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Aliases for FDFT1 Gene

Aliases for FDFT1 Gene

  • Farnesyl-Diphosphate Farnesyltransferase 1 2 3
  • FPP:FPP Farnesyltransferase 3 4
  • Squalene Synthase 2 3
  • EC 2.5.1.21 4 63
  • DGPT 3 6
  • SQS 3 4
  • SS 3 4
  • Farnesyl-Diphosphate Farnesyltransferase 4
  • Presqualene-Di-Diphosphate Synthase 3
  • Squalene Synthetase 3
  • ERG9 3

External Ids for FDFT1 Gene

Previous GeneCards Identifiers for FDFT1 Gene

  • GC08P011723
  • GC08P011524
  • GC08P011697
  • GC08P010591
  • GC08P011653

Summaries for FDFT1 Gene

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. Among its related pathways are Regulation of Cholesterol Biosynthesis by SREBP (SREBF) and Metabolism. GO annotations related to this gene include oxidoreductase activity and squalene synthase activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FDFT1 Gene

Genomics for FDFT1 Gene

Regulatory Elements for FDFT1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FDFT1 Gene

Start:
11,795,573 bp from pter
End:
11,839,309 bp from pter
Size:
43,737 bases
Orientation:
Plus strand

Genomic View for FDFT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FDFT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FDFT1 Gene

Proteins for FDFT1 Gene

  • Protein details for FDFT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37268-FDFT_HUMAN
    Recommended name:
    Squalene synthase
    Protein Accession:
    P37268
    Secondary Accessions:
    • B3KQ95
    • B4DJE5
    • B4DT56
    • B7Z1J3
    • Q96GT0

    Protein attributes for FDFT1 Gene

    Size:
    417 amino acids
    Molecular mass:
    48115 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for FDFT1 Gene

    Alternative splice isoforms for FDFT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FDFT1 Gene

Proteomics data for FDFT1 Gene at MOPED

Selected DME Specific Peptides for FDFT1 Gene

Post-translational modifications for FDFT1 Gene

  • Ubiquitination at Lys30, Lys41, Lys45, Lys93, Lys117, Lys138, Lys170, Lys213, Lys318, and Lys358
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains for FDFT1 Gene

Gene Families for FDFT1 Gene

Graphical View of Domain Structure for InterPro Entry

P37268

UniProtKB/Swiss-Prot:

FDFT_HUMAN :
  • P37268
Family:
  • Belongs to the phytoene/squalene synthase family.
genes like me logo Genes that share domains with FDFT1: view

Function for FDFT1 Gene

Molecular function for FDFT1 Gene

GENATLAS Biochemistry: farnesyl diphosphate,farnesyltransferase
UniProtKB/Swiss-Prot CatalyticActivity: 2 farnesyl diphosphate + NAD(P)H = squalene + 2 diphosphate + NAD(P)(+)

Enzyme Numbers (IUBMB) for FDFT1 Gene

Gene Ontology (GO) - Molecular Function for FDFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004310 farnesyl-diphosphate farnesyltransferase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016740 transferase activity --
GO:0051996 squalene synthase activity IEA --
genes like me logo Genes that share ontologies with FDFT1: view
genes like me logo Genes that share phenotypes with FDFT1: view

Animal Models for FDFT1 Gene

MGI Knock Outs for FDFT1:

miRNA for FDFT1 Gene

No data available for Transcription Factor Targeting and HOMER Transcription for FDFT1 Gene

Localization for FDFT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FDFT1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FDFT1 Gene COMPARTMENTS Subcellular localization image for FDFT1 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
extracellular 2
nucleus 2
peroxisome 2
plasma membrane 2
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for FDFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle --
genes like me logo Genes that share ontologies with FDFT1: view

Pathways for FDFT1 Gene

genes like me logo Genes that share pathways with FDFT1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Lipoprotein Signaling & Cholesterol Metabolism in human,mouse,rat

UniProtKB/Swiss-Prot P37268-FDFT_HUMAN

  • Pathway: Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 1/3

Gene Ontology (GO) - Biological Process for FDFT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process TAS 8474436
GO:0006695 cholesterol biosynthetic process TAS --
GO:0008299 isoprenoid biosynthetic process IEA --
GO:0008610 lipid biosynthetic process --
GO:0009058 biosynthetic process --
genes like me logo Genes that share ontologies with FDFT1: view

Compounds for FDFT1 Gene

(9) HMDB Compounds for FDFT1 Gene

Compound Synonyms Cas Number PubMed IDs
Farnesyl pyrophosphate
  • (2E,6E)-Farnesyl diphosphate
13058-04-3
Magnesium
  • Magnesium
7439-95-4
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADP
  • Adenine-nicotinamide dinucleotide phosphate
53-59-8
NADPH
  • 2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
53-57-6

(25) IUPHAR Ligand for FDFT1 Gene

Ligand Type Action Affinity Pubmed IDs
zaragozic acid A Inhibitor Inhibition 9.6
J-104118 Inhibitor Inhibition 9.14
[4-(4-phenylphenyl)-1-phosphonatobutyl]phosphonate Inhibitor Inhibition 9
E5700 Inhibitor Inhibition 8.82
4-[3-(1-benzofuran-5-yloxy)phenyl]-1-phosphonatobutane-1-sulfonate Inhibitor Inhibition 8.7
J-104123 Inhibitor Inhibition 8.6
4-[3-(2-benzylphenoxy)phenyl]-1-phosphonatobutane-1-sulfonate Inhibitor Inhibition 8.52
(1-phosphonato-4-{4-[4-(trifluoromethyl)phenyl]phenyl}butyl)phosphonate Inhibitor Inhibition 8.52
4-[2-fluoro-5-(4-fluorophenoxy)phenyl]-1-phosphonatobutane-1-sulfonate Inhibitor Inhibition 8.4
4-[3-(2-fluorophenoxy)phenyl]-1-phosphonatobutane-1-sulfonate Inhibitor Inhibition 8.3
2-{2-[(3R,5S)-7-chloro-5-(2,3-dimethoxyphenyl)-1-(3-hydroxy-2,2-dimethylpropyl)-2-oxo-1,2,3,5-tetrahydro-4,1-benzoxazepin-3-yl]acetamido}acetic acid Inhibitor Inhibition 7.82
3-{2-[(3R,5S)-7-chloro-5-(2,3-dimethoxyphenyl)-1-(3-hydroxy-2,2-dimethylpropyl)-2-oxo-1,2,3,5-tetrahydro-4,1-benzoxazepin-3-yl]acetamido}propanoic acid Inhibitor Inhibition 7.82
[(3E,7E)-4,8,12-trimethyl-1-phosphonatotrideca-3,7,11-trien-1-yl]phosphonate Inhibitor Inhibition 7.74
NB-598 Inhibitor Inhibition 7.7
1-allyl-2-[3-(isopropylamino)propoxy]-9H-carbazole Inhibitor Inhibition 7.49
ethyl 3-[4-(2-{3-hydroxy-1-azabicyclo[2.2.2]octan-3-yl}ethynyl)-3-(prop-2-en-1-yl)phenyl]propanoate Inhibitor Inhibition 7.37
4-{[3-({[(2E)-6,6-dimethylhept-2-en-4-yn-1-yl](ethyl)amino}methyl)phenoxymethyl]dimethylsilyl}benzonitrile Inhibitor Inhibition 7.22
1-allyl-2-[3-(benzylamino)propoxy]-9H-carbazole Inhibitor Inhibition 7.2
1-allyl-2-[3-(isopropylamino)propoxy]-9H-xanthen-9-one Inhibitor Inhibition 6.92
[1-(hydroxycarbamoyl)-4-(3-phenoxyphenyl)butyl]phosphonate Inhibitor Inhibition 6.52
({[3-(3-phenoxyphenyl)propyl]carbamoyl}methyl)phosphonate Inhibitor Inhibition 6.28
(1-methyl-1-{[3-(3-phenoxyphenyl)propyl]carbamoyl}ethyl)phosphonate Inhibitor Inhibition 6.28
ethyl 2-[4-(2-{3-hydroxy-1-azabicyclo[2.2.2]octan-3-yl}ethynyl)phenyl]acetate Inhibitor Inhibition 6.18
2-(3-phenoxyphenyl)-1-phosphonatoethane-1-sulfonate Inhibitor Inhibition 5.43
4-(9-ethyl-9H-carbazol-3-yl)-1-phosphonatobutane-1-sulfonate Inhibitor Inhibition 4.93

(32) Novoseek inferred chemical compound relationships for FDFT1 Gene

Compound -log(P) Hits PubMed IDs
squalene 98.3 199
farnesyl diphosphate 93.2 44
dehydrosqualene 91.8 1
zaragozic acid a 91.6 10
presqualene diphosphate 86.1 6
genes like me logo Genes that share compounds with FDFT1: view

Transcripts for FDFT1 Gene

Unigene Clusters for FDFT1 Gene

Farnesyl-diphosphate farnesyltransferase 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FDFT1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FDFT1 Gene

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: - - - - - - - - - - - -
SP6: - -

Relevant External Links for FDFT1 Gene

GeneLoc Exon Structure for
FDFT1
ECgene alternative splicing isoforms for
FDFT1

Expression for FDFT1 Gene

mRNA expression in normal human tissues for FDFT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FDFT1 Gene

SOURCE GeneReport for Unigene cluster for FDFT1 Gene Hs.593928

genes like me logo Genes that share expressions with FDFT1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FDFT1 Gene

Orthologs for FDFT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FDFT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FDFT1 35
  • 99.44 (n)
  • 100 (a)
FDFT1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FDFT1 35
  • 87.77 (n)
  • 91.85 (a)
FDFT1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FDFT1 35
  • 89.77 (n)
  • 93.53 (a)
FDFT1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fdft1 35
  • 85.31 (n)
  • 88.62 (a)
Fdft1 16
Fdft1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FDFT1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fdft1 35
  • 84.42 (n)
  • 86.2 (a)
chicken
(Gallus gallus)
Aves FDFT1 35
  • 75.63 (n)
  • 76.76 (a)
FDFT1 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 66 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fdft1 35
  • 72.03 (n)
  • 74.39 (a)
Str.13257 35
zebrafish
(Danio rerio)
Actinopterygii FDFT1 36
  • 67 (a)
OneToOne
si:ch73-107c13.2 35
  • 67.25 (n)
  • 69.98 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR444C 35
  • 52.88 (n)
  • 49.58 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG9 35
  • 50.7 (n)
  • 49.4 (a)
ERG9 36
  • 39 (a)
OneToOne
ERG9 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D08866g 35
  • 50.92 (n)
  • 46.98 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3819 35
soybean
(Glycine max)
eudicotyledons Gma.8028 35
thale cress
(Arabidopsis thaliana)
eudicotyledons SQS1 35
  • 50.73 (n)
  • 44.47 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.10521 35
corn
(Zea mays)
Liliopsida Zm.13795 35
rice
(Oryza sativa)
Liliopsida Os07g0200700 35
  • 52.41 (n)
  • 47.78 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06054 35
  • 51.77 (n)
  • 43.85 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg9 35
  • 53.76 (n)
  • 49.09 (a)
Species with no ortholog for FDFT1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FDFT1 Gene

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

Paralogs for FDFT1 Gene

No data available for Paralogs for FDFT1 Gene

Variants for FDFT1 Gene

Sequence variations from dbSNP and Humsavar for FDFT1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs2446 -- 11,839,168(+) TTCTC(A/C/G)TATTC utr-variant-3-prime
rs3258 -- 11,838,843(+) GCTTG(C/T)GGCTC utr-variant-3-prime
rs4731 -- 11,808,828(+) CTACA(A/G/T)GTATC reference, missense, utr-variant-5-prime, upstream-variant-2KB, intron-variant
rs8417 -- 11,809,670(+) AGCAA(C/T)GCAGT reference, synonymous-codon, utr-variant-5-prime, intron-variant
rs8944 -- 11,838,983(+) TCGTA(A/C)TAGTA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FDFT1 Gene

Variant ID Type Subtype PubMed ID
nsv890361 CNV Gain 21882294
nsv890362 CNV Loss 21882294
nsv890363 CNV Loss 21882294
nsv890364 CNV Loss 21882294
nsv890365 CNV Gain 21882294
nsv890366 CNV Gain 21882294
nsv890367 CNV Gain 21882294
nsv890368 CNV Loss 21882294
nsv890369 CNV Loss 21882294
nsv525089 CNV Loss 19592680

Relevant External Links for FDFT1 Gene

HapMap Linkage Disequilibrium report
FDFT1
Human Gene Mutation Database (HGMD)
FDFT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FDFT1 Gene

Disorders for FDFT1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for FDFT1 Gene including...

Search for FDFT1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for FDFT1 Gene

(8) Novoseek inferred disease relationships for FDFT1 Gene

Disease -log(P) Hits PubMed IDs
smith-lemli-opitz syndrome 66.5 1
hypercholesterolemia 20.6 2
myopathy 13.1 1
tumors 3.57 1
hyperlipidemia 0 2

Relevant External Links for FDFT1

Genetic Association Database (GAD)
FDFT1
Human Genome Epidemiology (HuGE) Navigator
FDFT1
genes like me logo Genes that share disorders with FDFT1: view

No data available for UniProtKB/Swiss-Prot for FDFT1 Gene

Publications for FDFT1 Gene

  1. K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population. (PMID: 18350552) Do R. … Engert J.C. (Hum. Mutat. 2008) 3 4 23 48
  2. Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population. (PMID: 17805225) Engert J.C. … Gaudet D. (Eur. J. Hum. Genet. 2008) 3 23 48
  3. Expression, purification, and characterization of the human squalene synthase: use of yeast and baculoviral systems. (PMID: 7864626) Soltis D.A. … Cornell-Kennon S.A. (Arch. Biochem. Biophys. 1995) 3 4 23
  4. Cloning, expression and characterisation of the cDNA encoding human hepatic squalene synthase, and its relationship to phytoene synthase. (PMID: 8294001) Summers C. … Charles A.D. (Gene 1993) 3 4 23
  5. Conservation between human and fungal squalene synthetases: similarities in structure, function, and regulation. (PMID: 8474436) Robinson G.W. … Bishop R.W. (Mol. Cell. Biol. 1993) 3 4 23

Products for FDFT1 Gene

Sources for FDFT1 Gene

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