Homo Sapiens
LOCUS HSU24183
3067 bp mRNA PRI 12-MAR-1996
DEFINITION Human
phosphofructokinase (PFKM) mRNA, complete cds.
ACCESSION U24183
VERSION U24183.1
GI:975289
KEYWORDS .
SOURCE human.
ORGANISM Homo
sapiens
Eukaryota;
Metazoa; Chordata; Craniata; Vertebrata; Mammalia;
Eutheria;
Primates; Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases
1 to 3067)
AUTHORS Vasconcelos,O.,
Sivakumar,K., Dalakas,M.C., Quezado,M., Nagle,J.,
Leon-Monzon,M.,
Dubnick,M., Gajdusek,D.C. and Goldfarb,L.G.
TITLE Nonsense
mutation in the phosphofructokinase muscle subunit gene
associated with
retention of intron 10 in one of the isolated
transcripts in
Ashkenazi Jewish patients with Tarui disease
JOURNAL Proc.
Natl. Acad. Sci. U.S.A. 92 (22), 10322-10326 (1995)
MEDLINE 96036076
REFERENCE 2 (bases
1 to 3067)
AUTHORS Vasconcelos,O.
TITLE Direct
Submission
JOURNAL Submitted
(05-APR-1995) Olavo Vasconcelos, Clinical Neurogenetics
Unit, National
Institute of Neurological Disorders and Stroke,
12420 Parklawn
Drive, Rockville, MD 20852, USA
FEATURES Location/Qualifiers
source 1..3067
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q31"
/clone="PFK-1, PFK-2, PFK-3,
PFK-4, PFK-5"
/sex="female"
/tissue_type="skeletal
muscle"
/clone_lib="cDNA library was
constructed from total RNA
obtained from individual with PFK
deficiency"
gene 1274..2671
/gene="PFKM"
CDS 1274..2671
/gene="PFKM"
/EC_number="2.7.1.11"
/codon_start=1
/product="phosphofructokinase"
/protein_id="AAA91985.1"
/db_xref="GI:975290"
/translation="MGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVT
KAMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNA
AVRSTVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPK
KSFEQISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNV
PGSDFSVGADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGAD
AAYIFEEPFTIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGK
GIFDSRKNVLGHMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDS
GCVLGMRKRALVFQPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHA
HLEHITRKRSGEAAV"
BASE COUNT 729 a 738 c 841 g 759 t
ORIGIN
1 cgggcctccc ccctttccca aggacaatct gcaagaaagc agcggcggag
gagagctaag
61 actaaaagag tggatcatga cccatgaaga gcaccatgca gccaaaaccc
tggggattgg
121 caaagccatt gctgtcttaa cctctggtgg agatgcccaa ggtatgaatg
ctgctgtcag
181 ggctgtggtt cgagttggta tcttcaccgg tgcccgtgtc ttctttgtcc
atgagggtta
241 tcaaggcctg gtggatggtg gagatcacat caaggaagcc acctgggaga
gcgtttcgat
301 gatgcttcag ctgggaggca cggtgattgg aagtgcccgg tgcaaggact
ttcgggaatg
361 agaaggacga ctccgagctg cctacaacct ggtgaagcgt gggatcacca
atctctgtgt
421 cattgggggt gatggcagcc tcactggggc tgacaccttc cgttctgagt
ggagtgactt
481 gttgagtgac ctccagaaag caggtaagat cacagatgag gaggctacga
agtccagcta
541 cctgaacatt gtgggcctgg ttgggtcaat tgacaatgac ttctgtggca
ctgatatgac
601 cattggcact gactctgccc tgcatcggat catggaaatt gtagatgcca
tcactaccac
661 tgcccagagc caccagagga catttgtgtt agaagtaatg ggccgccact
gtggatacct
721 ggcccttgtc acctctctgt cctgtggggc cgactgggtt tttattcctg
aatgtccacc
781 agatgacgac tgggaggaac acctttgtcg ccgactcagc gagacaagga
cccgtggttc
841 tcgtctcaac atcatcattg tggctgaggg tgcaattgac aagaatggaa
aaccaatcac
901 ctcagaagac atcaagaatg ttcgtatgaa tgaagccaga gaggccttag
aatccatagc
961 ccattccctc ctggcttctg agtctcctga cattgcttct ccccttggtc
cttctgcaca
1021 tctctccctg gttccctgcc cctgattgcc tcccacaaag aaccattaca
agacaagagg
1081 ctgagctgtc catggtttac ccaagtctct gcttgttttc ttcctttgac
tctgcgtaac
1141 cctctctctg tccctctgtt ggtcccttca gctggtggtt aagcgtctgg
gatatgacac
1201 ccgggttact gtcttggggc atgtgcagag gggtgggacg ccatcagcct
ttgacagaat
1261 tctgggcagc aggatgggtg tggaagcagt gatggcactt ttggagggga
ccccagatac
1321 cccagcctgt gtagtgagcc tctctggtaa ccaggctgtg cgcctgcccc
tcatggaatg
1381 tgtccaggtg accaaagatg tgaccaaggc catggatgag aagaaatttg
acgaagccct
1441 gaagctgaga ggccggagct tcatgaacaa ctgggaggtg tacaagcttc
tagctcatgt
1501 cagacccccg gtatctaaga gtggttcgca cacagtggct gtgatgaacg
tgggggctcc
1561 ggctgcaggc atgaatgctg ctgttcgctc cactgtgagg attggcctta
tccagggcaa
1621 ccgagtgctc gttgtccatg atggtttcga gggcctggcc aaggggcaga
tagaggaagc
1681 tggctggagc tatgttgggg gctggactgg ccaaggtggc tctaaacttg
ggactaaaag
1741 gactctaccc aagaagagct ttgaacagat cagtgccaat ataactaagt
ttaacattca
1801 gggccttgtc atcattgggg gctttgaggc ttacacaggg ggcctggaac
tgatggaggg
1861 caggaagcag tttgatgagc tctgcatccc atttgtggtc attcctgcta
cagtctccaa
1921 caatgtccct ggctcagact tcagcgttgg ggctgacaca gcactcaata
ctatctgcac
1981 aacctgtgac cgcatcaagc agtcagcagc tggcaccaag cgtcgggtgt
ttatcattga
2041 gactatgggt ggctactgtg gctacctggc taccatggct ggactggcag
ctggggccga
2101 tgctgcctac atttttgagg agcccttcac cattcgagac ctgcaggcaa
atgttgaaca
2161 tctggtgcaa aagatgaaaa caactgtgaa aaggggcttg gtgttaagga
atgaaaagtg
2221 caatgagaac tataccactg acttcatttt caacctgtac tctgaggagg
ggaagggcat
2281 cttcgacagc aggaagaatg tgcttggtca catgcagcag ggtgggagcc
caactccatt
2341 tgataggaat tttgccacta agatgggcgc caaggctatg aactggatgt
ctgggaaaat
2401 caaagagagt taccgtaatg ggcggatctt tgccaatact ccagattcgg
gctgtgttct
2461 ggggatgcgt aagagggctc tggtcttcca accagtggct gagctgaagg
accagacaga
2521 ttttgagcat cgaatcccca aggaacagtg gtggctgaaa ctgaggccca
tcctcaaaat
2581 cctagccaag tacgagattg acttggacac ttcagaccat gcccacctgg
agcacatcac
2641 ccggaagcgg tccggggaag ctgccgtcta aacctctctg gagtgagggg
aatagattac
2701 ctgatcatgg tcagctcaca ccctaataag tccacatctt ctcagtgttt
tagctgtttt
2761 tttcattagg tttcctttta ttctgtacct tgcagccatg accagttctg
gccaggagct
2821 ggaggagcag gcagtgggtg ggagctcctt ttaggtagaa tttaacatga
cttctgcccc
2881 agctttatct gtcacacaag gctgggcacc tctagtgcta ctgctagata
tcacttactc
2941 agttagaatt ttcctaaaaa taagctttat ttatttcttt gtgataacaa
agagtcttgg
3001 ttcctctact acttttacta cagtgacaaa ttgtaactac actaataaat
gccaactggt
3061 cactgtg