GenBank-Updates@genbank.bio.net (05/11/91)
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
//GenBank-Updates@genbank.bio.net (05/11/91)
LOCUS HUMSAPC1 2717 bp ss-mRNA PRI 11-MAY-1991
DEFINITION Human mutant cerebrosidase sulfatide activator protein (SAP-MU-0)
mRNA, complete cds, without the 9 bp insertion found in
alternatively spliced mRNA.
ACCESSION M60257
KEYWORDS cerebrosidase sulfatide activator protein.
SOURCE Huma 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 2717)
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..1575
/product="cerebrosidase sulfatide activator protein"
/gene="SAP-MU-0"
/codon_start=1
mutation 722..722
/note="c in mutant, g in wt (Cys->Ser) causing sulfatide
activator protein deficiency"
/gene="SAP-MU-0"
allele 1380..1380
/note="t in this sequence, c in others"
/gene="SAP-MU-0"
BASE COUNT 584 a 691 c 777 g 665 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 gcacatgcaa
781 cccaaggaga tctgtgcgct ggttgggttc tgtgatgagg tgaaagagat gcccatgcag
841 actctggtcc ccgccaaagt ggcctccaag aatgtcatcc ctgccctgga actggtggag
901 cccattaaga agcacgaggt cccagcaaag tctgatgttt actgtgaggt gtgtgaattc
961 ctggtgaagg aggtgaccaa gctgattgac aacaacaaga ctgagaaaga aatactcgac
1021 gcttttgaca aaatgtgctc gaagctgccg aagtccctgt cggaagagtg ccaggaggtg
1081 gtggacacgt acggcagctc catcctgtcc atcctgctgg aggaggtcag ccctgagctg
1141 gtgtgcagca tgctgcacct ctgctctggc acgcggctgc ctgcactgac cgttcacgtg
1201 actcagccaa aggacggtgg cttctgcgaa gtgtgcaaga agctggtggg ttatttggat
1261 cgcaacctgg agaaaaacag caccaagcag gagatcctgg ctgctcttga gaaaggctgc
1321 agcttcctgc cagaccctta ccagaagcag tgtgatcagt ttgtggcaga gtacgagcct
1381 gtgctgatcg agatcctggt ggaggtgatg gatccttcct tcgtgtgctt gaaaattgga
1441 gcctgcccct cggcccataa gcccttgttg ggaactgaga agtgtatatg gggcccaagc
1501 tactggtgcc agaacacaga gacagcagcc cagtgcaatg ctgtcgagca ttgcaaacgc
1561 catgtgtgga actaggagga ggaatattcc atcttggcag aaaccacagc attggttttt
1621 ttctacttgt gtgtctgggg gaatgaacgc acagatctgt ttgactttgt tataaaaata
1681 gggctccccc acctccccca tttctgtgtc ctttattgta gcattgctgt ctgcaaggga
1741 gcccctagcc cctggcagac atagctgctt cagtgcccct tttctctctg ctagatggat
1801 gttgatgcac tggaggtctt ttagcctgcc cttgcatggc gcctgctgga ggaggagaga
1861 gctctgctgg catgagccac agtttcttga ctggaggcca tcaaccctct tggttgaggc
1921 cttgttctga gccctgacat gtgcttgggc actggtgggc ctgggcttct gaggtggcct
1981 cctgccctga tcagggaccc tccccgcttt cctgggcctc tcagttgaac aaagcagcaa
2041 aacaaaggca gttttatatg aaagattaga agcctggaat aatcaggctt tttaaatgat
2101 gtaattccca ctgtaatagc atagggattt tggaagcagc tgctggtggc ttgggacatc
2161 agtggggcca agggttctct gtccctggtt caactgtgat ttggctttcc cgtgtctttc
2221 ctggtgatgc cttgtttggg gttctgtggg tttgggtggg aagagggcca tctgcctgaa
2281 tgtaacctgc tagctctccg aaggccctgc gggcctggct tgtgtgagcg tgtggacagt
2341 ggtggccgcg ctgtgcctgc tcgtgttgcc tacatgtccc tggctgttga ggcgctgctt
2401 cagcctgcac ccctcccttg tctcatagat gctccttttg accttttcaa ataaatatgg
2461 atggcgagct cctaggcctc tggcttcctg gtagagggcg gcatgccgaa gggtctgctg
2521 ggtgtggatt ggatgctggg gtgtgggggt tggaagctgt ctgtggccca cttgggcacc
2581 cacgcttctg tccacttctg gttgccagga gacagcaagc aaagccagca ggacatgaag
2641 ttgctattaa atggacttcg tgatttttgt tttgcactaa agtttctgtg atttaacaat
2701 aaaattctgt tagccag
//GenBank-Updates@genbank.bio.net (05/11/91)
LOCUS HUMSAPE1 704 bp ds-DNA PRI 11-MAY-1991
DEFINITION Human mutant cerebrosidase sulfatide activator protein (SAP-MU)
gene, exon with mutation.
ACCESSION M60259
KEYWORDS cerebrosidase sulfatide activator protein.
SOURCE Human 7-year old skin fibroblast DNA.
ORGANISM Homo sapiens
Eukaryota; Animalia; Metazoa; Chordata; Vertebrata; Mammalia;
Theria; Eutheria; Primates; Haplorhini; Catarrhini; Hominidae.
REFERENCE 1 (bases 1 to 704)
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
intron 1..249
/gene="SAP-MU"
/partial
exon 258..314
/note="exon with mutation"
/gene="SAP-MU"
mutation 259..259
/note="c in mutant, g in wt (Cys->Ser) causing sulfatide
activator deficiency"
/gene="SAP-MU"
intron 315..704
/gene="SAP-MU"
/partial
BASE COUNT 157 a 152 c 163 g 232 t
ORIGIN Chromosome 10q21-22.
1 gggtggaatc tttaaggtcc cttaagaaac ttttcaaaac gtcttttgca cacatttcct
61 ataaatgata gagtaaccaa attgtcattt tcatcttatt aaagctggcc cagagcagac
121 attcataaaa ttctacttta gaaacttgct tgatagtcac cagttgacac tgttggaaat
181 gctggggggt ttttgttggt tgggttttgg tgcattgttg cagtgatttg tttagcaatc
241 tgtttctctc tcctcagtgc aagaactata tcagccagta ttctgaaatt gctatccaga
301 tgatgatgca catggtaggt ggcacggagg ccccttgtta gcatttttct ttgtttttca
361 ggtttcgtca tttctaggaa ttttgaaaat tatatggttt agtttccctt ttttacctta
421 gagtgctgaa ttgggctaaa tcgacccctc tggctaggag actctccact tgcaatctca
481 gtacctcccc tgttacggga gaggcaggct gaagcatctt gatcccagga ctgccctggt
541 ggcttcctgg caatttgttt gcctctgccc gttcaggcca gccatcaggt ttctaggtct
601 ggctttaacc ctgggatctg tagaagtcaa gtgctctcta actaagccag gcctgagaat
661 ggctgtgttg ccacctgagt cgggggaata ctgcctcccg gagt
//GenBank-Updates@genbank.bio.net (05/11/91)
LOCUS HUMSAPD1 2723 bp ss-mRNA PRI 11-MAY-1991
DEFINITION Human mutant cerebrosidase sulfatide activator protein (SAP-MU-6)
mRNA, complete cds and with a 6 bp insertion.
ACCESSION M60258
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 2723)
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..1581
/product="cerebrosidase sulfatide activator protein"
/gene="SAP-MU-6"
/codon_start=1
mutation 722..722
/note="c in mutant, g in wt (Cys->Ser) causing sulfatide
activator deficiency"
/gene="SAP-MU-6"
misc_feature 778..783
/note="6 bp insertion"
/gene="SAP-MU-6"
allele 1386..1386
/note="c in this sequence, t in others"
/gene="SAP-MU-6"
BASE COUNT 586 a 692 c 779 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 gcacatggat
781 cagcaaccca aggagatctg tgcgctggtt gggttctgtg atgaggtgaa agagatgccc
841 atgcagactc tggtccccgc caaagtggcc tccaagaatg tcatccctgc cctggaactg
901 gtggagccca ttaagaagca cgaggtccca gcaaagtctg atgtttactg tgaggtgtgt
961 gaattcctgg tgaaggaggt gaccaagctg attgacaaca acaagactga gaaagaaata
1021 ctcgacgctt ttgacaaaat gtgctcgaag ctgccgaagt ccctgtcgga agagtgccag
1081 gaggtggtgg acacgtacgg cagctccatc ctgtccatcc tgctggagga ggtcagccct
1141 gagctggtgt gcagcatgct gcacctctgc tctggcacgc ggctgcctgc actgaccgtt
1201 cacgtgactc agccaaagga cggtggcttc tgcgaagtgt gcaagaagct ggtgggttat
1261 ttggatcgca acctggagaa aaacagcacc aagcaggaga tcctggctgc tcttgagaaa
1321 ggctgcagct tcctgccaga cccttaccag aagcagtgtg atcagtttgt ggcagagtac
1381 gagcctgtgc tgatcgagat cctggtggag gtgatggatc cttccttcgt gtgcttgaaa
1441 attggagcct gcccctcggc ccataagccc ttgttgggaa ctgagaagtg tatatggggc
1501 ccaagctact ggtgccagaa cacagagaca gcagcccagt gcaatgctgt cgagcattgc
1561 aaacgccatg tgtggaacta ggaggaggaa tattccatct tggcagaaac cacagcattg
1621 gtttttttct acttgtgtgt ctgggggaat gaacgcacag atctgtttga ctttgttata
1681 aaaatagggc tcccccacct cccccatttc tgtgtccttt attgtagcat tgctgtctgc
1741 aagggagccc ctagcccctg gcagacatag ctgcttcagt gccccttttc tctctgctag
1801 atggatgttg atgcactgga ggtcttttag cctgcccttg catggcgcct gctggaggag
1861 gagagagctc tgctggcatg agccacagtt tcttgactgg aggccatcaa ccctcttggt
1921 tgaggccttg ttctgagccc tgacatgtgc ttgggcactg gtgggcctgg gcttctgagg
1981 tggcctcctg ccctgatcag ggaccctccc cgctttcctg ggcctctcag ttgaacaaag
2041 cagcaaaaca aaggcagttt tatatgaaag attagaagcc tggaataatc aggcttttta
2101 aatgatgtaa ttcccactgt aatagcatag ggattttgga agcagctgct ggtggcttgg
2161 gacatcagtg gggccaaggg ttctctgtcc ctggttcaac tgtgatttgg ctttcccgtg
2221 tctttcctgg tgatgccttg tttggggttc tgtgggtttg ggtgggaaga gggccatctg
2281 cctgaatgta acctgctagc tctccgaagg ccctgcgggc ctggcttgtg tgagcgtgtg
2341 gacagtggtg gccgcgctgt gcctgctcgt gttgcctaca tgtccctggc tgttgaggcg
2401 ctgcttcagc ctgcacccct cccttgtctc atagatgctc cttttgacct tttcaaataa
2461 atatggatgg cgagctccta ggcctctggc ttcctggtag agggcggcat gccgaagggt
2521 ctgctgggtg tggattggat gctggggtgt gggggttgga agctgtctgt ggcccacttg
2581 ggcacccacg cttctgtcca cttctggttg ccaggagaca gcaagcaaag ccagcaggac
2641 atgaagttgc tattaaatgg acttcgtgat ttttgttttg cactaaagtt tctgtgattt
2701 aacaataaaa ttctgttagc cag
//