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FDFT1 - farnesyl-diphosphate farnesyltransferase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2222

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	Verweise	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

FDFT1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	FDFT1	P37268	NCAPH2	Homo sapiens	Q6IBW4-4	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	NCAPH2	Homo sapiens	Q6IBW4-4	Validated Y2H	32296183
Intra	FDFT1	P37268	NCAPH2	Homo sapiens	Q6IBW4-4	Y2H Array	32296183
Intra	FDFT1	P37268	JAGN1	Homo sapiens	Q8N5M9	Validated Y2H	32296183
Intra	FDFT1	P37268	JAGN1	Homo sapiens	Q8N5M9	Y2H Array	32296183
Intra	FDFT1	P37268	JAGN1	Homo sapiens	Q8N5M9	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	CLN5	Homo sapiens	O75503	Y2H Array	32296183
Intra	FDFT1	P37268	CLN5	Homo sapiens	O75503	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	ARL13B	Homo sapiens	Q3SXY8	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	ARL13B	Homo sapiens	Q3SXY8	Validated Y2H	32296183
Intra	FDFT1	P37268	ARL13B	Homo sapiens	Q3SXY8	Y2H Array	32296183
Intra	FDFT1	P37268	CD74	Homo sapiens	P04233-2	Y2H Array	32296183
Intra	FDFT1	P37268	CD74	Homo sapiens	P04233-2	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	TLCD4	Homo sapiens	Q96MV1	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	TLCD4	Homo sapiens	Q96MV1	Validated Y2H	32296183
Intra	FDFT1	P37268	TLCD4	Homo sapiens	Q96MV1	Y2H Array	32296183
Intra	FDFT1	P37268	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	AQP6	Homo sapiens	Q13520	Validated Y2H	32296183
Intra	FDFT1	P37268	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	FDFT1	P37268	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	GPR152	Homo sapiens	Q8TDT2	Validated Y2H	32296183
Intra	FDFT1	P37268	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	FDFT1	P37268	SLC35C2	Homo sapiens	Q9NQQ7-3	Y2H Array	32296183
Intra	FDFT1	P37268	SLC35C2	Homo sapiens	Q9NQQ7-3	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	SLC35C2	Homo sapiens	Q9NQQ7-3	Validated Y2H	32296183
Intra	FDFT1	P37268	GJA8	Homo sapiens	P48165	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	GJA8	Homo sapiens	P48165	Y2H Array	32296183
Intra	FDFT1	P37268	GJA8	Homo sapiens	P48165	Validated Y2H	32296183
Intra	FDFT1	P37268	FAM209A	Homo sapiens	Q5JX71	Validated Y2H	32296183
Intra	FDFT1	P37268	FAM209A	Homo sapiens	Q5JX71	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	FAM209A	Homo sapiens	Q5JX71	Y2H Array	32296183
Intra	FDFT1	P37268	ELOVL4	Homo sapiens	Q9GZR5	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	ELOVL4	Homo sapiens	Q9GZR5	Validated Y2H	32296183
Intra	FDFT1	P37268	ELOVL4	Homo sapiens	Q9GZR5	Y2H Array	32296183
Intra	FDFT1	P37268	SLC10A1	Homo sapiens	Q14973	Validated Y2H	32296183
Intra	FDFT1	P37268	SLC10A1	Homo sapiens	Q14973	Y2H Array	32296183
Intra	FDFT1	P37268	SLC10A1	Homo sapiens	Q14973	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	CREB3	Homo sapiens	O43889-2	Y2H Array	25910212
Intra	FDFT1	P37268	CREB3	Homo sapiens	O43889-2	Y2H Bait-Prey Pool	25910212
Intra	FDFT1	P37268	CREB3	Homo sapiens	O43889-2	Validated Y2H	25910212
Intra	FDFT1	P37268	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
Intra	FDFT1	P37268	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	TMX2	Homo sapiens	Q9Y320	Validated Y2H	32296183
Intra	FDFT1	P37268	PANX1	Homo sapiens	Q96RD7	Y2H Array	32296183
Intra	FDFT1	P37268	PANX1	Homo sapiens	Q96RD7	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	PANX1	Homo sapiens	Q96RD7	Validated Y2H	32296183
Intra	FDFT1	P37268	CD79A	Homo sapiens	P11912	Y2H Prey Pooling	32296183
Intra	FDFT1	P37268	CD79A	Homo sapiens	P11912	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FDFT1 Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P72193	FDFT1 Protein, Human (His)	P37268-1 (E2-H417)	≥ 90%, as determined by reducing SDS-PAGE.

FDFT1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P81002	FDFT1 Antibody (YA3512)	WB, IHC-P, ICC/IF, IP	Human, Mouse, Rat

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

Pre-clinical Phase

Bioactive Molecules (5)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-100313A	YM-53601	Inhibitor	99.37%	Unkown
HY-100313	YM-53601 free base	Inhibitor	/	Unkown
HY-RS04852	FDFT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16915	Fdft1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23357	Fdft1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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