LOCUS HUMGCBPRC 2275 bp mRNA linear HUM 27-APR-1993
DEFINITION Human glucocerebrosidase mRNA, complete cds.
ACCESSION M19285
VERSION M19285.1
KEYWORDS glucocerebrosidase.
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 2275)
AUTHORS Horowitz,M.
JOURNAL Unpublished
REFERENCE 2 (bases 1 to 140)
AUTHORS Reiner,O., Wigderson,M. and Horowitz,M.
TITLE Structural analysis of the human glucocerebrosidase genes
JOURNAL DNA 7 (2), 107-116 (1988)
PUBMED 3359914
COMMENT Original source text: Human erythroid cell line K562, cDNA to mRNA,
clone p7-2-1.
Draft entry and computer-readable sequence for [2],[1] kindly
provided by M,Horowitz, 13-MAY-1988.
An alternativa initiation codon is locate at positions 183-185 and
alternative poly-adenylation signals at positions 2250-2255 (major)
and 1774-1779 (minor).
FEATURES Location/Qualifiers
source 1..2275
/db_xref="H-InvDB:HIT000194682"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
mRNA <1..2275
/product="GCB mRNA"
CDS 123..1733
/note="glucocerebrosidase"
/codon_start=1
/protein_id="AAA35880.1"
/translation="MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCI
PKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGT
GLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRV
PMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPW
TSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPS
AGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVV
LTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVR
LGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTF
YKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVP
LTIKDPAVGFLETISPGYSIHTYLWHRQ"
BASE COUNT 523 a 652 c 596 g 503 t
ORIGIN 32 bp upstream of KpnI site; chromosome 1q21-31.
1 gctaacctag tgcctatagc taaggcaggt acctgcatcc ttgtttttgt ttagtggatc
61 ctctatcctt cagagactct ggaacccctg tggtcttctc ttcatctaat gaccctgagg
121 ggatggagtt ttcaagtcct tccagagagg aatgtcccaa gcctttgagt agggtaagca
181 tcatggctgg cagcctcaca ggtttgcttc tacttcaggc agtgtcgtgg gcatcaggtg
241 cccgcccctg catccctaaa agcttcggct acagctcggt ggtgtgtgtc tgcaatgcca
301 catactgtga ctcctttgac cccccgacct ttcctgccct tggtaccttc agccgctatg
361 agagtacacg cagtgggcga cggatggagc tgagtatggg gcccatccag gctaatcaca
421 cgggcacagg cctgctactg accctgcagc cagaacagaa gttccagaaa gtgaagggat
481 ttggaggggc catgacagat gctgctgctc tcaacatcct tgccctgtca ccccctgccc
541 aaaatttgct acttaaatcg tacttctctg aagaaggaat cggatataac atcatccggg
601 tacccatggc cagctgtgac ttctccatcc gcacctacac ctatgcagac acccctgatg
661 atttccagtt gcacaacttc agcctcccag aggaagatac caagctcaag atacccctga
721 ttcaccgagc cctgcagttg gcccagcgtc ccgtttcact ccttgccagc ccctggacat
781 cacccacttg gctcaagacc aatggagcgg tgaatgggaa ggggtcactc aagggacagc
841 ccggagacat ctaccaccag acctgggcca gatactttgt gaagttcctg gatgcctatg
901 ctgagcacaa gttacagttc tgggcagtga cagctgaaaa tgagccttct gctgggctgt
961 tgagtggata ccccttccag tgcctgggct tcacccctga acatcagcga gacttcattg
1021 cccgtgacct aggtcctacc ctcgccaaca gtactcacca caatgtccgc ctactcatgc
1081 tggatgacca acgcttgctg ctgccccact gggcaaaggt ggtactgaca gacccagaag
1141 cagctaaata tgttcatggc attgctgtac attggtacct ggactttctg gctccagcca
1201 aagccaccct aggggagaca caccgcctgt tccccaacac catgctcttt gcctcagagg
1261 cctgtgtggg ctccaagttc tgggagcaga gtgtgcggct aggctcctgg gatcgaggga
1321 tgcagtacag ccacagcatc atcacgaacc tcctgtacca tgtggtcggc tggaccgact
1381 ggaaccttgc cctgaacccc gaaggaggac ccaattgggt gcgtaacttt gtcgacagtc
1441 ccatcattgt agacatcacc aaggacacgt tttacaaaca gcccatgttc taccaccttg
1501 gccacttcag caagttcatt cctgagggct cccagagagt ggggctggtt gccagtcaga
1561 agaacgacct ggacgcagtg gcactgatgc atcccgatgg ctctgctgtt gtggtcgtgc
1621 taaaccgctc ctctaaggat gtgcctctta ccatcaagga tcctgctgtg ggcttcctgg
1681 agacaatctc acctggctac tccattcaca cctacctgtg gcatcgccag tgatggagca
1741 gatactcaag gaggcactgg gctcagcctg ggcattaaag ggacagagtc agctcacacg
1801 ctgtctgtga ctaaagaggg cacagcaggg ccagtgtgag cttacagcga cgtaagccca
1861 ggggcaatgg tttgggtgac tcactttccc ctctaggtgg tgcccagggc tggaggcccc
1921 tagaaaaaga tcagtaagcc ccagtgtccc cccagccccc atgcttatgt gaacatgcgc
1981 tgtgtgctgc ttgctttgga aactngcctg ggtccaggcc tagggtgagc tcactgtccg
2041 tacaaacaca agatcagggc tgagggtaag gaaaagaaga gactaggaaa gctgggccca
2101 aaactggaga ctgtttgtct ttcctagaga tgcagaactg ggcccgtgga gcagcagtgt
2161 cagcatcagg gcggaagcct taaagcagca gcgggtgtgc ccaggcaccc agatgattcc
2221 tatggcacca gccaggaaaa atggcagctc ttaaaggaga aaatgtttga gccca
//