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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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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