LOCUS AH003579 4282 bp DNA linear HUM 01-AUG-2016 DEFINITION Homo sapiens beta-hexosaminidase alpha chain (HEXA) gene, complete cds. ACCESSION AH003579 J02704 M11572 M16411 M16412 M16413 M16414 M16415 M16416 M16417 M16418 M16419 M16420 M16421 M16422 M16423 M16424 VERSION AH003579.2 KEYWORDS beta-hexosaminidase. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 313 to 733; 855 to 947; 1069 to 1134; 1256 to 1302; 1424 to 1534; 1656 to 1757; 1879 to 2011; 2133 to 2313; 2435 to 2521; 2643 to 2715; 2837 to 3020; 3142 to 3232; 3354 to 3458; 3580 to 4282) AUTHORS Myerowitz,R., Piekarz,R., Neufeld,E.F., Shows,T.B. and Suzuki,K. TITLE Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain JOURNAL Proc. Natl. Acad. Sci. U.S.A. 82 (23), 7830-7834 (1985) PUBMED 2933746 REFERENCE 2 (bases 1 to 739; 840 to 880; 941 to 953; 1054 to 1076; 1126 to 1140; 1241 to 1263; 1294 to 1308; 1409 to 1432; 1526 to 1540; 1641 to 1664; 1749 to 1763; 1864 to 1887; 2005 to 2017; 2118 to 2140; 2306 to 2319; 2420 to 2441; 2514 to 2527; 2628 to 2649; 2707 to 2721; 2822 to 2845; 3014 to 3026; 3127 to 3149; 3225 to 3238; 3339 to 3360; 3451 to 3464; 3565 to 3586) AUTHORS Proia,R.L. and Soravia,E. TITLE Organization of the gene encoding the human beta-hexosaminidase alpha-chain JOURNAL J. Biol. Chem. 262 (12), 5677-5681 (1987) PUBMED 2952641 COMMENT On or before Aug 1, 2016 this sequence version replaced M16411.1, M16412.1, M16413.1, M16414.1, M16415.1, M16416.1, M16417.1, M16418.1, M16419.1, M16420.1, M16421.1, M16422.1, M16423.1, M16424.1, AH003579.1. FEATURES Location/Qualifiers source 1..4282 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /map="5q13" gene 481..3643 /gene="HEXA" CDS join(481..733,855..947,1069..1134,1256..1302,1424..1534, 1656..1757,1879..2011,2133..2313,2435..2521,2643..2715, 2837..3020,3142..3232,3354..3458,3580..3643) /gene="HEXA" /note="beta-hexosaminidase alpha chain" /codon_start=1 /protein_id="AAB00965.1" /translation="MTSSRLWFSLLLAAAFAGRATALWPWPQNFQTSDQRYVLYPNNF QFQYDVSSAAQPGCSVLDEAFQRYRDLLFGSGSWPRPYLTGKRHTLEKNVLVVSVVTP GCNQLPTLESVENYTLTINDDQCLLLSETVWGALRGLETFSQLVWKSAEGTFFINKTE IEDFPRFPHRGLLLDTSRHYLPLSSILDTLDVMAYNKLNVFHWHLVDDPSFPYESFTF PELMRKGSYNPVTHIYTAQDVKEVIEYARLRGIRVLAEFDTPGHTLSWGPGIPGLLTP CYSGSEPSGTFGPVNPSLNNTYEFMSTFFLEVSSVFPDFYLHLGGDEVDFTCWKSNPE IQDFMRKKGFGEDFKQLESFYIQTLLDIVSSYGKGYVVWQEVFDNKVKIQPDTIIQVW REDIPVNYMKELELVTKAGFRALLSAPWYLNRISYGPDWKDFYVVEPLAFEGTPEQKA LVIGGEACMWGEYVDNTNLVPRLWPRAGAVAERLWSNKLTSDLTFAYERLSHFRCELL RRGVQAQPLNVGFCEQEFEQT" prim_transcript <481..>739 /gene="HEXA" /note="bHex a-ch mRNA and intron" exon <481..733 /gene="HEXA" /note="beta-hexosaminidase alpha chain, (EC 3.2.1.52); G00-119-308" /number=1 intron 734..>739 /gene="HEXA" /note="bHex a-ch intron A" gap 740..839 /estimated_length=unknown prim_transcript <840..>953 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <840..854 /gene="HEXA" /note="bHex a-ch intron A" exon 855..947 /gene="HEXA" /note="G00-119-308" /number=2 intron 948..>953 /gene="HEXA" /note="bHex a-ch intron B" gap 954..1053 /estimated_length=unknown prim_transcript <1054..>1140 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <1054..1068 /gene="HEXA" /note="bHex a-ch intron B" exon 1069..1134 /gene="HEXA" /note="G00-119-308" /number=3 intron 1135..>1140 /gene="HEXA" /note="bHex a-ch intron C" gap 1141..1240 /estimated_length=unknown prim_transcript <1241..>1308 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <1241..1255 /gene="HEXA" /note="bHex a-ch intron C" exon 1256..1302 /gene="HEXA" /note="G00-119-308" /number=4 intron 1303..>1308 /gene="HEXA" /note="bHex a-ch intron D" gap 1309..1408 /estimated_length=unknown prim_transcript <1409..>1540 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <1409..1423 /gene="HEXA" /note="bHex a-ch intron D" exon 1424..1534 /gene="HEXA" /note="G00-119-308" /number=5 intron 1535..>1540 /gene="HEXA" /note="bHex a-ch intron E" gap 1541..1640 /estimated_length=unknown prim_transcript <1641..>1763 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <1641..1655 /gene="HEXA" /note="bHex a-ch intron E" exon 1656..1757 /gene="HEXA" /note="G00-119-308" intron 1758..>1763 /gene="HEXA" /note="bHex a-ch intron F" gap 1764..1863 /estimated_length=unknown prim_transcript <1864..>2017 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <1864..1878 /gene="HEXA" /note="bHex a-ch intron F" exon 1879..2011 /gene="HEXA" /note="G00-119-308" intron 2012..>2017 /gene="HEXA" /note="bHex a-ch intron G" gap 2018..2117 /estimated_length=unknown prim_transcript <2118..>2319 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <2118..2132 /gene="HEXA" /note="bHex a-ch intron G" exon 2133..2313 /gene="HEXA" /note="G00-119-308" intron 2314..>2319 /gene="HEXA" /note="bHex a-ch intron H" gap 2320..2419 /estimated_length=unknown prim_transcript <2420..>2527 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <2420..2434 /gene="HEXA" /note="bHex a-ch intron H" exon 2435..2521 /gene="HEXA" /note="G00-119-308" /number=9 intron 2522..>2527 /gene="HEXA" /note="bHex a-ch intron I" gap 2528..2627 /estimated_length=unknown prim_transcript <2628..>2721 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <2628..2642 /gene="HEXA" /note="bHex a-ch intron I" exon 2643..2715 /gene="HEXA" /note="G00-119-308" /number=10 intron 2716..>2721 /gene="HEXA" /note="bHex a-ch intron J" gap 2722..2821 /estimated_length=unknown prim_transcript <2822..>3026 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <2822..2836 /gene="HEXA" /note="bHex a-ch intron J" exon 2837..3020 /gene="HEXA" /note="G00-119-308" intron 3021..>3026 /gene="HEXA" /note="bHex a-ch intron K" gap 3027..3126 /estimated_length=unknown prim_transcript <3127..>3238 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <3127..3141 /gene="HEXA" /note="bHex a-ch intron K" exon 3142..3232 /gene="HEXA" /note="G00-119-308" intron 3233..>3238 /gene="HEXA" /note="bHex a-ch intron L" gap 3239..3338 /estimated_length=unknown prim_transcript <3339..>3464 /gene="HEXA" /note="bHex a-ch mRNA and intron" intron <3339..3353 /gene="HEXA" /note="bHex a-ch intron L" exon 3354..3458 /gene="HEXA" /note="G00-119-308" /number=13 intron 3459..>3464 /gene="HEXA" /note="bHex a-ch intron M" gap 3465..3564 /estimated_length=unknown prim_transcript <3565..4282 /note="bHex a-ch mRNA and intron (alt.)" prim_transcript <3565..3829 /note="bHex a-ch mRNA and intron (alt.)" intron <3565..3579 /gene="HEXA" /note="bHex a-ch intron M" exon 3580..>3643 /gene="HEXA" /note="beta-hexosaminidase alpha chain; G00-119-308" /number=14 BASE COUNT 619 a 811 c 770 g 782 t ORIGIN 316 bp upstream of MstII site; chromosome 15qll-15qter. 1 ttttaatcct ccgtttttct gcttctgaag ttacttcagc ctggcaagtc ctttacctcc 61 ccgtaggcct ggcgagctgc atcacaacat tcaagattca ccctagagcc atctgggaaa 121 ctttcttctc caggtcgccc tgcgtcctcg cctccccacc ccgttcttct cgagtcgggt 181 gagctgtcta gttccatcac ggccggcacg gccgcagggg tggccggtta tttactgctc 241 tactgggccc gtgagcagtc tggcgagccg agcagttgcc gacgcccggc acaatccgct 301 gcacgtagca ggagcctcag gtccaggccg gaagtgaaag ggcagggtgt gggtcctcct 361 ggggtcgcag gcgcagagcc gcctctggtc acgtgattcg ccgataagtc acgggggcgc 421 cgctcacctg accagggtct cacgtggcca gccccctccg agaggggaga ccagcgggcc 481 atgacaagct ccaggctttg gttttcgctg ctgctggcgg cagcgttcgc aggacgggcg 541 acggccctct ggccctggcc tcagaacttc caaacctccg accagcgcta cgtcctttac 601 ccgaacaact ttcaattcca gtacgatgtc agctcggccg cgcagcccgg ctgctcagtc 661 ctcgacgagg ccttccagcg ctatcgtgac ctgcttttcg gttccgggtc ttggccccgt 721 ccttacctca caggtgagtn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 781 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnna 841 ccctgtcttc ctagggaaac ggcatacact ggagaagaat gtgttggttg tctctgtagt 901 cacacctgga tgtaaccagc ttcctacttt ggagtcagtg gagaattgta agtnnnnnnn 961 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1021 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnntttctgt catttcagat accctgacca 1081 taaatgatga ccagtgttta ctcctctctg agactgtctg gggagctctc cgaggtaaca 1141 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1201 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn tctacatctt cctaggtctg 1261 gagactttta gccagcttgt ttggaaatct gctgagggca cagtatcann nnnnnnnnnn 1321 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1381 nnnnnnnnnn nnnnnnnnnn nnnnnnnngt ttgttctgca cagttcttta tcaacaagac 1441 tgagattgag gactttcccc gctttcctca ccggggcttg ctgttggata catctcgcca 1501 ttacctgcca ctctctagca tcctggacac tctggtaacc nnnnnnnnnn nnnnnnnnnn 1561 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1621 nnnnnnnnnn nnnnnnnnnn cactttaacc tacaggatgt catggcgtac aataaattga 1681 acgtgttcca ctggcatctg gtagatgatc cttccttccc atatgagagc ttcacttttc 1741 cagagctcat gagaaaggta tgtnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1801 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 1861 nnntcttgtg cctttcaggg gtcctacaac cctgtcaccc acatctacac agcacaggat 1921 gtgaaggagg tcattgaata cgcacggctc cggggtatcc gtgtgcttgc agagtttgac 1981 actcctggcc acactttgtc ctggggacca ggtaagannn nnnnnnnnnn nnnnnnnnnn 2041 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2101 nnnnnnnnnn nnnnnnnttt ctcttggctt aggtatccct ggattactga ctccttgcta 2161 ctctgggtct gagccctctg gcacctttgg accagtgaat cccagtctca ataataccta 2221 tgagttcatg agcacattct tcttagaagt cagctctgtc ttcccagatt tttatcttca 2281 tcttggagga gatgaggttg atttcacctg ctggtatgan nnnnnnnnnn nnnnnnnnnn 2341 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2401 nnnnnnnnnn nnnnnnnnnt ctcttgggat tcaggaagtc caacccagag atccaggact 2461 ttatgaggaa gaaaggcttc ggtgaggact tcaagcagct ggagtccttc tacatccaga 2521 cgtgaggnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2581 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnntcc tctcctctcc 2641 aggctgctgg acatcgtctc ttcttatggc aagggctatg tggtgtggca ggaggtgttt 2701 gataataaag taaaggtgag cnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2761 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 2821 ngacctttta taacagattc agccagacac aatcatacag gtgtggcgag aggatattcc 2881 agtgaactat atgaaggagc tggaactggt caccaaggcc ggcttccggg cccttctctc 2941 tgccccctgg tacctgaacc gtatatccta tggccctgac tggaaggatt tctacgtagt 3001 ggaacccctg gcatttgaag gtgaaannnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3061 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3121 nnnnnncttg ttttccctca ggtacccctg agcagaaggc tctggtgatt ggtggagagg 3181 cttgtatgtg gggagaatat gtggacaaca caaacctggt ccccaggctc tggtaaggnn 3241 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3301 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnncc ccttttcctc caggcccaga 3361 gcaggggctg ttgccgaaag gctgtggagc aacaagttga catctgacct gacatttgcc 3421 tatgaacgtt tgtcacactt ccgctgtgag ttgctgaggt aagcnnnnnn nnnnnnnnnn 3481 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn 3541 nnnnnnnnnn nnnnnnnnnn nnnncatgtc ctcttgcagg cgaggtgtcc aggcccaacc 3601 cctcaatgta ggcttctgtg agcaggagtt tgaacagacc tgagccccag gcaccgagga 3661 gggtgctggc tgtaggtgaa tggtagtgga gccaggcttc cactgcatcc tggccagggg 3721 acggagcccc ttgccttcgt gccccttgcc tgcgtgcccc tgtgcttgga gagaaagggg 3781 ccggtgctgg cgctcgcatt caataaagag taatgtggca tttttctata ataaacatgg 3841 attacctgtg tttaaaaaaa aaagtgtgaa tggcgttagg gtaagggcac agccaggctg 3901 gagtcagtgt ctgcccctga ggtcttttaa gttgagggct gggaatgaaa cctatagcct 3961 ttgtgctgtt ctgccttgcc tgtgagctat gtcactcccc tcccactcct gaccatattc 4021 cagacacctg ccctaatcct cagcctgctc acttcacttc tgcattatat ctccaaggcg 4081 ttggtatatg gaaaaagatg taggggcttg gaggtgttct ggacagtggg gagggctcca 4141 gacccaacct ggtcacaaaa gagcctctcc cccatgcata ctcatccacc tccctcccct 4201 agagctattc tcctttgggt ttcttgctgc tgcaatttta tacaaccatt atttaaatat 4261 tattaaacac atattgttct ct //