Details of Protein

General Information of Protein (ID: PRT00877)
Name Squalene synthase (FDFT1)
Synonyms   Click to Show/Hide Synonyms of This Protein
SQS; SS; FPP:FPP farnesyltransferase; Farnesyl-diphosphate farnesyltransferase; Farnesyl-diphosphate farnesyltransferase 1; FDFT1
Gene Name FDFT1 Gene ID
2222
UniProt ID
P37268
Family Transferases (EC 2)
EC Number   EC: 2.5.1.21  (Click to Show/Hide the Complete EC Tree)
Transferase
Alkyl/aryl transferase
Alkyl/aryl transferase
EC: 2.5.1.21
  Click to Show/Hide the Molecular/Functional Data (Sequence/Structure/Function) of This Protein
Sequence
MEFVKCLGHPEEFYNLVRFRIGGKRKVMPKMDQDSLSSSLKTCYKYLNQTSRSFAAVIQA
LDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQ
VLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKYCHYVAGLVG
IGLSRLFSASEFEDPLVGEDTERANSMGLFLQKTNIIRDYLEDQQGGREFWPQEVWSRYV
KKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQVMAIATL
AACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTR
QIISTIRTQNLPNCQLISRSHYSPIYLSFVMLLAALSWQYLTTLSQVTEDYVQTGEH
Structure
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 ; 6PYJ ; 6PYV ; 6PYW ; 6PZ5
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.
Regulatory Network
Full List of Metabolite(s) Regulated by This Protein
      Lipid-related molecules
            HDL cholesterol Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation of FDFT1
                      Induced Change HDL cholesterol concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the decrease of HDL cholesterol levels compared with control group.
            LDL cholesterol Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation of FDFT1
                      Induced Change LDL cholesterol concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the decrease of LDL cholesterol levels compared with control group.
      Lipids and lipid-like molecules
            2,6-Dimethylhept-2-enedioic acid Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Mutation of FDFT1
                      Induced Change 2,6-Dimethylhept-2-enedioic acid concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the increase of 2,6-dimethylhept-2-enedioic acid levels compared with control group.
            3-Methylhex-2-enedioic acid Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Mutation of FDFT1
                      Induced Change 3-Methylhex-2-enedioic acid concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the increase of 3-methylhex-2-enedioic acid levels compared with control group.
            Cholesterol Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation of FDFT1
                      Induced Change Cholesterol concentration: decrease
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the decrease of cholesterol levels compared with control group.
            Farnesol Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation of FDFT1
                      Induced Change Farnesol concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the increase of farnesol levels compared with control group.
            Methylsuccinic acid Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Mutation of FDFT1
                      Induced Change Methylsuccinic acid concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the increase of methylsuccinic acid levels compared with control group.
            Mevalonic acid Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Mutation of FDFT1
                      Induced Change Mevalonic acid concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the increase of mevalonic acid levels compared with control group.
      Organic acids
            3-Methylhex-2,4-dienedioic acid Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Mutation of FDFT1
                      Induced Change 3-Methylhex-2,4-dienedioic acid concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the increase of 3-methylhex-2,4-dienedioic acid levels compared with control group.
            3-Methylhex-3,4-dienedioic acid Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Mutation of FDFT1
                      Induced Change 3-Methylhex-3,4-dienedioic acid concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the increase of 3-methylhex-3,4-dienedioic acid levels compared with control group.
      Organic acids and derivatives
            2,6-Octadienoic acid, 3,7-dimethyl-, ethyl ester Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Mutation of FDFT1
                      Induced Change 2,6-Octadienoic acid, 3,7-dimethyl-, ethyl ester concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Lipid metabolism disorders [ICD-11: 5C52]
                      Details It is reported that mutation (patients with variants in FDFT1) of FDFT1 leads to the increase of 2,6-octadienoic acid, 3,7-dimethyl-, ethyl ester levels compared with control group.
References
1 Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. Am J Hum Genet. 2018 Jul 5;103(1):125-130.
2 Squalene Synthase Deficiency.

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