LOCUS       NM_019734               2264 bp    mRNA    linear   ROD 28-JAN-2025
DEFINITION  Mus musculus N-acylsphingosine amidohydrolase 1 (Asah1), mRNA.
ACCESSION   NM_019734
VERSION     NM_019734.3
KEYWORDS    RefSeq; RefSeq Select.
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 2264)
  AUTHORS   Mandasari,P., Hollmann,C., Zaidi,R.H., Low,S., Schrama,J.,
            Wigger,D., Schumacher,F., Kleuser,B. and Beyersdorf,N.
  TITLE     Acid ceramidase expression reduces IFNgamma secretion by mouse CD4+
            T cells and is crucial for maintaining B-cell numbers in mice
  JOURNAL   Front Immunol 15, 1309846 (2024)
   PUBMED   38919612
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2264)
  AUTHORS   Nagree,M.S., Rybova,J., Kleynerman,A., Ahrenhoerster,C.J.,
            Saville,J.T., Xu,T., Bachochin,M., McKillop,W.M., Lawlor,M.W.,
            Pshezhetsky,A.V., Isaeva,O., Budde,M.D., Fuller,M. and Medin,J.A.
  TITLE     Spinal muscular atrophy-like phenotype in a mouse model of acid
            ceramidase deficiency
  JOURNAL   Commun Biol 6 (1), 560 (2023)
   PUBMED   37231125
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2264)
  AUTHORS   Yuan,X., Bhat,O.M., Zou,Y., Zhang,Y. and Li,P.L.
  TITLE     Contribution of Hepatic Steatosis-Intensified Extracellular Vesicle
            Release to Aggravated Inflammatory Endothelial Injury in
            Liver-Specific Asah1 Gene Knockout Mice
  JOURNAL   Am J Pathol 193 (4), 493-508 (2023)
   PUBMED   36638912
REFERENCE   4  (bases 1 to 2264)
  AUTHORS   Li,G., Huang,D., Zou,Y., Kidd,J., Gehr,T.W.B., Li,N., Ritter,J.K.
            and Li,P.L.
  TITLE     Impaired autophagic flux and dedifferentiation in podocytes lacking
            Asah1 gene: Role of lysosomal TRPML1 channel
  JOURNAL   Biochim Biophys Acta Mol Cell Res 1870 (1), 119386 (2023)
   PUBMED   36302466
REFERENCE   5  (bases 1 to 2264)
  AUTHORS   Hose,M., Gunther,A., Naser,E., Schumacher,F., Schonberger,T.,
            Falkenstein,J., Papadamakis,A., Kleuser,B., Becker,K.A.,
            Gulbins,E., Haimovitz-Friedman,A., Buer,J., Westendorf,A.M. and
            Hansen,W.
  TITLE     Cell-intrinsic ceramides determine T cell function during melanoma
            progression
  JOURNAL   Elife 11, e83073 (2022)
   PUBMED   36426850
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2264)
  AUTHORS   He,X., Okino,N., Dhami,R., Dagan,A., Gatt,S., Schulze,H.,
            Sandhoff,K. and Schuchman,E.H.
  TITLE     Purification and characterization of recombinant, human acid
            ceramidase. Catalytic reactions and interactions with acid
            sphingomyelinase
  JOURNAL   J Biol Chem 278 (35), 32978-32986 (2003)
   PUBMED   12815059
  REMARK    GeneRIF: biochemistry of acid ceramidase reaction with acid
            sphingomyelinase
REFERENCE   7  (bases 1 to 2264)
  AUTHORS   Li,C.M., Park,J.H., Simonaro,C.M., He,X., Gordon,R.E.,
            Friedman,A.H., Ehleiter,D., Paris,F., Manova,K., Hepbildikler,S.,
            Fuks,Z., Sandhoff,K., Kolesnick,R. and Schuchman,E.H.
  TITLE     Insertional mutagenesis of the mouse acid ceramidase gene leads to
            early embryonic lethality in homozygotes and progressive lipid
            storage disease in heterozygotes
  JOURNAL   Genomics 79 (2), 218-224 (2002)
   PUBMED   11829492
  REMARK    GeneRIF: Mutagenesis leads to early embryonic lethality in
            homozygotes and progressive lipid storage disease in heterozygotes.
            Erratum:[Genomics 2002 Jun;79(6):890. Hepbiloikler Stefan
            [corrected to Hepbildikler Stefan]]
REFERENCE   8  (bases 1 to 2264)
  AUTHORS   Strelow,A., Bernardo,K., Adam-Klages,S., Linke,T., Sandhoff,K.,
            Kronke,M. and Adam,D.
  TITLE     Overexpression of acid ceramidase protects from tumor necrosis
            factor-induced cell death
  JOURNAL   J Exp Med 192 (5), 601-612 (2000)
   PUBMED   10974027
REFERENCE   9  (bases 1 to 2264)
  AUTHORS   Hong,S.B., Li,C.M., Rhee,H.J., Park,J.H., He,X., Levy,B., Yoo,O.J.
            and Schuchman,E.H.
  TITLE     Molecular cloning and characterization of a human cDNA and gene
            encoding a novel acid ceramidase-like protein
  JOURNAL   Genomics 62 (2), 232-241 (1999)
   PUBMED   10610717
REFERENCE   10 (bases 1 to 2264)
  AUTHORS   Li,C.M., Hong,S.B., Kopal,G., He,X., Linke,T., Hou,W.S., Koch,J.,
            Gatt,S., Sandhoff,K. and Schuchman,E.H.
  TITLE     Cloning and characterization of the full-length cDNA and genomic
            sequences encoding murine acid ceramidase
  JOURNAL   Genomics 50 (2), 267-274 (1998)
   PUBMED   9653654
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BY160973.1, AK151478.1 and
            AW124297.1.
            
            On Oct 10, 2015 this sequence version replaced NM_019734.2.
            
            Summary: This gene encodes acid ceramidase, an enzyme that plays a
            central role in ceramide metabolism. The encoded protein undergoes
            proteolytic processing to generate a heterodimeric enzyme comprised
            of alpha and beta subunits that catalyzes the hydrolysis of
            sphingolipid ceramide into sphingosine and free fatty acid. The
            homozygous disruption of this gene leads to embryonic lethality in
            mice whereas the heterozygous animals exhibit a progressive lipid
            storage disease phenotype. [provided by RefSeq, Oct 2015].
            
            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 :: AK152920.1, AK153101.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-367               BY160973.1         2-368
            368-2099            AK151478.1         359-2090
            2100-2264           AW124297.1         1-165               c
FEATURES             Location/Qualifiers
     source          1..2264
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 23.89 cM"
     gene            1..2264
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /note="N-acylsphingosine amidohydrolase 1"
                     /db_xref="GeneID:11886"
                     /db_xref="MGI:MGI:1277124"
     exon            1..188
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..1298
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /EC_number="3.5.1.23"
                     /note="ACDase; acid CDase; acylsphingosine deacylase; acid
                     ceramidase; N-acylethanolamine hydrolase ASAH1"
                     /codon_start=1
                     /product="acid ceramidase preproprotein"
                     /protein_id="NP_062708.1"
                     /db_xref="CCDS:CCDS22262.1"
                     /db_xref="GeneID:11886"
                     /db_xref="MGI:MGI:1277124"
                     /translation="MRGQSLLTWVLAAAVTCAQAQDVPPWTEDCRKSTYPPSGPTYRG
                     PVPWHTINLDLPPYKRWHELLAQKAPALRILVNSITSLVNTFVPSGKLMKMVDQKLPG
                     MIGSLPDPFGEEMRGIADVTGIPLGEIISFNIFYELFTMCTSIITEDEKGHLLHGRNM
                     DFGIFLGWNINNNTWVVTEELKPLTVNLDFQRNNKTVFKATSFVGYVGMLTGFKPGLF
                     SLSLNERFSINGGYLGILEWMFGRKDAQWVGFITRSVLENTTSYEEAKNTLTKTKIMA
                     PVYFILGGKKSGEGCVITRERKESLDVYELDPKHGRWYVVQTNYDRWKNTLFIDDRRT
                     PAKKCLNHTTQKNLSFATIYDVLSTKPVLNKLTVFTTLMDVTKGQFESHLRDCPDPCI
                     GW"
     exon            189..235
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            236..326
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            327..413
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            414..492
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            493..567
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            568..613
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            614..758
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            759..813
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            814..895
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            896..1027
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            1028..1151
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            1152..1208
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     exon            1209..2248
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2211..2216
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /note="hexamer: AATAAA"
     polyA_site      2232
                     /gene="Asah1"
                     /gene_synonym="2310081N20Rik; AC; Asah"
                     /note="major polyA site"
ORIGIN      
        1 ggtgtggccc agggtcgctg atcacgcgtt ggggtgcggc ctgctgctgg tggaggtggt
       61 ccctgctgca gctgctgcta gagtccctcg gagcggcgct tgcagctggg aagatgcggg
      121 gccaaagtct tctcacctgg gtcctagccg cggcagtcac ctgcgcccag gcacaggatg
      181 tgccgccgtg gacagaagat tgcagaaaat caacgtatcc tccttctgga ccaacctata
      241 gaggaccagt tccgtggcac accataaatc ttgatttacc accctacaaa agatggcatg
      301 aattattggc tcaaaaggca ccagcgttga ggattttagt gaattccata acgagtttag
      361 tgaatacatt tgtgccaagt ggaaaactaa tgaagatggt ggatcaaaag ctgcctggta
      421 tgattggcag ccttcctgac ccttttggag aggaaatgag gggaattgca gatgttactg
      481 ggattcctct aggagagatt atttcattca acattttcta tgaattgttt accatgtgta
      541 catcaatcat aactgaagat gagaaaggtc atttactaca tgggagaaac atggattttg
      601 gaatatttct tgggtggaat ataaataata acacttgggt tgtcacagaa gaattaaagc
      661 ccttaacagt gaatttggac ttccaaagaa acaataagac tgttttcaag gctacaagtt
      721 ttgttggata tgtgggcatg ttgacaggat tcaaaccagg actgttcagt ctttcactaa
      781 atgaacgttt cagtataaat ggtggttatc tgggtatcct agaatggatg ttcggaagga
      841 aagatgccca gtgggtaggg tttatcactc gatcagttct ggaaaacacc acaagttatg
      901 aagaagccaa gaacacactg accaagacca agataatggc gccagtatat tttatcctgg
      961 gaggcaagaa gtctggagag ggttgtgtga tcacacggga aagaaaagag tctttggatg
     1021 tctatgaact tgatcctaag catggcagat ggtatgtggt acaaaccaat tatgacaggt
     1081 ggaaaaacac cttgtttatt gatgaccgca gaacaccggc caagaagtgt ctaaatcaca
     1141 ccacacagaa gaatctctcc tttgctacca tctatgatgt cctatcaaca aaacctgtcc
     1201 tcaacaagct gactgtattc acaaccttga tggatgttac caaaggtcaa tttgaaagtc
     1261 accttcgaga ttgcccagac ccttgtatag gctggtgagc acacgttggc cagccttgag
     1321 gacgtactga gacccgaaga tgtgttgtgc agagagcgtg cctggtctcc ttccataggc
     1381 taaggctcaa ggcctcttgt ctttagtcag gactgtcctc atcatgttac attgtttaca
     1441 ggctgttttg ttgtttgttt gttctgatga tcatcatcac ttcgactcac aggtaaattc
     1501 tttaagggac accacataga aattgccagt tcatttcact ttgccactgc ggaaagggta
     1561 actgtgacct ccatggaacc catcaaagtt ctctgatggt gtttgagtca gcgccctgtg
     1621 tgattaatgt aaaagttaca ttttcttttt taatctacat acttatgttt ttctgtacac
     1681 cagtagtttt ccttttcctg gttctctctt agaaccaacc tgccattcac ctttgctggt
     1741 ggtgacagca gtgcaatgtc gctatgcttg gctggagtac ctcagataga catttgatac
     1801 ttattttaat gggcaatcaa tagacctctg actctagaaa cagtgttttg gaggattata
     1861 aaataactat tatacaaaca ctattttttt aaaaaagaat aagtgttctc tttttcctag
     1921 ttattctgcc tgccagtaac cccaggaaga gtctagcttc aaaaacccac aaactcatta
     1981 tttttaattc ttttatgtat aatcaatgta atgttttttc cttctaatca tattttttta
     2041 gattttcata caatatagta ttaatatttt tcagaaatca atgtatttat gaaaactgca
     2101 aacagaactt gttcatcttt ctaaccttca cagttgacag tgaagcattc tgtacagtgt
     2161 ggcagactgt atccatttag ttttggacag tctgcggtgt cgtgatgcgc aataaacagt
     2221 cactgtcaga tatgtcagca gtcatgcaaa aaaaaaaaaa aaaa
//
