Farnesyl-diphosphate farnesyltransferase 1

Protein-coding gene in the species Homo sapiens
FDFT1
Available structures
PDBOrtholog 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
AliasesFDFT1, DGPT, ERG9, SQS, SS, farnesyl-diphosphate farnesyltransferase 1, SQSD
External IDsOMIM: 184420; MGI: 102706; HomoloGene: 3281; GeneCards: FDFT1; OMA:FDFT1 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for FDFT1
Genomic location for FDFT1
Band8p23.1Start11,795,573 bp[1]
End11,839,304 bp[1]
Gene location (Mouse)
Chromosome 14 (mouse)
Chr.Chromosome 14 (mouse)[2]
Chromosome 14 (mouse)
Genomic location for FDFT1
Genomic location for FDFT1
Band14 D1|14 33.24 cMStart63,382,599 bp[2]
End63,417,027 bp[2]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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 MbChr 14: 63.38 – 63.42 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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.

References

  1. ^ a b c ENSG00000284967 GRCh38: Ensembl release 89: ENSG00000079459, ENSG00000284967 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021273 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Farnesyl-diphosphate farnesyltransferase 1". Retrieved 2016-06-25.

Further reading

  • Kavanagh KL, Guo K, Dunford JE, Wu X, Knapp S, Ebetino FH, Rogers MJ, Russell RG, Oppermann U (2006). "The molecular mechanism of nitrogen-containing bisphosphonates as antiosteoporosis drugs". Proc. Natl. Acad. Sci. U.S.A. 103 (20): 7829–34. Bibcode:2006PNAS..103.7829K. doi:10.1073/pnas.0601643103. PMC 1472530. PMID 16684881.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


  • v
  • t
  • e