Path: utzoo!utgpu!watserv1!watmath!att!emory!swrinde!elroy.jpl.nasa.gov!sdd.hp.com!decwrl!sgi!llustig!bionet!root From: GenBank-Updates@genbank.bio.net Newsgroups: bionet.molbio.genbank.updates Subject: Human mutant cerebrosidase sulfatide activator protein (SAP-MU-9) Message-ID: Date: 11 May 91 12:00:30 GMT Sender: root@genbank.bio.net Distribution: bionet Lines: 81 Approved: lear@genbank.bio.net Checksum: 13410 5 LOCUS HUMSAPA1 2726 bp ss-mRNA PRI 11-MAY-1991 DEFINITION Human mutant cerebrosidase sulfatide activator protein (SAP-MU-9) mRNA, complete cds. ACCESSION M60255 KEYWORDS cerebrosidase sulfatide activator protein. SOURCE Human 7-year old skin fibroblast, cDNA to mRNA. ORGANISM Homo sapiens Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia; Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae. REFERENCE 1 (bases 1 to 2726) AUTHORS Holtschmidt,H., Sandhoff,K., Kwon,H.Y., Harzer,K., Nakano,T. and Suzuki,K. TITLE Sulfatide activator protein: Alternative splicing that generates three mRNAs and a newly found mutaton responsible for a clinical disease JOURNAL J. Biol. Chem. 266, 7556-7560 (1991) STANDARD full staff_entry FEATURES Location/Qualifiers CDS 1..1584 /product="cerebrosidase sulfatide activator protein" /gene="SAP-MU-9" /codon_start=1 mutation 722..722 /note="c in mutant; g in wt (Cys->Ser) causing sulfatide activator deficiency" /gene="SAP-MU-9" misc_feature 778..786 /note="9 bp insertion" /gene="SAP-MU-9" allele 1388..1388 /note="c in some individuals, t in others." /gene="SAP-MU-9" BASE COUNT 587 a 693 c 780 g 666 t ORIGIN Chromosome 10q21-22. 1 atgtacgccc tcttcctcct ggccagcctc ctgggcgcgg ctctagccgg cccggtcctt 61 ggactgaaag aatgcaccag gggctcggca gtgtggtgcc agaatgtgaa gacggcgtcc 121 gactgcgggg cagtgaagca ctgcctgcag accgtttgga acaagccaac agtgaaatcc 181 cttccctgcg acatatgcaa agacgttgtc accgcagctg gtgatatgct gaaggacaat 241 gccactgagg aggagatcct tgtttacttg gagaagacct gtgactggct tccgaaaccg 301 aacatgtctg cttcatgcaa ggagatagtg gactcctacc tccctgtcat cctggacatc 361 attaaaggag aaatgagccg tcctggggag gtgtgctctg ctctcaacct ctgcgagtct 421 ctccagaagc acctagcaga gctgaatcac cagaagcagc tggagtccaa taagatccca 481 gagctggaca tgactgaggt ggtggccccc ttcatggcca acatccctct cctcctctac 541 cctcaggacg gcccccgcag caagccccag ccaaaggata atggggacgt ttgccaggac 601 tgcattcaga tggtgactga catccagact gctgtacgga ccaactccac ctttgtccag 661 gccttggtgg aacatgtcaa ggaggagtgt gaccgcctgg gccctggcat ggccgacata 721 tccaagaact atatcagcca gtattctgaa attgctatcc agatgatgat gcacatgcag 781 gatcagcaac ccaaggagat ctgtgcgctg gttgggttct gtgatgaggt gaaagagatg 841 cccatgcaga ctctggtccc cgccaaagtg gcctccaaga atgtcatccc tgccctggaa 901 ctggtggagc ccattaagaa gcacgaggtc ccagcaaagt ctgatgttta ctgtgaggtg 961 tgtgaattcc tggtgaagga ggtgaccaag ctgattgaca acaacaagac tgagaaagaa 1021 atactcgacg cttttgacaa aatgtgctcg aagctgccga agtccctgtc ggaagagtgc 1081 caggaggtgg tggacacgta cggcagctcc atcctgtcca tcctgctgga ggaggtcagc 1141 cctgagctgg tgtgcagcat gctgcacctc tgctctggca cgcggctgcc tgcactgacc 1201 gttcacgtga ctcagccaaa ggacggtggc ttctgcgaag tgtgcaagaa gctggtgggt 1261 tatttggatc gcaacctgga gaaaaacagc accaagcagg agatcctggc tgctcttgag 1321 aaaggctgca gcttcctgcc agacccttac cagaagcagt gtgatcagtt tgtggcagag 1381 tacgagcctg tgctgatcga gatcctggtg gaggtgatgg atccttcctt cgtgtgcttg 1441 aaaattggag cctgcccctc ggcccataag cccttgttgg gaactgagaa gtgtatatgg 1501 ggcccaagct actggtgcca gaacacagag acagcagccc agtgcaatgc tgtcgagcat 1561 tgcaaacgcc atgtgtggaa ctaggaggag gaatattcca tcttggcaga aaccacagca 1621 ttggtttttt tctacttgtg tgtctggggg aatgaacgca cagatctgtt tgactttgtt 1681 ataaaaatag ggctccccca cctcccccat ttctgtgtcc tttattgtag cattgctgtc 1741 tgcaagggag cccctagccc ctggcagaca tagctgcttc agtgcccctt ttctctctgc 1801 tagatggatg ttgatgcact ggaggtcttt tagcctgccc ttgcatggcg cctgctggag 1861 gaggagagag ctctgctggc atgagccaca gtttcttgac tggaggccat caaccctctt 1921 ggttgaggcc ttgttctgag ccctgacatg tgcttgggca ctggtgggcc tgggcttctg 1981 aggtggcctc ctgccctgat cagggaccct ccccgctttc ctgggcctct cagttgaaca 2041 aagcagcaaa acaaaggcag ttttatatga aagattagaa gcctggaata atcaggcttt 2101 ttaaatgatg taattcccac tgtaatagca tagggatttt ggaagcagct gctggtggct 2161 tgggacatca gtggggccaa gggttctctg tccctggttc aactgtgatt tggctttccc 2221 gtgtctttcc tggtgatgcc ttgtttgggg ttctgtgggt ttgggtggga agagggccat 2281 ctgcctgaat gtaacctgct agctctccga aggccctgcg ggcctggctt gtgtgagcgt 2341 gtggacagtg gtggccgcgc tgtgcctgct cgtgttgcct acatgtccct ggctgttgag 2401 gcgctgcttc agcctgcacc cctcccttgt ctcatagatg ctccttttga ccttttcaaa 2461 taaatatgga tggcgagctc ctaggcctct ggcttcctgg tagagggcgg catgccgaag 2521 ggtctgctgg gtgtggattg gatgctgggg tgtgggggtt ggaagctgtc tgtggcccac 2581 ttgggcaccc acgcttctgt ccacttctgg ttgccaggag acagcaagca aagccagcag 2641 gacatgaagt tgctattaaa tggacttcgt gatttttgtt ttgcactaaa gtttctgtga 2701 tttaacaata aaattctgtt agccag //