LOCUS HUMGALC 3777 bp mRNA linear HUM 10-MAR-1994
DEFINITION Homo sapiens galactocerebrosidase (GALC) mRNA, complete cds.
ACCESSION L23116
VERSION L23116.1
KEYWORDS galactocerebrosidase.
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 3777)
AUTHORS Chen,Y.Q., Rafi,M.A., de Gala,G. and Wenger,D.A.
TITLE Cloning and expression of cDNA encoding human galactocerebrosidase,
the enzyme deficient in globoid cell leukodystrophy
JOURNAL Hum. Mol. Genet. 2 (11), 1841-1845 (1993)
PUBMED 8281145
COMMENT Original source text: Homo sapiens cDNA to mRNA.
FEATURES Location/Qualifiers
source 1..3777
/db_xref="H-InvDB:HIT000192528"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/tissue_type="brain, kidney"
/tissue_lib="Clontech"
gene 1..3777
/gene="GALC"
CDS 48..2057
/gene="GALC"
/codon_start=1
/product="galctocerebrosidase"
/protein_id="AAA16645.1"
/translation="MTAAAGSAGRAAVPLLLCALLAPGGAYVLDDSDGLGREFDGIGA
VSGGGATSRLLVNYPEPYRSQILDYLFKPNFGASLHILKVEIGGDGQTTDGTEPSHMH
YALDENYFRGYEWWLMKEAKKRNPNITLIGLPWSFPGWLGKGFDWPYVNLQLTAYYVV
TWIVGAKRYHDLDIDYIGIWNERSYNANYIKILRKMLNYQGLQRVKIIASDNLWESIS
ASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGKKLWSSEDFSTLNSDMGAGCWGRIL
NQNYINGYMTSTIAWNLVASYYEQLPYGRCGLMTAQEPWSGHYVVESPVWVSAHTTQF
TQPGWYYLKTVGHLEKGGSYVALTDGLGNLTIIIETMSHKHSKCIRPFLPYFNVSQQF
ATFVLKGSFSEIPELQVWYTKLGKTSERFLFKQLDSLWLLDSDGSFTLSLHEDELFTL
TTLTTGRKGSYPLPPKSQPFPSTYKDDFNVDYPFFSEAPNFADQTGVFEYFTNIEDPG
EHHFTLRQVLNQRPITWAADASNTISIIGDYNWTNLTIKCDVYIETPDTGGVFIAGRV
NKGGILIRSARGIFFWIFANGSYRVTGDLAGWIIYALGRVEVTAKKWYTLTLTIKGHF
ASGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR"
polyA_site 3777
/gene="GALC"
BASE COUNT 1040 a 744 c 813 g 1180 t
ORIGIN
1 tggctgagtg gctactctcg gcttcctggc aacgccgagc gaaagctatg actgcggccg
61 cgggttcggc gggccgcgcc gcggtgccct tgctgctgtg tgcgctgctg gcgcccggcg
121 gcgcgtacgt gctcgacgac tccgacgggc tgggccggga gttcgacggc atcggcgcgg
181 tcagcggcgg cggggcaacc tcccgacttc tagtaaatta cccagagccc tatcgttctc
241 agatattgga ttatctcttt aagccgaatt ttggtgcctc tttgcatatt ttaaaagtgg
301 aaataggtgg tgatgggcag acaacagacg gcactgagcc ctcccacatg cattatgcac
361 tagatgagaa ttatttccga ggatacgagt ggtggttgat gaaagaagct aagaagagga
421 atcccaatat tacactcatt gggttgccat ggtcattccc tggatggctg ggaaaaggtt
481 tcgactggcc ttatgtcaat cttcagctga ctgcctatta tgtcgtgacc tggattgtgg
541 gcgccaagcg ttaccatgat ttggacattg attatattgg aatttggaat gagaggtcat
601 ataatgccaa ttatattaag atattaagaa aaatgctgaa ttatcaaggt ctccagcgag
661 tgaaaatcat agcaagtgat aatctctggg agtccatctc tgcatccatg ctccttgatg
721 ccgaactttt caaggtggtt gatgttatag gggctcatta tcctggaacc cattcagcaa
781 aagatgcaaa gttgactggg aagaagcttt ggtcttctga agactttagc actttaaata
841 gtgacatggg tgcaggctgc tggggtcgca ttttaaatca gaattatatc aatggctata
901 tgacttccac aatcgcatgg aatttagtgg ctagttacta tgaacagttg ccttatggga
961 gatgcgggtt gatgacggcc caagagccat ggagtgggca ctacgtggta gaatctcctg
1021 tctgggtatc agctcatacc actcagttta ctcaacctgg ctggtattac ctgaagacag
1081 ttggccattt agagaaagga ggaagctacg tagctctgac tgatggctta gggaacctca
1141 ccatcatcat tgaaaccatg agtcataaac attctaagtg catacggcca tttcttcctt
1201 atttcaatgt gtcacaacaa tttgccacct ttgttcttaa gggatctttt agtgaaatac
1261 cagagctaca ggtatggtat accaaacttg gaaaaacatc cgaaagattt ctttttaagc
1321 agctggattc tctatggctc cttgacagtg atggcagttt cacactgagc ctgcatgaag
1381 atgagctgtt cacactcacc actctcacca ctggtcgcaa aggcagctac ccgcttcctc
1441 caaaatccca gcccttccca agtacctata aggatgattt caatgttgat tacccatttt
1501 ttagtgaagc tccaaacttt gctgatcaaa ctggtgtatt tgaatatttt acaaatattg
1561 aagaccctgg cgagcatcac ttcacgctac gccaagttct caaccagaga cccattacgt
1621 gggctgccga tgcatccaac acaatcagta ttataggaga ctacaactgg accaatctga
1681 ctataaagtg tgatgtttac atagagaccc ctgacacagg aggtgtgttc attgcaggaa
1741 gagtaaataa aggtggtatt ttgattagaa gtgccagagg aattttcttc tggatttttg
1801 caaatggatc ttacagggtt acaggtgatt tagctggatg gattatatat gctttaggac
1861 gtgttgaagt tacagcaaaa aaatggtata cactcacgtt aactattaag ggtcatttcg
1921 cctctggcat gctgaatgac aagtctctgt ggacagacat ccctgtgaat tttccaaaga
1981 atggctgggc tgcaattgga actcactcct ttgaatttgc acagtttgac aactttcttg
2041 tggaagccac acgctaatac ttaacagggc atcatagaat actctggatt ttcttccctt
2101 ctttttggtt ttggttcaga gccaattctt gtttcattgg aacagtatat gaggcttttg
2161 agactaaaaa taatgaagag taaaagggga gagaaattta tttttaattt accctgtgga
2221 agattttatt agaattaatt ccaaggggaa aactggtgaa tctttaacat tacctggtgt
2281 gttccctaac attcaaactg tgcattggcc atacccttag gagtggtttg agtagtacag
2341 acctcgaagc cttgctgcta acacctgagg tagctctctt catcttattt gcgagcggtc
2401 tctgtagagt ggcagtaact tgatcatcac tgagatgtat tgtatgcatg ctgaccgtgt
2461 gtccaagtga gccagtgtct gtcatcacaa gatgatgctg ccataataga aagctgaaga
2521 acactagaag tagcttcttg aaaaccactt caacctgtta tgctttatgc tctaaaaagt
2581 atttttttat tttccttttt aagatgatac ttttgaaatg caggatatgg atgagtggga
2641 tgattttaaa aacgcctgtt taataaacta cctctaacac tatttctgcg gtaatagata
2701 ttagcagatt aattgggtta tttgcattat ttaatttttt tgattccaag gttttggtct
2761 tgtaaccact atcactctct gtgaacgttt ttccaggtgg ctggaagaag gaagaaaacc
2821 tgatatagcc aatgctgttg tagtcgtttc ctcagcctca tctcactgtg ctgtggtctg
2881 tcctcacatg tgcactggta acagactcac acagctgatg aatgcttttc tctccttatg
2941 tgtggaagga ggggagcact tagacatttg ctaactccca gagttggatc atctcctaag
3001 atgtacttac tttttaaagt ccaaatatgt ttatatttaa atatacgtga gcatgttcat
3061 catgttgtat gatttatact aagcattaat gtggctctat gtagcaaatc agttattcat
3121 gtaggtaaag taaatctaga attatttata agaattactc attgaactaa ttctactatt
3181 taggaatttg taagagtcta acataggctt agctacagtg aagttttgca ttgcttttga
3241 agacaagaaa agtgctagaa taaataagat tacagagaaa attttttgtt aaaaccaagt
3301 gatttccagc tgatgtatct aatatttttt aaaacaaaca ttatagaggt gtaatttatt
3361 tacaataaaa tgttcctact ttaaatatac aattcagtga gttttgataa attgatatac
3421 ccatgtaacc aacactccag tcaagcttca gaatatttcc atcaccccag aaggttctct
3481 tgtatacctg ctcagtcagt tcctttcact cccaattgtt ggcagccatt gataggaatt
3541 ctatcactat aggttagttt tctttgttcc agaacatcat gaaagcggcg tcatgtactg
3601 tgtattctta tgaatggttt ctttccatca gcataatgct ttgagattgg tccatgttgt
3661 gtgattcagt ggtttgttcc ttcttatttc tgaaaagttt tccattgtat gaatatacca
3721 caatttgttt cctccccacc agtttctgat actacaatta aaactgtcta catttac
//