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 Type	Results
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 Model	ENSMUSG00000021273 (Evidence)
Entrez Gene	14137 (Evidence)
UniGene	474432
NIA Mouse Gene Index	U015352, U035665
EC	2.5.1.21
Consensus CDS Project	CCDS27198.1
International Mouse Knockout Project Status	Fdft1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000021273	Ensembl Gene Model | MGI Sequence Detail	32641	C57BL/6J
transcript	ENSMUST00000054963	Ensembl | MGI Sequence Detail	2860	Not Applicable
polypeptide	ENSMUSP00000055313	Ensembl | MGI Sequence Detail	416	Not Applicable

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

Resource	ID	Description
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