2. Gene
  3. FDFT1 - farnesyl-diphosphate farnesyltransferase 1 Gene

FDFT1 - farnesyl-diphosphate farnesyltransferase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

SQS_PSY: Squalene/phytoene synthase (48 - 318)

  • 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 Reference
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

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

FDFT1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81002 FDFT1 Antibody 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
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