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