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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PFKL Gene

protein-coding GIFtS: 70
GCID: GC21P045719

phosphofructokinase, liver

Explore 20 diseases affiliated with
PFKL via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, and/or ¹¹Nature:405,311-319 and CroW21)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Phosphofructokinase, Liver¹ ²		6-Phosphofructokinase, Liver Type²
Phosphofructo-1-Kinase Isozyme B² ³		Liver-Type 1-Phosphofructokinase²
Phosphofructokinase 1² ³		Phosphohexokinase³
PFK-B² ³		Phosphohexokinase³
EC 2.7.1.11³ ⁸		EC 2.7.1⁸
Human Liver-Type 1-Phosphofructokinase, EC 2.7.1.1111

External Ids:	HGNC: 8876¹	Entrez Gene: 5211²	Ensembl: ENSG00000141959⁷	OMIM: 171860⁵	UniProtKB: P17858³

ORGUL members:
	NONCODE:n406590

Export aliases for PFKL gene to outside databases

Previous GC identifers: GC21P042229 GC21P044576 GC21P044544 GC21P031062

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PFKL:

Phosphofructokinase (PFK) is a tetrameric enzyme that catalyzes a key step in glycolysis, namely the conversion of

D-fructose 6-phosphate to D-fructose 1,6-bisphosphate. Separate genes encode a muscle subunit (M) and a liver subunit

(L). PFK from muscle is a homotetramer of M subunits, PFK from liver is a homotetramer of L-subunits, while PFK from

platelets can be composed of any tetrameric combination of M and L subunits. The protein encoded by this gene

represents the L subunit. Alternate splicing results in two transcript variants, one of which is a candidate for

nonsense-mediated decay (NMD). (provided by RefSeq, Aug 2008)

UniProtKB/Swiss-Prot: K6PL_HUMAN, P17858

Function: Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to generate

fructose-1,6-bisphosphate (FBP) and ADP

Gene Wiki entry for PFKL

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

RefSeq DNA sequence:

NC_000021.8 NC_018932.1 NT_011515.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PFKL gene promoter:
AP-1 ATF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): PFKL promoter sequence

Search SABiosciences Chromatin IP Primers for PFKL

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PFKL

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3 Ensembl cytogenetic band: 21q22.3 HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band: 21q22.3

PFKL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PFKL gene location

GeneLoc information about chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21P045719:	GeneLoc	Nature:405,311-319
Start:	45,719,925 bp from pter	31,229,326 bp from centromere
End:	45,747,261 bp from pter	31,256,648 bp from centromere
Size:	27,337 bases	27,323 bases
Orientation:	plus strand	plus strand

Whole chromosome sequencing:
cDNA sequence:	X15573
genomic clones:	KUD4G11 to Q5B10

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: K6PL_HUMAN, P17858 (See protein sequence)

Recommended Name: 6-phosphofructokinase, liver type

Size: 780 amino acids; 85018 Da

Cofactor: Magnesium

Subunit: Tetramer. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3

Miscellaneous: In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet)

isoenzymes

Miscellaneous: Glycosylation may play a role in cancer cell proliferation: inhibition of 6-phosphofructokinase

acitivity and subsequent redirection of the glucose flux through the oxidative pentose phosphate pathway confers a

selective growth advantage on cancer cells. Moreover GlcNAcylation is observed in multiple cancer cell lines and

tissue samples and GlcNAcylation leads to larger xenografts tunors in mice (PubMed:22923583)

Secondary accessions: Q96A64 Q96IH4 Q9BR91

Alternative splicing: 2 isoforms: P17858-1 P17858-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PFKL: NX_P17858

Post-translational modifications:

GlcNAcylation at Ser-529 by OGT decreases enzyme activity, leading to redirect glucose flux through the oxidative

pentose phosphate pathway. Glycosylation is stimulated by both hypoxia and glucose deprivation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P17858

4/31 DME Specific Peptides for PFKL (P17858) (see all 31)

GMNAAVR

PTPFDRN

RVTVLGH

QRGGTPS

PFKL Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002617.3

ENSEMBL proteins:

ENSP00000269848 ENSP00000381052 ENSP00000384038

Reactome Protein details: P17858
Human Recombinant Protein Products:

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	Uscn Proteins for PFKL

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005829	cytosol	TAS	--
GO:0005945	6-phosphofructokinase complex	IDA	6444721

PFKL for ontologies About GeneDecksing

PFKL Antibody Products:

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	Uscn ELISAs and CLIAs for PFKL

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PFKL for domains About GeneDecksing

4 InterPro domains/families:

IPR009161 6-phosphofructokinase_euk

IPR022953 Phosphofructokinase

IPR015912 Phosphofructokinase_CS

IPR000023 Phosphofructokinase_dom

Graphical View of Domain Structure for InterPro Entry P17858

ProtoNet protein and cluster: P17858

1 Blocks protein family: IPB000023 Phosphofructokinase

UniProtKB/Swiss-Prot: K6PL_HUMAN, P17858

Similarity: Belongs to the phosphofructokinase family. Two domains subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: K6PL_HUMAN, P17858

Function: Catalyzes the third step of glycolysis, the phosphorylation of fructose-6-phosphate (F6P) by ATP to generate

fructose-1,6-bisphosphate (FBP) and ADP

Catalytic activity: ATP + D-fructose 6-phosphate = ADP + D-fructose 1,6-bisphosphate

Enzyme regulation: Allosteric enzyme activated by ADP, AMP, or fructose bisphosphate and inhibited by ATP or citrate.

GlcNAcylation by OGT overcomes allosteric regulation

Genatlas biochemistry entry for PFKL:

6-phosphofructo-1-kinase,expressed in liver,fructose metabolism,energy patway

Enzyme Numbers (IUBMB): EC 2.7.1.11¹ ² EC 2.7.1²

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		hsa-miR-128 hsa-miR-3681*
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKL

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003872	contributes to 6-phosphofructokinase activity	IMP	6227635
GO:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IDA	8780720
GO:0019900	kinase binding	IPI	6444721
GO:0042802	identical protein binding	IPI	6444721

PFKL for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for PFKL:

Decreased viability of wild-ty

Increased cell death HMECs cel

Animal Models:
4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pfkl):

homeostasis/metabolism

integument

mortality/aging

nervous system

PFKL for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glycolysis and gluconeogenesis (short map)

	Glycolysis and gluconeogenesis (short map)	1.00			Glycolysis and Gluconeogenesis	0.60
	Glycolysis and gluconeogenesis (short map)	0.97			Glycolysis / Gluconeogenesis	0.41

Glucose metabolism

Glucose metabolism

1.00

Glycolysis

0.44

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

AMPK Enzyme Complex Pathway

AMPK Enzyme Complex Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for PFKL

Glycolysis and gluconeogenesis (short map)

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PFKL

	AMPK Enzyme Complex Pathway
	Akt Signaling

1 Cell Signaling Technology (CST) Pathway for PFKL

Glucose / Energy Metabolism

1 GeneGo (Thomson Reuters) Pathway for PFKL

Glycolysis and gluconeogenesis (short map)

4 BioSystems Pathways for PFKL

	Insulin Signaling
	Glycolysis and Gluconeogenesis
	HIF-1-alpha transcription factor network
	glycolysis I

4 Reactome Pathways for PFKL

	Metabolism of carbohydrates
	Metabolism
	Glucose metabolism
	Glycolysis

5 Kegg Pathways (Kegg details for PFKL):

	Glycolysis / Gluconeogenesis
	Pentose phosphate pathway
	Fructose and mannose metabolism
	Galactose metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: K6PL_HUMAN, P17858

Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose:

step 3/4

PFKL for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PFKL

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/174 Interacting proteins for PFKL (P17858^{1, 2, 3} ENSP00000269848⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 174)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PFKM	P08237¹^,³, ENSP00000352842⁴	EBI-487243,EBI-514788 I2D: score=4 STRING: ENSP00000352842
PRPF40A	O75400²^,³	MINT-61849 I2D: score=5
COPS6	Q7L5N1²^,³	MINT-63521 I2D: score=4
IKBKE	Q14164²^,³	MINT-48115 I2D: score=2
MAP3K3	Q99759²^,³	MINT-48463 I2D: score=2

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006002	fructose 6-phosphate metabolic process	IMP	6227635
GO:0006006	glucose metabolic process	TAS	--
GO:0006096	glycolysis	TAS	--
GO:0009749	response to glucose stimulus	IDA	--

PFKL for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PFKL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PFKL

10/16 HMDB Compounds for PFKL (see all 16) About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Beta-D-Fructose 6-phosphate	beta-D-Fructose 6-phosphate (see all 2)	--	--
CDP	CDP (see all 3)	63-38-7	--
Cytidine triphosphate	cytidine 5'-(tetrahydrogen triphosphate) (see all 15)	65-47-4	--
D-Tagatose 1,6-bisphosphate	1,6-di-O-phosphono-D-tagatofuranose	--	--
D-Tagatose 6-phosphate	6-O-phosphono-D-tagatofuranose (see all 2)	--	--
Fructose 1,6-bisphosphate	D-Fructose 1,6-biphosphate (see all 16)	488-69-7	--
Fructose 6-phosphate	D-Fructose 6-phosphate (see all 13)	643-13-0	--
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--

3 Novoseek chemical compound relationships for PFKL gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pyruvate	31.1	1	9166680 (1)
lactate	10.6	2	8089148 (1), 12149506 (1)
glucose	3.59	2	16413217 (1)

Search CenterWatch for drugs/clinical trials and news about PFKL / K6PL

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PFKL gene (2 alternative transcripts):

NM_002626.4 NM_001002021.1

Unigene Cluster for PFKL:

Phosphofructokinase, liver

Hs.255093 [show with all ESTs]

Unigene Representative Sequence: AB209127

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000349048(uc002zel.3) ENST00000397961(uc011afd.1 uc002zek.3)

ENST00000496824 ENST00000466134(uc002zem.3) ENST00000491298 ENST00000474114(uc002zen.3)

ENST00000498841 ENST00000460020 ENST00000467315 ENST00000460521 ENST00000495274

ENST00000403390

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PFKL
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate PFKL:
		hsa-miR-128 hsa-miR-3681*
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Additional cDNA sequence:

AB209127.1 AF086180.1 AF147333.1 AK091488.1 AK303605.1 AK308437.1 BC004920.2 BC006422.1

BC007536.1 BC008964.2 BC009919.2 BC018295.1 NR_024108.1 X15573.1

24/40 DOTS entries (see all 40):

DT.91804895 DT.100827225 DT.100827218 DT.91761372 DT.100827227 DT.121135849 DT.100827223 DT.95232798

DT.100827210 DT.100827214 DT.100827230 DT.95301071 DT.121135819 DT.95123668 DT.100827215 DT.121135787

DT.87018334 DT.100039589 DT.100827213 DT.100827216 DT.121135871 DT.91831014 DT.91903563 DT.92021980

24/637 AceView cDNA sequences (see all 637):

BQ049345 BQ933233 AL556110 BI334483 AL583663 CF146188 BM710244 BQ923338

BG395880 AW673487 BM793156 BU174259 BM696346 BU621292 CD615223 BU149125

BC006422 AI244438 AU117816 BG250839 BM559164 BQ641571 BQ233666 BM720794

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for PFKL (see all 18) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10a	·	10b	^	11	^	12	^	13a	·	13b	^	14a	·	14b	^	15a	·	15b	^	16	^	17a	·	17b	^	18a	·
SP1:									-								-																																		-
SP2:							-		-		-		-				-																																		-
SP3:							-		-		-		-				-																																		-
SP4:							-		-		-		-				-
SP5:

ExUns:	18b	·	18c	^	19a	·	19b	·	19c	·	19d	^	20	^	21	^	22a	·	22b	·	22c	^	23a	·	23b	^	24	^	25a	·	25b	·	25c	·	25d	^	26a	·	26b	·	26c	^	27	^	28a	·	28b	·	28c	·	28d
SP1:	-				-												-																-		-		-
SP2:	-				-												-																-		-		-
SP3:	-				-												-																-		-		-
SP4:					-												-																-		-
SP5:					-												-																-		-		-

ECgene alternative splicing isoforms for PFKL

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PFKL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCCAGCCCT

About this image

PFKL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

8 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Hindgut

Hindgut Endoderm Cells

Endoderm

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Head Mesenchyme

Branchial Arch 1

Cranial Neural Crest Cells

Neural Crest

Adipose

Interscapular Brown Adipose Depot

Adipose

Thoracic Perivascular Adipose

Adipose

Bone

Gut Tube

Gut Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

See PFKL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PFKL

SOURCE GeneReport for Unigene cluster: Hs.255093

SABiosciences Expression via Pathway-Focused PCR Arrays including PFKL:

Cancer PathwayFinder in human mouse rat

Hypoxia Signaling Pathway in human mouse rat

Glucose Metabolism in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for PFKL gene from 9/33 species (see all 33) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PFKL¹	phosphofructokinase, liver	82.83(n) 87.13(a)		769850 XM_001232620.2 XP_001232621.2
lizard (Anolis carolinensis)	Reptilia	PFKL⁶	--	88(a)	1 ↔ 1	3(33629622-33673706)
zebrafish (Danio rerio)	Actinopterygii	BI840827.1²	--	80.27(n)		336347 BI840827.1
fruit fly (Drosophila melanogaster)	Insecta	Pfk³	glycolysis 6-phosphofructokinase	51(a)		--
worm (Caenorhabditis elegans)	Secernentea	Y71H10A.1a³	phosphofructokinase	56(a) (best of 3)		X(2976190-2980515) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	PFK2(YMR205C)⁴ PFK2¹	Beta subunit of heterooctameric phosphofructokinase more⁴ Pfk2p¹	49.43(n)¹ 46.24(a)¹		13(674766-671887)⁴ 855245^{1, 4} NP_013932.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	PFK6⁶ PFK1⁶ (see all 11)	6-phosphofructokinase 1 (see all 11)	18(a) 17(a) (see all 11)	possible ortholog possible ortholog (see all 11)	4(15844780-15848441) 4(14403347-14406592)
rice (Oryza sativa)	Liliopsida	-- -- (see all 15)	phosphofructokinase, putative, expressed (see all 15)	18(a) 15(a) (see all 15)	possible ortholog possible ortholog (see all 15)	4(23278212-23280588) 10(13777741-13782253)
E. coli (Escherichia coli)	Gamma proteobacteria	pfkA⁶	6-phosphofructokinase I	40(a)	1 → many	Chromosome(4105575-4106537) b3916

ENSEMBL Gene Tree for PFKL (if available)
TreeFam Gene Tree for PFKL (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PFKL gene

PFKP² PFKM²

6 SIMAP similar genes for PFKL using alignment to 4 protein entries: K6PL_HUMAN (see all proteins):

DKFZp686G1648 DKFZp686L2097 DKFZp779O048 PFK-P PFKP PFKM

PFKL for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 21 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74448260^1,2	F,	--	45718659(+)	`TTCTGC/TATTTT`	2	--	us2k¹		1		NA	120
rs184285577^1,2		--	45718729(+)	`AGTGCA/GATGGC`	2	--	us2k¹		0	--	--	--	--
rs143182917^1,2		--	45718731(+)	`TGCAAC/TGGCGC`	2	--	us2k¹		0	--	--	--	--
rs146682713^1,2		--	45718734(+)	`AATGGC/TGCAGT`	2	--	us2k¹		0	--	--	--	--
rs189192114^1,2		--	45718777(+)	`CAAGTA/GATTCT`	2	--	us2k¹		0	--	--	--	--
rs9975195^1,2	C,	--	45718911(+)	`tcagaA/Cctcag`	2	--	us2k¹		0	--	--	--	--
rs9975203^1,2	C	--	45718937(+)	`cccccC/Gccccc`	2	--	us2k¹ trp³		1		NA	2
rs9975207^1,2	C,A	--	45718942(+)	`CCCCCA/CACCCC`	2	--	us2k¹ tfbs³ trp³		1		CSA	1
rs59475165^1,2	C,	--	45719081(+)	`CACAC-/ACAC GTGAT`	2	--	us2k¹		0	--	--	--	--
rs201667855^1,2		--	45719112(+)	`ACACA-/CGTGAT`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PFKL (45719925 - 45747261 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PFKL
1 CNV: 7327
1 Indel: 73649

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PFKL for disorders           About GeneDecksing

OMIM gene information: 171860    OMIM disorders: --

20 diseases for PFKL:    About MalaCards

hemolytic anemia due to phosphofructokinase deficiency autoimmune polyendocrine syndrome type 1 chronic mucocutaneous candidiasis autoimmune polyendocrine syndrome

hemolytic anemia down syndrome insulin resistance candidiasis

rheumatoid arthritis anemia arthritis myopathy

pharyngitis ataxia pneumonia cholesterol

hypoxia tuberculosis neuronitis mycobacterium tuberculosis

3 diseases from the University of Copenhagen DISEASES database for PFKL:

Progressive myoclonus epilepsy Down syndrome Autoimmune polyendocrine syndrome type 1

1 Novoseek disease relationship for PFKL gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
down syndrome	51.6	8	8172601 (2), 7987239 (2), 9813288 (1)

Genatlas disease: PFKL

hemolytic anemia

Human Genome Epidemiology (HuGE) Navigator: PFKL (3 documents)

Export disorders for PFKL gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PFKL gene, integrated from 9 sources (see all 61):
(articles sorted by number of sources associating them with PFKL)

Utopia: connect your pdf to the dynamic
world of online information

Phosphofructokinase 1 glycosylation regulates cell gro wth and metabolism. (PubMed id 22923583)^{1, 2} Yi W....Hsieh-Wilson L.C. (2012)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{1, 2} Gevaert K.... Vandekerckhove J. (2003)
The DNA sequence of human chromosome 21. (PubMed id 10830953)^{1, 2} Hattori M....Yaspo M.L. (2000)
The structure of the human liver-type phosphofructokinase gene. (PubMed id 2139864)^{1, 2} Elson A.... Groner Y. (1990)
The primary structure of human liver type phosphofructokinase and its comparison with other types of PFK. (PubMed id 2533063)^{1, 2} Levanon D.... Groner Y. (1989)
Physiogenomic comparison of human fat loss in response to diets restrictive of carbohydrate or fat. (PubMed id 18254975)^{1, 9} Seip R.L....Ruano G. (2008)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Host cell interactome of HIV-1 Rev includes RNA helica ses involved in multiple facets of virus production. (PubMed id 22174317)¹ Naji S....Gerace L. (2012)
A cohesin-RAD21 interactome. (PubMed id 22145905)¹ Panigrahi A.K....Pati D. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5211	HGNC: 8876	AceView: PFKL	Ensembl:ENSG00000141959	euGenes: HUgn5211
ECgene: PFKL	Kegg: 5211	H-InvDB: PFKL

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PFKL	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PFKL gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PFKL gene:
Search GeneIP for patents involving PFKL

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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