LOCUS       NM_004462               2035 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens farnesyl-diphosphate farnesyltransferase 1 (FDFT1),
            transcript variant 3, mRNA.
ACCESSION   NM_004462
VERSION     NM_004462.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2035)
  AUTHORS   Kanmalar,M., Kamal,R., Abdul Sani,S.F., Pathmanathan,D., Bm
            Said,N.A., Paramanantham,Y., Abd Jamil,A.H., Mun,K.S.,
            Kuppusamy,S., Almugren,K.S., Almajid,H.F. and Bradley,D.A.
  TITLE     Spectroscopic diagnosis and metabolite characterization of
            cisplatin resistance regulated by FDFT1 in bladder cancer tissue
  JOURNAL   Appl Radiat Isot 210, 111372 (2024)
   PUBMED   38810354
  REMARK    GeneRIF: Spectroscopic diagnosis and metabolite characterization of
            cisplatin resistance regulated by FDFT1 in bladder cancer tissue.
REFERENCE   2  (bases 1 to 2035)
  AUTHORS   Avci,D., Heidasch,R., Costa,M., Luchtenborg,C., Kale,D., Brugger,B.
            and Lemberg,M.K.
  TITLE     Intramembrane protease SPP defines a cholesterol-regulated
            abundance control of the mevalonate pathway enzyme squalene
            synthase
  JOURNAL   J Biol Chem 300 (2), 105644 (2024)
   PUBMED   38218226
  REMARK    GeneRIF: Intramembrane protease SPP defines a cholesterol-regulated
            abundance control of the mevalonate pathway enzyme squalene
            synthase.
REFERENCE   3  (bases 1 to 2035)
  AUTHORS   Jiang,H., Tang,E., Chen,Y., Liu,H., Zhao,Y., Lin,M. and He,L.
  TITLE     Squalene synthase predicts poor prognosis in stage I-III colon
            adenocarcinoma and synergizes squalene epoxidase to promote tumor
            progression
  JOURNAL   Cancer Sci 113 (3), 971-985 (2022)
   PUBMED   34939274
  REMARK    GeneRIF: Squalene synthase predicts poor prognosis in stage I-III
            colon adenocarcinoma and synergizes squalene epoxidase to promote
            tumor progression.
REFERENCE   4  (bases 1 to 2035)
  AUTHORS   Nakae,A., Kodama,M., Okamoto,T., Tokunaga,M., Shimura,H.,
            Hashimoto,K., Sawada,K., Kodama,T., Copeland,N.G., Jenkins,N.A. and
            Kimura,T.
  TITLE     Ubiquitin specific peptidase 32 acts as an oncogene in epithelial
            ovarian cancer by deubiquitylating farnesyl-diphosphate
            farnesyltransferase 1
  JOURNAL   Biochem Biophys Res Commun 552, 120-127 (2021)
   PUBMED   33744759
  REMARK    GeneRIF: Ubiquitin specific peptidase 32 acts as an oncogene in
            epithelial ovarian cancer by deubiquitylating farnesyl-diphosphate
            farnesyltransferase 1.
REFERENCE   5  (bases 1 to 2035)
  AUTHORS   Weng,M.L., Chen,W.K., Chen,X.Y., Lu,H., Sun,Z.R., Yu,Q., Sun,P.F.,
            Xu,Y.J., Zhu,M.M., Jiang,N., Zhang,J., Zhang,J.P., Song,Y.L.,
            Ma,D., Zhang,X.P. and Miao,C.H.
  TITLE     Fasting inhibits aerobic glycolysis and proliferation in colorectal
            cancer via the Fdft1-mediated AKT/mTOR/HIF1alpha pathway
            suppression
  JOURNAL   Nat Commun 11 (1), 1869 (2020)
   PUBMED   32313017
  REMARK    GeneRIF: FDFT1 is a key downstream target of the fasting response
            and may be involved in CRC cell glucose metabolism.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2035)
  AUTHORS   Guan,G., Jiang,G., Koch,R.L. and Shechter,I.
  TITLE     Molecular cloning and functional analysis of the promoter of the
            human squalene synthase gene
  JOURNAL   J Biol Chem 270 (37), 21958-21965 (1995)
   PUBMED   7665618
REFERENCE   7  (bases 1 to 2035)
  AUTHORS   Soltis,D.A., McMahon,G., Caplan,S.L., Dudas,D.A., Chamberlin,H.A.,
            Vattay,A., Dottavio,D., Rucker,M.L., Engstrom,R.G.,
            Cornell-Kennon,S.A. et al.
  TITLE     Expression, purification, and characterization of the human
            squalene synthase: use of yeast and baculoviral systems
  JOURNAL   Arch Biochem Biophys 316 (2), 713-723 (1995)
   PUBMED   7864626
REFERENCE   8  (bases 1 to 2035)
  AUTHORS   Shechter,I., Conrad,D.G., Hart,I., Berger,R.C., McKenzie,T.L.,
            Bleskan,J. and Patterson,D.
  TITLE     Localization of the squalene synthase gene (FDFT1) to human
            chromosome 8p22-p23.1
  JOURNAL   Genomics 20 (1), 116-118 (1994)
   PUBMED   8020937
REFERENCE   9  (bases 1 to 2035)
  AUTHORS   Jiang,G., McKenzie,T.L., Conrad,D.G. and Shechter,I.
  TITLE     Transcriptional regulation by lovastatin and 25-hydroxycholesterol
            in HepG2 cells and molecular cloning and expression of the cDNA for
            the human hepatic squalene synthase
  JOURNAL   J Biol Chem 268 (17), 12818-12824 (1993)
   PUBMED   7685352
REFERENCE   10 (bases 1 to 2035)
  AUTHORS   Coman,D., Vissers,L., Waterham,H., Christodoulou,J., Wevers,R.A.
            and Pitt,J.
  TITLE     Squalene Synthase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   32027475
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC069185.7.
            
            On Nov 23, 2018 this sequence version replaced NM_004462.4.
            
            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].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1-3 encode the same isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: X69141.1, SRR3476690.203764.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000220584.9/ ENSP00000220584.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-191               AC069185.7         126658-126848
            192-289             AC069185.7         132711-132808
            290-473             AC069185.7         133584-133767
            474-602             AC069185.7         145667-145795
            603-794             AC069185.7         149941-150132
            795-971             AC069185.7         154161-154337
            972-1124            AC069185.7         155435-155587
            1125-2035           AC069185.7         162305-163215
FEATURES             Location/Qualifiers
     source          1..2035
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p23.1"
     gene            1..2035
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /note="farnesyl-diphosphate farnesyltransferase 1"
                     /db_xref="GeneID:2222"
                     /db_xref="HGNC:HGNC:3629"
                     /db_xref="MIM:184420"
     exon            1..191
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /inference="alignment:Splign:2.1.0"
     exon            192..289
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /inference="alignment:Splign:2.1.0"
     exon            290..473
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /inference="alignment:Splign:2.1.0"
     exon            474..602
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /inference="alignment:Splign:2.1.0"
     exon            603..794
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /inference="alignment:Splign:2.1.0"
     exon            795..971
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /inference="alignment:Splign:2.1.0"
     exon            972..1124
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..2035
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1376..1381
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /note="hexamer: CATAAA"
     polyA_site      1404
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /note="major polyA site"
     regulatory      1679..1684
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /note="hexamer: ATTAAA"
     polyA_site      1705
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /note="major polyA site"
     regulatory      2012..2017
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /note="hexamer: AATAAA"
     polyA_site      2035
                     /gene="FDFT1"
                     /gene_synonym="DGPT; ERG9; SQS; SQSD; SS"
                     /note="major polyA site"
ORIGIN      
        1 gaagcaccta ctccacaggt ccagccggcc ggtgagcgcc tggggaccgc agaggtgaga
       61 gtcgcgcccg ggagtccgcc gcctgcgcca ggatggagtt cgtgaaatgc cttggccacc
      121 ccgaagagtt ctacaacctg gtgcgcttcc ggatcggggg caagcggaag gtgatgccca
      181 agatggacca ggactcgctc agcagcagcc tgaaaacttg ctacaagtat ctcaatcaga
      241 ccagtcgcag tttcgcagct gttatccagg cgctggatgg ggaaatgcgc aacgcagtgt
      301 gcatatttta tctggttctc cgagctctgg acacactgga agatgacatg accatcagtg
      361 tggaaaagaa ggtcccgctg ttacacaact ttcactcttt cctttaccaa ccagactggc
      421 ggttcatgga gagcaaggag aaggatcgcc aggtgctgga ggacttccca acgatctccc
      481 ttgagtttag aaatctggct gagaaatacc aaacagtgat tgccgacatt tgccggagaa
      541 tgggcattgg gatggcagag tttttggata agcatgtgac ctctgaacag gagtgggaca
      601 agtactgcca ctatgttgct gggctggtcg gaattggcct ttcccgtctt ttctcagcct
      661 cagagtttga agacccctta gttggtgaag atacagaacg tgccaactct atgggcctgt
      721 ttttgcagaa aacaaacatc atccgtgact atctggaaga ccagcaagga ggaagagagt
      781 tctggcctca agaggtttgg agcaggtatg ttaagaagtt aggggatttt gctaagccgg
      841 agaatattga cttggccgtg cagtgcctga atgaacttat aaccaatgca ctgcaccaca
      901 tcccagatgt catcacctac ctttcgagac tcagaaacca gagtgtgttt aacttctgtg
      961 ctattccaca ggtgatggcc attgccactt tggctgcctg ttataataac cagcaggtgt
     1021 tcaaaggggc agtgaagatt cggaaagggc aagcagtgac cctgatgatg gatgccacca
     1081 atatgccagc tgtcaaagcc atcatatatc agtatatgga agagatttat catagaatcc
     1141 ccgactcaga cccatcttct agcaaaacaa ggcagatcat ctccaccatc cggacgcaga
     1201 atcttcccaa ctgtcagctg atttcccgaa gccactactc ccccatctac ctgtcgtttg
     1261 tcatgctttt ggctgccctg agctggcagt acctgaccac tctctcccag gtaacagaag
     1321 actatgttca gactggagaa cactgatccc aaatttgtcc atagctgaag tccaccataa
     1381 agtggattta ctttttttct ttaaggatgg atgttgtgtt ctctttattt ttttcctact
     1441 actttaatcc ctaaaagaac gctgtgtggc tgggaccttt aggaaagtga aatgcaggtg
     1501 agaagaacct aaacatgaaa ggaaagggtg cctcatccca gcaacctgtc cttgtgggtg
     1561 atgatcactg tgctgcttgt ggctcatggc agagcattca gtgccacggt ttaggtgaag
     1621 tcgctgcata tgtgactgtc atgagatcct acttagtatg atcctggcta gaatgataat
     1681 taaaagtatt taatttgaag caccatttga atgttcgtaa tagtagaaaa tgatgtgaat
     1741 tttctttctg ttcggctcct atttttctca tcattttgtt ttctttaatt gggttgaatg
     1801 gagtagatag aaatatttat ggtttaggta acagttagat gtttcctaag aatgcaaact
     1861 gccttttcca cacaaaggct gggaataaaa ttctgggtat tctcgtattc tcatttaaag
     1921 gagtttagct ttcagagaga aacagcagga ttgcttttga ccttttagaa gattggtctc
     1981 cagtaaaggt ggacattttt gagattttta taataaagaa tttaattgct ctgca
//
