LOCUS       NM_133492               1428 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.
ACCESSION   NM_133492
VERSION     NM_133492.3
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 1428)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1428)
  AUTHORS   Mao,Z., Sun,W., Xu,R., Novgorodov,S., Szulc,Z.M., Bielawski,J.,
            Obeid,L.M. and Mao,C.
  TITLE     Alkaline ceramidase 2 (ACER2) and its product dihydrosphingosine
            mediate the cytotoxicity of N-(4-hydroxyphenyl)retinamide in tumor
            cells
  JOURNAL   J Biol Chem 285 (38), 29078-29090 (2010)
   PUBMED   20628055
REFERENCE   3  (bases 1 to 1428)
  AUTHORS   Xu,R., Sun,W., Jin,J., Obeid,L.M. and Mao,C.
  TITLE     Role of alkaline ceramidases in the generation of sphingosine and
            its phosphate in erythrocytes
  JOURNAL   FASEB J 24 (7), 2507-2515 (2010)
   PUBMED   20207939
REFERENCE   4  (bases 1 to 1428)
  AUTHORS   Sun,W., Xu,R., Hu,W., Jin,J., Crellin,H.A., Bielawski,J.,
            Szulc,Z.M., Thiers,B.H., Obeid,L.M. and Mao,C.
  TITLE     Upregulation of the human alkaline ceramidase 1 and acid ceramidase
            mediates calcium-induced differentiation of epidermal keratinocytes
  JOURNAL   J Invest Dermatol 128 (2), 389-397 (2008)
   PUBMED   17713573
  REMARK    GeneRIF: upregulation of haCER1 and AC mediates the Ca2+(o)-induced
            growth arrest and differentiation of keratinocytes by generating
            sphingosine and its phosphate
REFERENCE   5  (bases 1 to 1428)
  AUTHORS   Toulza,E., Mattiuzzo,N.R., Galliano,M.F., Jonca,N., Dossat,C.,
            Jacob,D., de Daruvar,A., Wincker,P., Serre,G. and Guerrin,M.
  TITLE     Large-scale identification of human genes implicated in epidermal
            barrier function
  JOURNAL   Genome Biol 8 (6), R107 (2007)
   PUBMED   17562024
REFERENCE   6  (bases 1 to 1428)
  AUTHORS   Houben,E., Holleran,W.M., Yaginuma,T., Mao,C., Obeid,L.M.,
            Rogiers,V., Takagi,Y., Elias,P.M. and Uchida,Y.
  TITLE     Differentiation-associated expression of ceramidase isoforms in
            cultured keratinocytes and epidermis
  JOURNAL   J Lipid Res 47 (5), 1063-1070 (2006)
   PUBMED   16477081
REFERENCE   7  (bases 1 to 1428)
  AUTHORS   Mao,C., Xu,R., Szulc,Z.M., Bielawski,J., Becker,K.P., Bielawska,A.,
            Galadari,S.H., Hu,W. and Obeid,L.M.
  TITLE     Cloning and characterization of a mouse endoplasmic reticulum
            alkaline ceramidase: an enzyme that preferentially regulates
            metabolism of very long chain ceramides
  JOURNAL   J Biol Chem 278 (33), 31184-31191 (2003)
   PUBMED   12783875
REFERENCE   8  (bases 1 to 1428)
  AUTHORS   Ito,M., Okino,N., Tani,M., Mitsutake,S. and Mori,K.
  TITLE     [Molecular evolution of neutral ceramidase: signalling molecule and
            virulence factor]
  JOURNAL   Tanpakushitsu Kakusan Koso 47 (4 Suppl), 455-462 (2002)
   PUBMED   11915342
  REMARK    GeneRIF: regulates the signaling system mediated by sphingolipids
            Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC112122.1, CU449837.1 and AC114268.2.
            
            On May 17, 2019 this sequence version replaced NM_133492.2.
            
            Summary: Ceramides are synthesized during epidermal differentiation
            and accumulate within the interstices of the stratum corneum, where
            they represent critical components of the epidermal permeability
            barrier. Excess cellular ceramide can trigger antimitogenic signals
            and induce apoptosis, and the ceramide metabolites sphingosine and
            sphingosine-1-phosphate (S1P) are important bioregulatory
            molecules. Ceramide hydrolysis in the nucleated cell layers
            regulates keratinocyte proliferation and apoptosis in response to
            external stress. Ceramide hydrolysis also occurs at the stratum
            corneum, releasing free sphingoid base that functions as an
            endogenous antimicrobial agent. ACER1 is highly expressed in
            epidermis and catalyzes the hydrolysis of very long chain ceramides
            to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun
            et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC112122.1, AF347024.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000301452.5/ ENSP00000301452.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-954               BC112122.1         18-971
            955-1071            CU449837.1         416-532
            1072-1428           AC114268.2         21995-22351         c
FEATURES             Location/Qualifiers
     source          1..1428
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1428
                     /gene="ACER1"
                     /gene_synonym="ALKCDase1; ASAH3"
                     /note="alkaline ceramidase 1"
                     /db_xref="GeneID:125981"
                     /db_xref="HGNC:HGNC:18356"
                     /db_xref="MIM:613491"
     exon            1..154
                     /gene="ACER1"
                     /gene_synonym="ALKCDase1; ASAH3"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..856
                     /gene="ACER1"
                     /gene_synonym="ALKCDase1; ASAH3"
                     /EC_number="3.5.1.23"
                     /note="N-acylsphingosine amidohydrolase (alkaline
                     ceramidase) 3; alkCDase 1; alkaline CDase 1;
                     acylsphingosine deacylase 3; N-acylsphingosine
                     amidohydrolase 3; CTB-180A7.3"
                     /codon_start=1
                     /product="alkaline ceramidase 1"
                     /protein_id="NP_597999.1"
                     /db_xref="CCDS:CCDS12161.1"
                     /db_xref="GeneID:125981"
                     /db_xref="HGNC:HGNC:18356"
                     /db_xref="MIM:613491"
                     /translation="MPSIFAYQSSEVDWCESNFQYSELVAEFYNTFSNIPFFIFGPLM
                     MLLMHPYAQKRSRYIYVVWVLFMIIGLFSMYFHMTLSFLGQLLDEIAILWLLGSGYSI
                     WMPRCYFPSFLGGNRSQFIRLVFITTVVSTLLSFLRPTVNAYALNSIALHILYIVCQE
                     YRKTSNKELRHLIEVSVVLWAVALTSWISDRLLCSFWQRIHFFYLHSIWHVLISITFP
                     YGMVTMALVDANYEMPGETLKVRYWPRDSWPVGLPYVEIRGDDKDC"
     exon            155..269
                     /gene="ACER1"
                     /gene_synonym="ALKCDase1; ASAH3"
                     /inference="alignment:Splign:2.1.0"
     exon            270..411
                     /gene="ACER1"
                     /gene_synonym="ALKCDase1; ASAH3"
                     /inference="alignment:Splign:2.1.0"
     exon            412..549
                     /gene="ACER1"
                     /gene_synonym="ALKCDase1; ASAH3"
                     /inference="alignment:Splign:2.1.0"
     exon            550..687
                     /gene="ACER1"
                     /gene_synonym="ALKCDase1; ASAH3"
                     /inference="alignment:Splign:2.1.0"
     exon            688..1428
                     /gene="ACER1"
                     /gene_synonym="ALKCDase1; ASAH3"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 cttcccaagc tcgccttctc tctgccgggc gcagccggct ggtggtggcc actgagacaa
       61 gatgcctagc atcttcgcct atcagagctc cgaggtggac tggtgtgaga gcaacttcca
      121 gtactcggag ctggtggccg agttctacaa cacgttctcc aatatcccct tcttcatctt
      181 cgggccactg atgatgctcc tgatgcaccc gtatgcccag aagcgctccc gctacattta
      241 cgttgtctgg gtcctcttca tgatcatagg cctgttctcc atgtatttcc acatgacgct
      301 cagcttcctg ggccagctgc tggacgagat cgccatcctg tggctcctgg gcagtggcta
      361 tagcatatgg atgccccgct gctatttccc ctccttcctt ggggggaaca ggtcccagtt
      421 catccgcctg gtcttcatca ccactgtggt cagcaccctt ctgtccttcc tgcggcccac
      481 ggtcaacgcc tacgccctca acagcattgc cctgcacatt ctctacatcg tgtgccagga
      541 gtacaggaag accagcaata aggagcttcg gcacctgatt gaggtctccg tggttttatg
      601 ggctgttgct ctgaccagct ggatcagtga ccgtctgctt tgcagcttct ggcagaggat
      661 tcatttcttc tatctgcaca gcatctggca tgtgctcatc agcatcacct tcccttatgg
      721 catggtcacc atggccttgg tggatgccaa ctatgagatg ccaggtgaaa ccctcaaagt
      781 ccgctactgg cctcgggaca gttggcccgt ggggctgccc tacgtggaaa tccggggtga
      841 tgacaaggac tgctgagacc tgccagcctc ttgactatcc aaccacccaa caacttgcct
      901 gtgtcttgag aagatagccc cggtcaggac ttgcacctgc gggacactcg tggttccttc
      961 ctctgtttcc ccttccgtgt cctccttgtc ctgcgctgcc ctgccttgag gcagatgatg
     1021 gactttgtga catctctgag cagcagcctg gtgactgtgg ggggctgtct cgtgcatctc
     1081 ccctccatga ccccccccat cctctttcat ttcctcctct gtgtccacag cctcccagtg
     1141 accattgtca catgagctgg tgggactgtg tcaccaggta ctggggtgac tgaaggatgt
     1201 ggcatctaaa tattagcttc taggctggga acggtggctc acgcctataa tcccagcact
     1261 ttgggaggcc gaggtgggtg gatcacctga ggtcagaagt tcaagactag cctggccaac
     1321 atggcaaaac cccgcctcta ctaaaaatac aaaaattagc cgggcgtggt ggtgcatgcc
     1381 tgtaatctca gctacttggg aggctgaggc aggagaatcg cttgaacc
//
