Human Gene PFKFB3 (uc010qaw.2)
Description: Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 2, mRNA.
RefSeq Summary (NM_001145443): The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016].
Transcript (Including UTRs)
Position: hg19 chr10:6,188,279-6,277,507 Size: 89,229 Total Exon Count: 15 Strand: +
Coding Region
Position: hg19 chr10:6,188,342-6,274,905 Size: 86,564 Coding Exon Count: 15
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): PFKFB3
CDC HuGE Published Literature: PFKFB3
Positive Disease Associations: Depressive Disorder, Major
, Stroke
Related Studies: Depressive Disorder, Major , , .
[PubMed 0 ]
Stroke , , .
[PubMed 0 ]
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR003094 - 6Pfruct_kin
IPR013079 - 6Phosfructo_kin
IPR016260 - Bifunct_6PFK/fruc_bisP_Ptase
IPR013078 - His_Pase_superF_clade-1
IPR001345 - PG/BPGM_mutase_AS
Pfam Domains: PF00300 - Histidine phosphatase superfamily (branch 1)
PF01591 - 6-phosphofructo-2-kinase
PF13671 - AAA domain
SCOP Domains: 52540 - P-loop containing nucleoside triphosphate hydrolases
53254 - Phosphoglycerate mutase-like
ModBase Predicted Comparative 3D Structure on B7Z955
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AK302518 - Homo sapiens cDNA FLJ56320 complete cds, highly similar to 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3.AK131307 - Homo sapiens cDNA FLJ16284 fis, clone NTONG2008093, highly similar to 6PF-2-K/FRU-2,6-P2ASE BRAIN/PLACENTA-TYPE ISOZYME.LP895193 - Sequence 57 from Patent EP3253886.AK303039 - Homo sapiens cDNA FLJ54727 complete cds, highly similar to 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3.BC037258 - Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3, mRNA (cDNA clone IMAGE:4829925).AK304450 - Homo sapiens cDNA FLJ54731 complete cds, highly similar to 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3.L77662 - Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase mRNA, complete cds.AK291263 - Homo sapiens cDNA FLJ75111 complete cds, highly similar to Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3(PFKFB3), mRNA.BC040482 - Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3, mRNA (cDNA clone MGC:33102 IMAGE:5271907), complete cds.AF056320 - Homo sapiens inducible 6-phosphofructo-2-kinase/fructose 2,6-bisphosphatase (IPFK-2) mRNA, complete cds.AF109735 - Homo sapiens ubiquitous 6-phosphofructo-2-kinase/fructose 2,6-bisphosphatase (PFKFB3) mRNA, complete cds.D49817 - Homo sapiens mRNA for 6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase, complete cds.HQ257991 - Synthetic construct Homo sapiens clone IMAGE:100072300 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1 (PFKFB3) gene, encodes complete protein.KJ891786 - Synthetic construct Homo sapiens clone ccsbBroadEn_01180 PFKFB3 gene, encodes complete protein.KJ905257 - Synthetic construct Homo sapiens clone ccsbBroadEn_14744 PFKFB3 gene, encodes complete protein.JD027144 - Sequence 8168 from Patent EP1572962.JD029247 - Sequence 10271 from Patent EP1572962.DQ590090 - Homo sapiens piRNA piR-57202, complete sequence.AJ272438 - Homo sapiens partial mRNA for 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase (PFKFB3 gene) alternative splice isoform 1.AJ272439 - Homo sapiens partial mRNA for 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase (PFKFB3 gene) alternative splice isoform 3.AJ272440 - Homo sapiens partial mRNA for 6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase (PFKFB3 gene) alternative splice isoform 6.AJ295747 - Homo sapiens partial mRNA for 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase, splice isoform 2 (PFKFB3 gene).BC042656 - Homo sapiens, clone IMAGE:4776440, mRNA.AK094645 - Homo sapiens cDNA FLJ37326 fis, clone BRAMY2018308.AL583908 - Homo sapiens mRNA; cDNA DKFZp761I0521 (from clone DKFZp761I0521).JD144850 - Sequence 125874 from Patent EP1572962.JD251795 - Sequence 232819 from Patent EP1572962.JD163861 - Sequence 144885 from Patent EP1572962.JD527206 - Sequence 508230 from Patent EP1572962.JD105177 - Sequence 86201 from Patent EP1572962.JD471705 - Sequence 452729 from Patent EP1572962.DQ576093 - Homo sapiens piRNA piR-44205, complete sequence.JD551140 - Sequence 532164 from Patent EP1572962.JD430762 - Sequence 411786 from Patent EP1572962.JD392346 - Sequence 373370 from Patent EP1572962.JD393245 - Sequence 374269 from Patent EP1572962.JD450334 - Sequence 431358 from Patent EP1572962.JD265726 - Sequence 246750 from Patent EP1572962.JD384054 - Sequence 365078 from Patent EP1572962.JD201664 - Sequence 182688 from Patent EP1572962.JD057985 - Sequence 39009 from Patent EP1572962.JD361993 - Sequence 343017 from Patent EP1572962.JD459803 - Sequence 440827 from Patent EP1572962.JD131405 - Sequence 112429 from Patent EP1572962.JD494576 - Sequence 475600 from Patent EP1572962.JD205604 - Sequence 186628 from Patent EP1572962.JD537663 - Sequence 518687 from Patent EP1572962.JD194187 - Sequence 175211 from Patent EP1572962.JD038415 - Sequence 19439 from Patent EP1572962.JD547795 - Sequence 528819 from Patent EP1572962.JD257546 - Sequence 238570 from Patent EP1572962.JD250525 - Sequence 231549 from Patent EP1572962.JD487086 - Sequence 468110 from Patent EP1572962.JD399853 - Sequence 380877 from Patent EP1572962.JD470132 - Sequence 451156 from Patent EP1572962.JD374043 - Sequence 355067 from Patent EP1572962.JD345759 - Sequence 326783 from Patent EP1572962.JD533418 - Sequence 514442 from Patent EP1572962.JD433399 - Sequence 414423 from Patent EP1572962.JD196220 - Sequence 177244 from Patent EP1572962.JD241138 - Sequence 222162 from Patent EP1572962.JD554443 - Sequence 535467 from Patent EP1572962.AJ227868 - Homo sapiens partial mRNA; ID YG40-4, ED166-8F, EE2-12B.JD247938 - Sequence 228962 from Patent EP1572962.JD190009 - Sequence 171033 from Patent EP1572962.JD382209 - Sequence 363233 from Patent EP1572962.MP067517 - Sequence 21 from Patent WO2018232288.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00051 - Fructose and mannose metabolism
Other Names for This Gene
Alternate Gene Symbols: AK304450, B7Z955, B7Z955_HUMAN, NM_001145443, NP_001138915UCSC ID: uc010qaw.2RefSeq Accession: NM_001145443
Protein: B7Z955
CCDS: CCDS60479.1
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
AK304450.1
exon count:
15 CDS single in 3' UTR:
no
RNA size:
2094
ORF size:
1605 CDS single in intron:
no
Alignment % ID:
99.76
txCdsPredict score:
3410.00 frame shift in genome:
no
% Coverage:
100.00
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.