FDFT1 - farnesyl-diphosphate farnesyltransferase 1 Gene

Homo sapiens

Also known as SS; SQS; DGPT; ERG9; SQSD

Gene ID: 2222 | Gene type: protein coding

About FDFT1

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:11,795,582-11,839,309 (from NCBI)

This gene has 26 transcripts (splice variants), 1 gene allele, 218 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 32.6), colon (RPKM 26.2) and 25 other tissues.

Summary

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. [provided by RefSeq, Jul 2008]

FDFT1 Products(11)

mRNA	Protein	Name
NM_001287742.2	NP_001274671.1	squalene synthase isoform 1
NM_001287743.2	NP_001274672.1	squalene synthase isoform 1
NM_001287744.2	NP_001274673.1	squalene synthase isoform 2
NM_001287745.2	NP_001274674.1	squalene synthase isoform 2
NM_001287747.1	NP_001274676.1	squalene synthase isoform 2
NM_001287748.1	NP_001274677.1	squalene synthase isoform 2
NM_001287749.2	NP_001274678.1	squalene synthase isoform 2
NM_001287750.2	NP_001274679.1	squalene synthase isoform 3
NM_001287751.2	NP_001274680.1	squalene synthase isoform 4
NM_001287756.2	NP_001274685.1	squalene synthase isoform 5
NM_004462.5	NP_004453.3	squalene synthase isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25910212	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FDFT1 Protein Structure

SQS_PSY

0
100
200
300
417 a.a.

Protein Preferred Names

Protein Names

squalene synthase

FPP:FPP farnesyltransferase

Recombinant FDFT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72193	FDFT1 Protein, Human (His)	P37268-1 (E2-H417)	≥95%

Related Diseases

Diseases

Alias

Squalene Synthase Deficiency

SQSD	Neurodevelopmental Disorder With Low Cholesterol And Abnormal Urine Organic Acids

Smith-Lemli-Opitz Syndrome

SLOS	Rsh Syndrome
7-Dehydrocholesterol Reductase Deficiency	Slo Syndrome
Rutledge Lethal Multiple Congenital Anomaly Syndrome	Lethal Acrodysgenital Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung	Smith-Opitz-Inborn Syndrome
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung	Smith Lemli Opitz Syndrome
Smith-Lemli-Opitz Syndrome, Type Ii

Chagas Disease

American Trypanosomiasis	Chagas' Disease
Chagas' Disease With Digestive System Involvement	Chagas' Disease With Nervous System Involvement
Chagas' Disease With Other Organ Involvement	Infection Due To Trypanosoma Cruzi
South American Trypanosomiasis	Chronic Chagas Disease With Digestive System Involvement

Mature Cataract

Total Or Mature Cataract

Total, Mature Senile Cataract

Myopathy

Muscular Diseases

Myopathies

Body Mass Index Quantitative Trait Locus 11

OBESITY	Obesity, Susceptibility To
Leanness, Inherited	Obesity, Susceptibility To, Bmiq11
Obesity, Mild, Early-Onset	Obesity, Association With
Obesity, Early-Onset, Susceptibility To	Obesity, Severe
Obesity, Severe, And Type Ii Diabetes	Obesity, Late-Onset
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-100313A	YM-53601	Inhibitor	99.26%	Unkown
HY-100313	YM-53601 free base	Inhibitor	/	Unkown
HY-RS04852	FDFT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	FDFT1	VGNC	VGNC:56966
Mus musculus	FDFT1	MGD	MGI:102706
Rattus norvegicus	FDFT1	RGD	RGD:61834
Canis familiaris	FDFT1	VGNC	VGNC:40811
Felis catus	FDFT1	VGNC	VGNC:62220
Macaca mulatta	FDFT1	VGNC	VGNC:72631
Others	FDFT1	NCBI

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