Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

FDFT1 Gene

protein-coding   GIFtS: 63
GCID: GC08P011653

farnesyl-diphosphate farnesyltransferase 1
 Explore 29 diseases affiliated with
FDFT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FDFT1    

Aliases
for FDFT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Farnesyl-Diphosphate Farnesyltransferase 11 2     ERG92
SQS2 3     Presqualene-Di-Diphosphate Synthase2
SS2 3     Squalene Synthase2
FPP:FPP Farnesyltransferase2 3     Squalene Synthetase2
EC 2.5.1.213 8     Farnesyl-Diphosphate Farnesyltransferase3
DGPT2 5     

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


Summaries
for FDFT1 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 FDFT1:
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)




Genomic Views
for FDFT1 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)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_077531.4  
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

Proteins
for FDFT1 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: FDFT1
    OriGene Protein Over-expression Lysate: FDFT1
    OriGene Custom Protein Services for FDFT1 
    GenScript Custom Purified and Recombinant Proteins Services for FDFT1
    Novus Biologicals FDFT1 Protein
    Novus Biologicals FDFT1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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:0005792microsome ----
    GO:0016021integral to membrane IEA--


    FDFT1 for ontologies           About GeneDecksing



    FDFT1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 3): FDFT1
    OriGene Custom Antibody Services for FDFT1 
    GenScript Custom Superior Antibodies Services for FDFT1
    Novus Biologicals FDFT1 Antibodies
    Abcam antibodies for FDFT1 
    Uscn Antibodies for FDFT1
    ThermoFisher Antibody for FDFT1

    Assay Products for FDFT1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FDFT1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for FDFT1

    Protein Domains /
    Families
    for FDFT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    FDFT1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: IPB002060 Squalene/phytoene synthase

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


    Function
    for FDFT1 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: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: FDFT1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FDFT1
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate FDFT1:
    hsa-miR-3671 hsa-miR-607 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmid: FDFT1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FDFT1 (see all 7)
    OriGene shRNA RFP: FDFT1
    OriGene siRNA: FDFT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FDFT1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for FDFT1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FDFT1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FDFT1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: FDFT1 (NM_004462)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FDFT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FDFT1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for FDFT1
    Search LifeMap BioReagents cell lines for FDFT1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FDFT1

    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


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

    Animal Models:
         Mouse knock-out Fdft1tm1Yma for FDFT1
         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


    Pathways & Interactions
    for FDFT1 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 - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1cholesterol biosynthesis III (via desmosterol)
    		cholesterol biosynthesis III (via desmosterol)1.00
    		cholesterol biosynthesis II (via 24,25-dihydrolanosterol)1.00
    		cholesterol biosynthesis I1.00
    		Steroid biosynthesis0.60
    2Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    		Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)1.00
    		Fatty acid, triacylglycerol, and ketone body metabolism0.52
    		PPARA Activates Gene Expression0.74
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    		Regulation of Cholesterol Biosynthesis by SREBP (SREBF)1.00
    		SREBP signalling0.46
    		Activation of Gene Expression by SREBP (SREBF)0.67
    4Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    5Cholesterol biosynthesis
    		Cholesterol biosynthesis1.00
    		Cholesterol Biosynthesis0.68
    		superpathway of cholesterol biosynthesis0.81

    Pathway sources
    See GeneCards unified pathways
    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

    5/9        Reactome Pathways for FDFT1 (see all 9)
        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

    2         Kegg Pathways  (Kegg details for FDFT1):
        Steroid biosynthesis
    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



    Drugs & Compounds
    for FDFT1 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

    FDFT1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for FDFT1

    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--
    10/32 Novoseek 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 

    Transcripts
    for FDFT1 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 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
    Products:             		 OriGene 3'-UTR Clone: FDFT1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FDFT1
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate FDFT1:
    hsa-miR-3671 hsa-miR-607 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmid: FDFT1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FDFT1 (see all 7)
    OriGene shRNA RFP: FDFT1
    OriGene siRNA: FDFT1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FDFT1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FDFT1 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FDFT1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: FDFT1 (NM_004462)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FDFT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FDFT1 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FDFT1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FDFT1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FDFT1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FDFT1

    Additional cDNA 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 

    24/55 DOTS entries (see all 55):

    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.40113157  DT.120646601  DT.100887583  DT.96086667  DT.100887579  DT.100887569 

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

    BU184260 CR610871 AU280319 CR602308 BM511862 BM512088 N76776 CN479260 
    BM830068 CR601829 AA523979 BE181062 BQ889420 AA380648 BM713399 AA351267 
    BM662420 AA402018 AU076516 CR622798 T87002 BM973995 BM996994 BQ691789 

    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

    Expression
    for FDFT1 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

    FDFT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGATCCTACT

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

    FDFT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    BrainMidbrain tegmentumBrain
    EyeLensEye
    Primitive StreakNotochordPrimitive Streak
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FDFT1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat FDFT1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FDFT1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FDFT1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FDFT1

    Orthologs
    for FDFT1 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 eukaryotes.

    Orthologs for FDFT1 gene from 8/26 species (see all 26)    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 --
    --
    (see all 6)    		 --
    		 78(a)
    68(a)
    (see all 6)    		 many → 1
    many → 1
    (see all 6)    		 GL343309.1(150376-173939)
    GL343704.1(87040-112621)
    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
    for FDFT1 gene

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

    Genomic Variants
    for FDFT1 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

    10/1381 NCBI SNPs in FDFT1 are shown (see all 1381)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1473764671,2
    		--11658255(+) GTCTTG/TGAATA 1 -- us2k10--------
    rs284757401,2
    		--11658313(+) AGGAAG/AGTCTT 1 -- us2k1 trp31Minor allele frequency- A:0.00CSA 1
    rs775129311,2
    		C,--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--------
    rs1893910141,2
    		--11658489(+) ATACAC/TAAGTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FDFT1 (11653082 - 11696818 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 16 variations for FDFT1
         15/16 Inversions (see all 16): 37318 37316 37307 37317 37311 37319 37320 37315 37312 37321 37304 37313 37314 37305 37306
    Human Gene Mutation Database (HGMD): FDFT1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FDFT1
    DNA2.0 Custom Variant and Variant Library Synthesis for FDFT1

    Disorders / Diseases
    for FDFT1 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
    FDFT1 for disorders           About GeneDecksing

    OMIM gene information: 184420    OMIM disorders: --

    20/29 diseases for FDFT1 (see all 29):    About MalaCards
    smith-lemli-opitz syndrome    mevalonic aciduria    traumatic brain injury    cholesterol
    brain injury    sleep apnea    sitosterolemia    fatty liver disease
    coronary heart disease    insomnia    apnea    hyperlipidemia
    hypercholesterolemia    liver disease    multiple myeloma    obesity, association with
    obesity    leishmaniasis    myeloma    hepatocellular carcinoma

    8 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: FDFT1 (14 documents)

    Export disorders for FDFT1 gene to outside databases

    Publications
    for FDFT1 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 FDFT1 gene, integrated from 9 sources (see all 195):
    (articles sorted by number of sources associating them with FDFT1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population. (PubMed id 18350552)1, 2, 9 Do R....Engert J.C. (2008)
    4. 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)
    5. 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)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Transcriptional regulation by lovastatin and 25-hydroxycholesterol in HepG2 cells and molecular cloning and expression of the cDNA for the human hepatic squalene synthase. (PubMed id 7685352)1, 2 Jiang G.... Shechter I. (1993)
    8. Squalene synthase, a determinant of Raft-associated cholesterol and modulator of cancer cell proliferation. (PubMed id 17483544)1, 9 Brusselmans K....Swinnen J.V. (2007)
    9. Squalene synthase: a critical enzyme in the cholesterol biosynthesis pathway. (PubMed id 19054015)1, 9 Do R....Engert J.C. (2009)
    10. 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, 9 Andreasen C.H....Hansen T. (2009)

    External Searches for FDFT1 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 FDFT1 gene

    (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

    Other Databases showing FDFT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FDFT1 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 FDFT1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FDFT1 gene

    (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



    Products
    for FDFT1 gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for FDFT1   OriGene shRNA RFP for FDFT1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for FDFT1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for FDFT1  
     OriGene Protein Over-expression Lysate for FDFT1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for FDFT1   OriGene 3'-UTR Clone for FDFT1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for FDFT1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for FDFT1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for FDFT1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FDFT1   OriGene Custom Protein Services for FDFT1  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FDFT1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing FDFT1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FDFT1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat FDFT1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FDFT1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FDFT1
     GenScript Custom Purified and Recombinant Proteins Services for FDFT1 GenScript cDNA clones with any tag delivered in your preferred vector for FDFT1
     GenScript Custom Assay Services for FDFT1 GenScript Custom Superior Antibodies Services for FDFT1
     GenScript Custom overexpressing Cell Line Services for FDFT1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in FDFT1 promoter
     Search Chromatin IP Primers for FDFT1
     RT2 qPCR Primer Assay in human, mouse, rat FDFT1
     Search GNC Networks for FDFT1
     SABiosciences PCR Arrays including human, mouse, rat FDFT1
     Search Tocris compounds for FDFT1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     FDFT1 antibodies
     FDFT1 proteins
     FDFT1 lysates
     Antibodies for FDFT1
     See all of Abcam's Antibodies, Kits and Proteins for FDFT1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     FDFT1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for FDFT1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FDFT1
     SwitchGear 3'UTR luciferase reporter plasmids for FDFT1
     SwitchGear Promoter luciferase reporter plasmids for FDFT1
     ThermoFisher Antibody for FDFT1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FDFT1
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      FDFT1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4