PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PFKFB1provided by HGNC
Official Full Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1provided by HGNC
Primary source: HGNC:HGNC:8872
See related: Ensembl:ENSG00000158571 MIM:311790; AllianceGenome:HGNC:8872
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: F6PK; HL2K; PFRX
Summary: This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
Expression: Biased expression in fat (RPKM 14.1) and liver (RPKM 5.1) See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.21

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (54932961..54998789, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (54226089..54293383, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (54959394..55025222, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Insulin resistance in obese boys leads to up-regulation of INSIG2 gene expression as well as to down-regulation of PFKFB1, PFKFB3, and HK2 genes in the blood cells as compared to obese patients with normal insulin sensitivity.
Title: [EXPRESSION OF GENES, WHICH CONTROL GLUCOSE METABOLISM, IN BLOOD CELLS OF THE OBESE BOYS WITH INSULIN RESISTANCE].
Observational study of genetic testing. (HuGE Navigator)
Title: Perioperative genomic profiles using structure-specific oligonucleotide probes.
Results describe structural differences between two isozymes of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase from liver and testis.
Title: Tissue-specific structure/function differentiation of the liver isoform of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483846

AL023939 (e-PCR)
- UniSTS:58123

RH41856 (e-PCR)
- UniSTS:88609

SHGC-132037 (e-PCR)
- UniSTS:173884

PFKFB1_8533 (e-PCR)
- UniSTS:468589

SHGC-58281 (e-PCR)
- UniSTS:31420

DXS8282 (e-PCR)
- UniSTS:35803

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 6-phosphofructo-2-kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 6-phosphofructo-2-kinase activity	TAS Traceable Author Statement more info	PubMed
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables fructose-2,6-bisphosphate 2-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables fructose-2,6-bisphosphate 2-phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables fructose-6-phosphate binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in animal organ regeneration	IEA Inferred from Electronic Annotation more info
involved_in carbohydrate phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in fructose 2,6-bisphosphate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in fructose 2,6-bisphosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fructose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in gluconeogenesis	TAS Traceable Author Statement more info	PubMed
involved_in glycolytic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of glycolytic process through fructose-6-phosphate	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glycolytic process through fructose-6-phosphate	IEA Inferred from Electronic Annotation more info
involved_in response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in response to glucagon	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to starvation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1

Names: 6PF-2-K/Fru-2,6-P2ASE liver isozyme; 6PF-2-K/Fru-2,6-P2ase 1; PFK/FBPase 1; fructose-6-phosphate,2-kinase:fructose-2,6-bisphosphatase

NP_001258733.1

EC 2.7.1.105

EC 3.1.3.46

NP_001258734.1

EC 2.7.1.105

EC 3.1.3.46

NP_002616.2

EC 2.7.1.105

EC 3.1.3.46

XP_016885065.1

EC 2.7.1.105

EC 3.1.3.46

XP_016885066.1

EC 2.7.1.105

EC 3.1.3.46

XP_016885067.1

EC 2.7.1.105

EC 3.1.3.46

XP_024308157.1

EC 2.7.1.105

EC 3.1.3.46

XP_047298113.1

EC 2.7.1.105

EC 3.1.3.46

XP_047298114.1

EC 2.7.1.105

EC 3.1.3.46

XP_054183160.1

EC 2.7.1.105

EC 3.1.3.46

XP_054183161.1

EC 2.7.1.105

EC 3.1.3.46

XP_054183162.1

EC 2.7.1.105

EC 3.1.3.46

XP_054183163.1

EC 2.7.1.105

EC 3.1.3.46

XP_054183164.1

EC 2.7.1.105

EC 3.1.3.46

XP_054183165.1

EC 2.7.1.105

EC 3.1.3.46

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013254.1 RefSeqGene

Range

4891..66118

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001271804.2 → NP_001258733.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform 2

See identical proteins and their annotated locations for NP_001258733.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame segment in the coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.

Source sequence(s)

AK300724, AK314089, AL020991, AL049732, JQ425695

UniProtKB/TrEMBL

I1Z9G4, Q4VBA8

Conserved Domains (3) summary

pfam00300
Location:232 → 415

His_Phos_1; Histidine phosphatase superfamily (branch 1)

pfam01591
Location:30 → 229

6PF2K; 6-phosphofructo-2-kinase

pfam13671
Location:44 → 176

AAA_33; AAA domain
NM_001271805.2 → NP_001258734.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform 3

See identical proteins and their annotated locations for NP_001258734.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two 5' exons and contains an alternate 5' exon, compared to variant 1. The resulting isoform (3) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK300724, AL020991, AL049732

Consensus CDS

CCDS65273.1

UniProtKB/TrEMBL

Q4VBA8

Related

ENSP00000444074.1, ENST00000545676.5

Conserved Domains (2) summary

pfam00300
Location:189 → 372

His_Phos_1; Histidine phosphatase superfamily (branch 1)

pfam01591
Location:7 → 186

6PF2K; 6-phosphofructo-2-kinase
NM_002625.4 → NP_002616.2 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform 1

See identical proteins and their annotated locations for NP_002616.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AK314089, AL020991, AL049732, AL703826, X52638

Consensus CDS

CCDS14364.1

UniProtKB/Swiss-Prot

B2RA88, B4DUN5, P16118, Q5JXS5, Q99951

UniProtKB/TrEMBL

Q4VBA8

Related

ENSP00000364145.3, ENST00000375006.8

Conserved Domains (3) summary

pfam00300
Location:254 → 437

His_Phos_1; Histidine phosphatase superfamily (branch 1)

pfam01591
Location:30 → 251

6PF2K; 6-phosphofructo-2-kinase

pfam13671
Location:44 → 198

AAA_33; AAA domain

RNA

NR_073450.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK300724, AK314089, AL020991, AL049732, JQ425694

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

54932961..54998789 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442158.1 → XP_047298114.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X6
XM_024452389.2 → XP_024308157.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X5

UniProtKB/TrEMBL

Q4VBA8

Conserved Domains (2) summary

pfam01591
Location:11 → 228

6PF2K; 6-phosphofructo-2-kinase

pfam00300
Location:231 → 417

His_Phos_1; Histidine phosphatase superfamily (branch 1)
XM_047442157.1 → XP_047298113.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X2
XM_017029576.2 → XP_016885065.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X1

UniProtKB/TrEMBL

Q4VBA8
XM_017029578.2 → XP_016885067.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X4

UniProtKB/TrEMBL

Q4VBA8
XM_017029577.2 → XP_016885066.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X3

UniProtKB/TrEMBL

Q4VBA8

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

54226089..54293383 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054327186.1 → XP_054183161.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X2
XM_054327189.1 → XP_054183164.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X5
XM_054327190.1 → XP_054183165.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X6
XM_054327185.1 → XP_054183160.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X1
XM_054327188.1 → XP_054183163.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X4
XM_054327187.1 → XP_054183162.1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 isoform X3