LOCUS HUMSAPC1 2717 bp mRNA linear HUM 27-JAN-2017
DEFINITION Human mutant cerebroside sulfate activator protein (SAP-MU-0) mRNA,
complete cds, without the 9 bp insertion found in alternatively
spliced mRNA.
ACCESSION M60257
VERSION M60257.1
KEYWORDS cerebroside sulfate 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 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 mutation responsible for a clinical
disease
JOURNAL J. Biol. Chem. 266 (12), 7556-7560 (1991)
PUBMED 2019586
FEATURES Location/Qualifiers
source 1..2717
/db_xref="H-InvDB:HIT000195923"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/map="10q21-22"
/cell_type="fibroblast"
/tissue_type="skin"
/dev_stage="7-year old"
gene 1..2717
/gene="SAP-MU-0"
CDS 1..1575
/gene="SAP-MU-0"
/codon_start=1
/product="cerebroside sulfate activator protein"
/protein_id="AAA36595.1"
/translation="MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGA
VKHCLQTVWNKPTVKSLPCDICKDVVTAAGDMLKDNATEEEILVYLEKTCDWLPKPNM
SASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNHQKQLESNKIP
ELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQDCIQMVTDIQTAVRTNSTF
VQALVEHVKEECDRLGPGMADISKNYISQYSEIAIQMMMHMQPKEICALVGFCDEVKE
MPMQTLVPAKVASKNVIPALELVEPIKKHEVPAKSDVYCEVCEFLVKEVTKLIDNNKT
EKEILDAFDKMCSKLPKSLSEECQEVVDTYGSSILSILLEEVSPELVCSMLHLCSGTR
LPALTVHVTQPKDGGFCEVCKKLVGYLDRNLEKNSTKQEILAALEKGCSFLPDPYQKQ
CDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLLGTEKCIWGPSYWCQNTET
AAQCNAVEHCKRHVWN"
variation 722
/gene="SAP-MU-0"
/note="c in mutant, g in wt (Cys->Ser) causing sulfatide
activator protein deficiency"
variation 1380
/gene="SAP-MU-0"
/note="t in this sequence, c in others"
BASE COUNT 584 a 691 c 777 g 665 t
ORIGIN
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
//