LOCUS       NM_003129               2962 bp    mRNA    linear   PRI 12-AUG-2024
DEFINITION  Homo sapiens squalene epoxidase (SQLE), mRNA.
ACCESSION   NM_003129
VERSION     NM_003129.4
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 2962)
  AUTHORS   Jun,S.Y., Yoon,H.R., Yoon,J.Y., Lee,J.J., Kim,J.Y., Kim,J.M. and
            Kim,N.S.
  TITLE     Age-related cholesterol and colorectal cancer progression:
            Validating squalene epoxidase for high-risk cases
  JOURNAL   Aging Cell 23 (7), e14152 (2024)
   PUBMED   38517197
  REMARK    GeneRIF: Age-related cholesterol and colorectal cancer progression:
            Validating squalene epoxidase for high-risk cases.
REFERENCE   2  (bases 1 to 2962)
  AUTHORS   Zhang,L., Cao,Z., Hong,Y., He,H., Chen,L., Yu,Z. and Gao,Y.
  TITLE     Squalene Epoxidase: Its Regulations and Links with Cancers
  JOURNAL   Int J Mol Sci 25 (7), 3874 (2024)
   PUBMED   38612682
  REMARK    GeneRIF: Squalene Epoxidase: Its Regulations and Links with
            Cancers.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2962)
  AUTHORS   Zhu,C., Fang,X., Liu,X., Jiang,C., Ren,W., Huang,W., Jiang,Y. and
            Wang,D.
  TITLE     Squalene monooxygenase facilitates bladder cancer development in
            part by regulating PCNA
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1871 (3), 119681 (2024)
   PUBMED   38280406
  REMARK    GeneRIF: Squalene monooxygenase facilitates bladder cancer
            development in part by regulating PCNA.
REFERENCE   4  (bases 1 to 2962)
  AUTHORS   Wang,Y., Ma,X., Xu,E., Huang,Z., Yang,C., Zhu,K., Dong,Y. and
            Zhang,C.
  TITLE     Identifying squalene epoxidase as a metabolic vulnerability in
            high-risk osteosarcoma using an artificial intelligence-derived
            prognostic index
  JOURNAL   Clin Transl Med 14 (2), e1586 (2024)
   PUBMED   38372422
  REMARK    GeneRIF: Identifying squalene epoxidase as a metabolic
            vulnerability in high-risk osteosarcoma using an artificial
            intelligence-derived prognostic index.
REFERENCE   5  (bases 1 to 2962)
  AUTHORS   Ma,Y.C., Jin,S.J., Gu,G.J., Zhao,L.F. and Xu,S.T.
  TITLE     The expression of squalene epoxidase in human gastric cancer and
            its clinical significance
  JOURNAL   Indian J Pathol Microbiol 66 (4), 799-803 (2023)
   PUBMED   38084535
  REMARK    GeneRIF: The expression of squalene epoxidase in human gastric
            cancer and its clinical significance.
REFERENCE   6  (bases 1 to 2962)
  AUTHORS   Ma,J., Dempsey,A.A., Stamatiou,D., Marshall,K.W. and Liew,C.C.
  TITLE     Identifying leukocyte gene expression patterns associated with
            plasma lipid levels in human subjects
  JOURNAL   Atherosclerosis 191 (1), 63-72 (2007)
   PUBMED   16806233
REFERENCE   7  (bases 1 to 2962)
  AUTHORS   Nagai,M., Sakakibara,J., Nakamura,Y., Gejyo,F. and Ono,T.
  TITLE     SREBP-2 and NF-Y are involved in the transcriptional regulation of
            squalene epoxidase
  JOURNAL   Biochem Biophys Res Commun 295 (1), 74-80 (2002)
   PUBMED   12083769
  REMARK    GeneRIF: functional promotor regions involved in transcription was
            determined
REFERENCE   8  (bases 1 to 2962)
  AUTHORS   Laden,B.P., Tang,Y. and Porter,T.D.
  TITLE     Cloning, heterologous expression, and enzymological
            characterization of human squalene monooxygenase
  JOURNAL   Arch Biochem Biophys 374 (2), 381-388 (2000)
   PUBMED   10666321
REFERENCE   9  (bases 1 to 2962)
  AUTHORS   Nagai,M., Sakakibara,J., Wakui,K., Fukushima,Y., Igarashi,S.,
            Tsuji,S., Arakawa,M. and Ono,T.
  TITLE     Localization of the squalene epoxidase gene (SQLE) to human
            chromosome region 8q24.1
  JOURNAL   Genomics 44 (1), 141-143 (1997)
   PUBMED   9286711
REFERENCE   10 (bases 1 to 2962)
  AUTHORS   Nakamura,Y., Sakakibara,J., Izumi,T., Shibata,A. and Ono,T.
  TITLE     Transcriptional regulation of squalene epoxidase by sterols and
            inhibitors in HeLa cells
  JOURNAL   J Biol Chem 271 (14), 8053-8056 (1996)
   PUBMED   8626488
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG772453.1, BX647400.1,
            BX647605.1 and BC017033.1.
            
            On Nov 23, 2018 this sequence version replaced NM_003129.3.
            
            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 :: BX647605.1, SRR1803616.235615.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265896.10/ ENSP00000265896.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                BG772453.1         33-71
            40-400              BX647400.1         1-361
            401-1886            BX647605.1         400-1885
            1887-2962           BC017033.1         1146-2221
FEATURES             Location/Qualifiers
     source          1..2962
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.13"
     gene            1..2962
                     /gene="SQLE"
                     /note="squalene epoxidase"
                     /db_xref="GeneID:6713"
                     /db_xref="HGNC:HGNC:11279"
                     /db_xref="MIM:602019"
     exon            1..1190
                     /gene="SQLE"
                     /inference="alignment:Splign:2.1.0"
     CDS             900..2624
                     /gene="SQLE"
                     /EC_number="1.14.14.17"
                     /note="SE"
                     /codon_start=1
                     /product="squalene monooxygenase"
                     /protein_id="NP_003120.2"
                     /db_xref="CCDS:CCDS47918.1"
                     /db_xref="GeneID:6713"
                     /db_xref="HGNC:HGNC:11279"
                     /db_xref="MIM:602019"
                     /translation="MWTFLGIATFTYFYKKFGDFITLANREVLLCVLVFLSLGLVLSY
                     RCRHRNGGLLGRQQSGSQFALFSDILSGLPFIGFFWAKSPPESENKEQLEARRRRKGT
                     NISETSLIGTAACTSTSSQNDPEVIIVGAGVLGSALAAVLSRDGRKVTVIERDLKEPD
                     RIVGEFLQPGGYHVLKDLGLGDTVEGLDAQVVNGYMIHDQESKSEVQIPYPLSENNQV
                     QSGRAFHHGRFIMSLRKAAMAEPNAKFIEGVVLQLLEEDDVVMGVQYKDKETGDIKEL
                     HAPLTVVADGLFSKFRKSLVSNKVSVSSHFVGFLMKNAPQFKANHAELILANPSPVLI
                     YQISSSETRVLVDIRGEMPRNLREYMVEKIYPQIPDHLKEPFLEATDNSHLRSMPASF
                     LPPSSVKKRGVLLLGDAYNMRHPLTGGGMTVAFKDIKLWRKLLKGIPDLYDDAAIFEA
                     KKSFYWARKTSHSFVVNILAQALYELFSATDDSLHQLRKACFLYFKLGGECVAGPVGL
                     LSVLSPNPLVLIGHFFAVAIYAVYFCFKSEPWITKPRALLSSGAVLYKACSVIFPLIY
                     SEMKYMVH"
     exon            1191..1443
                     /gene="SQLE"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1624
                     /gene="SQLE"
                     /inference="alignment:Splign:2.1.0"
     exon            1625..1721
                     /gene="SQLE"
                     /inference="alignment:Splign:2.1.0"
     exon            1722..1835
                     /gene="SQLE"
                     /inference="alignment:Splign:2.1.0"
     exon            1836..2007
                     /gene="SQLE"
                     /inference="alignment:Splign:2.1.0"
     exon            2008..2103
                     /gene="SQLE"
                     /inference="alignment:Splign:2.1.0"
     exon            2104..2246
                     /gene="SQLE"
                     /inference="alignment:Splign:2.1.0"
     exon            2247..2343
                     /gene="SQLE"
                     /inference="alignment:Splign:2.1.0"
     exon            2344..2431
                     /gene="SQLE"
                     /inference="alignment:Splign:2.1.0"
     exon            2432..2962
                     /gene="SQLE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2945..2950
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SQLE"
                     /note="hexamer: AATAAA"
     polyA_site      2962
                     /gene="SQLE"
                     /note="major polyA site"
ORIGIN      
        1 gagacgcgtg gagcctggcg gcgagtgggg gcgtgcgacg gttactctgg ttactggggc
       61 cgcgccgcgc tggcgagagc cgccgcccgc gagggatgct ggtgaggaag ccgtcgggag
      121 ccgccgccgc catctgaggg aggtaccctg gaaaccacct tttatcggtg gggaagtgca
      181 gtcgcggtgg gcggctctgg gggccagcga aacgggaggc ctctaaatct ttaggttggg
      241 gctgcattgc cctggagccg cactcttgag tccgaggcca tcttttgttg gagaaggcgt
      301 cggcgttggc gttttcccga ggttgggctg tacagtgtct ccgtccgcgg aaaaagaagc
      361 ctctgaaccc gcgccggccc gcagcccccg tgccttccgg ccgctgctcg ccgtcgccag
      421 aggctaggcc acgtttcccc cagtgccgag gtgtttctgt gaccctccct ccactcccat
      481 tcccttctga aagggcacct gctcttggtg agaaaagaaa ttatagcacg aagagccagt
      541 atcagaagag tatccatcac ccgcagcaac cgctcaggga acaccatcaa aaaagaaaaa
      601 aagggaatat ctggatttcc tgggcgagga ggagcgagtc tgctcgggag ctgttccagc
      661 aggcgatttt taaatactgc tttctacgcc ctatacaact tggcttcaca tacttttaca
      721 ctaactttat atgattttta aaaactggtc tgatcggact tctcgtcctg ggacactgtt
      781 tactggagtc tggccggctc tccgtgctcc tcttggtacc tcattttggg gagaacctta
      841 aacccactcg agcagataat ctccgccttg accggtgcca ccaaagaagc cttggaacca
      901 tgtggacttt tctgggcatt gccactttca cctattttta taagaagttc ggggacttca
      961 tcactttggc caacagggag gtcctgttgt gcgtgctggt gttcctctcg ctgggcctgg
     1021 tgctctccta ccgctgtcgc caccgaaacg ggggtctcct cgggcgccag cagagcggct
     1081 cccagttcgc cctcttctcg gatattctct caggcctgcc tttcattggc ttcttctggg
     1141 ccaaatcccc ccctgaatca gaaaataagg agcagctcga ggccaggagg cgcagaaaag
     1201 gaaccaatat ttcagaaaca agcttaatag gaacagctgc ctgtacatca acatcttctc
     1261 agaatgaccc agaagttatc atcgtgggag ctggcgtgct tggctctgct ttggcagctg
     1321 tgctttccag agatggaaga aaggtgacag tcattgagag agacttaaaa gagcctgaca
     1381 gaatagttgg agaattcctg cagccgggtg gttatcatgt tctcaaagac cttggtcttg
     1441 gagatacagt ggaaggtctt gatgcccagg ttgtaaatgg ttacatgatt catgatcagg
     1501 aaagcaaatc agaggttcag attccttacc ctctgtcaga aaacaatcaa gtgcagagtg
     1561 gaagagcttt ccatcacgga agattcatca tgagtctccg gaaagcagct atggcagagc
     1621 ccaatgcaaa gtttattgaa ggtgttgtgt tacagttatt agaggaagat gatgttgtga
     1681 tgggagttca gtacaaggat aaagagactg gagatatcaa ggaactccat gctccactga
     1741 ctgttgttgc agatgggctt ttctccaagt tcaggaaaag cctggtctcc aataaagttt
     1801 ctgtatcatc tcattttgtt ggctttctta tgaagaatgc accacagttt aaagcaaatc
     1861 atgctgaact tattttagct aacccgagtc cagttctcat ctaccagatt tcatccagtg
     1921 aaactcgagt acttgttgac attagaggag aaatgccaag gaatttaaga gaatacatgg
     1981 ttgaaaaaat ttacccacaa atacctgatc acctgaaaga accattctta gaagccactg
     2041 acaattctca tctgaggtcc atgccagcaa gcttccttcc tccttcatca gtgaagaaac
     2101 gaggtgttct tcttttggga gacgcatata atatgaggca tccacttact ggtggaggaa
     2161 tgactgttgc ttttaaagat ataaaactat ggagaaaact gctaaagggt atccctgacc
     2221 tttatgatga tgcagctatt ttcgaggcca aaaaatcatt ttactgggca agaaaaacat
     2281 ctcattcctt tgtcgtgaat atccttgctc aggctcttta tgaattattt tctgccacag
     2341 atgattccct gcatcaacta agaaaagcct gttttcttta tttcaaactt ggtggcgaat
     2401 gtgttgcggg tcctgttggg ctgctttctg tattgtctcc taaccctcta gttttaattg
     2461 gacacttctt tgctgttgca atctatgccg tgtatttttg ctttaagtca gaaccttgga
     2521 ttacaaaacc tcgagccctt ctcagtagtg gtgctgtatt gtacaaagcg tgttctgtaa
     2581 tatttcctct aatttactca gaaatgaagt atatggttca ttaagcttaa aggggaacca
     2641 tttgtgaatg aatatttgga acttaccaag tcctaagaga cttttggaag aggatatata
     2701 tagcatagta ccataccact tataaagtgg aaactcttgg accaagattt ggattaattt
     2761 gtttttgaag ttttttgtat ataaatatgt aaatacatgc tttaatttgc aatttaaaat
     2821 gaaggggtta aataagttag acatttaaaa gaaatgattg ttaccataaa ttagtgctaa
     2881 tgctgaggag aactacagtt tttcttttga atttagtatt tgagatgagt tgttgggaca
     2941 tgcaaataaa atgaagaatg aa
//
