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farnesyl-diphosphate farnesyltransferase 1

Summary

Gene Symbol

FDFT1

Aliases

SQS
squalene synthase

Organism

Homo sapiens (human)

External Links

NCBI Gene

2222

HGNC

3629

KEGG Gene ID

hsa:2222

PubChem

2222

Alliance of Genome Resources

HGNC:3629

Annotation

Keyword

3D-structure
Alternative splicing
Cholesterol biosynthesis
Endoplasmic reticulum
Magnesium
Metal-binding
Multifunctional enzyme
NAD
NADP
Proteomics identification
Reference proteome
Transferase
Transmembrane helix

Proteins

Displaying **all 6** entries
UniProt	Protein Name
P37268	FPP:FPP farnesyltransferase Farnesyl-diphosphate farnesyltransferase Farnesyl-diphosphate farnesyltransferase 1
Q6IAX1
B7Z9R8
B4DWP0	FPP:FPP farnesyltransferase Farnesyl-diphosphate farnesyltransferase
A0A1W2PQ47
B4DND3

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
cholesterol biosynthetic process	IBA
farnesyl diphosphate metabolic process	IBA
steroid biosynthetic process		8474436

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

farnesyl diphosphate metabolic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

farnesyl diphosphate metabolic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

farnesyl diphosphate metabolic process

isoprenoid metabolic process [inference]

terpenoid metabolic process [inference]

farnesyl diphosphate metabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

farnesyl diphosphate metabolic process

isoprenoid metabolic process [inference]

terpenoid metabolic process [inference]

farnesyl diphosphate metabolic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

farnesyl diphosphate metabolic process

isoprenoid metabolic process [inference]

terpenoid metabolic process [inference]

farnesyl diphosphate metabolic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

farnesyl diphosphate metabolic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

farnesyl diphosphate metabolic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

farnesyl diphosphate metabolic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

farnesyl diphosphate metabolic process

isoprenoid metabolic process [inference]

terpenoid metabolic process [inference]

farnesyl diphosphate metabolic process

Displaying **all 3** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA
endoplasmic reticulum membrane	IBA ISS TAS
membrane		8474436

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying **all 5** entries
GO Term	Evidence Code	PMID
squalene synthase activity	IBA
farnesyltranstransferase activity	IEA
metal ion binding	IEA
protein binding	IPI	25910212 32296183
farnesyl-diphosphate farnesyltransferase activity	IBA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring alkyl or aryl (other than methyl) groups [inference]

prenyltransferase activity [inference]

farnesyltranstransferase activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000079459

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00801

Name

farnesyl-diphosphate farnesyltransferase [EC:2.5.1.21]

References

Rhea

RHEA:32295

H⁺ + (2E,6E)-farnesyl diphosphate + NADPH

squalene + diphosphate + NADP⁺

Enzyme

2.5.1.21

PMID

RHEA:32299

H⁺ + (2E,6E)-farnesyl diphosphate + NADH

squalene + diphosphate + NAD⁺

Enzyme

2.5.1.21

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 49 in total

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DO ID	Disease Name	Source
DOID:0050452	mevalonic aciduria	DisGeNET DisGeNET DisGeNET
DOID:0060292	X-linked chondrodysplasia punctata 1	DisGeNET
DOID:0080352	X-linked chondrodysplasia punctata 2	DisGeNET
DOID:10283	prostate cancer	DisGeNET DisGeNET DisGeNET
DOID:10286	prostate carcinoma	DisGeNET DisGeNET DisGeNET
DOID:1059	intellectual disability	DisGeNET
DOID:114	heart disease	DisGeNET
DOID:1168	familial hyperlipidemia	DisGeNET
DOID:11832	visual epilepsy	DisGeNET
DOID:11981	morbid obesity	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 31 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000047	Hypospadias
HP:0000278	Retrognathia
HP:0000286	Epicanthus
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000400	Macrotia
HP:0000609	Optic nerve hypoplasia
HP:0000737	Irritability

Displaying 1 entry
Disease ID	Disease Name
OMIM:618156	squalene synthase deficiency

PubChem Disease

MedGen Diseases

Squalene synthase deficiency

OMIM Phenotypes

SQUALENE SYNTHASE DEFICIENCY; SQSD

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP001645
Gene Name: farnesyl-diphosphate farnesyltransferase 1

Ortholog

Displaying entries **1 - 10** of 71 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Callorhinchus milii	103171628		CALMI45847
Danio rerio	571911	ZFIN:ZDB-GENE-081104-242	DANRE20007
Ictalurus punctatus	108258919		ICTPU25740
Electrophorus electricus	113572100		ELEEL04196
Salmo trutta	115190294		SALTR24002
Gadus morhua	115534017		GADMO32990
Oryzias latipes	101165780		ORYLA11817
Oreochromis niloticus	100709794		ORENI18242
Sparus aurata	115573944		SPAAU60733
Xenopus laevis	108717235	Xenbase:XB-GENE-17346517

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements