LOCUS       NM_001321958            5145 bp    mRNA    linear   PRI 11-FEB-2024
DEFINITION  Homo sapiens N-acylsphingosine amidohydrolase 2B (ASAH2B),
            transcript variant 3, mRNA.
ACCESSION   NM_001321958 XM_005270060
VERSION     NM_001321958.2
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 5145)
  AUTHORS   Avramopoulos,D., Wang,R., Valle,D., Fallin,M.D. and Bassett,S.S.
  TITLE     A novel gene derived from a segmental duplication shows perturbed
            expression in Alzheimer's disease
  JOURNAL   Neurogenetics 8 (2), 111-120 (2007)
   PUBMED   17334805
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK294369.1, AL589794.7 and CA312157.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001321958.1.
            
            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 :: SRR1803614.271426.1,
                                           SRR1803617.251214.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647317.2/ ENSP00000496089.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1255              AK294369.1         1-1255
            1256-2695           AL589794.7         115366-116805
            2696-3078           CA312157.1         13-395              c
            3079-5145           AL589794.7         117189-119255
FEATURES             Location/Qualifiers
     source          1..5145
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.23"
     gene            1..5145
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /note="N-acylsphingosine amidohydrolase 2B"
                     /db_xref="GeneID:653308"
                     /db_xref="HGNC:HGNC:23456"
                     /db_xref="MIM:610987"
     exon            1..48
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /inference="alignment:Splign:2.1.0"
     exon            49..144
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /inference="alignment:Splign:2.1.0"
     exon            145..291
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..630
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /note="isoform 2 is encoded by transcript variant 3;
                     putative inactive neutral ceramidase B; ASAH2-like
                     protein; putative inactive non-lysosomal ceramidase B;
                     N-acylsphingosine amidohydrolase (non-lysosomal
                     ceramidase) 2B; putative inactive N-acylsphingosine
                     amidohydrolase 2B"
                     /codon_start=1
                     /product="putative inactive neutral ceramidase B isoform
                     2"
                     /protein_id="NP_001308887.1"
                     /db_xref="CCDS:CCDS81465.1"
                     /db_xref="GeneID:653308"
                     /db_xref="HGNC:HGNC:23456"
                     /db_xref="MIM:610987"
                     /translation="MVANLSRGPEPPFFKQLIVPLIPSIVDRAPKGRTFGDVLQPAKP
                     EYRVGEVAEVIFVGANPKNSVQNQTHQTFLTVEKYEATSTSWQIVCNDASWETRFYWH
                     KGLLGLSNATVEWHIPDTAQPGIYRIRYFGHNRKQDILKPAVILSFEGTSPAFEVVTI
                     "
     exon            292..351
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /inference="alignment:Splign:2.1.0"
     exon            352..440
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /inference="alignment:Splign:2.1.0"
     exon            441..5145
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2657..2662
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /note="hexamer: AATAAA"
     polyA_site      2676
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /note="major polyA site"
     regulatory      3052..3057
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /note="hexamer: AATAAA"
     polyA_site      3078
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /note="major polyA site"
     regulatory      5123..5128
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
                     /note="hexamer: AATACA"
     polyA_site      5145
                     /gene="ASAH2B"
                     /gene_synonym="ASAH2C; ASAH2L; bA449O16.3; bA98I6.3"
ORIGIN      
        1 gtttccggcg gtgtggaagc ggacctgagg agtcgcaatt gtgaacaggc tcagcgatat
       61 gaggcagcat cgacaattta tggaccgcac gcattatctg cttacattca gctcttcaga
      121 aaccttgcta aggctattgc tacggacatg gtagccaacc tgagcagagg tccagaacct
      181 ccctttttca aacaattaat agttccatta attcctagta ttgtggatag agcaccaaaa
      241 ggcagaactt tcggggatgt cctgcagcca gcaaaacctg aatacagagt gggggaagtt
      301 gctgaagtta tatttgtagg tgctaacccg aagaattcag tacaaaacca gacccatcag
      361 accttcctca ctgtggagaa atatgaggct acttcaacat cgtggcagat agtgtgtaat
      421 gatgcctcct gggagactcg tttttattgg cacaagggac tcctgggtct gagtaatgca
      481 acagtggaat ggcatattcc agacactgcc cagcctggaa tctacagaat aagatatttt
      541 ggacacaatc ggaagcagga cattctgaag cctgctgtca tactttcatt tgaaggcact
      601 tccccggctt ttgaagttgt aactatttag tgaaaagttg atagatcatt taaagaacag
      661 ctttactctc tacacattat ataagtgatt tcaaatgaat gtgaactagt gaactaccat
      721 gttgacttct ataatcgtcc ctgtttgggg acagatagtt tactgctaat ggggtggagg
      781 ggtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgtatg tgagagagag
      841 agagagagag agaggtttgt cccatatatc ttgttccagc agccatatat cttgtggtct
      901 acagcctaaa gcatgatttc ccttgaagtc ttggggttgt ttaaaggaga gtcccttcaa
      961 tataaaacct ctgaaatatt agtgagaatg gctcactaat gtgaacaatg tttaaattat
     1021 ttatttatat atagaattac tgaatattag tactgggaaa atttatagaa atcatctagt
     1081 cttacccttc atcttacata taagaaaaat ggtcttttct tctaatcaca tttacaaaat
     1141 atgatataaa ccttgaccat gaatgtatga gcctaattag agaaacagaa aatcagcatg
     1201 tcagttttcc ttcattcaaa ataacatagt ctttctaagc agtcattctg gagttaacat
     1261 gcctagttca gagccgctgt ggatgctcaa atcatttctg gaattgcctt caggacacaa
     1321 ttatgagaaa gtcagacttc caatattttg atcatgcctt gtgtcttcct aagtgtcctt
     1381 atcccactgg attgtgtctc ttactcccaa gacttattcc aaatgatttt ttgactcttt
     1441 tcattaatca aattcacccc aaaccagaaa gttttgccat tagcgtagat attaaaaata
     1501 ttactggctg ggaaagcact cctcaaagca gaggttctaa attaatttat ctgttctttt
     1561 accatttgct cactcactca ctcatggacc cattcaatca tagaatattt aagatttata
     1621 tgcccagaat tataatagtg cctaggcctt gataattagt gaatttgtac ttggggtgaa
     1681 tgtgtaagtg tcaaaaggta actattatga aggagaaaat aatcgattta atatgtaaat
     1741 tctggggagg catttaaaaa atcagtaatc ttcaagttat atcttgtgta tcatctgtgt
     1801 tggatactct aatttggggg gaaagaggct ccagacagtt tgctaaatac tattttgaaa
     1861 gttatttttg ggcattgtaa aataccttgc ttcatacccc aaagaataag atatgacaat
     1921 ctgacatcga ttgtctgaaa gtactaattg catttaaaat tctttaagtt aactacaacc
     1981 tcccagactg caaagcaaat ttccaaaccc caggtcatac ttttgtatgt atgtaaaagc
     2041 tttagcattt tagggaaaaa aatcaatctg tatttcaaaa ataaactttg aggtttgaaa
     2101 ataataacaa tattcataat ggtagtatta acatctatta tgtataactt aatctcaaca
     2161 taatttattg aattagaatg aacctggaac actttttgat gaattggtat cctagaggct
     2221 gtttccttgg gccttaactg ctggaggatt aggtaatcag ggattccaag tgttgtgatc
     2281 ttttttctga tgacgccaca gtcttcagtg taaaagttca gaagcctaaa agaacaagtg
     2341 atcctgaaag tagctgattc cagacaagaa aattatatta gaactcatga tatggttttt
     2401 taaagtattt gttattactc agaagggttc atgaatcagt ttccactacc tctattcctt
     2461 ctattgaagc tttcctcaaa tctacttgtg attcctgata gctcactggc aactgtacca
     2521 aggtggccac tgtatcatct actgatcctt ctgcacctag cactcttggc tccagataac
     2581 gcacagaaac ctattttctc accagctgtc atttcttcta gggcatgcag ttctatgttc
     2641 acagttcatg tgtaaaaata aaaccaaatt cctggattat caatatcagt tctttacctg
     2701 tgcataaaag aatatcatga agtaattgaa cttatctgtt gatataaaaa cacagatcca
     2761 attcgtgtct gtggatgctg caaggactgg ctcactggag ccaaaccatg tggcggaaac
     2821 tcctgaaatt ggtggaaaaa gtggaatatg gcagattggg taggtaggag aacaattttg
     2881 gagattttgt ttctcatgtt aaagtgtctg cattttattt gctgtaccct gcctactctg
     2941 gttttaagga ttttttgact tcttcgaaaa gcactgaata atctctttgc cgggtctaga
     3001 ttttttgatg agtactgtgt aaaattgtca atattcaatg gattatttaa taataaatta
     3061 agaattacac tcataaaagt attgtctaat gaaaggtaat gtagacaaac gaacactttt
     3121 ttaaaaaaag aggtggaaca aaaggtggta gattacatgt aaattaggtt ggaaagtgat
     3181 acaaatgact tgtaaataac cactgaagca caagggaacc acttctttat cagttccttt
     3241 ctaacttctg aagatgtact gctggtaaag cacatgtatg gttggcattt cttttatttt
     3301 ctttctcttt tttactagtt gggcaaaaaa atttcctagg caggtagcta actatgaaat
     3361 tgtttcctgc gctaattctg aacaaaaaga ccaagaatga atttacttat gaatgtcctt
     3421 ttctaatgtg ccctcttatg cttctcctcc aatgtaagca agcttactgt ctttttctaa
     3481 gattagcgca tggattctat ctttagccaa aaggtttcat cactagatga acttctcatg
     3541 tgtttagttc ttccaaatga tgctcttgct tcctgggtat ccaacctgac ttgctggttt
     3601 atattggctt ccaaaatttt agagtgatag ggtatcggag agggaaattt gcacattcct
     3661 tatgcaattt gttagtatgc attcagctgt aactcagaaa atattcctga tcaacatgca
     3721 tccaaacact aaagacattt ataacctcac atagcagtaa gtcttgaagt gataaattca
     3781 ggtttggtgc agccactcag tggctcttct taatatattg acttaattct taggcttatc
     3841 ctcttagcta aaagatcgct acctcaagtc tacatataat tgaatgcggc agcaaaatgg
     3901 gaggagagag ttctctttat aatccccttt tagaaggtgg aaaatagtaa gaacacaagt
     3961 tgaattttcc ttctatttct ttgttcagaa ctgtgccaca cagctactct tacctgcaag
     4021 ggaagctgga aaaaagaata tttagtattt tgtgcttcta gagagtgagg caagttctga
     4081 tagtaagaaa gaagagatag ccgaagtagc tgtcataaaa ttatgttagt caagacagat
     4141 tagttatgct acaacattag agatttattt cttgatctca tgacctgtcc attggggtta
     4201 gctgaaggat ctgttccaca tctcatttga gttcacaggc tgacagagac ttccattcta
     4261 aacattcttc cattgtgagg gaacaggaac aggtgcttcc atgattaggg ggaagggaca
     4321 gggagaatca tgcaatagtt cgtgaagctt ccacattact gtgcattttt cactgggcag
     4381 gtgacagaac caggatattt gcaagcagcc ctaaaggtta ccacagtggg caagcaataa
     4441 tatctgcata tccaaattaa ctgctctttg aaataattag aactcgtttt actctagaaa
     4501 atatattttg gaaaagaaca cacattggaa taatgacgaa aaaaattgct ttctgtattg
     4561 caaaatgtat acgttccttt aacagattta tatcaagcac ctatatactt tatggcagaa
     4621 attatgctaa atcctaagaa tgaaacaata atgaaggcaa agctattccc tgccaaaagg
     4681 aacttagagt ttaacgaaca aagcaaacgg atgaacaggt aattactgta cagagtgacc
     4741 catattgtta ttgttcaggg aattagagag ggcacctaat atggtcttgg ggatgtttca
     4801 gtaagtttcc tggaagaaat aacatataag ctaagactta aaagatatgt agaaattagc
     4861 tagaaggaag gcaatggtgt gtgcatgtat gtgtgtatta gtttgtgttt gtgtttgtgt
     4921 actgggcaaa tagactattc catgtagagg gaatattgag tactttatca agactatagt
     4981 tagagtataa ggaaagagtt gacagtgagg cagcaccaaa ctttaccttc ataaatagca
     5041 atttggtttt atacttgtat tagcattttt cccccttgac atcaatgtcc ttgaatgtat
     5101 ttgccatttg ctctaataat aaaatacact ttctataacc aaaaa
//
