About   Help   FAQ
Fdft1
Gene Detail
 Symbol
Name
ID
Fdft1
farnesyl diphosphate farnesyl transferase 1
MGI:102706
Synonyms SQS, squalene synthase, Ss
Feature Type protein coding gene
Genetic Map
Chromosome 14
33.24 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr14:63145153-63177793 bp, - strand
From Ensembl annotation of GRCm38

  32641 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3281  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: farnesyl-diphosphate farnesyltransferase
Gene Tree: Fdft1

Human
homologs
Human Homolog FDFT1, farnesyl-diphosphate farnesyltransferase 1
NCBI Gene ID 2222
neXtProt AC  NX_P37268
Human Synonyms  DGPT, ERG9, SQS, SS
Human Chr (Location)  8p23.1-p22; chr8:11795573-11839309 (+)  GRCh38
Alleles
and
phenotypes
All alleles(33) : Gene trapped(29) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null mutation die around E9.5-10.5. Conditional homozygous null in which the gene is deleted specifically in oligodendrocyte and Schwann cell display dysmyelination of spinal cord and brain white matter, and showed ataxia and tremor.
 
Phenotype Images(1)
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process biosynthetic process, cholesterol biosynthetic process, ...
Component endoplasmic reticulum, integral component of membrane, ...
Function catalytic activity, farnesyl-diphosphate farnesyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (317)    Tissues (127)    Images (73)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 317
cDNA source data(108)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(111) cDNA(110) Primer pair(1)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000021273 (Evidence)
Entrez Gene14137 (Evidence)
UniGene474432
NIA Mouse Gene IndexU015352, U035665
EC2.5.1.21
Consensus CDS ProjectCCDS27198.1
International Mouse Knockout Project StatusFdft1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021273 Ensembl Gene Model | MGI Sequence Detail 32641 C57BL/6J ±  kb
transcript ENSMUST00000054963 Ensembl | MGI Sequence Detail 2860 Not Applicable 
polypeptide ENSMUSP00000055313 Ensembl | MGI Sequence Detail 416 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(6) UniProt(2)
Polymorphisms RFLP(1) : SNPs within 2kb(175 from dbSNP Build 137)    SNPs within 2kb including multiple locations(177)
Protein-related
information
ResourceIDDescription
InterPro IPR006449 Farnesyl-diphosphate farnesyltransferase
InterPro IPR002060 Squalene/phytoene synthase
InterPro IPR019845 Squalene/phytoene synthase, conserved site
InterPro IPR008949 Terpenoid synthase
Protein Ontology PR:000007448 squalene synthase
References (Earliest) J:17237 Schechter I, et al., Localization of the squalene synthase gene (FDFT1) to human chromosome 8p22-p23.1. Genomics. 1994 Mar 1;20(1):116-8
(Latest) J:187507 Saher G, et al., Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet. Nat Med. 2012 Jul;18(7):1130-5
All references(51)
Other
accession IDs
MGD-MRK-19610

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/15/2014
MGI 5.18
The Jackson Laboratory