LOCUS       NM_000235               2496 bp    mRNA    linear   PRI 11-SEP-2024
DEFINITION  Homo sapiens lipase A, lysosomal acid type (LIPA), transcript
            variant 2, mRNA.
ACCESSION   NM_000235
VERSION     NM_000235.4
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 2496)
  AUTHORS   Jin,Z., De,U., Tithi,T.I., Kleberg,J., Nataraj,A., Jolley,E.,
            Carelock,M.E., Davies,B.S., Zhang,W. and Kolb,R.
  TITLE     ANGPTL4 Suppresses Clear Cell Renal Cell Carcinoma via Inhibition
            of Lysosomal Acid Lipase
  JOURNAL   Cancer Res Commun 4 (8), 2242-2254 (2024)
   PUBMED   39105498
  REMARK    GeneRIF: ANGPTL4 Suppresses Clear Cell Renal Cell Carcinoma via
            Inhibition of Lysosomal Acid Lipase.
REFERENCE   2  (bases 1 to 2496)
  AUTHORS   Zhang,J.H., Lin,A.P., Zhang,L., Ruan,D.D., Gao,M.Z., Chen,Q.,
            Yu,H.P., Liao,L.S., Lin,X.F., Fang,Z.T., Lin,F., Lu,S.Y., Luo,J.W.,
            Zheng,X.L. and Chen,M.S.
  TITLE     Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease
            with Dominant Inheritance in a LIPA I378T Heterozygous Carrier
  JOURNAL   Dig Dis Sci 69 (6), 2109-2122 (2024)
   PUBMED   38564148
  REMARK    GeneRIF: Pedigree Analysis of Nonclassical Cholesteryl Ester
            Storage Disease with Dominant Inheritance in a LIPA I378T
            Heterozygous Carrier.
REFERENCE   3  (bases 1 to 2496)
  AUTHORS   Bianco,V., Svecla,M., Vingiani,G.B., Kolb,D., Schwarz,B.,
            Buerger,M., Beretta,G., Norata,G.D. and Kratky,D.
  TITLE     Regional Differences in the Small Intestinal Proteome of Control
            Mice and of Mice Lacking Lysosomal Acid Lipase
  JOURNAL   J Proteome Res 23 (4), 1506-1518 (2024)
   PUBMED   38422518
  REMARK    GeneRIF: Regional Differences in the Small Intestinal Proteome of
            Control Mice and of Mice Lacking Lysosomal Acid Lipase.
REFERENCE   4  (bases 1 to 2496)
  AUTHORS   Kiziltunc,E., Gokalp,S., Biberoglu,G., Yalcin,Y., Cihan,B.,
            Oktem,R.M., Inci,A., Tumer,L., Yalcin,M.R. and Abaci,A.
  TITLE     Is lysosomal acid lipase activity associated with the presence and
            severity of coronary artery disease?
  JOURNAL   Herz 49 (1), 75-80 (2024)
   PUBMED   37528297
  REMARK    GeneRIF: Is lysosomal acid lipase activity associated with the
            presence and severity of coronary artery disease?
REFERENCE   5  (bases 1 to 2496)
  AUTHORS   Jackson,J., Farajzadeh,J., Turner,R., Yukutake,K., Baghdasaryan,E.,
            Denis,E.S., Barseghyan,T., Herrera,P., Begaj,S., Pietruszka,M. and
            Valles-Ayoub,Y.
  TITLE     Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within
            Middle Eastern Population Living Around Los Angeles
  JOURNAL   Genet Test Mol Biomarkers 27 (10), 319-324 (2023)
   PUBMED   37903030
  REMARK    GeneRIF: Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene
            Within Middle Eastern Population Living Around Los Angeles.
REFERENCE   6  (bases 1 to 2496)
  AUTHORS   Muntoni,S., Wiebusch,H., Funke,H., Ros,E., Seedorf,U. and
            Assmann,G.
  TITLE     Homozygosity for a splice junction mutation in exon 8 of the gene
            encoding lysosomal acid lipase in a Spanish kindred with
            cholesterol ester storage disease (CESD)
  JOURNAL   Hum Genet 95 (5), 491-494 (1995)
   PUBMED   7759067
REFERENCE   7  (bases 1 to 2496)
  AUTHORS   Ameis,D., Merkel,M., Eckerskorn,C. and Greten,H.
  TITLE     Purification, characterization and molecular cloning of human
            hepatic lysosomal acid lipase
  JOURNAL   Eur J Biochem 219 (3), 905-914 (1994)
   PUBMED   8112342
REFERENCE   8  (bases 1 to 2496)
  AUTHORS   Hoffman,E.P., Barr,M.L., Giovanni,M.A. and Murray,M.F.
  TITLE     Lysosomal Acid Lipase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
            Gripp KW and Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26225414
REFERENCE   9  (bases 1 to 2496)
  AUTHORS   Anderson,R.A. and Sando,G.N.
  TITLE     Cloning and expression of cDNA encoding human lysosomal acid
            lipase/cholesteryl ester hydrolase. Similarities to gastric and
            lingual lipases
  JOURNAL   J Biol Chem 266 (33), 22479-22484 (1991)
   PUBMED   1718995
REFERENCE   10 (bases 1 to 2496)
  AUTHORS   Warner,T.G., Dambach,L.M., Shin,J.H. and O'Brien,J.S.
  TITLE     Purification of the lysosomal acid lipase from human liver and its
            role in lysosomal lipid hydrolysis
  JOURNAL   J Biol Chem 256 (6), 2952-2957 (1981)
   PUBMED   7204383
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA394611.1 and BC012287.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000235.3.
            
            Summary: This gene encodes lipase A, the lysosomal acid lipase
            (also known as cholesterol ester hydrolase). This enzyme functions
            in the lysosome to catalyze the hydrolysis of cholesteryl esters
            and triglycerides. Mutations in this gene can result in Wolman
            disease and cholesteryl ester storage disease. Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (2) lacks an internal segment in
            the 5' UTR, as compared to variant 1. Variants 1 and 2 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 :: BC012287.1, M74775.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336233.10/ ENSP00000337354.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-330               DA394611.1         265-594
            331-2496            BC012287.1         391-2556
FEATURES             Location/Qualifiers
     source          1..2496
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     gene            1..2496
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /note="lipase A, lysosomal acid type"
                     /db_xref="GeneID:3988"
                     /db_xref="HGNC:HGNC:6617"
                     /db_xref="MIM:613497"
     exon            1..39
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /inference="alignment:Splign:2.1.0"
     exon            40..151
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /inference="alignment:Splign:2.1.0"
     CDS             41..1240
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /EC_number="3.1.1.13"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 2; cholesterol ester hydrolase; lysosomal acid
                     lipase; sterol esterase; lysosomal acid lipase/cholesteryl
                     ester hydrolase; cholesteryl esterase; acid cholesteryl
                     ester hydrolase; lipase A, lysosomal acid, cholesterol
                     esterase; diacylglycerol lipase; triacylglycerol lipase;
                     triacylglycerol ester hydrolase"
                     /codon_start=1
                     /product="lysosomal acid lipase/cholesteryl ester
                     hydrolase isoform 1 precursor"
                     /protein_id="NP_000226.2"
                     /db_xref="CCDS:CCDS7401.1"
                     /db_xref="GeneID:3988"
                     /db_xref="HGNC:HGNC:6617"
                     /db_xref="MIM:613497"
                     /translation="MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYW
                     GFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANS
                     SLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFIL
                     NKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGR
                     LPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSR
                     VDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDML
                     VPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKII
                     NLMRKYQ"
     exon            152..269
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /inference="alignment:Splign:2.1.0"
     exon            270..468
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /inference="alignment:Splign:2.1.0"
     exon            469..578
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /inference="alignment:Splign:2.1.0"
     exon            579..715
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /inference="alignment:Splign:2.1.0"
     exon            716..862
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /inference="alignment:Splign:2.1.0"
     exon            863..934
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1006
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..2496
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2466..2471
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /note="hexamer: AATAAA"
     polyA_site      2496
                     /gene="LIPA"
                     /gene_synonym="CESD; LAL"
                     /note="major polyA site"
ORIGIN      
        1 actgcgactc gagacagcgg cccggcagga cagctccaga atgaaaatgc ggttcttggg
       61 gttggtggtc tgtttggttc tctggaccct gcattctgag gggtctggag ggaaactgac
      121 agctgtggat cctgaaacaa acatgaatgt gagtgaaatt atctcttact ggggattccc
      181 tagtgaggaa tacctagttg agacagaaga tggatatatt ctgtgcctta accgaattcc
      241 tcatgggagg aagaaccatt ctgacaaagg tcccaaacca gttgtcttcc tgcaacatgg
      301 cttgctggca gattctagta actgggtcac aaaccttgcc aacagcagcc tgggcttcat
      361 tcttgctgat gctggttttg acgtgtggat gggcaacagc agaggaaata cctggtctcg
      421 gaaacataag acactctcag tttctcagga tgaattctgg gctttcagtt atgatgagat
      481 ggcaaaatat gacctaccag cttccattaa cttcattctg aataaaactg gccaagaaca
      541 agtgtattat gtgggtcatt ctcaaggcac cactataggt tttatagcat tttcacagat
      601 ccctgagctg gctaaaagga ttaaaatgtt ttttgccctg ggtcctgtgg cttccgtcgc
      661 cttctgtact agccctatgg ccaaattagg acgattacca gatcatctca ttaaggactt
      721 atttggagac aaagaatttc ttccccagag tgcgtttttg aagtggctgg gtacccacgt
      781 ttgcactcat gtcatactga aggagctctg tggaaatctc tgttttcttc tgtgtggatt
      841 taatgagaga aatttaaata tgtctagagt ggatgtatat acaacacatt ctcctgctgg
      901 aacttctgtg caaaacatgt tacactggag ccaggctgtt aaattccaaa agtttcaagc
      961 ctttgactgg ggaagcagtg ccaagaatta ttttcattac aaccagagtt atcctcccac
     1021 atacaatgtg aaggacatgc ttgtgccgac tgcagtctgg agcgggggtc acgactggct
     1081 tgcagatgtc tacgacgtca atatcttact gactcagatc accaacttgg tgttccatga
     1141 gagcattccg gaatgggagc atcttgactt catttggggc ctggatgccc cttggaggct
     1201 ttataataaa attattaatc taatgaggaa atatcagtga aagctggact tgagctgtgt
     1261 accaccaagt caatgattat gtcatgtgaa aatgtgtttg cttcatttct gtaaaacact
     1321 tgtttttctt tcccaggtct tttgtttttt tatatccaag aaaatgataa ctttgaagat
     1381 gcccagttca ctctagtttc aattagaaac atactagcta ttttttcttt aattagggct
     1441 ggaataggaa gccagtgtct caaccatagt attgtctctt taagtctttt aaatatcact
     1501 gatgtgtaaa aaggtcatta tatccattct gtttttaaaa tttaaaatat attgactttt
     1561 tgcccttcat aggacaaagt aatatatgtg ttggaatttt aaaattgtgt tgtcattggt
     1621 aaatctgtca ctgacttaag cgaggtataa aagtacgcag ttttcatgtc cttgccttaa
     1681 agagctctct agtctaacgg tcttgtagtt agagatctaa atgacatttt atcatgtttt
     1741 cctgcagcag gtgcatagtc aaatccagaa atatcacagc tgtgccagta ataaggatgc
     1801 taacaattaa ttttatcaaa cctaactgtg acagctgtga tttgacacgt tttaattgct
     1861 caggttaaat gaaatagttt tccggcgtct tcaaaaacaa attgcactga taaaacaaaa
     1921 acaaaagtat gttttaaatg ctttgaagac tgatacactc aaccatctat attcatgagc
     1981 tctcaatttc atggcaggcc atagttctac ttatctgaga agcaaatccc tgtggagact
     2041 ataccactat tttttctgag attaatgtac tcttggagcc cgctactgtc gttattgatc
     2101 acatctgtgt gaagccaaag ccccgtggtt gcccatgaga agtgtccttg ttcattttca
     2161 cccaaatgaa gtgtgaacgt gatgttttcg gatgcaaact cagctcaggg attcattttg
     2221 tgtcttagtt ttatatgcat ccttattttt aatacacctg cttcacgtcc ctatgttggg
     2281 aagtccatat ttgtctgctt ttcttgcagc atcatttcct tacaatactg tccggtggac
     2341 aaaatgacaa ttgatatgtt tttctgatat aattacttta gctgcactaa cagtacaatg
     2401 cttgttaatg gttaatatag gcagggcgaa tactactttg taacttttaa agtcttaaac
     2461 ttttcaataa aattgagtga gacttatagg cccaaa
//
