LOCUS       NM_000236               2559 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens lipase C, hepatic type (LIPC), mRNA.
ACCESSION   NM_000236
VERSION     NM_000236.3
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 2559)
  AUTHORS   Zhang,H., Li,F.Y., Hao,Y., Wang,X.M., Zhang,J., Ma,Y.L., Zeng,H.
            and Lin,J.
  TITLE     [Identification and 3D architecture analysis of the LIPC gene
            mutation in a pedigree with familial hypercholesterolemia-like
            phenotype]
  JOURNAL   Zhonghua Xin Xue Guan Bing Za Zhi 51 (7), 716-721 (2023)
   PUBMED   37460425
  REMARK    GeneRIF: [Identification and 3D architecture analysis of the LIPC
            gene mutation in a pedigree with familial hypercholesterolemia-like
            phenotype].
REFERENCE   2  (bases 1 to 2559)
  AUTHORS   Deng,R., Lu,X., Hong,C., Cai,R., Wang,P., Xiong,L., Wang,X.,
            Chen,Q. and Lin,J.
  TITLE     Downregulation of TUSC3 promotes EMT and hepatocellular carcinoma
            progression through LIPC/AKT axis
  JOURNAL   J Transl Med 20 (1), 485 (2022)
   PUBMED   36274132
  REMARK    GeneRIF: Downregulation of TUSC3 promotes EMT and hepatocellular
            carcinoma progression through LIPC/AKT axis.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2559)
  AUTHORS   Dijk,W., Di Filippo,M., Kooijman,S., van Eenige,R., Rimbert,A.,
            Caillaud,A., Thedrez,A., Arnaud,L., Pronk,A., Garcon,D., Sotin,T.,
            Lindenbaum,P., Ozcariz Garcia,E., Pais de Barros,J.P.,
            Duvillard,L., Si-Tayeb,K., Amigo,N., Le Questel,J.Y.,
            Rensen,P.C.N., Le May,C., Moulin,P. and Cariou,B.
  TITLE     Identification of a Gain-of-Function LIPC Variant as a Novel Cause
            of Familial Combined Hypocholesterolemia
  JOURNAL   Circulation 146 (10), 724-739 (2022)
   PUBMED   35899625
  REMARK    GeneRIF: Identification of a Gain-of-Function LIPC Variant as a
            Novel Cause of Familial Combined Hypocholesterolemia.
REFERENCE   4  (bases 1 to 2559)
  AUTHORS   Liao,Y.H., Er,L.K., Wu,S., Ko,Y.L. and Teng,M.S.
  TITLE     Functional Haplotype of LIPC Induces Triglyceride-Mediated
            Suppression of HDL-C Levels According to Genome-Wide Association
            Studies
  JOURNAL   Genes (Basel) 12 (2), 148 (2021)
   PUBMED   33499410
  REMARK    GeneRIF: Functional Haplotype of LIPC Induces Triglyceride-Mediated
            Suppression of HDL-C Levels According to Genome-Wide Association
            Studies.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2559)
  AUTHORS   Seyedian,S.M., Bijanzadeh,M., Ahmadi,F. and Haghighizadeh,M.H.
  TITLE     Association between Endothelial nitric oxide synthase and Hepatic
            lipase gene polymorphisms with the risk of coronary artery disease
            in Southern Iran population - A case control study
  JOURNAL   Nucleosides Nucleotides Nucleic Acids 40 (4), 423-433 (2021)
   PUBMED   33673789
  REMARK    GeneRIF: Association between Endothelial nitric oxide synthase and
            Hepatic lipase gene polymorphisms with the risk of coronary artery
            disease in Southern Iran population - A case control study.
REFERENCE   6  (bases 1 to 2559)
  AUTHORS   Hegele,R.A., Tu,L. and Connelly,P.W.
  TITLE     Human hepatic lipase mutations and polymorphisms
  JOURNAL   Hum Mutat 1 (4), 320-324 (1992)
   PUBMED   1301939
REFERENCE   7  (bases 1 to 2559)
  AUTHORS   Hegele,R.A., Little,J.A. and Connelly,P.W.
  TITLE     Compound heterozygosity for mutant hepatic lipase in familial
            hepatic lipase deficiency
  JOURNAL   Biochem Biophys Res Commun 179 (1), 78-84 (1991)
   PUBMED   1883393
REFERENCE   8  (bases 1 to 2559)
  AUTHORS   Hegele,R.A., Vezina,C., Moorjani,S., Lupien,P.J., Gagne,C.,
            Brun,L.D., Little,J.A. and Connelly,P.W.
  TITLE     A hepatic lipase gene mutation associated with heritable lipolytic
            deficiency
  JOURNAL   J Clin Endocrinol Metab 72 (3), 730-732 (1991)
   PUBMED   1671786
REFERENCE   9  (bases 1 to 2559)
  AUTHORS   Ameis,D., Stahnke,G., Kobayashi,J., McLean,J., Lee,G., Buscher,M.,
            Schotz,M.C. and Will,H.
  TITLE     Isolation and characterization of the human hepatic lipase gene
  JOURNAL   J Biol Chem 265 (12), 6552-6555 (1990)
   PUBMED   2324091
REFERENCE   10 (bases 1 to 2559)
  AUTHORS   Kinnunen,P.K. and Ehnolm,C.
  TITLE     Effect of serum and C-apoproteins from very low density
            lipoproteins on human postheparin plasma hepatic lipase
  JOURNAL   FEBS Lett 65 (3), 354-357 (1976)
   PUBMED   182536
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315306.1, BC146659.1,
            AV645541.1, D83548.1, AI823349.1 and AC018904.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000236.2.
            
            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 :: X07228.1, D83548.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2144335
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299022.10/ ENSP00000299022.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-713               AK315306.1         195-907
            714-1109            BC146659.1         952-1347
            1110-1179           AV645541.1         555-624
            1180-1588           D83548.1           1179-1587
            1589-1589           AI823349.1         11-11               c
            1590-2559           AC018904.6         113325-114294
FEATURES             Location/Qualifiers
     source          1..2559
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     gene            1..2559
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="lipase C, hepatic type"
                     /db_xref="GeneID:3990"
                     /db_xref="HGNC:HGNC:6619"
                     /db_xref="MIM:151670"
     exon            1..130
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1542
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /EC_number="3.1.1.3"
                     /EC_number="3.1.1.5"
                     /EC_number="3.1.1.32"
                     /note="hepatic triacylglycerol lipase; hepatic lipase;
                     lipase member C; lipase, hepatic; Triacylglycerol lipase;
                     phospholipase A1; lysophospholipase"
                     /codon_start=1
                     /product="hepatic triacylglycerol lipase precursor"
                     /protein_id="NP_000227.2"
                     /db_xref="CCDS:CCDS10166.1"
                     /db_xref="GeneID:3990"
                     /db_xref="HGNC:HGNC:6619"
                     /db_xref="MIM:151670"
                     /translation="MDTSPLCFSILLVLCIFIQSSALGQSLKPEPFGRRAQAVETNKT
                     LHEMKTRFLLFGETNQGCQIRINHPDTLQECGFNSSLPLVMIIHGWSVDGVLENWIWQ
                     MVAALKSQPAQPVNVGLVDWITLAHDHYTIAVRNTRLVGKEVAALLRWLEESVQLSRS
                     HVHLIGYSLGAHVSGFAGSSIGGTHKIGRITGLDAAGPLFEGSAPSNRLSPDDANFVD
                     AIHTFTREHMGLSVGIKQPIGHYDFYPNGGSFQPGCHFLELYRHIAQHGFNAITQTIK
                     CSHERSVHLFIDSLLHAGTQSMAYPCGDMNSFSQGLCLSCKKGRCNTLGYHVRQEPRS
                     KSKRLFLVTRAQSPFKVYHYQFKIQFINQTETPIQTTFTMSLLGTKEKMQKIPITLGK
                     GIASNKTYSFLITLDVDIGELIMIKFKWENSAVWANVWDTVQTIIPWSTGPRHSGLVL
                     KTIRVKAGETQQRMTFCSENTDDLLLRPTQEKIFVKCEIKSKTSKRKIR"
     exon            131..315
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /inference="alignment:Splign:2.1.0"
     exon            316..498
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /inference="alignment:Splign:2.1.0"
     exon            499..616
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /inference="alignment:Splign:2.1.0"
     exon            617..850
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /inference="alignment:Splign:2.1.0"
     exon            851..1093
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1211
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1212..1430
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..2559
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1568..1573
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="hexamer: AATAAA"
     polyA_site      1589
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="major polyA site"
     regulatory      2536..2541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
                     /note="hexamer: AATAAA"
     polyA_site      2559
                     /gene="LIPC"
                     /gene_synonym="HDLCQ12; HL; HTGL; LIPH"
ORIGIN      
        1 agaaattacc aagaaagcct ggaccccggg tgaaacggag aaatggacac aagtcccctg
       61 tgtttctcca ttctgttggt tttatgcatc tttatccaat caagtgccct tggacaaagc
      121 ctgaaaccag agccatttgg aagaagagct caagctgttg aaacaaacaa aacgctgcat
      181 gagatgaaga ccagattcct gctctttgga gaaaccaatc agggctgtca gattcgaatc
      241 aatcatccgg acacgttaca ggagtgcggc ttcaactcct ccctgcctct ggtgatgata
      301 atccacgggt ggtcggtgga cggcgtgcta gaaaactgga tctggcagat ggtggccgcg
      361 ctgaagtctc agccggccca gccagtgaac gtggggctgg tggactggat caccctggcc
      421 cacgaccact acaccatcgc cgtccgcaac acccgccttg tgggcaagga ggtcgcggct
      481 cttctccggt ggctggagga atctgtgcaa ctctctcgaa gccatgttca cctaattggg
      541 tacagcctgg gtgcacacgt gtcaggattt gccggcagtt ccatcggtgg aacgcacaag
      601 attgggagaa tcacagggct ggatgccgcg ggacctttgt ttgagggaag tgcccccagc
      661 aatcgtcttt ctccagatga tgccaatttt gtggatgcca ttcatacctt tacccgggag
      721 cacatgggcc tgagcgtggg catcaaacag cccataggac actatgactt ctatcccaac
      781 gggggctcct tccagcctgg ctgccacttc ctagagctct acagacatat tgcccagcac
      841 ggcttcaatg ccatcaccca gaccataaaa tgctcccacg agcgatcggt gcaccttttc
      901 atcgactcct tgctgcacgc cggcacgcag agcatggcct acccgtgtgg tgacatgaac
      961 agcttcagcc agggcctgtg cctgagctgc aagaagggcc gctgcaacac gctgggctac
     1021 cacgtccgcc aggagccgcg gagcaagagc aagaggctct tcctcgtaac gcgagcccag
     1081 tcccccttca aagtttatca ttaccagttc aagatccagt tcatcaacca aactgagaca
     1141 ccaatacaaa caacttttac catgtcacta ctcggaacaa aagagaaaat gcagaaaatt
     1201 cccatcactc tgggcaaagg aattgctagt aataaaacgt attcctttct tatcacgctg
     1261 gatgtggata tcggcgagct gatcatgatc aagttcaagt gggaaaacag tgcagtgtgg
     1321 gccaatgtct gggacacggt ccagaccatc atcccatgga gcacagggcc gcgccactca
     1381 ggcctcgttc tgaagacgat cagagtcaaa gcaggagaaa cccagcaaag aatgacattt
     1441 tgttcagaaa acacagatga cctactactt cgcccaaccc aggaaaaaat cttcgtgaaa
     1501 tgtgaaataa agtctaaaac atcaaagcga aagatcagat gagatttaat gaagacccag
     1561 tgtaaagaat aaatgaatct tactccttat ctggaatggc tgccttattt agaagccaaa
     1621 attacataaa gaatctcaca caaagcttaa ataaagttta gatttaaggg gggtatgttt
     1681 cactctcata aactgagctt ttaaaaacga tatgatataa ctattttcca gtatcagtac
     1741 aaccaaaaat gtcccaattt tatctctggt taaatgttaa tatatgcaaa taagtacaaa
     1801 tgcaagagcc attttagatc tgttgttcta atttacaatg tcttttataa ttaagtttcc
     1861 cacatgtcct tgctagttta ttatgaccca tttttgaacc atgctagaaa gatacttttt
     1921 tattaggtaa ctagtgcttc aataaagcaa gattctaatt aatcaccact agttgtgtat
     1981 accaaataca catcctttaa gacaatacag ttcttaaaag aagaaaaatt ataattattc
     2041 taatatttat acaaatcata taacgatttc acagaaccaa acacttacaa gtagaattct
     2101 actaaaacta cttgtgataa cagtgaaagc tagacatgtg gtcattttaa taatggaatt
     2161 acaaattaaa taaacataat tattatatct tactaatgct tgcaacaaaa gctaatttta
     2221 aaaacttgga atgtctcaaa gcatttgcta tggactgaat gtttgagtca ccccaaaatt
     2281 catatgctga aatctaatcc ccaatgtgat ggtgtttgga ggtggggcct ttgggaggtg
     2341 atcaggtcat gagggtggag ccctcataag tgggattagt gcccttatag gggataaagg
     2401 atcagaactc tctgccatgt gcggatatga gaaggcaact atatgcaaac caggaagttg
     2461 accctcacct ggaagtagac taccagatct gctggcacct ttatcttgga cttctcagct
     2521 tccagaactg tgagaaataa atgtttcttg tttaagcca
//
