Gene/Proteome Database (LMPD)

LMPD ID
LMP001645
Gene ID
2222
Species
Homo sapiens (Human)
Gene Name
farnesyl-diphosphate farnesyltransferase 1
Gene Symbol
FDFT1
Synonyms
DGPT; ERG9; SQS; SS
Alternate Names
squalene synthase; squalene synthetase; FPP:FPP farnesyltransferase; presqualene-di-diphosphate synthase
Chromosome
8
Map Location
8p23.1-p22
EC Number
2.5.1.21
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]
Orthologs
View orthologs and multiple alignments for FDFT1

Proteins

squalene synthase isoform 1
Refseq ID NP_001274671
Protein GI 567757574
UniProt ID Q6IAX1
mRNA ID NM_001287742
Length 417
RefSeq Status VALIDATED
MEFVKCLGHPEEFYNLVRFRIGGKRKVMPKMDQDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKYCHYVAGLVGIGLSRLFSASEFEDPLVGEDTERANSMGLFLQKTNIIRDYLEDQQGGREFWPQEVWSRYVKKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQVMAIATLAACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTRQIISTIRTQNLPNCQLISRSHYSPIYLSFVMLLAALSWQYLTTLSQVTEDYVQTGEH
squalene synthase isoform 1
Refseq ID NP_001274672
Protein GI 567757576
UniProt ID Q6IAX1
mRNA ID NM_001287743
Length 417
RefSeq Status VALIDATED
Protein sequence is identical to GI:567757574 (mRNA isoform)
squalene synthase isoform 1
Refseq ID NP_004453
Protein GI 67089147
UniProt ID Q6IAX1
mRNA ID NM_004462
Length 417
RefSeq Status VALIDATED
Protein sequence is identical to GI:567757574 (mRNA isoform)
squalene synthase isoform 2
Refseq ID NP_001274673
Protein GI 567757579
UniProt ID P37268
mRNA ID NM_001287744
Length 353
RefSeq Status VALIDATED
MRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKYCHYVAGLVGIGLSRLFSASEFEDPLVGEDTERANSMGLFLQKTNIIRDYLEDQQGGREFWPQEVWSRYVKKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQVMAIATLAACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTRQIISTIRTQNLPNCQLISRSHYSPIYLSFVMLLAALSWQYLTTLSQVTEDYVQTGEH
squalene synthase isoform 2
Refseq ID NP_001274677
Protein GI 567757585
UniProt ID P37268
mRNA ID NM_001287748
Length 353
RefSeq Status VALIDATED
Protein sequence is identical to GI:567757579 (mRNA isoform)
squalene synthase isoform 2
Refseq ID NP_001274674
Protein GI 567757581
UniProt ID P37268
mRNA ID NM_001287745
Length 353
RefSeq Status VALIDATED
Protein sequence is identical to GI:567757579 (mRNA isoform)
squalene synthase isoform 2
Refseq ID NP_001274676
Protein GI 567757583
UniProt ID P37268
mRNA ID NM_001287747
Length 353
RefSeq Status VALIDATED
Protein sequence is identical to GI:567757579 (mRNA isoform)
squalene synthase isoform 2
Refseq ID NP_001274678
Protein GI 567757587
UniProt ID P37268
mRNA ID NM_001287749
Length 353
RefSeq Status VALIDATED
Protein sequence is identical to GI:567757579 (mRNA isoform)
squalene synthase isoform 3
Refseq ID NP_001274679
Protein GI 567757587
UniProt ID P37268
mRNA ID NM_001287750
Length 353
RefSeq Status VALIDATED
Protein sequence is identical to GI:567757579 (mRNA isoform)
squalene synthase isoform 4
Refseq ID NP_001274680
Protein GI 567757591
UniProt ID P37268
mRNA ID NM_001287751
Length 332
RefSeq Status VALIDATED
MTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKYCHYVAGLVGIGLSRLFSASEFEDPLVGEDTERANSMGLFLQKTNIIRDYLEDQQGGREFWPQEVWSRYVKKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQVMAIATLAACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTRQIISTIRTQNLPNCQLISRSHYSPIYLSFVMLLAALSWQYLTTLSQVTEDYVQTGEH
squalene synthase isoform 5
Refseq ID NP_001274685
Protein GI 567757597
UniProt ID P37268
mRNA ID NM_001287756
Length 250
RefSeq Status VALIDATED
MPWPPRRVLQPGALPDRGQAEASEFEDPLVGEDTERANSMGLFLQKTNIIRDYLEDQQGGREFWPQEVWSRYVKKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQVMAIATLAACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTRQIISTIRTQNLPNCQLISRSHYSPIYLSFVMLLAALSWQYLTTLSQVTEDYVQTGEH

Gene Information

Entrez Gene ID
2222
Gene Name
farnesyl-diphosphate farnesyltransferase 1
Gene Symbol
FDFT1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005783 IDA:HPA C endoplasmic reticulum
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0016021 TAS:ProtInc C integral component of membrane
GO:0004310 TAS:Reactome F farnesyl-diphosphate farnesyltransferase activity
GO:0016491 IEA:UniProtKB-KW F oxidoreductase activity
GO:0051996 IEA:UniProtKB-EC F squalene synthase activity
GO:0044255 TAS:Reactome P cellular lipid metabolic process
GO:0006695 TAS:Reactome P cholesterol biosynthetic process
GO:0008299 IEA:UniProtKB-KW P isoprenoid biosynthetic process
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0006694 TAS:ProtInc P steroid biosynthetic process

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_147904 Activation of gene expression by SREBF (SREBP)

Domain Information

InterPro Annotations

Accession Description
IPR006449 Farnesyl-diphosphate farnesyltransferase
IPR008949 Isoprenoid synthase domain
IPR002060 Squalene/phytoene synthase
IPR019845 Squalene/phytoene synthase, conserved site

UniProt Annotations

Entry Information

Gene Name
farnesyl-diphosphate farnesyltransferase 1
Protein Entry
FDFT_HUMAN
UniProt ID
Q6IAX1
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=P37268-1; Sequence=Displayed; Name=2; IsoId=P37268-2; Sequence=VSP_056283; Note=No experimental confirmation available.; Name=3; IsoId=P37268-3; Sequence=VSP_056282; Note=No experimental confirmation available.; Name=4; IsoId=P37268-4; Sequence=VSP_056517; Note=No experimental confirmation available.; Name=5; IsoId=P37268-5; Sequence=VSP_056518; Note=No experimental confirmation available.;
Catalytic Activity 2 farnesyl diphosphate + NAD(P)H = squalene + 2 diphosphate + NAD(P)(+).
Cofactor Name=Mg(2+); Xref=ChEBI
Pathway Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 1/3.
Similarity Belongs to the phytoene/squalene synthase family.
Subcellular Location Endoplasmic reticulum membrane; Multi-pass membrane protein.
Subunit Monomer.

Identical and Related Proteins

Unique RefSeq proteins for LMP001645 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
567757574 RefSeq NP_001274671 417 squalene synthase isoform 1
567757579 RefSeq NP_001274673 353 squalene synthase isoform 2
567757591 RefSeq NP_001274680 332 squalene synthase isoform 4
567757597 RefSeq NP_001274685 250 squalene synthase isoform 5

Identical Sequences to LMP001645 proteins

Reference Database Accession Length Protein Name
GI:567757597 DBBJ BAG63102.1 250 unnamed protein product [Homo sapiens]
GI:567757591 DBBJ BAG61868.1 332 unnamed protein product [Homo sapiens]
GI:567757591 DBBJ BAH14905.1 332 unnamed protein product [Homo sapiens]
GI:567757579 DBBJ BAH14364.1 353 unnamed protein product [Homo sapiens]
GI:567757579 DBBJ BAH14722.1 353 unnamed protein product [Homo sapiens]
GI:567757574 GenBank JAA43791.1 417 farnesyl-diphosphate farnesyltransferase 1 [Pan troglodytes]
GI:567757574 GenBank AHD77058.1 417 Sequence 22191 from patent US 8586006
GI:567757574 GenBank AIC54385.1 417 FDFT1, partial [synthetic construct]
GI:567757574 GenBank AIC62996.1 417 FDFT1, partial [synthetic construct]
GI:567757574 RefSeq NP_001274672.1 417 squalene synthase isoform 1 [Homo sapiens]
GI:567757579 RefSeq NP_001274674.1 353 squalene synthase isoform 2 [Homo sapiens]
GI:567757579 RefSeq NP_001274676.1 353 squalene synthase isoform 2 [Homo sapiens]
GI:567757579 RefSeq NP_001274677.1 353 squalene synthase isoform 2 [Homo sapiens]
GI:567757579 RefSeq NP_001274678.1 353 squalene synthase isoform 2 [Homo sapiens]
GI:567757574 RefSeq XP_009438498.1 417 PREDICTED: squalene synthase isoform X3 [Pan troglodytes]
GI:567757591 RefSeq XP_009438500.1 332 PREDICTED: squalene synthase isoform X4 [Pan troglodytes]
GI:567757591 RefSeq XP_009438501.1 332 PREDICTED: squalene synthase isoform X4 [Pan troglodytes]

Related Sequences to LMP001645 proteins

Reference Database Accession Length Protein Name
GI:567757579 GenBank AAH03573.1 417 Farnesyl-diphosphate farnesyltransferase 1 [Homo sapiens]
GI:567757591 GenBank AAH03573.1 417 Farnesyl-diphosphate farnesyltransferase 1 [Homo sapiens]
GI:567757574 GenBank AAH09251.1 417 Farnesyl-diphosphate farnesyltransferase 1 [Homo sapiens]
GI:567757579 GenBank AAH09251.1 417 Farnesyl-diphosphate farnesyltransferase 1 [Homo sapiens]
GI:567757591 GenBank AAH09251.1 417 Farnesyl-diphosphate farnesyltransferase 1 [Homo sapiens]
GI:567757597 GenBank AAH09251.1 417 Farnesyl-diphosphate farnesyltransferase 1 [Homo sapiens]
GI:567757574 GenBank AAP36671.1 418 Homo sapiens farnesyl-diphosphate farnesyltransferase 1, partial [synthetic construct]
GI:567757597 GenBank AAR77057.1 417 Sequence 4 from patent US 6649385
GI:567757579 GenBank AAR77057.1 417 Sequence 4 from patent US 6649385
GI:567757591 GenBank AAR77057.1 417 Sequence 4 from patent US 6649385
GI:567757579 GenBank AAR77058.1 417 Sequence 5 from patent US 6649385
GI:567757591 GenBank AAR77058.1 417 Sequence 5 from patent US 6649385
GI:567757574 GenBank AAX43943.1 418 farnesyl-diphosphate farnesyltransferase 1, partial [synthetic construct]
GI:567757574 GenBank AAX43944.1 418 farnesyl-diphosphate farnesyltransferase 1, partial [synthetic construct]
GI:567757574 GenBank ACM86126.1 436 Sequence 11624 from patent US 6812339
GI:567757591 GenBank JAA09190.1 417 farnesyl-diphosphate farnesyltransferase 1 [Pan troglodytes]
GI:567757579 GenBank JAA09190.1 417 farnesyl-diphosphate farnesyltransferase 1 [Pan troglodytes]
GI:567757574 GenBank AIC54384.1 417 FDFT1, partial [synthetic construct]
GI:567757591 GenBank AIC54384.1 417 FDFT1, partial [synthetic construct]
GI:567757579 GenBank AIC54384.1 417 FDFT1, partial [synthetic construct]
GI:567757597 GenBank AIC54384.1 417 FDFT1, partial [synthetic construct]
GI:567757597 RefSeq XP_008968069.1 250 PREDICTED: squalene synthase isoform X2 [Pan paniscus]
GI:567757597 RefSeq XP_009241806.1 250 PREDICTED: squalene synthase isoform X2 [Pongo abelii]
GI:567757597 RefSeq XP_009438502.1 250 PREDICTED: squalene synthase isoform X5 [Pan troglodytes]