LOCUS HSASML 4311 bp DNA PRI 04-OCT-1994 DEFINITION H.sapiens genes for acid sphingomyelinase ASM. ACCESSION X63600 NID g556808 KEYWORDS acid sphingomyelinase; ASM gene; sphingomyelin phosphodiesterase. SOURCE human. ORGANISM Homo sapiens Eukaryotae; mitochondrial eukaryotes; Metazoa; Chordata; Vertebrata; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 4311) AUTHORS Hofmann,K. TITLE Direct Submission JOURNAL Submitted (27-DEC-1991) K. Hofmann, Institut fuer Biochemie, Universitaet Koeln, Joseph Stelzmann Str. 52, 5000 Koeln, FRG REMARK revised by [3] MAT REFERENCE 2 (bases 1 to 4311) AUTHORS Newrzella,D. and Stoffel,W. TITLE Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene JOURNAL Biol. Chem. Hoppe-Seyler 373 (12), 1233-1238 (1992) MEDLINE 93183402 REFERENCE 3 (bases 1 to 4311) AUTHORS Hofmann,K. TITLE Direct Submission JOURNAL Submitted (04-OCT-1994) K. Hofmann, Institut fuer Biochemie, Universitaet Koeln, Joseph Stelzmann Str. 52, 5000 Koeln, FRG FEATURES Location/Qualifiers source 1..4311 /organism="Homo sapiens" /db_xref="taxon:9606" /clone_lib="genomic" /clone="CTG3" protein_bind 70..79 /note="putative" /bound_moiety="Sp1" mRNA join(<230..541,1008..1780,2833..3004,3234..3310, 3513..3658,3815..>4224) /gene="ASM" gene 230..4224 /gene="ASM" exon <230..541 /gene="ASM" /number=1 CDS join(230..541,1008..1780,2833..3004,3234..3310,3513..3658, 3815..4224) /gene="ASM" /EC_number="3.1.4.12" /codon_start=1 /product="acid sphingomyelinase" /db_xref="PID:g556809" /db_xref="SWISS-PROT:P17405" /translation="MPRYGASLRQSCPRSGREQGQDGTAGAPGLLWMGLVLALALALA LALSDSRVLWAPAEAHPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLG LKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLL LGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTD PDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWT GDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEG NHSSRWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWL LINSTDPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYENTL AAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSRSS HVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQL FQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWP RPLFC" intron 542..1007 /gene="ASM" /number=1 exon 1008..1780 /gene="ASM" /number=2 intron 1781..2832 /gene="ASM" /number=2 repeat_region 1970..2104 /note="first half" /rpt_family="Alu" repeat_region 2133..2407 /rpt_family="Alu" exon 2833..3004 /gene="ASM" /number=3 intron 3005..3233 /gene="ASM" /number=3 exon 3234..3310 /gene="ASM" /number=4 intron 3311..3512 /gene="ASM" /number=4 exon 3513..3658 /gene="ASM" /number=5 intron 3659..3814 /gene="ASM" /number=5 exon 3815..>4224 /gene="ASM" /number=6 BASE COUNT 844 a 1291 c 1159 g 1017 t ORIGIN 1 cctccgcctc cgcagcgttg acagccgccc gccaccgaga gatcagctgt cagagatcag 61 aggaagagga aggggcggag ctgctttgcg gccggccgcg gagcagtcag ccgactacag 121 agaagggtaa tcgggtgtcc ccggcgccgc ccggggccct gagggctggc tagggtccag 181 gccggggggg acgggacaga cgaaccagcc ccgtgtagga agcgcgacaa tgccccgcta 241 cggagcgtca ctccgccaga gctgccccag gtccggccgg gagcagggac aagacgggac 301 cgccggagcc cccggactcc tttggatggg cctggtgctg gcgctggcgc tggcgctggc 361 gctggctctg tctgactctc gggttctctg ggctccggca gaggctcacc ctctttctcc 421 ccaaggccat cctgccaggt tacatcgcat agtgccccgg ctccgagatg tctttgggtg 481 ggggaacctc acctgcccaa tctgcaaagg tctattcacc gccatcaacc tcgggctgaa 541 ggtgagcact gaaggggctg cagtggagga ggccgaaagg agtgctgggg ctgggggctg 601 gggctgatgc tggtgcgcct gggctcagaa tgcatccctg atggagaggg tggcatctac 661 aatccatcac tgagtttgct cccctttggg acacccatgg ctacatgcca ccatcacccc 721 attgtgacct ttgtgaagta agaaaataat gcagacagtg cctgaggaag tcagcttgcc 781 aagcaaaggc ctcatgccac aggccggctg agctaaagag aagcgatggc ctggtgctgc 841 ctgagttaca ggcaatatct ggaaggcaaa ggtgtgcact gagcttggtg cactgagtcc 901 tgcccagccc cagtttggaa atggaggccc aaggggtggt ggccaggggt tggcctggtt 961 cctctgctct gcctctgatt tctcaccatg cgctcctccc actgcagaag gaacccaatg 1021 tggctcgcgt gggctccgtg gccatcaagc tgtgcaatct gctgaagata gcaccacctg 1081 ccgtgtgcca atccattgtc cacctctttg aggatgacat ggtggaggtg tggagacgct 1141 cagtgctgag cccatctgag gcctgtggcc tgctcctggg ctccacctgt gggcactggg 1201 acattttctc atcttggaac atctctttgc ctactgtgcc gaagccgccc cccaaacccc 1261 ctagcccccc agccccaggt gcccctgtca gccgcatcct cttcctcact gacctgcact 1321 gggatcatga ctacctggag ggcacggacc ctgactgtgc agacccactg tgctgccgcc 1381 ggggttctgg cctgccgccc gcatcccggc caggtgccgg atactggggc gaatacagca 1441 agtgtgacct gcccctgagg accctggaga gcctgttgag tgggctgggc ccagccggcc 1501 cttttgatat ggtgtactgg acaggagaca tccccgcaca tgatgtctgg caccagactc 1561 gtcaggacca actgcgggcc ctgaccaccg tcacagcact tgtgaggaag ttcctggggc 1621 cagtgccagt gtaccctgct gtgggtaacc atgaaagcac acctgtcaat agcttccctc 1681 cccccttcat tgagggcaac cactcctccc gctggctcta tgaagcgatg gccaaggctt 1741 gggagccctg gctgcctgcc gaagccctgc gcaccctcag gtacttatcg tccgtggaaa 1801 cccaggaagg gaaaagaaag gtgaatgaaa gtgaagggag aagggaacct ggggcattgt 1861 ctctgattgc tctagcatga gtccttagtg ctcttcattt ggctccccta atctgactcc 1921 tccttccctt tctactgttt tgccgcacca ggcttttttt tttttttttt tttagtttag 1981 tttttgtaga gacaagatct tgctatgttg cccaggctgg tctcaaacac ctaacctcaa 2041 gcaatcctcc cgcctcggcc tcccaaaatg ctgggaccac aggcatcagc tactgctcct 2101 ggccctccct tttttttttt tttttttttt ttgagatgga atcttgctct gttgcccagg 2161 ctggagtgca gtggcaccat ctcagctcac tacagcctcc acctcctggg ttcaagcaat 2221 tctgcctcag cctcccaagt acctgggact acaggtgcac gccaccacac ccagctaatt 2281 tttgtatttt tagtagagat ggggtttcac catgttggcc aagatggtct tgatctcctg 2341 acctcatgat ctgcccacct cggcctccca aagtgctggg attacaggca tgaaccactg 2401 cacccagctt tccagccctc cctttctact cttatctcca gccaccctcc ttcaaaggtc 2461 tggcagcata acctctctat gccccagctg tgtctttgct catattggcc ctctggaaat 2521 gatttccccc ttttttttaa gtgctccagt ttttcccacc ttatccatcc catgtcatct 2581 tccctctgtg tggtccttgc ttcccattct agctaactct tatccctccc ccatactcct 2641 ggagccctct gccctcagag tcttttgtgt cacacagacc caataattag aactgtttgg 2701 tctctggcta gactgtgagc tccttgcagg tggggaagat gtcatgtatg cttttaccct 2761 ccacccaaat gcccagcaca ggaggaccag gattggaaca agtgttgacc tctcatgttt 2821 actttgtttc agaattgggg ggttctatgc tctttcccca taccccggtc tccgcctcat 2881 ctctctcaat atgaattttt gttcccgtga gaacttctgg ctcttgatca actccacgga 2941 tcccgcagga cagctccagt ggctggtggg ggagcttcag gctgctgagg atcgaggaga 3001 caaagtgagg gccagtagtg ggaacacggt ggtgctgggg gacaagcagg ctcctgttga 3061 gctggagcac ctctgggcac agaagtttta ttttcctggc attcccaaca agtgttccct 3121 ggggattcag ctcatggtca ctgttgaaag ccttcattca gtcccccttt ctctagccag 3181 ggctgcctgg acccctggat gccctgatta ccatccttaa ttctccctac taggtgcata 3241 taattggcca cattccccca gggcactgtc tgaagagctg gagctggaat tattaccgaa 3301 ttgtagccag gtaggacgga gatgagggtg ggaataggga cagggtgagt gtctgaaggc 3361 tgaaaattcc cttgagcatc tcaccatccc tgttgtccca tggagtgggg aggctcctca 3421 ctagaacagg ttggagaaag agggcatcct atctccccag atgtcttcct acccctccct 3481 agaatcttct gaatgtagta ccttctggcc aggtatgaga acaccctggc tgctcagttc 3541 tttggccaca ctcatgtgga tgaatttgag gtcttctatg atgaagagac tctgagccgg 3601 ccgctggctg tagccttcct ggcacccagt gcaactacct acatcggcct taatcctggt 3661 gagtgaggca gaagggagcc tcccttatcc tggagttggt gggatagggg aaggaggttg 3721 gagccagagc ctgcaaagca tgggcaggat gtgtggcccc tccctggagt tacccttgct 3781 ccttgcccct ccagtcagcc ccacatcctt gcaggttacc gtgtgtacca aatagatgga 3841 aactactcca ggagctctca cgtggtcctg gaccatgaga cctacatcct gaatctgacc 3901 caggcaaaca taccgggagc cataccgcac tggcagcttc tctacagggc tcgagaaacc 3961 tatgggctgc ccaacacact gcctaccgcc tggcacaacc tggtatatcg catgcggggc 4021 gacatgcaac ttttccagac cttctggttt ctctaccata agggccaccc accctcggag 4081 ccctgtggca cgccctgccg tctggctact ctttgtgccc agctctctgc ccgtgctgac 4141 agccctgctc tgtgccgcca cctgatgcca gatgggagcc tcccagaggc ccagagcctg 4201 tggccaaggc cactgttttg ctagggcccc agggcccaca tttgggaaag ttcttgatgt 4261 aggaaagggt gaaaaagccc aaatgctgct gtggttcaac caggcaagat c //