LOCUS       NM_177924               2779 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens N-acylsphingosine amidohydrolase 1 (ASAH1), transcript
            variant 1, mRNA.
ACCESSION   NM_177924
VERSION     NM_177924.5
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 2779)
  AUTHORS   Kleynerman,A., Rybova,J., Faber,M.L., McKillop,W.M., Levade,T. and
            Medin,J.A.
  TITLE     Acid Ceramidase Deficiency: Bridging Gaps between Clinical
            Presentation, Mouse Models, and Future Therapeutic Interventions
  JOURNAL   Biomolecules 13 (2), 274 (2023)
   PUBMED   36830643
  REMARK    GeneRIF: Acid Ceramidase Deficiency: Bridging Gaps between Clinical
            Presentation, Mouse Models, and Future Therapeutic Interventions.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2779)
  AUTHORS   Munk,R., Anerillas,C., Rossi,M., Tsitsipatis,D., Martindale,J.L.,
            Herman,A.B., Yang,J.H., Roberts,J.A., Varma,V.R., Pandey,P.R.,
            Thambisetty,M., Gorospe,M. and Abdelmohsen,K.
  TITLE     Acid ceramidase promotes senescent cell survival
  JOURNAL   Aging (Albany NY) 13 (12), 15750-15769 (2021)
   PUBMED   34102611
  REMARK    GeneRIF: Acid ceramidase promotes senescent cell survival.
REFERENCE   3  (bases 1 to 2779)
  AUTHORS   Malvi,P., Janostiak,R., Nagarajan,A., Zhang,X. and Wajapeyee,N.
  TITLE     N-acylsphingosine amidohydrolase 1 promotes melanoma growth and
            metastasis by suppressing peroxisome biogenesis-induced ROS
            production
  JOURNAL   Mol Metab 48, 101217 (2021)
   PUBMED   33766731
  REMARK    GeneRIF: N-acylsphingosine amidohydrolase 1 promotes melanoma
            growth and metastasis by suppressing peroxisome biogenesis-induced
            ROS production.
REFERENCE   4  (bases 1 to 2779)
  AUTHORS   Clifford,R.E., Govindarajah,N., Bowden,D., Sutton,P., Glenn,M.,
            Darvish-Damavandi,M., Buczacki,S., McDermott,U., Szulc,Z.,
            Ogretmen,B., Parsons,J.L. and Vimalachandran,D.
  TITLE     Targeting Acid Ceramidase to Improve the Radiosensitivity of Rectal
            Cancer
  JOURNAL   Cells 9 (12), 2693 (2020)
   PUBMED   33334013
  REMARK    GeneRIF: Targeting Acid Ceramidase to Improve the Radiosensitivity
            of Rectal Cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2779)
  AUTHORS   Ferlinz,K., Kopal,G., Bernardo,K., Linke,T., Bar,J., Breiden,B.,
            Neumann,U., Lang,F., Schuchman,E.H. and Sandhoff,K.
  TITLE     Human acid ceramidase: processing, glycosylation, and lysosomal
            targeting
  JOURNAL   J Biol Chem 276 (38), 35352-35360 (2001)
   PUBMED   11451951
REFERENCE   6  (bases 1 to 2779)
  AUTHORS   Li,C.M., Park,J.H., He,X., Levy,B., Chen,F., Arai,K., Adler,D.A.,
            Disteche,C.M., Koch,J., Sandhoff,K. and Schuchman,E.H.
  TITLE     The human acid ceramidase gene (ASAH): structure, chromosomal
            location, mutation analysis, and expression
  JOURNAL   Genomics 62 (2), 223-231 (1999)
   PUBMED   10610716
REFERENCE   7  (bases 1 to 2779)
  AUTHORS   Perry,D.K. and Hannun,Y.A.
  TITLE     The role of ceramide in cell signaling
  JOURNAL   Biochim Biophys Acta 1436 (1-2), 233-243 (1998)
   PUBMED   9838138
  REMARK    Review article
REFERENCE   8  (bases 1 to 2779)
  AUTHORS   Koch,J., Gartner,S., Li,C.M., Quintern,L.E., Bernardo,K.,
            Levran,O., Schnabel,D., Desnick,R.J., Schuchman,E.H. and
            Sandhoff,K.
  TITLE     Molecular cloning and characterization of a full-length
            complementary DNA encoding human acid ceramidase. Identification Of
            the first molecular lesion causing Farber disease
  JOURNAL   J Biol Chem 271 (51), 33110-33115 (1996)
   PUBMED   8955159
REFERENCE   9  (bases 1 to 2779)
  AUTHORS   Bernardo,K., Hurwitz,R., Zenk,T., Desnick,R.J., Ferlinz,K.,
            Schuchman,E.H. and Sandhoff,K.
  TITLE     Purification, characterization, and biosynthesis of human acid
            ceramidase
  JOURNAL   J Biol Chem 270 (19), 11098-11102 (1995)
   PUBMED   7744740
REFERENCE   10 (bases 1 to 2779)
  AUTHORS   Dyment,D.A., Bennett,S.A.L., Medin,J.A. and Levade,T.
  TITLE     ASAH1-Related Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29595935
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA306573.1, DA260852.1,
            AK289481.1, AY305384.1, AK222780.1, BU633536.1, AI241768.1 and
            AC124242.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_177924.4.
            
            Summary: This gene encodes a member of the acid ceramidase family
            of proteins. Alternative splicing results in multiple transcript
            variants, at least one of which encodes a preproprotein that is
            proteolytically processed. Processing of this preproprotein
            generates alpha and beta subunits that heterodimerize to form the
            mature lysosomal enzyme, which catalyzes the degradation of
            ceramide into sphingosine and free fatty acid. This enzyme is
            overexpressed in multiple human cancers and may play a role in
            cancer progression. Mutations in this gene are associated with the
            lysosomal storage disorder, Farber lipogranulomatosis, and a
            neuromuscular disorder, spinal muscular atrophy with progressive
            myoclonic epilepsy. [provided by RefSeq, Oct 2015].
            
            Transcript Variant: This variant (1) differs in the 5' UTR and
            coding sequence compared to variant 2. The resulting isoform (a)
            includes a predicted signal peptide, is shorter and has a distinct
            N-terminus compared to isoform b.
            
            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 :: SRR1803614.46311.1,
                                           SRR5189664.67191.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154125 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000637790.2/ ENSP00000490272.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-262               DA306573.1         264-525
            263-372             DA260852.1         459-568
            373-785             AK289481.1         537-949
            786-1139            AY305384.1         823-1176
            1140-1839           AK222780.1         1139-1838
            1840-2339           BU633536.1         18-517              c
            2340-2472           AI241768.1         1-133               c
            2473-2779           AC124242.6         210899-211205
FEATURES             Location/Qualifiers
     source          1..2779
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     gene            1..2779
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /note="N-acylsphingosine amidohydrolase 1"
                     /db_xref="GeneID:427"
                     /db_xref="HGNC:HGNC:735"
                     /db_xref="MIM:613468"
     exon            1..127
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..1237
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /EC_number="3.5.1.23"
                     /EC_number="3.5.1.109"
                     /note="isoform a preproprotein is encoded by transcript
                     variant 1; acylsphingosine deacylase; putative 32 kDa
                     heart protein; acid CDase; N-acylsphingosine
                     amidohydrolase (acid ceramidase) 1; N-acylethanolamine
                     hydrolase ASAH1; glycosylceramide deacylase"
                     /codon_start=1
                     /product="acid ceramidase isoform a preproprotein"
                     /protein_id="NP_808592.2"
                     /db_xref="CCDS:CCDS6006.1"
                     /db_xref="GeneID:427"
                     /db_xref="HGNC:HGNC:735"
                     /db_xref="MIM:613468"
                     /translation="MPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYR
                     GAVPWYTINLDLPPYKRWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLP
                     GLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRN
                     MDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGL
                     FSLTLNERFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKIL
                     APAYFILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRR
                     TPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPC
                     IGW"
     exon            128..174
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            175..265
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            266..352
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            353..431
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            432..506
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            507..552
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            553..697
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            698..752
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            753..834
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            835..966
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            967..1090
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1147
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..2779
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2298..2303
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /note="hexamer: AATAAA"
     polyA_site      2319
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /note="major polyA site"
     polyA_site      2356
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
     regulatory      2451..2456
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /note="hexamer: ATTAAA"
     regulatory      2461..2466
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /note="hexamer: ACTAAA"
     polyA_site      2472
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
     polyA_site      2486
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
     regulatory      2759..2764
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /note="hexamer: AGTAAA"
     polyA_site      2779
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
ORIGIN      
        1 cttctttgcc tctgctggag tccggggagt ggcgttggct gctagagcga tgccgggccg
       61 gagttgcgtc gccttagtcc tcctggctgc cgccgtcagc tgtgccgtcg cgcagcacgc
      121 gccgccgtgg acagaggact gcagaaaatc aacctatcct ccttcaggac caacgtacag
      181 aggtgcagtt ccatggtaca ccataaatct tgacttacca ccctacaaaa gatggcatga
      241 attgatgctt gacaaggcac cagtgctaaa ggttatagtg aattctctga agaatatgat
      301 aaatacattc gtgccaagtg gaaaaattat gcaggtggtg gatgaaaaat tgcctggcct
      361 acttggcaac tttcctggcc cttttgaaga ggaaatgaag ggtattgccg ctgttactga
      421 tataccttta ggagagatta tttcattcaa tattttttat gaattattta ccatttgtac
      481 ttcaatagta gcagaagaca aaaaaggtca tctaatacat gggagaaaca tggattttgg
      541 agtatttctt gggtggaaca taaataatga tacctgggtc ataactgagc aactaaaacc
      601 tttaacagtg aatttggatt tccaaagaaa caacaaaact gtcttcaagg cttcaagctt
      661 tgctggctat gtgggcatgt taacaggatt caaaccagga ctgttcagtc ttacactgaa
      721 tgaacgtttc agtataaatg gtggttatct gggtattcta gaatggattc tgggaaagaa
      781 agatgtcatg tggatagggt tcctcactag aacagttctg gaaaatagca caagttatga
      841 agaagccaag aatttattga ccaagaccaa gatattggcc ccagcctact ttatcctggg
      901 aggcaaccag tctggggaag gttgtgtgat tacacgagac agaaaggaat cattggatgt
      961 atatgaactc gatgctaagc agggtagatg gtatgtggta caaacaaatt atgaccgttg
     1021 gaaacatccc ttcttccttg atgatcgcag aacgcctgca aagatgtgtc tgaaccgcac
     1081 cagccaagag aatatctcat ttgaaaccat gtatgatgtc ctgtcaacaa aacctgtcct
     1141 caacaagctg accgtataca caaccttgat agatgttacc aaaggtcaat tcgaaactta
     1201 cctgcgggac tgccctgacc cttgtatagg ttggtgagca cacgtctggc ctacagaatg
     1261 cggcctctga gacatgaaga caccatctcc atgtgaccga acactgcagc tgtctgacct
     1321 tccaaagact aagactcgcg gcaggttctc tttgagtcaa tagcttgtct tcgtccatct
     1381 gttgacaaat gacagatctt ttttttttcc ccctatcagt tgatttttct tatttacaga
     1441 taacttcttt aggggaagta aaacagtcat ctagaattca ctgagttttg tttcactttg
     1501 acatttgggg atctggtggg cagtcgaacc atggtgaact ccacctccgt ggaataaatg
     1561 gagattcagc gtgggtgttg aatccagcac gtctgtgtga gtaacgggac agtaaacact
     1621 ccacattctt cagtttttca cttctaccta catatttgta tgtttttctg tataacagcc
     1681 ttttccttct ggttctaact gctgttaaaa ttaatatatc attatctttg ctgttattga
     1741 cagcgatata attttattac atatgattag agggatgaga cagacattca cctgtatatt
     1801 tcttttaatg ggcacaaaat gggcccttgc ctctaaatag cactttttgg ggttcaagaa
     1861 gtaatcagta tgcaaagcaa tcttttatac aataattgaa gtgttccctt tttcataatt
     1921 actctacttc ccagtaaccc taaggaagtt gctaacttaa aaaactgcat cccacgttct
     1981 gttaatttag taaataaaca agtcaaagac ttgtggaaaa taggaagtga acccatattt
     2041 taaattctca taagtagcat tcatgtaata aacaggtttt tagtttgttc ttcagattga
     2101 tagggagttt taaagaaatt ttagtagtta ctaaaattat gttactgtat ttttcagaaa
     2161 tcaaactgct tatgaaaagt actaatagaa cttgttaacc tttctaacct tcacgattaa
     2221 ctgtgaaatg tacgtcattt gtgcaagacc gtttgtccac ttcattttgt ataatcacag
     2281 ttgtgttcct gacactcaat aaacagtcac tggaaagagt gccagtcagc agtcatgcac
     2341 gctgattggg tgtgtacatc tgtgttggtt tggaggaggg gggttattat caagaaatac
     2401 aagctgaaca tcgtatctga attaaataac aagggttatg taagtgggtt attaaatatg
     2461 actaaacggt cacaatctta ctcttacatg actgatacca cctcttaacc agatactatc
     2521 aacccaattt gcaggtgttt aaaggcagtt tttcccccag ataggtggtg cttccacaaa
     2581 actttagtga ttccaagatt actttagtga aacgaggaat tataagagga tttacattaa
     2641 aataggattt aattaatgaa aaaaaaactt tactcagatt ttctacctct tacataaatg
     2701 aagtcaggtc aacttgatgt atttttttgt taatgtaata acctttgata tgcctgatag
     2761 taaagaggtg agatgctaa
//
