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Aliases for FDFT1 Gene

Aliases for FDFT1 Gene

  • Farnesyl-Diphosphate Farnesyltransferase 1 2 3 5
  • FPP:FPP Farnesyltransferase 3 4
  • Squalene Synthase 2 3
  • EC 2.5.1.21 4 61
  • SQS 3 4
  • SS 3 4
  • Farnesyl-Diphosphate Farnesyltransferase 4
  • Presqualene-Di-Diphosphate Synthase 3
  • Squalene Synthetase 3
  • DGPT 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 Smith-Lemli-Opitz Syndrome and Phencyclidine Abuse. Among its related pathways are Statin Pathway and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include oxidoreductase activity and farnesyl-diphosphate farnesyltransferase 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

Enhancers for FDFT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F011874 1.8 FANTOM5 Ensembl ENCODE 20.7 +81.6 81628 6.4 PKNOX1 ARNT MLX CREB3L1 ARID4B FEZF1 DMAP1 YY1 SLC30A9 ZNF143 FDFT1 CTSB LOC105379243 DEFB136 DEFB135 RPS3AP34 NEIL2 PIR55200
GH08F011799 1.4 Ensembl ENCODE 21.6 +9.2 9249 11.2 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF207 FDFT1 FAM85A DEFB135 LINC00208 ZNF705D LINC00529 ENSG00000249316 ZNF705CP OR7E10P NEIL2
GH08F011851 1.3 Ensembl ENCODE 19.8 +58.2 58166 3.9 PKNOX1 MLX SIN3A ARID4B FEZF1 DMAP1 YY1 FOS PAF1 SP5 FDFT1 CTSB LOC105379243 NEIL2 GC08M011864 PIR38437
GH08F011819 1 Ensembl ENCODE 22.6 +25.3 25294 2.5 ZSCAN5A HDAC1 KLF1 TAL1 ARID4B ZIC2 ZNF324 GATA3 FOXK2 GATA2 FDFT1 CTSB PIR48315 LOC105379243
GH08F011823 0.8 Ensembl ENCODE 21.7 +28.6 28614 1.3 CBX8 POLR2A SUZ12 RNF2 EZH2 FDFT1 LOC105379243 CTSB FAM66A PIR48315
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FDFT1 on UCSC Golden Path with GeneCards custom track

Promoters for FDFT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001898607 628 1600 SOX13 CTCF HDAC1 ESRRA ZNF384 RARA ZNF316 GATA2 NFYB ZSCAN29

Genomic Location for FDFT1 Gene

Chromosome:
8
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

Genes around FDFT1 on UCSC Golden Path with GeneCards custom track

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

Selected DME Specific Peptides for FDFT1 Gene

P37268:
  • FCAIPQVMAI
  • SLKTCYKYL
  • SRSFAAVI
  • YCHYVAGLVG
  • FLQKTNIIRD
  • FYLVLRALDT

Post-translational modifications for FDFT1 Gene

  • Ubiquitination at Lys 30, Lys 41, Lys 45, Lys 93, Lys 117, Lys 138, Lys 170, Lys 213, Lys 318, and Lys 358
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cloud-Clone Corp. Antibodies for FDFT1

Domains & Families for FDFT1 Gene

Gene Families for FDFT1 Gene

Graphical View of Domain Structure for InterPro Entry

P37268

UniProtKB/Swiss-Prot:

FDFT_HUMAN :
  • Belongs to the phytoene/squalene synthase family.
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 IEA --
GO:0016765 transferase activity, transferring alkyl or aryl (other than methyl) groups IEA --
GO:0051996 squalene synthase activity IEA,IBA --
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:

Animal Model Products

miRNA for FDFT1 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FDFT1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,TAS --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with FDFT1: view

Pathways & Interactions for FDFT1 Gene

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

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:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process TAS 8474436
GO:0006695 cholesterol biosynthetic process TAS --
GO:0006696 ergosterol biosynthetic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with FDFT1: view

No data available for SIGNOR curated interactions for FDFT1 Gene

Drugs & Compounds for FDFT1 Gene

(42) Drugs for FDFT1 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
TAK-475 Investigational Pharma Target 0
zaragozic acid A Pharma Inhibition, Inhibitor 0
(1-methyl-1-{[3-(3-phenoxyphenyl)propyl]carbamoyl}ethyl)phosphonate Pharma Inhibition, Inhibitor 0
(1-phosphonato-4-{4-[4-(trifluoromethyl)phenyl]phenyl}butyl)phosphonate Pharma Inhibition, Inhibitor 0

(25) Additional Compounds for FDFT1 Gene - From: Novoseek, HMDB, and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
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
  • Presqualene diphosphate
  • Presqualene pyrophosphate
29849-75-0
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
squalene
  • (all-E)-2,6,10,15,19,23-hexamethyl-2,6,10,14,18,22-Tetracosahexaene
  • (E,E,E,E)-Squalene
  • 2,6,10,15,19,23-Hexamethyl-2,6,10,14,18,22-tetracosahexaene
  • All-trans-Squalene
  • Nikko Squalane EX
111-02-4
({[3-(3-phenoxyphenyl)propyl]carbamoyl}methyl)phosphonate
Inhibition, Inhibitor

(1) ApexBio Compounds for FDFT1 Gene

Compound Action Cas Number
Costundide 553-21-9
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:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and SAGE for FDFT1 Gene

Protein differential expression in normal tissues from HIPED for FDFT1 Gene

This gene is overexpressed in Fetal testis (32.0) and Bone (26.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FDFT1 Gene



Protein tissue co-expression partners for FDFT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FDFT1 Gene:

FDFT1

SOURCE GeneReport for Unigene cluster for FDFT1 Gene:

Hs.593928
genes like me logo Genes that share expression patterns with FDFT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 35
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia FDFT1 34 35
  • 89.77 (n)
cow
(Bos Taurus)
Mammalia FDFT1 34 35
  • 87.77 (n)
mouse
(Mus musculus)
Mammalia Fdft1 34 16 35
  • 85.31 (n)
rat
(Rattus norvegicus)
Mammalia Fdft1 34
  • 84.42 (n)
oppossum
(Monodelphis domestica)
Mammalia FDFT1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves FDFT1 34 35
  • 75.63 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 73 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
-- 35
  • 66 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fdft1 34
  • 72.03 (n)
Str.13257 34
zebrafish
(Danio rerio)
Actinopterygii si:ch73-107c13.2 34
  • 67.25 (n)
FDFT1 35
  • 67 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR444C 34
  • 52.88 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D08866g 34
  • 50.92 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG9 34 35 37
  • 50.7 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SQS1 34
  • 50.73 (n)
soybean
(Glycine max)
eudicotyledons Gma.8028 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3819 34
rice
(Oryza sativa)
Liliopsida Os07g0200700 34
  • 52.41 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.10521 34
corn
(Zea mays)
Liliopsida Zm.13795 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg9 34
  • 53.76 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06054 34
  • 51.77 (n)
Species where no ortholog for FDFT1 was found in the sources mined by GeneCards:
  • 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
rs10089520 -- 11,828,580(+) ATGCA(C/T)GAGCG intron-variant
rs10089896 -- 11,838,552(+) TGGCA(A/G)TACCT reference, synonymous-codon
rs10091083 -- 11,799,962(+) aaatg(A/T)agaag intron-variant
rs10091118 -- 11,838,931(+) CCTGG(C/T)TAGAA utr-variant-3-prime
rs10091427 -- 11,833,866(+) GGGGA(A/G)AAATG intron-variant

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

Variant ID Type Subtype PubMed ID
esv3572514 CNV loss 25503493
nsv1018042 CNV gain 25217958
nsv1032739 CNV loss 25217958
nsv1034132 CNV gain 25217958
nsv1076058 CNV deletion 25765185
nsv525089 CNV loss 19592680

Variation tolerance for FDFT1 Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.67; 57.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FDFT1 Gene

Human Gene Mutation Database (HGMD)
FDFT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FDFT1

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

Disorders for FDFT1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FDFT1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
smith-lemli-opitz syndrome
  • rutledge lethal multiple congenital anomaly syndrome
phencyclidine abuse
  • pcp abuse
keratolytic winter erythema
  • erythrokeratolysis hiemalis ichthyosis
sitosterolemia
  • beta-sitosterolemia
smoldering myeloma
- elite association - COSMIC cancer census association via MalaCards
Search FDFT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FDFT1

Genetic Association Database (GAD)
FDFT1
Human Genome Epidemiology (HuGE) Navigator
FDFT1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FDFT1
genes like me logo Genes that share disorders with FDFT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 46 64
  2. Studies of CTNNBL1 and FDFT1 variants and measures of obesity: analyses of quantitative traits and case-control studies in 18,014 Danes. (PMID: 19245693) Andreasen C.H. … Hansen T. (BMC Med. Genet. 2009) 3 22 46 64
  3. 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 22 46 64
  4. Crystal structure of human squalene synthase. A key enzyme in cholesterol biosynthesis. (PMID: 10896663) Pandit J. … Harwood H.J. Jr. (J. Biol. Chem. 2000) 3 4 22 64
  5. 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 22 64

Products for FDFT1 Gene

Sources for FDFT1 Gene

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