    TNKS2Q9H2K23, ENSP000003606894I2D: score=1 STRING: ENSP00000360689
    ALDH1L1ENSP000003770834STRING: ENSP00000377083
    ALDH1L2ENSP000002584944STRING: ENSP00000258494
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    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:0008152metabolic process ----
    GO:0019556histidine catabolic process to glutamate and formamide IEA--

    FTCD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FTCD

    Selected 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 inferred 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)



    FTCD for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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 mRNA 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 

    Selected AceView cDNA sequences (see all 85):

    BF115075 AI207307 AF169017 BF196535 AI564084 BI966164 BF515221 BU164982 
    NM_006657 BC052248 AF289021 NM_206965 BM021970 AW272004 AW299789 AI767489 
    AI095639 BC032037 BU727895 BV203082 AW449146 BQ643728 BX100142 BM564235 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    FTCD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FTCD Expression
    About this image


    FTCD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Kidney (Urinary System)
    FTCD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FTCD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.415846
        Pathway & Disease-focused RT2 Profiler PCR Array including FTCD: 
              Amino Acid Metabolism II in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FTCD

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for FTCD gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ftcd1 , 5 formiminotransferase cyclodeaminase1, 5 80.35(n)1
    84.47(a)1
      10 (39.25 cM)5
    143171  NM_080845.21  NP_543121.11 
     765756485 
    chicken
    (Gallus gallus)
    Aves FTCD1 formiminotransferase cyclodeaminase 70.49(n)
    70.93(a)
      395726  NM_204903.1  NP_990234.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    70(a)
    many ↔ many
    1(123116710-123147519)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for FTCD gene
    FTCDNL12  

    FTCD for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for FTCD (see all 838)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289417681,2,,4
    CGlutamate formiminotransferase deficiency (FIGLU-URIA)4 pathogenic147571859(-) ACAGTC/TGCCGG 4 R C mis1 ese30--------
    VAR_0158884
    Glutamate formiminotransferase deficiency (FIGLU-URIA)4--see VAR_0158882 R P mis40--------
    rs1194690151,2
    Cpathogenic147570043(-) GCAGCG/CGATCA 4 /P /R mis11Minor allele frequency- C:0.00NA 3752
    rs110890501,2
    C--47555677(+) ccagcG/Attccc 1 -- ds50011Minor allele frequency- A:0.00CSA 1
    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--------

    HapMap Linkage Disequilibrium report for FTCD (47556176 - 47575481 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for FTCD (see all 28):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723899CNV Deletion23290073
    esv2674011CNV Deletion23128226
    esv2723901CNV Deletion23290073
    esv2361731CNV Deletion18987734
    esv2723900CNV Deletion23290073
    nsv821035CNV Duplication20802225
    nsv513580CNV Insertion21212237
    nsv509804CNV Insertion20534489
    esv1494368CNV Insertion17803354
    dgv4813n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): FTCD
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FTCD
    DNA2.0 Custom Variant and Variant Library Synthesis for FTCD

    (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.)
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    OMIM gene information: 606806   
    OMIM disorders: 229100  
    UniProtKB/Swiss-Prot: FTCD_HUMAN, O95954
  • 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 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for FTCD:    
    About MalaCards
    glutamate formiminotransferase deficiency    autoimmune hepatitis    megaloblastic anemia    spina bifida
    rabies    glycogen storage disease    down syndrome    hepatitis c virus
    hepatitis    hepatitis c    mental retardation    hepatocellular carcinoma
    alzheimer's disease    multiple myeloma    myeloma

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

    FTCD for disorders           About GeneDecksing

    3 Novoseek inferred 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)

    Genetic Association Database (GAD): FTCD
    Human Genome Epidemiology (HuGE) Navigator: FTCD (7 documents)

    Export disorders for FTCD gene to outside databases

    (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)
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    PubMed articles for FTCD gene, integrated from 10 sources (see all 47):
    (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. (Cytogenet. Cell Genet. 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. (Gastroenterology 1999)
    3. The molecular basis of glutamate formiminotransferase deficiency. (PubMed id 12815595)1, 2, 9 Hilton J.F....Rosenblatt D.S. (Hum. Mutat. 2003)
    4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PubMed id 19161160)1, 4 Franke B....Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009)
    7. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    8. Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study. (PubMed id 19048631)1, 4 Boyles A.L....Lie R.T. (Genet. Epidemiol. 2009)
    9. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    10. Localization of Golgi 58K protein (formiminotransferase cyclodeaminase) to the centrosome. (PubMed id 16534631)2, 9 Hagiwara H.... Takata K. (Histochem. Cell Biol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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