LOCUS
NM_000034 1464 bp mRNA
PRI 01-APR-1999
DEFINITION Homo sapiens aldolase A, fructose-bisphosphate (ALDOA)
mRNA.
ACCESSION NM_000034
VERSION NM_000034.1 GI:4557304
KEYWORDS .
SOURCE human.
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Mammalia;
Eutheria; Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1464)
AUTHORS Sakakibara,M., Mukai,T. and Hori,K.
TITLE Nucleotide sequence of a cDNA clone for human
aldolase: a messenger
RNA in the liver
JOURNAL Biochem. Biophys. Res. Commun. 131 (1), 413-420 (1985)
MEDLINE 85306986
REFERENCE 2 (sites)
AUTHORS Maire,P., Gautron,S., Hakim,V., Gregori,C., Mennecier,F.
and
Kahn,A.
TITLE Characterization of three optional promoters
in the 5' region of
the human aldolase A gene
JOURNAL J. Mol. Biol. 197 (3), 425-438 (1987)
MEDLINE 88155643
REFERENCE 3 (bases 1 to 1464)
AUTHORS Izzo,P., Costanzo,P., Lupo,A., Rippa,E., Paolella,G.
and
Salvatore,F.
TITLE Human aldolase A gene. Structural organization
and tissue-specific
expression by multiple promoters and alternate mRNA processing
JOURNAL Eur. J. Biochem. 174 (4), 569-578 (1988)
MEDLINE 88271327
COMMENT REFSEQ: This reference sequence was derived
from M11560.
Summary: The ALDOA gene product, Aldolase A (fructose-bisphosphate
aldolase; EC 4.1.2.13 ) is a glycolytic enzyme that catalyzes the
reversible conversion of fructose-1,6-bisphosphate to
glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three
aldolase isozymes (A, B, and C), encoded by three different genes,
are differentially expressed during development. Aldolase A is
found in the developing embryo and is produced in even greater
amounts in adult muscle. Aldolase A expression is repressed in
adult liver, kidney and intestine, and aldolase B is produced. In
brain and other nervous tissue, aldolase A and C expression is
about equal. Aldolase A deficiency has been associated with
myopathy and hemolytic anemia.
FEATURES
Location/Qualifiers
source 1..1464
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="16"
/map="16q22.2"
/tissue_type="liver"
gene
1..1464
/gene="ALDOA"
/db_xref="LocusID:226"
/db_xref="MIM:103850"
CDS
168..1262
/gene="ALDOA"
/EC_number="4.1.2.13"
/note="fructose-bisphosphate aldolase"
/codon_start=1
/product="aldolase A"
/protein_id="NP_000025.1"
/db_xref="GI:4557305"
/translation="MPYQYPALTPEQKKELSDIAHRIVAPGKGILAADESTGSIAKRL
QSIGTENTEENRRFYRQLLLTADDRVNPCIGGVILFHETLYQKADDGRPFPQVIKSKG
GVVGIKVDKGVVPLAGTNGETTTQGLDGLSERCAQYKKDGADFAKWRCVLKIGEHTPS
ALAIMENANVLARYASICQQNGIVPIVEPEILPDGDHDLKRCQYVTEKVLAAVYKALS
DHHIYLEGTLLKPNMVTPGHACTQKFSHEEIAMATVTALRRTVPPAVTGITFLSGGQS
EEEASINLNAINKCPLLKPWALTFSYGRALQASALKAWGGKKENLKAAQEEYVKRALA
NSLACQGKYTPSGQAGAAASESLFVSNHAY"
BASE COUNT 310 a 452 c
409 g 293 t
ORIGIN
1 agtaccgggt acgcaggggt gcctcaacca cactccgtcc acggactctc cgttatttta
61 ggaggtccct ggccaaagat ttatttctct tgacaaccaa gggcctccgt ctggatttcc
121 aaggaagaat ttcctctgaa gcaccggaac ttgctactac cagcaccatg ccctaccaat
181 atccagcact gaccccggag cagaagaagg agctgtctga catcgctcac cgcatcgtgg
241 cacctggcaa gggcatcctg gctgcagatg agtccactgg gagcattgcc aagcggctgc
301 agtccattgg caccgagaac accgaggaga accggcgctt ctaccgccag ctgctgctga
361 cagctgacga ccgcgtgaac ccctgcattg ggggtgtcat cctcttccat gagacactct
421 accagaaggc ggatgatggg cgtcccttcc cccaagttat caaatccaag ggcggtgttg
481 tgggcatcaa ggtagacaag ggcgtggtcc ccctggcagg gacaaatggc gagactacca
541 cccaagggtt ggatgggctg tctgagcgct gtgcccagta caagaaggac ggagctgact
601 tcgccaagtg gcgttgtgtg ctgaagattg gggaacacac cccctcagcc ctcgccatca
661 tggaaaatgc caatgttctg gcccgttatg ccagtatctg ccagcagaat ggcattgtgc
721 ccatcgtgga gcctgagatc ctccctgatg gggaccatga cttgaagcgc tgccagtatg
781 tgaccgagaa ggtgctggct gctgtctaca aggctctgag tgaccaccac atctacctgg
841 aaggcacctt gctgaagccc aacatggtca ccccaggcca tgcttgcact cagaagtttt
901 ctcatgagga gattgccatg gcgaccgtca cagcgctgcg ccgcacagtg ccccccgctg
961 tcactgggat caccttcctg tctggaggcc agagtgagga ggaggcgtcc atcaacctca
1021 atgccattaa caagtgcccc ctgctgaagc cctgggccct gaccttctcc tacggccgag
1081 ccctgcaggc ctctgccctg aaggcctggg gcgggaagaa ggagaacctg aaggctgcgc
1141 aggaggagta tgtcaagcga gccctggcca acagccttgc ctgtcaagga aagtacactc
1201 cgagcggtca ggctggggct gctgccagcg agtccctctt cgtctctaac cacgcctatt
1261 aagcggaggt gttcccaggc tgcccccaac aactccaggc cctgccccct cccactcttg
1321 aagaggaggc cgcctcctcg gggctccagg ctggcttgcc cgcgctcttt cttccctcgt
1381 gacagtggtg tgtggtgtcg tctgtgaatg ctaagtccat caccctttcc ggcacactgc
1441 caaataaaca gctatttaag gggg
//