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Fdft1 farnesyl diphosphate farnesyl transferase 1 [ Mus musculus (house mouse) ]

Gene ID: 14137, updated on 11-Apr-2024

Summary

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Official Symbol
Fdft1provided by MGI
Official Full Name
farnesyl diphosphate farnesyl transferase 1provided by MGI
Primary source
MGI:MGI:102706
See related
Ensembl:ENSMUSG00000021273 AllianceGenome:MGI:102706
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
SS; SQS
Summary
Predicted to enable farnesyl-diphosphate farnesyltransferase activity and squalene synthase activity. Predicted to be involved in cholesterol biosynthetic process and farnesyl diphosphate metabolic process. Predicted to act upstream of or within cholesterol metabolic process; isoprenoid biosynthetic process; and sterol biosynthetic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. Orthologous to human FDFT1 (farnesyl-diphosphate farnesyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 35.8), CNS E18 (RPKM 14.9) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
14 D1; 14 33.24 cM
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (63382599..63419136, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (63145150..63181687, complement)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36025 Neighboring gene tubulin, alpha 3B pseudogene Neighboring gene predicted gene, 23629 Neighboring gene STARR-seq mESC enhancer starr_36915 Neighboring gene cathepsin B Neighboring gene microRNA 12185 Neighboring gene STARR-seq mESC enhancer starr_36919 Neighboring gene STARR-positive B cell enhancer ABC_E3119 Neighboring gene predicted gene, 53861 Neighboring gene nei like 2 (E. coli) Neighboring gene GATA binding protein 4 Neighboring gene STARR-seq mESC enhancer starr_36921

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Survival of adult neurons lacking cholesterol synthesis in vivo. Fünfschilling U, et al. BMC Neurosci, 2007 Jan 2. PMID 17199885, Free PMC Article
  2. Comparative squalene synthase gene expression in mouse liver and testis. Collins BS, et al. Arch Biochem Biophys, 2001 Nov 15. PMID 11697864
  3. Molecular cloning and functional expression of a cDNA for mouse squalene synthase. Inoue T, et al. Biochim Biophys Acta, 1995 Jan 2. PMID 7999794
  4. Plasma cholesterol-lowering and transient liver dysfunction in mice lacking squalene synthase in the liver. Nagashima S, et al. J Lipid Res, 2015 May. PMID 25755092, Free PMC Article
  5. Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet. Saher G, et al. Nat Med, 2012 Jul. PMID 22706386

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This study demonistrated that fdft1 is regulate the neuronal cholesterol synthesis during neurite outgrowth.
    Title: Critical time window of neuronal cholesterol synthesis during neurite outgrowth.
  2. VEGF expression, APOPTOSIS, AND ANGIOGENESIS in squalene synthase -ablated neural stem cells wERE strongly upregulated
    Title: Ablation of cholesterol biosynthesis in neural stem cells increases their VEGF expression and angiogenesis but causes neuron apoptosis.
  3. Result provides the first in vivo evidence that SS plays a regulatory role in cholesterol metabolism through modulation of HMG-CoA reductase activity and cholesterol biosynthesis.
    Title: Increased cholesterol biosynthesis and hypercholesterolemia in mice overexpressing squalene synthase in the liver.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
enables farnesyl-diphosphate farnesyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables farnesyl-diphosphate farnesyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables farnesyltranstransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables squalene synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity, transferring alkyl or aryl (other than methyl) groups IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in farnesyl diphosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in farnesyl diphosphate metabolic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within isoprenoid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within steroid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within sterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
squalene synthase
Names
FPP:FPP farnesyltransferase
farnesyl-diphosphate farnesyltransferase
NP_001347140.1
NP_034321.2
XP_006518610.1
XP_017171333.1
XP_036014350.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001360211.1 → NP_001347140.1  squalene synthase

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents transcription from a major CAGE transcription cluster, and represents the shorter transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK169317, BC054722, BY293142
    Consensus CDS
    CCDS27198.1
    UniProtKB/Swiss-Prot
    P53798, Q8BPF5
    UniProtKB/TrEMBL
    Q3TS40
    Related
    ENSMUSP00000055313.10, ENSMUST00000054963.10
    Conserved Domains (1) summary
    cl00210
    Location:38 → 370
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

  2. NM_010191.3 → NP_034321.2  squalene synthase

    See identical proteins and their annotated locations for NP_034321.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK136159, BC054722
    Consensus CDS
    CCDS27198.1
    UniProtKB/Swiss-Prot
    P53798, Q8BPF5
    UniProtKB/TrEMBL
    Q3TS40
    Related
    ENSMUSP00000153671.2, ENSMUST00000224625.2
    Conserved Domains (1) summary
    cl00210
    Location:38 → 370
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    63382599..63419136 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017315844.1 → XP_017171333.1  squalene synthase isoform X1

    UniProtKB/Swiss-Prot
    P53798, Q8BPF5
    UniProtKB/TrEMBL
    Q3TS40
    Conserved Domains (1) summary
    cl00210
    Location:38 → 370
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

  2. XM_036158457.1 → XP_036014350.1  squalene synthase isoform X2

    Conserved Domains (1) summary
    cl00210
    Location:18 → 276
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1

  3. XM_006518547.5 → XP_006518610.1  squalene synthase isoform X3

    Conserved Domains (1) summary
    cl00210
    Location:1 → 221
    Isoprenoid_Biosyn_C1; Isoprenoid Biosynthesis enzymes, Class 1
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P53798.2 GenPept UniProtKB/Swiss-Prot:P53798

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