LOCUS       NM_001127505            2872 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens N-acylsphingosine amidohydrolase 1 (ASAH1), transcript
            variant 3, mRNA.
ACCESSION   NM_001127505
VERSION     NM_001127505.3
KEYWORDS    RefSeq.
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 2872)
  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 2872)
  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 2872)
  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 2872)
  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 2872)
  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 2872)
  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 2872)
  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 2872)
  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 2872)
  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 2872)
  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 DA260852.1, BC016828.1,
            AK289481.1, AY305384.1, AK222780.1, BU633536.1, AI241768.1 and
            AC124242.6.
            
            On May 31, 2019 this sequence version replaced NM_001127505.2.
            
            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 (3) contains an alternate in-frame
            exon and lacks another alternate in-frame exon compared to variant
            2. The resulting isoform (c) has the same N- and C-termini but is
            shorter 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 :: BC016828.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-333               DA260852.1         38-370
            334-565             BC016828.1         358-589
            566-878             AK289481.1         637-949
            879-1232            AY305384.1         823-1176
            1233-1932           AK222780.1         1139-1838
            1933-2432           BU633536.1         18-517              c
            2433-2565           AI241768.1         1-133               c
            2566-2872           AC124242.6         210899-211205
FEATURES             Location/Qualifiers
     source          1..2872
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p22"
     gene            1..2872
                     /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..286
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     CDS             161..1330
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /EC_number="3.5.1.23"
                     /EC_number="3.5.1.109"
                     /note="isoform c is encoded by transcript variant 3;
                     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 c"
                     /protein_id="NP_001120977.1"
                     /db_xref="CCDS:CCDS47813.1"
                     /db_xref="GeneID:427"
                     /db_xref="HGNC:HGNC:735"
                     /db_xref="MIM:613468"
                     /translation="MNCCIGLGEKARGSHRASYPSLSALFTEASILGFGSFAVKAQWT
                     EDCRKSTYPPSGPTVFPAVIRYRGAVPWYTINLDLPPYKRWHELMLDKAPVPGLLGNF
                     PGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVF
                     LGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLN
                     ERFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFI
                     LGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMC
                     LNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW"
     exon            287..333
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            334..354
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            355..445
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            446..524
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            525..599
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            600..645
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            646..790
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            791..845
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            846..927
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            928..1059
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            1060..1183
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1240
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..2872
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2391..2396
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /note="hexamer: AATAAA"
     polyA_site      2412
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /note="major polyA site"
     polyA_site      2449
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
     regulatory      2544..2549
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /note="hexamer: ATTAAA"
     regulatory      2554..2559
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /note="hexamer: ACTAAA"
     polyA_site      2565
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
     polyA_site      2579
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
     regulatory      2852..2857
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
                     /note="hexamer: AGTAAA"
     polyA_site      2872
                     /gene="ASAH1"
                     /gene_synonym="AC; ACDase; ASAH; PHP; PHP32; SMAPME"
ORIGIN      
        1 gaaatccaac ccggtcacct acccgcgcga ctgtgtccac ggatggcacg aaagccaagc
       61 gagtccccct gccgagctac tcgcgtccgc ctcctcccaa gctgagctct gctccgccca
      121 cctgagtcct tcgccagtta ggaggaaaca cagccgctta atgaactgct gcatcgggct
      181 gggagagaaa gctcgcgggt cccaccgggc ctcctaccca agtctcagcg cgcttttcac
      241 cgaggcctca attctgggat ttggcagctt tgctgtgaaa gcccaatgga cagaggactg
      301 cagaaaatca acctatcctc cttcaggacc aactgtcttc cctgctgtta taaggtacag
      361 aggtgcagtt ccatggtaca ccataaatct tgacttacca ccctacaaaa gatggcatga
      421 attgatgctt gacaaggcac cagtgcctgg cctacttggc aactttcctg gcccttttga
      481 agaggaaatg aagggtattg ccgctgttac tgatatacct ttaggagaga ttatttcatt
      541 caatattttt tatgaattat ttaccatttg tacttcaata gtagcagaag acaaaaaagg
      601 tcatctaata catgggagaa acatggattt tggagtattt cttgggtgga acataaataa
      661 tgatacctgg gtcataactg agcaactaaa acctttaaca gtgaatttgg atttccaaag
      721 aaacaacaaa actgtcttca aggcttcaag ctttgctggc tatgtgggca tgttaacagg
      781 attcaaacca ggactgttca gtcttacact gaatgaacgt ttcagtataa atggtggtta
      841 tctgggtatt ctagaatgga ttctgggaaa gaaagatgtc atgtggatag ggttcctcac
      901 tagaacagtt ctggaaaata gcacaagtta tgaagaagcc aagaatttat tgaccaagac
      961 caagatattg gccccagcct actttatcct gggaggcaac cagtctgggg aaggttgtgt
     1021 gattacacga gacagaaagg aatcattgga tgtatatgaa ctcgatgcta agcagggtag
     1081 atggtatgtg gtacaaacaa attatgaccg ttggaaacat cccttcttcc ttgatgatcg
     1141 cagaacgcct gcaaagatgt gtctgaaccg caccagccaa gagaatatct catttgaaac
     1201 catgtatgat gtcctgtcaa caaaacctgt cctcaacaag ctgaccgtat acacaacctt
     1261 gatagatgtt accaaaggtc aattcgaaac ttacctgcgg gactgccctg acccttgtat
     1321 aggttggtga gcacacgtct ggcctacaga atgcggcctc tgagacatga agacaccatc
     1381 tccatgtgac cgaacactgc agctgtctga ccttccaaag actaagactc gcggcaggtt
     1441 ctctttgagt caatagcttg tcttcgtcca tctgttgaca aatgacagat cttttttttt
     1501 tccccctatc agttgatttt tcttatttac agataacttc tttaggggaa gtaaaacagt
     1561 catctagaat tcactgagtt ttgtttcact ttgacatttg gggatctggt gggcagtcga
     1621 accatggtga actccacctc cgtggaataa atggagattc agcgtgggtg ttgaatccag
     1681 cacgtctgtg tgagtaacgg gacagtaaac actccacatt cttcagtttt tcacttctac
     1741 ctacatattt gtatgttttt ctgtataaca gccttttcct tctggttcta actgctgtta
     1801 aaattaatat atcattatct ttgctgttat tgacagcgat ataattttat tacatatgat
     1861 tagagggatg agacagacat tcacctgtat atttctttta atgggcacaa aatgggccct
     1921 tgcctctaaa tagcactttt tggggttcaa gaagtaatca gtatgcaaag caatctttta
     1981 tacaataatt gaagtgttcc ctttttcata attactctac ttcccagtaa ccctaaggaa
     2041 gttgctaact taaaaaactg catcccacgt tctgttaatt tagtaaataa acaagtcaaa
     2101 gacttgtgga aaataggaag tgaacccata ttttaaattc tcataagtag cattcatgta
     2161 ataaacaggt ttttagtttg ttcttcagat tgatagggag ttttaaagaa attttagtag
     2221 ttactaaaat tatgttactg tatttttcag aaatcaaact gcttatgaaa agtactaata
     2281 gaacttgtta acctttctaa ccttcacgat taactgtgaa atgtacgtca tttgtgcaag
     2341 accgtttgtc cacttcattt tgtataatca cagttgtgtt cctgacactc aataaacagt
     2401 cactggaaag agtgccagtc agcagtcatg cacgctgatt gggtgtgtac atctgtgttg
     2461 gtttggagga ggggggttat tatcaagaaa tacaagctga acatcgtatc tgaattaaat
     2521 aacaagggtt atgtaagtgg gttattaaat atgactaaac ggtcacaatc ttactcttac
     2581 atgactgata ccacctctta accagatact atcaacccaa tttgcaggtg tttaaaggca
     2641 gtttttcccc cagataggtg gtgcttccac aaaactttag tgattccaag attactttag
     2701 tgaaacgagg aattataaga ggatttacat taaaatagga tttaattaat gaaaaaaaaa
     2761 ctttactcag attttctacc tcttacataa atgaagtcag gtcaacttga tgtatttttt
     2821 tgttaatgta ataacctttg atatgcctga tagtaaagag gtgagatgct aa
//
