LOCUS       NM_001167767            2647 bp    mRNA    linear   ROD 07-FEB-2025
DEFINITION  Mus musculus lipid droplet associated hydrolase (Ldah), transcript
            variant 2, mRNA.
ACCESSION   NM_001167767
VERSION     NM_001167767.2
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2647)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 2647)
  AUTHORS   Currall,B.B., Chen,M., Sallari,R.C., Cotter,M., Wong,K.E.,
            Robertson,N.G., Penney,K.L., Lunardi,A., Reschke,M., Hickox,A.E.,
            Yin,Y., Wong,G.T., Fung,J., Brown,K.K., Williamson,R.E.,
            Sinnott-Armstrong,N.A., Kammin,T., Ivanov,A., Zepeda-Mendoza,C.J.,
            Shen,J., Quade,B.J., Signoretti,S., Arnos,K.S., Banks,A.S.,
            Patsopoulos,N., Liberman,M.C., Kellis,M., Pandolfi,P.P. and
            Morton,C.C.
  TITLE     Loss of LDAH associated with prostate cancer and hearing loss
  JOURNAL   Hum Mol Genet 27 (24), 4194-4203 (2018)
   PUBMED   30169630
  REMARK    GeneRIF: We then amassed convergent genomic evidence showing
            population level associations between LDAHexpression and occurrence
            of prostate cancer . We further identified loss of LDAH in both
            tissues and cell lines derived from human prostate cancer, and
            generated Ldah-/- mouse model, which recapitulated many of the
            clinical findings in DGAP056.
            Erratum:[Hum Mol Genet. 2019 May 15;28(10):1753-1754. doi:
            10.1093/hmg/ddz036.. PMID: 31222336]
REFERENCE   3  (bases 1 to 2647)
  AUTHORS   Goo,Y.H., Son,S.H. and Paul,A.
  TITLE     Lipid Droplet-Associated Hydrolase Promotes Lipid Droplet Fusion
            and Enhances ATGL Degradation and Triglyceride Accumulation
  JOURNAL   Sci Rep 7 (1), 2743 (2017)
   PUBMED   28578400
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2647)
  AUTHORS   Kory,N., Grond,S., Kamat,S.S., Li,Z., Krahmer,N., Chitraju,C.,
            Zhou,P., Frohlich,F., Semova,I., Ejsing,C., Zechner,R.,
            Cravatt,B.F., Farese,R.V. Jr. and Walther,T.C.
  TITLE     Mice lacking lipid droplet-associated hydrolase, a gene linked to
            human prostate cancer, have normal cholesterol ester metabolism
  JOURNAL   J Lipid Res 58 (1), 226-235 (2017)
   PUBMED   27836991
  REMARK    GeneRIF: Our data suggest that LDAH is not a major cholesterol
            ester hydrolase, and an alternative metabolic function may be
            responsible for its possible effect on development of prostate
            cancer.
REFERENCE   5  (bases 1 to 2647)
  AUTHORS   Dickinson,M.E., Flenniken,A.M., Ji,X., Teboul,L., Wong,M.D.,
            White,J.K., Meehan,T.F., Weninger,W.J., Westerberg,H., Adissu,H.,
            Baker,C.N., Bower,L., Brown,J.M., Caddle,L.B., Chiani,F., Clary,D.,
            Cleak,J., Daly,M.J., Denegre,J.M., Doe,B., Dolan,M.E., Edie,S.M.,
            Fuchs,H., Gailus-Durner,V., Galli,A., Gambadoro,A., Gallegos,J.,
            Guo,S., Horner,N.R., Hsu,C.W., Johnson,S.J., Kalaga,S., Keith,L.C.,
            Lanoue,L., Lawson,T.N., Lek,M., Mark,M., Marschall,S., Mason,J.,
            McElwee,M.L., Newbigging,S., Nutter,L.M., Peterson,K.A.,
            Ramirez-Solis,R., Rowland,D.J., Ryder,E., Samocha,K.E.,
            Seavitt,J.R., Selloum,M., Szoke-Kovacs,Z., Tamura,M., Trainor,A.G.,
            Tudose,I., Wakana,S., Warren,J., Wendling,O., West,D.B., Wong,L.,
            Yoshiki,A., MacArthur,D.G., Tocchini-Valentini,G.P., Gao,X.,
            Flicek,P., Bradley,A., Skarnes,W.C., Justice,M.J., Parkinson,H.E.,
            Moore,M., Wells,S., Braun,R.E., Svenson,K.L., de Angelis,M.H.,
            Herault,Y., Mohun,T., Mallon,A.M., Henkelman,R.M., Brown,S.D.,
            Adams,D.J., Lloyd,K.C., McKerlie,C., Beaudet,A.L., Bucan,M. and
            Murray,S.A.
  CONSRTM   International Mouse Phenotyping Consortium; Jackson Laboratory;
            Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris
            (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for
            Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource
            Center
  TITLE     High-throughput discovery of novel developmental phenotypes
  JOURNAL   Nature 537 (7621), 508-514 (2016)
   PUBMED   27626380
  REMARK    Erratum:[Nature. 2017 Nov 16;551(7680):398. doi:
            10.1038/nature24643.. PMID: 29144450]
REFERENCE   6  (bases 1 to 2647)
  AUTHORS   Goo,Y.H., Son,S.H., Kreienberg,P.B. and Paul,A.
  TITLE     Novel lipid droplet-associated serine hydrolase regulates
            macrophage cholesterol mobilization
  JOURNAL   Arterioscler Thromb Vasc Biol 34 (2), 386-396 (2014)
   PUBMED   24357060
  REMARK    GeneRIF: The data identify LDAH a candidate target to promote
            reverse cholesterol transport from atherosclerotic lesions.
REFERENCE   7  (bases 1 to 2647)
  AUTHORS   Koscielny,G., Yaikhom,G., Iyer,V., Meehan,T.F., Morgan,H.,
            Atienza-Herrero,J., Blake,A., Chen,C.K., Easty,R., Di Fenza,A.,
            Fiegel,T., Grifiths,M., Horne,A., Karp,N.A., Kurbatova,N.,
            Mason,J.C., Matthews,P., Oakley,D.J., Qazi,A., Regnart,J.,
            Retha,A., Santos,L.A., Sneddon,D.J., Warren,J., Westerberg,H.,
            Wilson,R.J., Melvin,D.G., Smedley,D., Brown,S.D., Flicek,P.,
            Skarnes,W.C., Mallon,A.M. and Parkinson,H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   8  (bases 1 to 2647)
  AUTHORS   Thiel,K., Heier,C., Haberl,V., Thul,P.J., Oberer,M., Lass,A.,
            Jackle,H. and Beller,M.
  TITLE     The evolutionarily conserved protein CG9186 is associated with
            lipid droplets, required for their positioning and for fat storage
  JOURNAL   J Cell Sci 126 (Pt 10), 2198-2212 (2013)
   PUBMED   23525007
  REMARK    GeneRIF: this study identified a novel lipid droplets -associated
            protein family, represented by the Drosophila protein CG9186 and
            its murine homolog MGI:1916082.
REFERENCE   9  (bases 1 to 2647)
  AUTHORS   Bailey,P.J., Klos,J.M., Andersson,E., Karlen,M., Kallstrom,M.,
            Ponjavic,J., Muhr,J., Lenhard,B., Sandelin,A. and Ericson,J.
  TITLE     A global genomic transcriptional code associated with CNS-expressed
            genes
  JOURNAL   Exp Cell Res 312 (16), 3108-3119 (2006)
   PUBMED   16919269
REFERENCE   10 (bases 1 to 2647)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC122860.5, AI746795.1 and BC057311.1.
            
            On Jun 12, 2018 this sequence version replaced NM_001167767.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC057311.1, SRR1660811.154654.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849382, SAMN00849385
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AC122860.5         68679-68679
            2-21                AI746795.1         1-20
            22-2647             BC057311.1         1-2626
FEATURES             Location/Qualifiers
     source          1..2647
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 3.85 cM"
     gene            1..2647
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /note="lipid droplet associated hydrolase"
                     /db_xref="GeneID:68832"
                     /db_xref="MGI:MGI:1916082"
     exon            1..79
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            80..235
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..792
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /EC_number="3.1.1.13"
                     /note="isoform 2 is encoded by transcript variant 2;
                     UPF0554 protein C2orf43 homolog; LD-associated hydrolase;
                     lipid droplet-associated serine hydrolase"
                     /codon_start=1
                     /product="lipid droplet-associated hydrolase isoform 2"
                     /protein_id="NP_001161239.1"
                     /db_xref="CCDS:CCDS49023.1"
                     /db_xref="GeneID:68832"
                     /db_xref="MGI:MGI:1916082"
                     /translation="MASEVEEQIPVREEFFLCGGVETKIIKCGPWTNLFEKQDVSKPK
                     QLIFIIPGNPGYSAFYVPFAKALYTLMKSRFPVWIISHAGFSVTPKDKKVLAAPQEES
                     NAQKIEDVYGLNGQIEHKIAFLRAHVPKDVKLILIGHSVGTYMTLHVMKRVPELPVAH
                     AFLLFPTIERMSESPNGKFATPFLCQFRYLLYATSYLLFKPCPEVIKSFIIQKLMGQM
                     NIKLELPLTDILQPFCLA"
     exon            236..379
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            380..552
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            553..787
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            788..2647
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2625..2630
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /note="hexamer: AATAAA"
     polyA_site      2647
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /note="major polyA site"
ORIGIN      
        1 agtacaggcg gaacttccgg gtctggtgag gctttgccga gacgtcggcg gacgacccca
       61 ataccttgtg agtgggcaga gatggcctca gaagtcgagg aacaaatccc tgtgcgtgag
      121 gagttctttc tctgtggtgg agttgaaacc aagatcataa aatgtgggcc ctggactaac
      181 ctctttgaga aacaagacgt cagcaagcca aaacagctta tcttcatcat tcccggtaac
      241 ccaggctatt ccgcattcta cgtgccattt gcaaaggcct tgtacacttt gatgaagagc
      301 cgcttcccgg tatggataat ctctcatgct gggttttcgg tgactcccaa agacaagaag
      361 gttcttgcag caccacagga agagtcaaat gctcaaaaaa ttgaggacgt ctatggtctg
      421 aatggtcaaa tagagcacaa aatagctttt ctgagagctc acgtgccaaa ggatgtgaag
      481 cttatactca ttggccattc cgtaggcacc tatatgaccc ttcacgtgat gaagcgagtc
      541 cccgagctgc ctgtcgccca cgcctttctg ctcttcccaa ctatcgaacg aatgtctgaa
      601 tcgcccaacg gcaagtttgc cactccattt ttgtgccagt ttcgatacct gctctatgct
      661 accagctact tactttttaa gccgtgtcct gaagtcataa aatctttcat aatccaaaag
      721 ctcatgggac aaatgaacat taagcttgaa cttcctttga cggatatcct tcaaccattt
      781 tgccttgctt aagttttact atggtaaaac tgatggctgg tgtccagtaa agtactatga
      841 agacatgaag aaagattttc cagaaggcaa tatttacctc tgtgagaaag gaataccaca
      901 tgcttttgtt ctcgatttta gccaggagat ggctaccata gttgctgagt ggataaataa
      961 tagaccgccc agaaaatagg tactggccca ggctggagag atggctcagt ggttaagagt
     1021 actgactgct cttccagagg tcctgagttc gattcccagc aaccacatgg tggctcacaa
     1081 ccatctgtaa tgggatccga tgccctcttc tggtgtgtgt gaagacagct acattaacat
     1141 taaaaaaaat aataattctt taaaaaaaat aagtactggc ccaagggggg aaaaagtcac
     1201 ctacagccaa tgaaagttct aggtgtgttc tgcatagggg caaatgttta atcgtaatgc
     1261 ttaaaagaaa actagagacc ttcctggctt acagatttcc agctcccaca ccctgcgcta
     1321 agactaaagt gaacccggct gacagctcac tccatggggg agcagtgagc aaaggatgct
     1381 aacggtgcac ttgcctagtt gaggggaaat cacttctgac ttcatacggg tccttgctga
     1441 gaccatcgcc gtgataggcg tgattcacct gcaataaacc aaacatcaag ttggcctgac
     1501 atttatcaac taactagaca gagttgctga aggatcctga cttcatcctg ccacaggata
     1561 accaacaggc tcctcctgag ccctgaaagg ccaggtccct gctggctcct ctagagcaag
     1621 aagggagggc tgcagtgtcc acatcagatt tgcacgggat ttctcatcag tgtgattcag
     1681 ctagtgacct ccatggacag gatgcagtga gccacccatt ccattcatga tgccattaac
     1741 tgccttggga ctcttccctt ctgaaaattt cctaggacat catctttgga aaggtgtttt
     1801 aacttgttga gtaaagcatt agttcattct ccacttgcct aaactttatt gattggaaag
     1861 aaaggatttt gtgactgttc agagttctga aagccattaa atttgtattt cttcattccc
     1921 gaaagccttg aagtccagta gaaaagcata ttcctggccg agacgcggag gagtgcttcc
     1981 ttcctgacat actggacagc tctgctacct taattgactc agtcctaaga tctcagaggc
     2041 caataaaccc aactgtctat atgacttgaa cagttggaag cattccattg tcttgtagag
     2101 aaaagctctc ctagcagtat cattcgttcc tcaagggcag ttgagacgcc cttcctctca
     2161 aacccctaag gccctgatga cggatttggt tctggtgtgc tgcctctcag gggtgagagg
     2221 aataggttct aatcacactc gctcactccg ctcattctgt atggtttcta cagaggagct
     2281 cagcctctca gcggggataa gccaggctcc agacaaggag ccttagtcta ggaagacaac
     2341 acgaggtcct ccctggtgtc tgcacaagga tgcctcctgc agagctgatc tgcgaagcca
     2401 ggcttcaggc tctgagtacc ttgcttatag agcaggcttg gtcactggtg ggaatcaatg
     2461 cataagaaca agtcctggca agtcagacct attggaacaa aggaatagca tttgtggatg
     2521 tctcttacaa attattttac atcactcttt gttttccaaa tcctgcttaa aaggccctgg
     2581 ttcctcattc ctgttcctcg cctcaacgtc aaatgatatt ttataataaa tgtctccccc
     2641 gcagtca
//
