• Gene id: 2222

Gene Summary

• Gene Symbol: FDFT1   Gene   UCSC   Ensembl
• Aliases: DGPT, ERG9, SQS, SQSD, SS
• Gene name: farnesyl-diphosphate farnesyltransferase 1
• Alternate names: squalene synthase, FPP:FPP farnesyltransferase, presqualene-di-diphosphate synthase, squalene synthetase,
• Gene location: 8p23.1 (11795572: 11839308)     Exons: 14     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 184420

Protein Summary

• Protein general information: P37268  
  • Name: Squalene synthase (SQS) (SS) (EC 2.5.1.21) (FPP:FPP farnesyltransferase) (Farnesyl diphosphate farnesyltransferase)
  • Length: 417  
  • Mass: 48115
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MEFVKCLGHPEEFYNLVRFRIGGKRKVMPKMDQDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLV
  LRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTISLEFRNLAEKYQTVIADICRRM
  GIGMAEFLDKHVTSEQEWDKYCHYVAGLVGIGLSRLFSASEFEDPLVGEDTERANSMGLFLQKTNIIRDYLEDQQ
  GGREFWPQEVWSRYVKKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQVMAIATL
  AACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTRQIISTIRTQNLPNCQ
  LISRSHYSPIYLSFVMLLAALSWQYLTTLSQVTEDYVQTGEH

• Structural information:
  • Interpro: IPR008949  IPR002060  IPR006449  IPR019845  IPR033904  
  • Prosite: PS01044 PS01045
  • CDD: cd00683
  • PDB: 1EZF 3ASX 3LEE 3Q2Z 3Q30 3V66 3VJ8 3VJ9 3VJA 3VJB 3VJC 3WC9 3WCD 3WCF 3WCH 3WCI 3WCJ 3WCL 3WCM 3WEF 3WEG 3WEH 3WEI 3WEJ 3WEK 3WSA 6PYV 6PYW 6PZ5
  • PDBsum: 1EZF 3ASX 3LEE 3Q2Z 3Q30 3V66 3VJ8 3VJ9 3VJA 3VJB 3VJC 3WC9 3WCD 3WCF 3WCH 3WCI 3WCJ 3WCL 3WCM 3WEF 3WEG 3WEH 3WEI 3WEJ 3WEK 3WSA 6PYV 6PYW 6PZ5
  • STRING: ENSP00000480828
• Other Databases: GeneCards:  FDFT1  Malacards:  FDFT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051996	squalene synthase activity	IBA	molecular function
GO:0006695	cholesterol biosynthetic process	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0004310	farnesyl-diphosphate farnesyltransferase activity	IBA	molecular function
GO:0045338	farnesyl diphosphate metabolic process	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0004310	farnesyl-diphosphate farnesyltransferase activity	IEA	molecular function
GO:0008610	lipid biosynthetic process	IEA	biological process
GO:0009058	biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0051996	squalene synthase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016765	transferase activity, transferring alkyl or aryl (other than methyl) groups	IEA	molecular function
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006694	steroid biosynthetic process	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0051996	squalene synthase activity	IEA	molecular function
GO:0004310	farnesyl-diphosphate farnesyltransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881