LOCUS       NM_021925               3917 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens lipid droplet associated hydrolase (LDAH), transcript
            variant 1, mRNA.
ACCESSION   NM_021925
VERSION     NM_021925.4
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 3917)
  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   2  (bases 1 to 3917)
  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   3  (bases 1 to 3917)
  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 lipid droplet-associated serine
            hydrolase (LDAH) a candidate target to promote reverse cholesterol
            transport from atherosclerotic lesions.
REFERENCE   4  (bases 1 to 3917)
  AUTHORS   Long,Q.Z., Du,Y.F., Ding,X.Y., Li,X., Song,W.B., Yang,Y., Zhang,P.,
            Zhou,J.P. and Liu,X.G.
  TITLE     Replication and fine mapping for association of the C2orf43, FOXP4,
            GPRC6A and RFX6 genes with prostate cancer in the Chinese
            population
  JOURNAL   PLoS One 7 (5), e37866 (2012)
   PUBMED   22662242
  REMARK    GeneRIF: Our results provide further support for association of the
            C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in
            Eastern Asian populations
REFERENCE   5  (bases 1 to 3917)
  AUTHORS   Shen,H., Damcott,C.M., Rampersaud,E., Pollin,T.I., Horenstein,R.B.,
            McArdle,P.F., Peyser,P.A., Bielak,L.F., Post,W.S., Chang,Y.P.,
            Ryan,K.A., Miller,M., Rumberger,J.A., Sheedy,P.F. 2nd, Shelton,J.,
            O'Connell,J.R., Shuldiner,A.R. and Mitchell,B.D.
  TITLE     Familial defective apolipoprotein B-100 and increased low-density
            lipoprotein cholesterol and coronary artery calcification in the
            old order amish
  JOURNAL   Arch Intern Med 170 (20), 1850-1855 (2010)
   PUBMED   21059979
REFERENCE   6  (bases 1 to 3917)
  AUTHORS   Takata,R., Akamatsu,S., Kubo,M., Takahashi,A., Hosono,N.,
            Kawaguchi,T., Tsunoda,T., Inazawa,J., Kamatani,N., Ogawa,O.,
            Fujioka,T., Nakamura,Y. and Nakagawa,H.
  TITLE     Genome-wide association study identifies five new susceptibility
            loci for prostate cancer in the Japanese population
  JOURNAL   Nat Genet 42 (9), 751-754 (2010)
   PUBMED   20676098
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   7  (bases 1 to 3917)
  AUTHORS   Barber,M.J., Mangravite,L.M., Hyde,C.L., Chasman,D.I., Smith,J.D.,
            McCarty,C.A., Li,X., Wilke,R.A., Rieder,M.J., Williams,P.T.,
            Ridker,P.M., Chatterjee,A., Rotter,J.I., Nickerson,D.A.,
            Stephens,M. and Krauss,R.M.
  TITLE     Genome-wide association of lipid-lowering response to statins in
            combined study populations
  JOURNAL   PLoS One 5 (3), e9763 (2010)
   PUBMED   20339536
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3917)
  AUTHORS   Wan,H.C., Melo,R.C., Jin,Z., Dvorak,A.M. and Weller,P.F.
  TITLE     Roles and origins of leukocyte lipid bodies: proteomic and
            ultrastructural studies
  JOURNAL   FASEB J 21 (1), 167-178 (2007)
   PUBMED   17135363
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC421670.1, BC017473.1, AC012065.8 and AW243875.1.
            
            On Nov 22, 2018 this sequence version replaced NM_021925.3.
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.141765.1,
                                           SRR1803614.198119.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000237822.8/ ENSP00000237822.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DC421670.1         30-43
            15-2722             BC017473.1         1-2708
            2723-3556           AC012065.8         202079-202912       c
            3557-3917           AW243875.1         20-380              c
FEATURES             Location/Qualifiers
     source          1..3917
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p24.1"
     gene            1..3917
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /note="lipid droplet associated hydrolase"
                     /db_xref="GeneID:60526"
                     /db_xref="HGNC:HGNC:26145"
                     /db_xref="MIM:613570"
     exon            1..65
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            66..221
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..1045
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /EC_number="3.1.1.13"
                     /note="isoform a is encoded by transcript variant 1;
                     UPF0554 protein C2orf43; lipid droplet-associated serine
                     hydrolase"
                     /codon_start=1
                     /product="lipid droplet-associated hydrolase isoform a"
                     /protein_id="NP_068744.1"
                     /db_xref="CCDS:CCDS1702.1"
                     /db_xref="GeneID:60526"
                     /db_xref="HGNC:HGNC:26145"
                     /db_xref="MIM:613570"
                     /translation="MDSELKEEIPVHEEFILCGGAETQVLKCGPWTDLFHDQSVKRPK
                     LLIFIIPGNPGFSAFYVPFAKALYSLTNRRFPVWTISHAGHALAPKDKKILTTSEDSN
                     AQEIKDIYGLNGQIEHKLAFLRTHVPKDMKLVLIGHSIGSYFTLQMLKRVPELPVIRA
                     FLLFPTIERMSESPNGRIATPLLCWFRYVLYVTGYLLLKPCPETIKSLLIRRGLQVMN
                     LENEFSPLNILEPFCLANAAYLGGQEMMEVVKRDDETIKEHLCKLTFYYGTIDPWCPK
                     EYYEDIKKDFPEGDIRLCEKNIPHAFITHFNQEMADMIADSLKDDLSKM"
     exon            222..365
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            366..535
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            536..770
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            771..853
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /inference="alignment:Splign:2.1.0"
     exon            854..3917
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2872..2877
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /note="hexamer: AATAAA"
     polyA_site      2890
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /note="major polyA site"
     regulatory      3896..3901
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /note="hexamer: AATAAT"
     polyA_site      3917
                     /gene="LDAH"
                     /gene_synonym="C2orf43; hLDAH"
                     /note="major polyA site"
ORIGIN      
        1 acttccggtc tcgtgccgcc ttcccaggac cctcagggag agcgggcagc cttccaggtg
       61 gacagaaatg gactcagaac tcaaggaaga aattcctgtg catgaggaat tcattttgtg
      121 tggtggagcc gaaacccagg ttctaaaatg tgggccctgg acagacctct ttcatgatca
      181 aagtgtcaaa aggcctaagc tgcttatttt cattattcct ggtaacccag gtttttctgc
      241 cttttatgtg ccatttgcaa aggctttata ctctttgaca aacagacgct ttccagtttg
      301 gactatcagt catgctgggc atgcgttggc tcccaaagac aagaagattc ttacaacatc
      361 agaggattca aacgctcaag aaattaagga catttatgga ctaaatggac aaatagagca
      421 caaactagct ttcctgagaa ctcatgtgcc aaaggacatg aaacttgtgc tcattggcca
      481 ttcaataggc agctatttca cacttcagat gctgaagcga gtccctgagc tcccggtaat
      541 tcgtgccttt ctgctctttc caacaattga acgaatgtct gagtcaccca atggcagaat
      601 tgccactcca cttttgtgct ggtttcgata tgttctctat gttactggct acttattatt
      661 gaaaccgtgt cctgagacaa tcaagtcctt gctaatcaga aggggccttc aagtaatgaa
      721 cctagagaat gaattttcac cattgaatat attagaacca ttctgccttg ctaatgctgc
      781 ctaccttggg ggccaagaaa tgatggaggt ggtgaagaga gatgacgaaa ccataaagga
      841 gcatttatgt aagcttacat tttattatgg tactatagat ccttggtgtc caaaagagta
      901 ctatgaagac attaagaagg attttccaga aggagacatt cgactctgtg agaaaaacat
      961 acctcatgct ttcatcaccc attttaacca ggaaatggca gacatgattg ctgactccct
     1021 aaaggatgac ttgtccaaaa tgtaaattgg cctgaggaac aagcccccac tgccagtaca
     1081 tggaggcagt cagtgtacta gacttagtag gtaaatgttt aattttgaag actgatatta
     1141 gaaatgaaga aagtgagaac ctttgtctta caaaccaact ctccgctcgc catgttatag
     1201 gctgaagtaa acacagttga tgaatcattc cataggttta accatacatt ttccaagact
     1261 cagggaacac agtgatctac acagagtctt gtgtttgcac aagatgccca gtggcaccat
     1321 atggtttatt ttggtaggca ggatctttgc agatgaaaaa aaaatctaca tgtacttgat
     1381 tttaattgag ttacattgta gaataggctc ctctggagga aattatgaaa tacctactag
     1441 aaaatgtaaa ataaatcagt gaatgttaag agtatagtta gatatgtgaa gtgtatgaga
     1501 ttatgacaag gatacactca tgttccagga gcaggaagtg aacctgggtc tcctgtaaga
     1561 cagaagatga agatgagccc aggctaactt agcacagatc ttggctgaga tcatcaatgt
     1621 gacgtctaat gtacctgcac tagacagaga ataaagttca ccagacatta ctctggtcag
     1681 ctaaccagat aaagaattgt tgaaggaccc caactgtgcc tcctgccaca ggacaaccag
     1741 caagttctat gctgagcctt agcctcccag gttataagct ccctgcaggc tcctcctctc
     1801 cagagccagg atggagaggc actgggctgt cccaaagcag gcttggatgt gccaacgtac
     1861 agttgctcct tctgtaattc ttgcactaaa actccattaa agaccatcaa tgagccaaat
     1921 agtgtgctag ccattgagga tggagttctt agctacttaa tgattctttt cttctggaaa
     1981 tcttctagtg aataattttt aaaagcttct tttaaactgc tcagtaaaac attgccatac
     2041 attaactctc catttctgca ttaacttcat ttgctggaaa gaaattattt tgttaatgaa
     2101 ccaaacccag ccattaagtt atgtgaattc accttctcta gacacattga ggtatggcag
     2161 agaagacaca tattccctgg cctagagtgg gctgacaata ttgctgcctc ccctaaattg
     2221 actcaatctt gagaaccaca tactgcagtg acagttgatc atggatcaga aatattcctt
     2281 tttctcctag aggaaatccc tcatggcatt atcattccct aaggacaatg agatgtccct
     2341 ccgctcaaat cctaaagccc cctgatgaaa gatttggctc tgatttgctg ccaacttatt
     2401 ggtaagtgct gaatgagtta ctgtgctttg gcatagcttc tacatcacag caagtgactt
     2461 ctcagagggg aaaagccaag ctccagacaa ggagtgctgt tagcccaagg ggaagagcta
     2521 atagatacat aggccgtaag cacagggctg tacacagatc ctttattggc atctgcatga
     2581 gaggcctaga aatcggatgt tagaagctag gaatcatggc tctgagcgcc ttgcatacag
     2641 gagatactca ctgatactaa atcaaggcat gtaaacaata ctgggtaaat catacctacc
     2701 agaataaaga gtaacattca gagcttttct tttatctgtt attttaaatg ttactccata
     2761 tttcaaaagt ctgcacgtat gaaattgtgt cttatttctg gtttttagag cctaagaaag
     2821 atactcattc ttaattccta tttatcatct gaaaaccaaa tgaatttttg aaataaatgt
     2881 tttaccagca tttctgacct ggtctggcct gatctctgtg ttgggcaaga gagggtacaa
     2941 tttgagcagt tctcctgagt tagactcggc tcaaagtctc tcttttaaag tgaaaagcca
     3001 cctttctcat tgcttttttc ataggtggaa gaatcagatt tcaagagact gaagttcatt
     3061 ctgtttcatt agggattaga ctaaaatgga caaacagtgg aagaaatcca ttttccagaa
     3121 gcagctctgc ctgtatgtcc cagtcaacca catggatggt ctttgtgaaa gttttaactt
     3181 cctgcagagt taccgagtgc tcagcgattg agctttgacc acacccgtgt ttgttcctag
     3241 tctgttccca gccataagca tctccacaag ccctctgtgg cttgtgtggc ctgatgtcca
     3301 tggccaccaa gggcctctca ccatacgctt ctccactcaa cctttggaga gacacggacc
     3361 accaaaggct tgatttttct tcatcctaca ttatattcaa aacaaacagg ctgggtgccg
     3421 tagctcacac ctgtgatccc agcaccttgg gaggatgagc tgggaagatc gtttgaggct
     3481 aggagtttga gaccagcccg tgcaaaaaac gagacctcgt gtctaaaata atttttaaaa
     3541 aagagcaaaa aaaaaaagca atttcagatt aaaggagact gaagagacat gacaattgga
     3601 cacaacatct gattctgaat tggatgtttt tgttataaaa gacattgttg agacaatttg
     3661 cacaacttga atgaggtctg aagattagct gggagtaaga tgccactgtt aattttctga
     3721 tttcagtggt tgtactggga agaagtaaga gagtgtcctt gtttgtactg gagacactga
     3781 ggtatctggg ggtgaggggc atcatgtctg tttactgtca gatggttgag gggaaaataa
     3841 tgttctttgt acttgcagat tttttggaag tttgagatgt tttagaattt gtaaaaataa
     3901 ttatttttaa aacccca
//
