LOCUS       NM_172401               2718 bp    mRNA    linear   ROD 07-FEB-2025
DEFINITION  Mus musculus lipid droplet associated hydrolase (Ldah), transcript
            variant 1, mRNA.
ACCESSION   NM_172401
VERSION     NM_172401.5
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 2718)
  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 2718)
  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 2718)
  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 2718)
  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 2718)
  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 2718)
  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 2718)
  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 2718)
  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 2718)
  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 2718)
  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.
            
            On Jun 12, 2018 this sequence version replaced NM_172401.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK079099.1, SRR7345562.1586426.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-67                AC122860.5         68679-68745
            68-223              AC122860.5         81153-81308
            224-367             AC122860.5         87773-87916
            368-540             AC122860.5         98996-99168
            541-775             AC122860.5         128917-129151
            776-858             AC122860.5         136361-136443
            859-2718            AC122860.5         144453-146312
FEATURES             Location/Qualifiers
     source          1..2718
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 3.85 cM"
     gene            1..2718
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /note="lipid droplet associated hydrolase"
                     /db_xref="GeneID:68832"
                     /db_xref="MGI:MGI:1916082"
     exon            1..67
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            68..223
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..1050
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /EC_number="3.1.1.13"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UPF0554 protein C2orf43 homolog; LD-associated hydrolase;
                     lipid droplet-associated serine hydrolase"
                     /codon_start=1
                     /product="lipid droplet-associated hydrolase isoform 1"
                     /protein_id="NP_765989.3"
                     /db_xref="CCDS:CCDS25798.1"
                     /db_xref="GeneID:68832"
                     /db_xref="MGI:MGI:1916082"
                     /translation="MASEVEEQIPVREEFFLCGGVETKIIKCGPWTNLFEKQDVSKPK
                     QLIFIIPGNPGYSAFYVPFAKALYTLMKSRFPVWIISHAGFSVTPKDKKVLAAPQEES
                     NAQKIEDVYGLNGQIEHKIAFLRAHVPKDVKLILIGHSVGTYMTLHVMKRVPELPVAH
                     AFLLFPTIERMSESPNGKFATPFLCQFRYLLYATSYLLFKPCPEVIKSFIIQKLMGQM
                     NIKLELPLTDILQPFCLANAAYLGSQEMVQIVKRDDDIIKEFLPKLKFYYGKTDGWCP
                     VKYYEDMKKDFPEGNIYLCEKGIPHAFVLDFSQEMATIVAEWINNRPPRK"
     exon            224..367
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            368..540
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            541..775
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            776..858
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            859..2718
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2696..2701
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /note="hexamer: AATAAA"
     polyA_site      2718
                     /gene="Ldah"
                     /gene_synonym="1110057K04Rik; mLDAH"
                     /note="major polyA site"
ORIGIN      
        1 agtacaggcg gaacttccgg gtctggtgag gctttgccga gacgtcggcg gacgacccca
       61 ataccttaga tggcctcaga agtcgaggaa caaatccctg tgcgtgagga gttctttctc
      121 tgtggtggag ttgaaaccaa gatcataaaa tgtgggccct ggactaacct ctttgagaaa
      181 caagacgtca gcaagccaaa acagcttatc ttcatcattc ccggtaaccc aggctattcc
      241 gcattctacg tgccatttgc aaaggccttg tacactttga tgaagagccg cttcccggta
      301 tggataatct ctcatgctgg gttttcggtg actcccaaag acaagaaggt tcttgcagca
      361 ccacaggaag agtcaaatgc tcaaaaaatt gaggacgtct atggtctgaa tggtcaaata
      421 gagcacaaaa tagcttttct gagagctcac gtgccaaagg atgtgaagct tatactcatt
      481 ggccattccg taggcaccta tatgaccctt cacgtgatga agcgagtccc cgagctgcct
      541 gtcgcccacg cctttctgct cttcccaact atcgaacgaa tgtctgaatc gcccaacggc
      601 aagtttgcca ctccattttt gtgccagttt cgatacctgc tctatgctac cagctactta
      661 ctttttaagc cgtgtcctga agtcataaaa tctttcataa tccaaaagct catgggacaa
      721 atgaacatta agcttgaact tcctttgacg gatatccttc aaccattttg ccttgctaac
      781 gctgcctacc tcgggagcca agaaatggtc cagatagtga agcgagatga tgacatcata
      841 aaggagtttc tccctaagct taagttttac tatggtaaaa ctgatggctg gtgtccagta
      901 aagtactatg aagacatgaa gaaagatttt ccagaaggca atatttacct ctgtgagaaa
      961 ggaataccac atgcttttgt tctcgatttt agccaggaga tggctaccat agttgctgag
     1021 tggataaata atagaccgcc cagaaaatag gtactggccc aggctggaga gatggctcag
     1081 tggttaagag tactgactgc tcttccagag gtcctgagtt cgattcccag caaccacatg
     1141 gtggctcaca accatctgta atgggatccg atgccctctt ctggtgtgtg tgaagacagc
     1201 tacattaaca ttaaaaaaaa taataattct ttaaaaaaaa taagtactgg cccaaggggg
     1261 gaaaaagtca cctacagcca atgaaagttc taggtgtgtt ctgcataggg gcaaatgttt
     1321 aatcgtaatg cttaaaagaa aactagagac cttcctggct tacagatttc cagctcccac
     1381 accctgcgct aagactaaag tgaacccggc tgacagctca ctccatgggg gagcagtgag
     1441 caaaggatgc taacggtgca cttgcctagt tgaggggaaa tcacttctga cttcatacgg
     1501 gtccttgctg agaccatcgc cgtgataggc gtgattcacc tgcaataaac caaacatcaa
     1561 gttggcctga catttatcaa ctaactagac agagttgctg aaggatcctg acttcatcct
     1621 gccacaggat aaccaacagg ctcctcctga gccctgaaag gccaggtccc tgctggctcc
     1681 tctagagcaa gaagggaggg ctgcagtgtc cacatcagat ttgcacggga tttctcatca
     1741 gtgtgattca gctagtgacc tccatggaca ggatgcagtg agccacccat tccattcatg
     1801 atgccattaa ctgccttggg actcttccct tctgaaaatt tcctaggaca tcatctttgg
     1861 aaaggtgttt taacttgttg agtaaagcat tagttcattc tccacttgcc taaactttat
     1921 tgattggaaa gaaaggattt tgtgactgtt cagagttctg aaagccatta aatttgtatt
     1981 tcttcattcc cgaaagcctt gaagtccagt agaaaagcat attcctggcc gagacgcgga
     2041 ggagtgcttc cttcctgaca tactggacag ctctgctacc ttaattgact cagtcctaag
     2101 atctcagagg ccaataaacc caactgtcta tatgacttga acagttggaa gcattccatt
     2161 gtcttgtaga gaaaagctct cctagcagta tcattcgttc ctcaagggca gttgagacgc
     2221 ccttcctctc aaacccctaa ggccctgatg acggatttgg ttctggtgtg ctgcctctca
     2281 ggggtgagag gaataggttc taatcacact cgctcactcc gctcattctg tatggtttct
     2341 acagaggagc tcagcctctc agcggggata agccaggctc cagacaagga gccttagtct
     2401 aggaagacaa cacgaggtcc tccctggtgt ctgcacaagg atgcctcctg cagagctgat
     2461 ctgcgaagcc aggcttcagg ctctgagtac cttgcttata gagcaggctt ggtcactggt
     2521 gggaatcaat gcataagaac aagtcctggc aagtcagacc tattggaaca aaggaatagc
     2581 atttgtggat gtctcttaca aattatttta catcactctt tgttttccaa atcctgctta
     2641 aaaggccctg gttcctcatt cctgttcctc gcctcaacgt caaatgatat tttataataa
     2701 atgtctcccc cgcagtca
//
