LOCUS HUMSAP 2724 bp mRNA linear HUM 31-JUL-1995 DEFINITION Homo sapiens sphingolipid activator protein 1 mRNA, 3' end. ACCESSION J03015 J03086 VERSION J03015.1 KEYWORDS PSAP gene; glucosidase; saposin; sphingolipid activator protein; sulfatide activator. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 45 to 1618) AUTHORS Dewji,N.N., Wenger,D.A. and O'Brien,J.S. TITLE Nucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursor JOURNAL Proc. Natl. Acad. Sci. U.S.A. 84 (23), 8652-8656 (1987) PUBMED 2825202 REFERENCE 2 (bases 45 to 1618) AUTHORS O'Brien,J.S., Kretz,K.A., Dewji,N., Wenger,D.A., Esch,F. and Fluharty,A.L. JOURNAL Unpublished REFERENCE 3 (sites) AUTHORS O'Brien,J.S., Kretz,K.A., Dewji,N., Wenger,D.A., Esch,F. and Fluharty,A.L. TITLE Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus JOURNAL Science 241 (4869), 1098-1101 (1988) PUBMED 2842863 REFERENCE 4 (bases 1 to 2724) AUTHORS Nakano,T., Sandhoff,K., Stumper,J., Christomanou,H. and Suzuki,K. TITLE Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator JOURNAL J. Biochem. 105 (2), 152-154 (1989) PUBMED 2498298 COMMENT Original source text: Homo sapiens (clone: lambda-S-[1.2,1.3]) (clone library: Clontech) lung and skin cDNA to mRNA. [3] sites; description of features. [2] revises [1]. Draft entry and computer-readable sequence for [2],[4] kindly provided by K.A.Kretz, 09-AUG-1988. Complete source information: Human hepatoma, cDNA to mRNA, clones lambda-S-[1.2,1.3] [1],[3],[2]; lungfibroblast cell line HL1011B (library of Clontech, and skin fibroblast (from Sandhoff disease patient), cDNA to mRNA [4]. FEATURES Location/Qualifiers source 1..2724 /db_xref="H-InvDB:HIT000191119" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /map="10q21-q22" /clone="lambda-S-[1.2,1.3]" /cell_line="HL1011B" /cell_type="fibroblast" /tissue_type="lung and skin" /clone_lib="Clontech" gene 1..2724 /gene="PSAP" mRNA <1..2724 /gene="PSAP" /note="G00-120-366" CDS 7..1581 /gene="PSAP" /codon_start=1 /product="sphingolipid activator precursor" /protein_id="AAB59494.1" /db_xref="GDB:G00-120-366" /translation="MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGA VKHCLQTVWNKPTVKSLPCDICKDVVTAAGDMLKDNATEEEILVYLEKTCDWLPKPNM SASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNHQKQLESNKIP ELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQDCIQMVTDIQTAVRTNSTF VQALVEHVKEECDRLGPGMADICKNYISQYSEIAIQMMMHMQPKEICALVGFCDEVKE MPMQTLVPAKVASKNVIPALELVEPIKKHEVPAKSDVYCEVCEFLVKEVTKLIDNNKT EKEILDAFDKMCSKLPKSLSEECQEVVDTYGSSILSILLEEVSPELVCSMLHLCSGTR LPALTVHVTQPKDGGFCEVCKKLVGYLDRNLEKNSTKQEILAALEKGCSFLPDPYQKQ CDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLLGTEKCIWGPSYWCQNTET AAQCNAVEHCKRHVWN" sig_peptide 7..75 /gene="PSAP" /note="G00-120-366" /citation=[2] mat_peptide 184..435 /gene="PSAP" /product="sphingolipid activator-like protein A" /note="G00-120-366" mat_peptide 589..831 /gene="PSAP" /product="sphingolipid activator protein B" mat_peptide 937..1176 /gene="PSAP" /product="sphingolipid activator protein C" mat_peptide 1219..1467 /gene="PSAP" /product="sphingolipid activator-like protein D" /citation=[2] variation 783..784 /gene="PSAP" /citation=[4] /replace="gcaggatcagc" BASE COUNT 585 a 696 c 776 g 667 t ORIGIN 80 bp upstream of AcyI site; chromosome 10q21-q22. 1 cgcgctatgt acgccctctt cctcctggcc agcctcctgg gcgcggctct agccggcccg 61 gtccttggac tgaaagaatg caccaggggc tcggcagtgt ggtgccagaa tgtgaagacg 121 gcgtccgact gcggggcagt gaagcactgc ctgcagaccg tttggaacaa gccaacagtg 181 aaatcccttc cctgcgacat atgcaaagac gttgtcaccg cagctggtga tatgctgaag 241 gacaatgcca ctgaggagga gatccttgtt tacttggaga agacctgtga ctggcttccg 301 aaaccgaaca tgtctgcttc atgcaaggag atagtggact cctacctccc tgtcatcctg 361 gacatcatta aaggagaaat gagccgtcct ggggaggtgt gctctgctct caacctctgc 421 gagtctctcc agaagcacct agcagagctg aatcaccaga agcagctgga gtccaataag 481 atcccagagc tggacatgac tgaggtggtg gcccccttca tggccaacat ccctctcctc 541 ctctaccctc aggacggccc ccgcagcaag ccccagccaa aggataatgg ggacgtttgc 601 caggactgca ttcagatggt gactgacatc cagactgctg tacggaccaa ctccaccttt 661 gtccaggcct tggtggaaca tgtcaaggag gagtgtgacc gcctgggccc tggcatggcc 721 gacatatgca agaactatat cagccagtat tctgaaattg ctatccagat gatgatgcac 781 atgcaaccca 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 gagcccgtgc 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 ttgaaccaaa 2041 gcagcaaaac aaaggcagtt ttatatgaaa gattagaagc ctggaataat caggcttttt 2101 aaatgatgta attcccactg taatagcata gggattttgg aagcagctgc tggtggcttg 2161 ggacatcagt ggggccaagg gttctctgtc cctggttcaa ctgtgatttg gctttcccgt 2221 gtctttcctg gtgatgcctt gtttggggtt ctgtgggttt gggtgggaag agggcccatc 2281 tgcctgaatg taacctgcta gctctccgaa gccctgcggg cctggcttgt gtgagcgtgt 2341 ggacagtggt ggccgcgctg tgcctgctcg tgttgcctac atgtccctgg ctgttgaggc 2401 gctgcttcag cctgcacccc tccctttgtc tcatagatgc tccttttgac cttttcaaat 2461 aaatatggat ggcaagctcc taggcctctg cttcctggta gagggcggca tgccgaaggg 2521 tctgctgggt gtggattgga tgctggggtg tgggggttgg aagctgtctg tggcccactt 2581 gggcacccac gcttctgtcc acttctggtt gccaggagac agcaagcaaa gccagcagga 2641 catgaagttg ctattaaatt gacttcgtga tttttgtttt gcactaaagt ttctgtgatt 2701 taacaataaa attctgttag ccag //