LOCUS HUMSPHINO 2734 bp mRNA linear HUM 13-JAN-1995
DEFINITION Homo sapiens sphingolipid activator proteins 1 and 2 processed
mutant mRNA, complete cds.
ACCESSION M81355
VERSION M81355.1
KEYWORDS mutant; sphingolipid activator protein.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2734)
AUTHORS Schnabel,D., Schroeder,M., Fuerst,W., Klein,A., Hurwitz,R.L.,
Zenk,T., Weber,J., Harzer,K., Paton,B., Poulos,A., Suzuki,K. and
Sandhoff,K.
TITLE Simultaneous deficiency of sphingolipid activator proteins 1 and 2
is caused by a mutation in the initiation codon of their common
gene
JOURNAL J. Biol. Chem. 267 (5), 3312-3315 (1992)
PUBMED 1371116
COMMENT Original source text: Homo sapiens male infant skin cDNA to mRNA.
FEATURES Location/Qualifiers
source 1..2734
/db_xref="H-InvDB:HIT000196467"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/sex="male"
/cell_type="fibroblast"
/tissue_type="skin"
/dev_stage="infant"
gene 1..2734
/gene="sphingolipid activator protein"
misc_feature 9..1592
/gene="sphingolipid activator protein"
/note="putative CDS; putative"
/phenotype="mutant: start codon atg->ttg resulting in no
synthesis of the coding region"
variation 9
/gene="sphingolipid activator protein"
/note="replace 9; a"
BASE COUNT 586 a 697 c 784 g 667 t
ORIGIN
1 ccggcgcttt 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 aggcctctgg 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
//