Farnesyl-diphosphate farnesyltransferase 1

Farnesyl-diphosphate farnesyltransferase 1 is a protein that in humans is encoded by the FDFT1 gene. ^[5]

FDFT1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1EZF, 3ASX, 3LEE, 3Q2Z, 3Q30, 3V66, 3VJ8, 3VJ9, 3VJA, 3VJB, 3VJC, 3WC9, 3WCD, 3WCF, 3WCH, 3WCI, 3WCJ, 3WCL, 3WCM, 3WEF, 3WEG, 3WEH, 3WEI, 3WEJ, 3WEK, 3WSA
Identifiers
Aliases	FDFT1, DGPT, ERG9, SQS, SS, farnesyl-diphosphate farnesyltransferase 1, SQSD
External IDs	OMIM: 184420; MGI: 102706; HomoloGene: 3281; GeneCards: FDFT1; OMA:FDFT1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8p23.1 Start 11,795,573 bp[1] End 11,839,304 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14 D1|14 33.24 cM Start 63,382,599 bp[2] End 63,417,027 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ganglionic eminence ventricular zone mucosa of transverse colon left testis C1 segment right testis olfactory zone of nasal mucosa minor salivary glands right adrenal gland islet of Langerhans Top expressed in primary oocyte secondary oocyte zygote spermatid ganglionic eminence testicle spinal ganglia genital tubercle neural tube mesencephalon More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity catalytic activity transferase activity, transferring alkyl or aryl (other than methyl) groups farnesyl-diphosphate farnesyltransferase activity squalene synthase activity protein binding metal ion binding Cellular component integral component of membrane membrane intracellular membrane-bounded organelle endoplasmic reticulum endoplasmic reticulum membrane Biological process steroid metabolic process sterol biosynthetic process lipid biosynthetic process lipid metabolism cholesterol metabolic process biosynthesis isoprenoid biosynthetic process metabolism steroid biosynthetic process cholesterol biosynthetic process ergosterol biosynthetic process farnesyl diphosphate metabolic process regulation of lipid metabolic process regulation of cholesterol biosynthetic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2222 14137 Ensembl ENSG00000079459 ENSG00000284967 ENSMUSG00000021273 UniProt P37268 Q6IAX1 P53798 RefSeq (mRNA) NM_001287742 NM_001287743 NM_001287744 NM_001287745 NM_001287747 NM_001287748 NM_001287749 NM_001287750 NM_001287751 NM_001287756 NM_004462 NM_010191 NM_001360211 RefSeq (protein) NP_001274671 NP_001274672 NP_001274673 NP_001274674 NP_001274676 NP_001274677 NP_001274678 NP_001274679 NP_001274680 NP_001274685 NP_004453 NP_001274671.1 NP_001274672.1 NP_004453.3 NP_034321 NP_001347140 Location (UCSC) Chr 8: 11.8 – 11.84 Mb Chr 14: 63.38 – 63.42 Mb PubMed search [3] [4]
Wikidata
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Function

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.