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Details on Person UniProt:P37268 FDFT1
| Class:Id | ReferenceGeneProduct:54742 |
|---|---|
| _chainChangeLog | chain:1-417 added on Fri February 6 2015 |
| _displayName | UniProt:P37268 FDFT1 |
| _timestamp | 2025-02-21 19:59:05 |
| chain | chain:1-417 |
| checksum | D36CBC8382F827EC |
| comment | FUNCTION Catalyzes the condensation of 2 farnesyl pyrophosphate (FPP) moieties to form squalene. Proceeds in two distinct steps. In the first half-reaction, two molecules of FPP react to form the stable presqualene diphosphate intermediate (PSQPP), with concomitant release of a proton and a molecule of inorganic diphosphate. In the second half-reaction, PSQPP undergoes heterolysis, isomerization, and reduction with NADPH or NADH to form squalene. It is the first committed enzyme of the sterol biosynthesis pathway.CATALYTIC ACTIVITY 2 (2E,6E)-farnesyl diphosphate + NADPH + H(+) = squalene + 2 diphosphate + NADP(+)CATALYTIC ACTIVITY 2 (2E,6E)-farnesyl diphosphate + NADH + H(+) = squalene + 2 diphosphate + NAD(+)CATALYTIC ACTIVITY 2 (2E,6E)-farnesyl diphosphate = presqualene diphosphate + diphosphateCATALYTIC ACTIVITY presqualene diphosphate + NADH + H(+) = squalene + diphosphate + NAD(+)CATALYTIC ACTIVITY presqualene diphosphate + NADPH + H(+) = squalene + diphosphate + NADP(+)COFACTOR Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 1/3.INTERACTION Widely expressed.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the phytoene/squalene synthase family. |
| description | recommendedName: Squalene synthase shortName: SQS shortName: SS ecNumber evidence="3 6"2.5.1.21 alternativeName: FPP:FPP farnesyltransferase alternativeName: Farnesyl-diphosphate farnesyltransferase alternativeName: fullName evidence="12"Farnesyl-diphosphate farnesyltransferase 1 |
| geneName | FDFT1 |
| identifier | P37268 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Cholesterol biosynthesis Cholesterol metabolism Endoplasmic reticulum Lipid biosynthesis Lipid metabolism Magnesium Membrane Metal-binding Multifunctional enzyme NAD NADP Proteomics identification Reference proteome Steroid biosynthesis Steroid metabolism Sterol biosynthesis Sterol metabolism Transferase Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | FDFT1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:2393983] ENSEMBL:ENSG00000079459 FDFT1 [Homo sapiens] |
| secondaryIdentifier | FDFT_HUMAN B3KQ95 B4DJE5 B4DT56 B7Z1J3 Q96GT0 |
| sequenceLength | 417 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8969187] UniProt:P37268-1 FDFT1 [Homo sapiens] [ReferenceIsoform:8969188] UniProt:P37268-2 FDFT1 [Homo sapiens] [ReferenceIsoform:8969189] UniProt:P37268-3 FDFT1 [Homo sapiens] [ReferenceIsoform:8969190] UniProt:P37268-4 FDFT1 [Homo sapiens] [ReferenceIsoform:8969191] UniProt:P37268-5 FDFT1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:191369] FDFT1 [endoplasmic reticulum membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:P37268 FDFT1 (54742)
