LOCUS AF249319 2004 bp mRNA linear HUM 22-SEP-2000
DEFINITION Homo sapiens mucolipidosis type IV protein (MLIV) mRNA, complete
cds.
ACCESSION AF249319
VERSION AF249319.1
KEYWORDS .
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 2004)
AUTHORS Bargal,R., Avidan,N., Ben-Asher,E., Olender,Z., Zeigler,M.,
Frumkin,A., Raas-Rothschild,A., Glusman,G., Lancet,D. and Bach,G.
TITLE Identification of the gene causing mucolipidosis type IV
JOURNAL Nat. Genet. 26 (1), 118-123 (2000)
PUBMED 10973263
REFERENCE 2 (bases 1 to 2004)
AUTHORS Bargal,R., Avidan,N., Ben-Asher,E., Olender,Z., Zeigler,M.,
Frumkin,A., Raas-Rothschild,A., Glusman,G., Lancet,D. and Bach,G.
TITLE Direct Submission
JOURNAL Submitted (26-MAR-2000) Molecular Genetics, The Weizmann Institute
of Science, P. O. Box 26, Rehovot 76100, Israel
FEATURES Location/Qualifiers
source 1..2004
/db_xref="H-InvDB:HIT000074996"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
gene 1..2004
/gene="MLIV"
CDS 85..1827
/gene="MLIV"
/note="causes mucolipidosis type IV"
/codon_start=1
/product="mucolipidosis type IV protein"
/protein_id="AAG10422.1"
/translation="MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRR
LKYFFMSPCDKFRAKGRKPCKLMLQVVKILVVTVQLILFGLSNQLAVTFREENTIAFR
HLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNG
SGLALCQRYYHRGHVDPANDTFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSY
KNLTLKFHKLVNVTIHFRLKTINLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLE
TQAHIQECKHPSVFQHGDNSFRLLFDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFM
WRQRGRVISLWERLEFVNGWYILLVTSDVLTISGTIMKIGIEAKNLASYDVCSILLGT
STLLVWVGVIRYLTFFHNYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLGPY
HVKFRSLSMVSECLFSLINGDDMFVTFAAMQAQQGRSSLVWLFSQLYLYSFISLFIYM
VLSLFIALITGAYDTIKHPGGAGAEESELQAYIAQCQDSPTSGKFRRGSGSACSLLCC
CGRDPSEEHSLLVN"
BASE COUNT 352 a 665 c 568 g 419 t
ORIGIN
1 gagcgaggtc gcagtgacag cggcgggcga tcggacccag gctgccccgc cgtacccgcc
61 tgcgtcccgc gctcccgccc cagcatgaca gccccggcgg gtccgcgcgg ctcagagacc
121 gagcggcttc tgacccccaa ccccgggtat gggacccagg cggggccttc accggcccct
181 ccgacacccc cagaagagga agaccttcgc cgtcgtctca aatacttttt catgagtccc
241 tgcgacaagt ttcgagccaa gggccgcaag ccctgcaagc tgatgctgca agtggtcaag
301 atcctggtgg tcacggtgca gctcatcctg tttgggctca gtaatcagct ggctgtgaca
361 ttccgggaag agaacaccat cgccttccga cacctcttcc tgctgggcta ctcggacgga
421 gcggatgaca ccttcgcagc ctacacgcgg gagcagctgt accaggccat cttccatgct
481 gtggaccagt acctggcgtt gcctgacgtg tcactgggcc ggtatgcgta tgtccgtggt
541 gggggtgacc cttggaccaa tggctcaggg cttgctctct gccagcggta ctaccaccga
601 ggccacgtgg acccggccaa cgacacattt gacattgatc cgatggtggt tactgactgc
661 atccaggtgg atccccccga gcggccccct ccgcccccca gcgacgatct caccctcttg
721 gaaagcagct ccagttacaa gaacctcacg ctcaaattcc acaagctggt caatgtcacc
781 atccacttcc ggctgaagac cattaacctc cagagcctca tcaataatga gatcccggac
841 tgctatacct tcagcgtcct gatcacgttt gacaacaaag cacacagtgg gcggatcccc
901 atcagcctgg agacccaggc ccacatccag gagtgtaagc accccagtgt cttccagcac
961 ggagacaaca gcttccggct cctgtttgac gtggtggtca tcctcacctg ctccctgtcc
1021 ttcctcctct gcgcccgctc actccttcga ggcttcctgc tgcagaacga gtttgtgggg
1081 ttcatgtggc ggcagcgggg acgggtcatc agcctgtggg agcggctgga atttgtcaat
1141 ggctggtaca tcctgctcgt caccagcgat gtgctcacca tctcgggcac catcatgaag
1201 atcggcatcg aggccaagaa cttggcgagc tacgacgtct gcagcatcct cctgggcacc
1261 tcgacgctgc tggtgtgggt gggcgtgatc cgctacctga ccttcttcca caactacaat
1321 atcctcatcg ccacactgcg ggtggccctg cccagcgtca tgcgcttctg ctgctgcgtg
1381 gctgtcatct acctgggcta ctgcttctgt ggctggatcg tgctggggcc ctatcatgtg
1441 aagttccgct cactctccat ggtgtctgag tgcctgttct cgctcatcaa tggggacgac
1501 atgtttgtga cgttcgccgc catgcaggcg cagcagggcc gcagcagcct ggtgtggctc
1561 ttctcccagc tctaccttta ctccttcatc agcctcttca tctacatggt gctcagcctc
1621 ttcatcgcgc tcatcaccgg cgcctacgac accatcaagc atcccggcgg cgcaggcgca
1681 gaggagagcg agctgcaggc ctacatcgca cagtgccagg acagccccac ctccggcaag
1741 ttccgccgcg ggagcggctc ggcctgcagc cttctctgct gctgcggaag ggacccctcg
1801 gaggagcatt cgctgctggt gaattgattc gacctgactg ccgttggacc gtaggccctg
1861 gactgcagag acccccgccc ccgaccccgc ttatttattt gtagggtttg cttttaagga
1921 tcggctccct gtcgcgcccg aggagggcct ggacctttcg tgtcggaccc ttgggggcgg
1981 ggagactggg tggggagggt gttg
//