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

FDFT1 Gene

protein-coding   GIFtS: 66
GCID: GC08P011653

Farnesyl-Diphosphate Farnesyltransferase 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Farnesyl-Diphosphate Farnesyltransferase 11 2     DGPT2 5
Squalene Synthase1 2     ERG92
SQS2 3     Presqualene-Di-Diphosphate Synthase2
SS2 3     Squalene Synthetase2
FPP:FPP Farnesyltransferase2 3     Farnesyl-Diphosphate Farnesyltransferase3
EC 2.5.1.213 8     

External Ids:    HGNC: 36291   Entrez Gene: 22222   Ensembl: ENSG000000794597   OMIM: 1844205   UniProtKB: P372683   

Export aliases for FDFT1 gene to outside databases

Previous GC identifers: GC08P011723 GC08P011524 GC08P011697 GC08P010591


(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 FDFT1 Gene:
This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded
protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of
farnesyl diphosphate in a two-step reaction to form squalene. (provided by RefSeq, Jul 2008)

GeneCards Summary for FDFT1 Gene: 
FDFT1 (farnesyl-diphosphate farnesyltransferase 1) is a protein-coding gene. Diseases associated with FDFT1 include keratolytic winter erythema, and smith-lemli-opitz syndrome, and among its related super-pathways are Cholesterol biosynthesis and Activation of Gene Expression by SREBP (SREBF). GO annotations related to this gene include oxidoreductase activity and squalene synthase activity.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_077531.4  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FDFT1 gene promoter:
         TBP   ER-alpha   AML1a   Lmo2   XBP-1   STAT5A   CREB   POU2F1a   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FDFT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FDFT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FDFT1


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

Entrez Gene cytogenetic band: 8p23.1-p22   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23.1-p22

FDFT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FDFT1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P011653:  view genomic region     (about GC identifiers)

Start:
11,653,082 bp from pter      End:
11,696,818 bp from pter
Size:
43,737 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FDFT_HUMAN, P37268 (See protein sequence)
Recommended Name: Squalene synthase  
Size: 417 amino acids; 48115 Da
Cofactor: Magnesium
Subunit: Monomer (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
6/11 PDB 3D structures from and Proteopedia for FDFT1 (see all 11):
1EZF (3D)        3ASX (3D)        3LEE (3D)        3Q2Z (3D)        3Q30 (3D)        3V66 (3D)    
Secondary accessions: Q96GT0

Explore the universe of human proteins at neXtProt for FDFT1: NX_P37268

Explore proteomics data for FDFT1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P37268

  • 4/6 DME Specific Peptides for FDFT1 (P37268) (see all 6)
     SRSFAAVI  SLKTCYKYL  FYLVLRALDT  FLQKTNIIRD 

    FDFT1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FDFT1 Protein Expression
    REFSEQ proteins: NP_004453.3  
    ENSEMBL proteins: 
     ENSP00000431852   ENSP00000220584   ENSP00000390367   ENSP00000433985   ENSP00000432551  
     ENSP00000434770   ENSP00000434714   ENSP00000431749   ENSP00000432331   ENSP00000435900  
     ENSP00000431649   ENSP00000436069   ENSP00000444248  
    Reactome Protein details: P37268
    Human Recombinant Protein Products for FDFT1: 
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    Cloud-Clone Corp. Proteins for FDFT1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    FDFT1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: squalene synthase  
    Lanosterol biosynthesis pathway

    4 InterPro protein domains:
     IPR006449 Squal_synth
     IPR002060 Squ/phyt_synthse
     IPR008949 Terpenoid_synth
     IPR019845 Squalene/phytoene_synthase_CS

    Graphical View of Domain Structure for InterPro Entry P37268

    ProtoNet protein and cluster: P37268

    1 Blocks protein domain: IPB002060 Squalene/phytoene synthase

    UniProtKB/Swiss-Prot: FDFT_HUMAN, P37268
    Similarity: Belongs to the phytoene/squalene synthase family


    FDFT1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FDFT_HUMAN, P37268
    Catalytic activity: 2 farnesyl diphosphate + NAD(P)H = squalene + 2 diphosphate + NAD(P)(+)

         Genatlas biochemistry entry for FDFT1:
    farnesyl diphosphate,farnesyltransferase

         Enzyme Number (IUBMB): EC 2.5.1.211 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004310farnesyl-diphosphate farnesyltransferase activity TAS--
    GO:0016491oxidoreductase activity IEA--
    GO:0016740transferase activity ----
    GO:0051996squalene synthase activity IEA--
         
    FDFT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for FDFT1:
     Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fdft1):
     behavior/neurological  embryogenesis  growth/size  mortality/aging  nervous system 
     reproductive system 

    FDFT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Fdft1tm1Yma for FDFT1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for FDFT1 
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    miRNA
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    hsa-miR-3671 hsa-miR-607 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidFDFT1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FDFT1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for FDFT1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1cholesterol biosynthesis III (via desmosterol)
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis III (via desmosterol)0.59
    superpathway of cholesterol biosynthesis0.85
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    Cholesterol biosynthesis0.62
    cholesterol biosynthesis I0.59
    2Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.67
    SREBP signalling0.37
    Activation of Gene Expression by SREBP (SREBF)0.67
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    4Statin Pathway, Pharmacodynamics
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    5Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.74
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    PPARA Activates Gene Expression0.74

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8 BioSystems Pathways for FDFT1 (see all 8)
        Cholesterol biosynthesis
    Statin Pathway
    SREBP signalling
    cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis

    5/8        Reactome Pathways for FDFT1 (see all 8)
        Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    PPARA Activates Gene Expression

    2 PharmGKB Pathways for FDFT1
        Bisphosphonate Pathway, Pharmacodynamics
    Statin Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for FDFT1):
        Metabolic pathways

    UniProtKB/Swiss-Prot: FDFT_HUMAN, P37268
    Pathway: Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 1/3


    FDFT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FDFT1

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

    5/52 Interacting proteins for FDFT1 (P372682, 3 ENSP000002205844) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RUVBL2Q9Y2302, 3, ENSP000002214134MINT-65797 I2D: score=5 STRING: ENSP00000221413
    ANXA5P087582, 3MINT-63431 I2D: score=5 
    ARL6IP1Q150412, 3MINT-64198 I2D: score=5 
    TMEM43Q9BTV42, 3, ENSP000003039924MINT-65338 I2D: score=5 STRING: ENSP00000303992
    SHPRHQ149N82, 3, ENSP000003564734MINT-64543 I2D: score=4 STRING: ENSP00000356473
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006694steroid biosynthetic process TAS8474436
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0008299isoprenoid biosynthetic process IEA--
    GO:0008610lipid biosynthetic process ----
    GO:0009058biosynthetic process ----

    FDFT1 for ontologies           About GeneDecksing



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

    FDFT1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for FDFT1 (FDFT)

    9 HMDB Compounds for FDFT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Farnesyl pyrophosphate(2E,6E)-Farnesyl diphosphate (see all 15)13058-04-3--
    MagnesiumMagnesium (see all 2)7439-95-4--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Presqualene diphosphate(1alpha,2beta(E),3beta(1E,5E))-Diphosphoric acid mono((2-(4,8-dimethyl-3,7-nonadienyl)-2-methyl-3-(2,6,10-trimethyl-1,5,9-undecatrienyl)cyclopropyl)methyl) ester (see all 4)29849-75-0--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Squalene(E,E,E,E)-Squalene (see all 10)111-02-4--

    10/25 IUPHAR Ligands for FDFT1 (squalene synthase ) (see all 25)    About this table 
    LigandTypeActionAffinityPubmed IDs
    zaragozic acid A
    InhibitorInhibition9.67864626
    J-104118
    InhibitorInhibition9.14--
    [4-(4-phenylphenyl)-1-phosphonatobutyl]phosphonate
    InhibitorInhibition919191557
    E5700
    InhibitorInhibition8.8217371809
    4-[3-(1-benzofuran-5-yloxy)phenyl]-1-phosphonatobutane-1-sulfonate
    InhibitorInhibition8.719191557
    J-104123
    InhibitorInhibition8.6--
    4-[3-(2-benzylphenoxy)phenyl]-1-phosphonatobutane-1-sulfonate
    InhibitorInhibition8.5219191557
    (1-phosphonato-4-{4-[4-(trifluoromethyl)phenyl]phenyl}butyl)phosphonate
    InhibitorInhibition8.5219191557
    4-[2-fluoro-5-(4-fluorophenoxy)phenyl]-1-phosphonatobutane-1-sulfonate
    InhibitorInhibition8.419191557
    4-[3-(2-fluorophenoxy)phenyl]-1-phosphonatobutane-1-sulfonate
    InhibitorInhibition8.319191557

    10/32 Novoseek inferred chemical compound relationships for FDFT1 gene (see all 32)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    squalene 98.3 332 19054015 (6), 7892265 (5), 8561474 (4), 12735986 (4) (see all 99)
    farnesyl diphosphate 93.2 65 9113105 (3), 10677224 (3), 16899796 (2), 10896663 (2) (see all 37)
    dehydrosqualene 91.8 2 18276850 (1)
    zaragozic acid a 91.6 27 7721822 (4), 8002393 (1), 9869647 (1), 17483544 (1) (see all 7)
    presqualene diphosphate 86.1 16 9869647 (2), 10677224 (2), 16464866 (1), 7721822 (1)
    sterol 82.4 34 9604010 (3), 11008488 (3), 11111077 (2), 17709461 (1) (see all 18)
    lanosterol 79.1 5 18676367 (1), 19753490 (1), 7791529 (1), 19649469 (1)
    mevalonate 78.9 11 17483544 (2), 9869647 (1), 10082320 (1), 19680554 (1) (see all 8)
    quinuclidine 78.3 8 12735986 (2), 17371809 (2), 17709461 (1), 15467236 (1) (see all 5)
    cholesterol 71.7 112 17483544 (6), 19054015 (5), 8561474 (2), 19367148 (2) (see all 58)

    Search CenterWatch for drugs/clinical trials and news about FDFT1 / FDFT

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FDFT1 gene: 
    NM_004462.3  

    Unigene Cluster for FDFT1:

    Farnesyl-diphosphate farnesyltransferase 1
    Hs.593928  [show with all ESTs]
    Unigene Representative Sequence: AK098208
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000530337 ENST00000220584(uc010lsa.1 uc003wui.3 uc011kxe.2 uc011kxf.2 uc011kxg.2 uc011kxh.2 uc011kxi.2 uc011kxj.2 uc022ary.1)
    ENST00000446331 ENST00000443614 ENST00000525283 ENST00000525607 ENST00000529464
    ENST00000525900 ENST00000525571 ENST00000527045 ENST00000528812(uc010lsb.3)
    ENST00000525551 ENST00000530664 ENST00000525954 ENST00000531733 ENST00000531249
    ENST00000532266 ENST00000528643(uc011kxk.2)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidFDFT1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK057726.1 AK098208.1 AK098682.1 AK293545.1 AK296043.1 AK297868.1 AK300059.1 AK300245.1 
    AK301617.1 AK311246.1 AK311362.1 AK315993.1 AK316033.1 AK316182.1 AK316351.1 AK316531.1 
    AK316534.1 AY007159.1 BC003573.1 BC009251.2 BC029641.1 BC034440.1 BT006704.1 CR457033.1 
    L06070.1 L06105.1 S76822.1 X69141.1 

    24/53 DOTS entries (see all 53):

    DT.101964451  DT.453797  DT.100887604  DT.100887594  DT.95374208  DT.100887599  DT.95374209  DT.100694234 
    DT.100887605  DT.95374206  DT.120646794  DT.100039024  DT.100887593  DT.100887586  DT.95374186  DT.95374195 
    DT.100031965  DT.100887574  DT.120646601  DT.40113157  DT.100887583  DT.96086667  DT.100887569  DT.100887579 

    24/1028 AceView cDNA sequences (see all 1028):

    AV645471 BG748865 BU526602 CR602686 BM802553 BU147037 BQ956996 CR618448 
    AA775101 BQ009090 BQ772760 BG032982 AL044761 BU931224 CN484421 BQ649451 
    BX356151 BU675422 CR595860 CR614222 BG938526 CR602602 CR610548 CR604624 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for FDFT1 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for FDFT1

    (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

    FDFT1 expression in normal human tissues (normalized intensities)      FDFT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATCCTACT
    FDFT1 Expression
    About this image


    FDFT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
             brain/midbrain/lateral wall   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 4 entries
             autonomic/sympathetic/ganglion   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Metanephros
             visceral organ/metanephros/calyx   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   

    See FDFT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FDFT1

    SOURCE GeneReport for Unigene cluster: Hs.593928
        SABiosciences Expression via Pathway-Focused PCR Array including FDFT1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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    (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 eukaryotes.

    Orthologs for FDFT1 gene from 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fdft11 , 5 farnesyl diphosphate farnesyl transferase 11, 5 85.23(n)1
    88.62(a)1
      14 (33.24 cM)5
    141371  NM_010191.21  NP_034321.21 
     631451535 
    chicken
    (Gallus gallus)
    Aves FDFT11 farnesyl-diphosphate farnesyltransferase 1 75.54(n)
    76.76(a)
      422038  NM_001039294.1  NP_001034383.1 
    lizard
    (Anolis carolinensis)
    Reptilia FDFT16
    --
    (see all 6)
    --
    73(a)
    68(a)
    (see all 6)
    many → 1
    many → 1
    (see all 6)
    GL343309.1(147478-174357)
    GL343704.1(87009-112621)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.132572 Transcribed sequence with moderate similarity to protein more 77.17(n)    BX725175.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-107c13.21 si:ch73-107c13.2 67.16(n)
    69.98(a)
      571911  NM_001202525.1  NP_001189454.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG9(YHR190W)4
    ERG91
    Farnesyl-diphosphate farnesyl transferase (squalene more4
    Erg9p1
    50.6(n)1
    49.4(a)1
      8(484845-486179)4
    8565971, 4  NP_012060.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SQS11 Squalene synthase 50.64(n)
    44.47(a)
      829616  NM_119630.3  NP_195190.1 
    rice
    (Oryza sativa)
    Liliopsida AK063341.12   -- 73.02(n)    AK063341.1 


    ENSEMBL Gene Tree for FDFT1 (if available)
    TreeFam Gene Tree for FDFT1 (if available)

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

    (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) 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

    10/1666 SNPs in FDFT1 are shown (see all 1666)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0117864
    ----see VAR_0117862 K R mis40--------
    rs1473764671,2
    --11658255(+) GTCTTG/TGAATA 1 -- us2k10--------
    rs284757401,2
    C,F--11658313(+) AGGAAG/AGTCTT 1 -- us2k1 trp31Minor allele frequency- A:0.00CSA 1
    rs775129311,2
    C,F--11658332(+) AACCTG/CTACTT 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs1895536471,2
    --11658355(+) CGTCAC/TGGCTG 1 -- us2k10--------
    rs1807516691,2
    --11658357(+) TCATGG/TCTGGA 1 -- us2k10--------
    rs1165670411,2
    F--11658369(+) ACTAAG/CTTTTT 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1472230121,2
    --11658408(+) GGTGGG/TGAGTG 1 -- us2k10--------
    rs1865536011,2
    --11658420(+) GAGGGA/CTGTCC 1 -- us2k10--------
    rs1405803111,2
    --11658439(+) GGACTG/TAGGAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FDFT1 (11653082 - 11696818 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for FDFT1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv525089CNV Loss19592680
    nsv890363CNV Loss21882294
    nsv890369CNV Loss21882294
    nsv890368CNV Loss21882294
    nsv890362CNV Loss21882294
    nsv890364CNV Loss21882294
    nsv890361CNV Gain21882294
    nsv890366CNV Gain21882294
    nsv890367CNV Gain21882294
    nsv890365CNV Gain21882294


    Human Gene Mutation Database (HGMD): FDFT1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FDFT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 184420    OMIM disorders: --

    20/29 diseases for FDFT1 (see all 29):    About MalaCards
    keratolytic winter erythema    smith-lemli-opitz syndrome    mevalonic aciduria    sitosterolemia
    obesity, association with    traumatic brain injury    sleep apnea    brain injury
    fatty liver disease    hypercholesterolemia    obesity    leishmaniasis
    liver disease    esophageal adenocarcinoma    coronary heart disease    cytochrome p450
    nasopharyngitis    myopathy    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for FDFT1:
    Smith-Lemli-Opitz syndrome

    FDFT1 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for FDFT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    smith-lemli-opitz syndrome 66.5 1 11592808 (1)
    hypercholesterolemia 20.6 2 19367148 (1), 19054015 (1)
    myopathy 13.1 1 17599378 (1)
    tumors 3.57 1 9770500 (1)
    hyperlipidemia 0 2 17002264 (2)
    inflammation 0 1 15500389 (1)
    obesity 0 1 19245693 (1)
    cancer 0 5 17483544 (4)

    Genetic Association Database (GAD): FDFT1
    Human Genome Epidemiology (HuGE) Navigator: FDFT1 (14 documents)

    Export disorders for FDFT1 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)
    About This Section

    PubMed articles for FDFT1 gene, integrated from 9 sources (see all 205):
    (articles sorted by number of sources associating them with FDFT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population. (PubMed id 18350552)1, 2, 4, 9 Do R....Engert J.C. (2008)
    2. Conservation between human and fungal squalene synthetases: similarities in structure, function, and regulation. (PubMed id 8474436)1, 2, 9 Robinson G.W....Bishop R.W. (1993)
    3. Crystal structure of human squalene synthase. A key enzyme in cholesterol biosynthesis. (PubMed id 10896663)1, 2, 9 Pandit J.... Harwood H.J. Jr. (2000)
    4. Studies of CTNNBL1 and FDFT1 variants and measures of obesity: analyses of quantitative traits and case-control studies in 18,014 Danes. (PubMed id 19245693)1, 4, 9 Andreasen C.H....Hansen T. (2009)
    5. Expression, purification, and characterization of the human squalene synthase: use of yeast and baculoviral systems. (PubMed id 7864626)1, 2, 9 Soltis D.A....Cornell-Kennon S.A. (1995)
    6. Cloning, expression and characterisation of the cDNA encoding human hepatic squalene synthase, and its relationship to phytoene synthase. (PubMed id 8294001)1, 2, 9 Summers C.... Charles A.D. (1993)
    7. Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population. (PubMed id 17805225)1, 4, 9 Engert J.C....Gaudet D. (2008)
    8. Circadian clock gene polymorphisms in alcohol use dis orders and alcohol consumption. (PubMed id 20554694)1, 4 Kovanen L....Partonen T. (2010)
    9. Genome-wide association study identifies variants ass ociated with histologic features of nonalcoholic Fatty liver disease. (PubMed id 20708005)1, 4 Chalasani N....Rotter J.I. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2222 HGNC: 3629 AceView: FDFT1 Ensembl:ENSG00000079459 euGenes: HUgn2222
    ECgene: FDFT1 Kegg: 2222 H-InvDB: FDFT1

    (According to HUGE)
    About This Section
      --

    (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 FDFT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FDFT1 gene:
    Search GeneIP for patents involving FDFT1

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



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    About This Section

     
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