LOCUS HUMSAPD1 2723 bp mRNA linear HUM 27-JAN-2017
DEFINITION Human mutant cerebroside sulfate activator protein (SAP-MU-6) mRNA,
complete cds and with a 6 bp insertion.
ACCESSION M60258
VERSION M60258.1
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 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 mutation responsible for a clinical
disease
JOURNAL J. Biol. Chem. 266 (12), 7556-7560 (1991)
PUBMED 2019586
FEATURES Location/Qualifiers
source 1..2723
/db_xref="H-InvDB:HIT000195924"
/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..2723
/gene="SAP-MU-6"
CDS 1..1581
/gene="SAP-MU-6"
/codon_start=1
/product="cerebroside sulfate activator protein"
/protein_id="AAA36596.1"
/translation="MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGA
VKHCLQTVWNKPTVKSLPCDICKDVVTAAGDMLKDNATEEEILVYLEKTCDWLPKPNM
SASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNHQKQLESNKIP
ELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQDCIQMVTDIQTAVRTNSTF
VQALVEHVKEECDRLGPGMADISKNYISQYSEIAIQMMMHMDQQPKEICALVGFCDEV
KEMPMQTLVPAKVASKNVIPALELVEPIKKHEVPAKSDVYCEVCEFLVKEVTKLIDNN
KTEKEILDAFDKMCSKLPKSLSEECQEVVDTYGSSILSILLEEVSPELVCSMLHLCSG
TRLPALTVHVTQPKDGGFCEVCKKLVGYLDRNLEKNSTKQEILAALEKGCSFLPDPYQ
KQCDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLLGTEKCIWGPSYWCQNT
ETAAQCNAVEHCKRHVWN"
variation 722
/gene="SAP-MU-6"
/note="c in mutant, g in wt (Cys->Ser) causing sulfatide
activator deficiency"
misc_feature 778..783
/gene="SAP-MU-6"
/note="6 bp insertion"
variation 1386
/gene="SAP-MU-6"
/note="c in this sequence, t in others"
BASE COUNT 586 a 692 c 779 g 666 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 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
//