FDFT1
entrez
2222
canonical
uniprot
P37268
canonical
ensembl
ENSG00000079459
resolver
ensembl
ENSG00000284967
resolver
ensp
ENSP00000220584
resolver
ensp
ENSP00000431649
resolver
ensp
ENSP00000431749
resolver
ensp
ENSP00000432331
resolver
ensp
ENSP00000481481
resolver
ensp
ENSP00000484122
resolver
ensp
ENSP00000491537
resolver
ensp
ENSP00000518481
resolver
ensp
ENSP00000536164
resolver
enst
ENST00000525954
resolver
enst
ENST00000710779
resolver
genesymbol
FDFT1
resolver
hgnc
HGNC:3629
resolver
uniprot
A0A1W2PQ47
resolver
uniprot
A0AB56JFL4
resolver
uniprot
B3KQ95
resolver
uniprot
B4DJE5
resolver
uniprot
B4DND3
resolver
uniprot
B4DT56
resolver
uniprot
B4DWP0
resolver
uniprot
B7Z1J3
resolver
uniprot
B7Z9R8
resolver
uniprot
Q6IAX1
resolver
uniprot
Q96GT0
resolver
uniprot_entry
A0A1W2PQ47_HUMAN
resolver
uniprot_entry
A0AB56JFL4_HUMAN
resolver
uniprot_entry
B4DND3_HUMAN
resolver
uniprot_entry
B4DWP0_HUMAN
resolver
uniprot_entry
B7Z9R8_HUMAN
resolver
uniprot_entry
FDFT_HUMAN
resolver
uniprot_entry
Q6IAX1_HUMAN
resolver
uniprot_sec
B3KQ95
resolver
uniprot_sec
B4DJE5
resolver
uniprot_sec
B4DT56
resolver
uniprot_sec
B7Z1J3
resolver
uniprot_sec
Q96GT0
resolver
amino_acid_sequence
MEFVKCLGHPEEFYNLVRFRIGGKRKVMPKMDQDSLSSSLKTCYKYLNQTSRSFAAVIQALDGEMRNAVCIFYLVLRALDTLEDDMTISVEKKVPLLHNFHSFLYQPDWRFMESKEKDRQVLEDFPTISLEFRNLAEKYQTVIADICRRMGIGMAEFLDKHVTSEQEWDKYCHYVAGLVGIGLSRLFSASEFEDPLVGEDTERANSMGLFLQKTNIIRDYLEDQQGGREFWPQEVWSRYVKKLGDFAKPENIDLAVQCLNELITNALHHIPDVITYLSRLRNQSVFNFCAIPQVMAIATLAACYNNQQVFKGAVKIRKGQAVTLMMDATNMPAVKAIIYQYMEEIYHRIPDSDPSSSKTRQIISTIRTQNLPNCQLISRSHYSPIYLSFVMLLAALSWQYLTTLSQVTEDYVQTGEH
uniprot
proteins
disease_involvement
DISEASE: Squalene synthase deficiency (SQSD) [MIM:618156]: An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, facial dysmorphisms, low total and LDL-cholesterol, and abnormal urine organic acids. {ECO:0000269|PubMed:29909962}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.21
uniprot
proteins
function
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. {ECO:0000269|PubMed:10896663, ECO:0000269|PubMed:24531458}.
uniprot
proteins
mass_dalton
48115
uniprot
proteins
pathway_participation
PATHWAY: Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 1/3. {ECO:0000305}.
uniprot
proteins
protein_family
Phytoene/squalene synthase family
uniprot
proteins
pubmed
10896663
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
18350552
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24531458
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29909962
uniprot
proteins
pubmed
7685352
uniprot
proteins
pubmed
7864626
uniprot
proteins
pubmed
8294001
uniprot
proteins
pubmed
8474436
uniprot
proteins
sequence_length
417
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q02769}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 284..304; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 384..404; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins