LOCUS HUMSA 2734 bp mRNA linear HUM 29-MAY-2002 DEFINITION Homo sapiens mRNA for sphingolipid activator proteins, complete cds. ACCESSION D00422 VERSION D00422.1 KEYWORDS co-beta-glucosidase; component C; polypeptide; 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 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, 152-154 (1989) COMMENT The N- and C-termini of sulfatide activator, co-beta-glucosidase and of component C are determined as they are found by protein sequencing. FEATURES Location/Qualifiers source 1..2734 /db_xref="H-InvDB:HIT000100400" /db_xref="taxon:9606" /mol_type="mRNA" /note="30 bp upstream of HaeIII site." /note="Two cDNA libraries in lambda-gt11; one from human lug fibroblasts (HL1011b, Clontech Labs., Palo Alto, Calif.) and another from skin fibroblasts of a patient with juvenile from of Sandhoff disease" /organism="Homo sapiens" mRNA <1..2734 /note="polyprotein mRNA" CDS 9..1592 /codon_start=1 /note="polyprotein precursor" /product="sphingolipid activator proteins" /protein_id="BAA00321.1" /translation="MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGA VKHCLQTVWNKPTVKSLPCDICKDVVTAAGDMLKDNATEEEILVYLEKTCDWLPKPNM SASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNHQKQLESNKIP ELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQDCIQMVTDIQTAVRTNSTF VQALVEHVKEECDRLGPGMADICKNYISQYSEIAIQMMMHMQDQQPKEICALVGFCDE VKEMPMQTLVPAKVASKNVIPALELVEPIKKHEVPAKSDVYCEVCEFLVKEVTKLIDN NKTEKEILDAFDKMCSKLPKSLSEECQEVVDTYGSSILSILLEEVSPELVCSMLHLCS GTRLPALTVHVTQPKDGGFCEVCKKLVGYLDRNLEKNSTKQEILAALEKGCSFLPDPY QKQCDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLLGTEKCIWGPSYWCQN TETAAQCNAVEHCKRHVWN" mat_peptide 186..437 /note="the fourth sphingolipid activator protein (putative)" mat_peptide 591..839 /note="sulfatide activator" variation 786..794 /note="deletion in alternative form of sulfatide activator protein" mat_peptide 948..1187 /note="co-beta-glucosidase" mat_peptide 1236..1469 /note="component C" regulatory 2467..2472 /regulatory_class="polyA_signal_sequence" regulatory 2715..2720 /regulatory_class="polyA_signal_sequence" BASE COUNT 587 a 697 c 785 g 665 t ORIGIN 1 ccggcgctat gtacgccctc ttcctcctgg ccagcctcct gggcgcggct ctagccggcc 61 cggtccttgg actgaaagaa tgcaccaggg gctcggcagt gtggtgccag aatgtgaaga 121 cggcgtccga ctgcggggca gtgaagcact gcctgcagac cgtttggaac aagccaacag 181 tgaaatccct tccctgcgac atatgcaaag acgttgtcac cgcagctggt gatatgctga 241 aggacaatgc cactgaggag gagatccttg tttacttgga gaagacctgt gactggcttc 301 cgaaaccgaa catgtctgct tcatgcaagg agatagtgga ctcctacctc cctgtcatcc 361 tggacatcat taaaggagaa atgagccgtc ctggggaggt gtgctctgct ctcaacctct 421 gcgagtctct ccagaagcac ctagcagagc tgaatcacca gaagcagctg gagtccaata 481 agatcccaga gctggacatg actgaggtgg tggccccctt catggccaac atccctctcc 541 tcctctaccc tcaggacggc ccccgcagca agccccagcc aaaggataat ggggacgttt 601 gccaggactg cattcagatg gtgactgaca tccagactgc tgtacggacc aactccacct 661 ttgtccaggc cttggtggaa catgtcaagg aggagtgtga ccgcctgggc cctggcatgg 721 ccgacatatg caagaactat atcagccagt attctgaaat tgctatccag atgatgatgc 781 acatgcagga tcagcaaccc aaggagatct gtgcgctggt tgggttctgt gatgaggtga 841 aagagatgcc catgcagact ctggtccccg ccaaagtggc ctccaagaat gtcatccctg 901 ccctggaact ggtggagccc attaagaagc acgaggtccc agcaaagtct gatgtttact 961 gtgaggtgtg tgaattcctg gtgaaggagg tgaccaagct gattgacaac aacaagactg 1021 agaaagaaat actcgacgct tttgacaaaa tgtgctcgaa gctgccgaag tccctgtcgg 1081 aagagtgcca ggaggtggtg gacacgtacg gcagctccat cctgtccatc ctgctggagg 1141 aggtcagccc tgagctggtg tgcagcatgc tgcacctctg ctctggcacg cggctgcctg 1201 cactgaccgt tcacgtgact cagccaaagg acggtggctt ctgcgaagtg tgcaagaagc 1261 tggtgggtta tttggatcgc aacctggaga aaaacagcac caagcaggag atcctggctg 1321 ctcttgagaa aggctgcagc ttcctgccag acccttacca gaagcagtgt gatcagtttg 1381 tggcagagta cgagcccgtg ctgatcgaga tcctggtgga ggtgatggat ccttccttcg 1441 tgtgcttgaa aattggagcc tgcccctcgg cccataagcc cttgttggga actgagaagt 1501 gtatatgggg cccaagctac tggtgccaga acacagagac agcagcccag tgcaatgctg 1561 tcgagcattg caaacgccat gtgtggaact aggaggagga atattccatc ttggcagaaa 1621 ccacagcatt ggtttttttc tacttgtgtg tctgggggaa tgaacgcaca gatctgtttg 1681 actttgttat aaaaataggg ctcccccacc tcccccattt ctgtgtcctt tattgtagca 1741 ttgctgtctg caagggagcc cctagcccct ggcagacata gctgcttcag tgcccctttt 1801 ctctctgcta gatggatgtt gatgcactgg aggtctttta gcctgccctt gcatggcgcc 1861 tgctggagga ggagagagct ctgctggcat gagccacagt ttcttgactg gaggccatca 1921 accctcttgg ttgaggcctt gttctgagcc ctgacatgtg cttgggcact ggtgggcctg 1981 ggcttctgag gtggcctcct gccctgatca gggaccctcc ccgctttcct gggcctctca 2041 gttgaacaaa gcagcaaaac aaaggcagtt ttatatgaaa gattagaagc ctggaataat 2101 caggcttttt aaatgatgta attcccactg taatagcata gggattttgg aagcagctgc 2161 tggtggcttg ggacatcagt ggggccaagg gttctctgtc cctggttcaa ctgtgatttg 2221 gctttcccgt gtctttcctg gtgatgcctt gtttggggtt ctgtgggttt gggtgggaag 2281 agggccatct gcctgaatgt aacctgctag ctctccgaag gccctgcggg cctggcttgt 2341 gtgagcgtgt ggacagtggt ggccgcgctg tgcctgctcg tgttgcctac atgtccctgg 2401 ctgttgaggc gctgcttcag cctgcacccc tcccttgtct catagatgct ccttttgacc 2461 ttttcaaata aatatggatg gcgagctcct aggcctcggg cttcctggta gagggcggca 2521 tgccgaaggg tctgctgggt gtggattgga tgctggggtg tgggggttgg aagctgtctg 2581 tggcccactt gggcacccac gcttctgtcc acttctggtt gccaggagac agcaagcaaa 2641 gccagcagga catgaagttg ctattaaatg gacttcgtga tttttgtttt gcactaaagt 2701 ttctgtgatt taacaataaa attctgttag ccag //