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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PFKM Gene

protein-coding GIFtS: 69
GCID: GC12P048501

phosphofructokinase, muscle

(Previous names: phosphofructokinase, polypeptide X )
(Previous symbol: PFKX)

Explore 24 diseases affiliated with
PFKM via

MalaCards

our new
Human Malady Compendium

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

Aliases
Phosphofructokinase, Muscle¹ ²		6-Phosphofructo-1-Kinase¹
PFKX¹ ² ³		6-Phosphofructokinase, Muscle Type²
PFK-1¹ ²		PFK1²
Phosphofructokinase, Polypeptide X¹ ²		PFKA²
Phosphofructo-1-Kinase Isozyme A² ³		Phosphofructokinase-M³
Phosphofructokinase 1² ³		Phosphohexokinase³
PFK-A² ³		Phosphofructokinase-M³
EC 2.7.1.11³ ⁸		Phosphohexokinase³
GSD7² ⁵		EC 2.7.1⁸

External Ids:	HGNC: 8877¹	Entrez Gene: 5213²	Ensembl: ENSG00000152556⁷	OMIM: 610681⁵	UniProtKB: P08237³

Export aliases for PFKM gene to outside databases

Previous GC identifers: GC12P048525 GC12P048412 GC12P048229 GC12P046802 GC12P046788 GC12P046785 GC12P045531

(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 PFKM:

Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of

the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to

fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type

isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui

disease. Alternatively spliced transcript variants have been described.(provided by RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237

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 PFKM

(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)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PFKM gene promoter:
HOXA9B HOXA9 AP-1 ATF-2 FOXD1 CUTL1 STAT5A c-Jun Meis-1a Meis-1
Other transcription factors

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

Search SABiosciences Chromatin IP Primers for PFKM

Epigenetics:

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

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

Entrez Gene cytogenetic band: 12q13.3 Ensembl cytogenetic band: 12q13.11 HGNC cytogenetic band: 12q13.11

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

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P048501: view genomic region (about GC identifiers)

Start:	48,498,922 bp from pter	End:	48,540,187 bp from pter
Size:	41,266 bases	Orientation:	plus strand

(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: K6PF_HUMAN, P08237 (See protein sequence)

Recommended Name: 6-phosphofructokinase, muscle type

Size: 780 amino acids; 85183 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

Secondary accessions: J3KNX3 Q16814 Q16815 Q6ZTT1

Alternative splicing: 3 isoforms: P08237-1 P08237-2 P08237-3 (No experimental confirmation available. Ref.4 (BAC86498) sequence is in conflict in position: 2:H->L)

Explore the universe of human proteins at neXtProt for PFKM: NX_P08237

Post-translational modifications:

GlcNAcylation decreases enzyme activity (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P08237

4/44 DME Specific Peptides for PFKM (P08237) (see all 44)

HAHLEHI

RVTVLGH

VLTSGGD

TLGIGKA

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

REFSEQ proteins (4 alternative transcripts):

NP_000280.1 NP_001160158.1 NP_001160159.1 NP_001160160.1

ENSEMBL proteins:

ENSP00000450369 ENSP00000449835 ENSP00000446945 ENSP00000446829 ENSP00000447997

ENSP00000345771 ENSP00000447992 ENSP00000450173 ENSP00000449622 ENSP00000448940

ENSP00000448018 ENSP00000352842 ENSP00000448318 ENSP00000447774 ENSP00000448315

ENSP00000448253 ENSP00000449269 ENSP00000448177 ENSP00000446805 ENSP00000449426

ENSP00000446519 ENSP00000446740 ENSP00000450091 ENSP00000378656 ENSP00000309438

Reactome Protein details: P08237
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for PFKM
	Uscn Proteins for PFKM

Gene Ontology (GO): 4 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	6444532
GO:0016324	apical plasma membrane	IDA	12649290

PFKM for ontologies About GeneDecksing

PFKM Antibody Products:

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	ThermoFisher Antibodies for PFKM

Assay Products for PFKM:

	Browse Kits and Assays available from EMD Millipore
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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PFKM

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

PFKM 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 P08237

ProtoNet protein and cluster: P08237

1 Blocks protein family: IPB000023 Phosphofructokinase

UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237

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: K6PF_HUMAN, P08237

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

Genatlas biochemistry entry for PFKM:

6-phosphofructo-1-kinase,expressed in muscle,previously assigned to chr 1,fructose metabolism,energy pathway

Enzyme Numbers (IUBMB): EC 2.7.1.11¹ ² EC 2.7.1²

miRNA Products:		OriGene 3'-UTR Clone: PFKM Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PFKM
		8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate PFKM (see all 24):
		hsa-miR-320a hsa-miR-128 hsa-miR-3133 hsa-miR-3916 hsa-miR-3125 hsa-miR-320e hsa-miR-591 hsa-miR-542-3p

		SwitchGear 3'UTR luciferase reporter plasmid: PFKM 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PFKM (see all 7) OriGene shRNA RFP: PFKM OriGene siRNA: PFKM
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for PFKM

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKM

Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003872	6-phosphofructokinase activity	ISS	--
GO:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IDA	8780720
GO:0008022	protein C-terminus binding	IPI	12649290
GO:0008443	phosphofructokinase activity	--	--

PFKM for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for PFKM:

Actin fiber cells

Decreased 12E8 tau but not tot

Increased apoptosis

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-out Pfkm^tm1Fbos for PFKM
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Pfkm):

cardiovascular system	endocrine/exocrine gland	hematopoietic system	homeostasis/metabolism	immune system
mortality/aging	muscle

PFKM 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 - 5/12 super-pathways (see all 12) 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

AMPK Enzyme Complex Pathway

AMPK Enzyme Complex Pathway

1.00

Akt Signaling

Akt Signaling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for PFKM

Glycolysis and gluconeogenesis (short map)

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PFKM

	AMPK Enzyme Complex Pathway
	Akt Signaling

1 GeneGo (Thomson Reuters) Pathway for PFKM

Glycolysis and gluconeogenesis (short map)

4 BioSystems Pathways for PFKM

	Glycolysis and Gluconeogenesis
	Insulin Signaling
	glycolysis I
	Validated targets of C-MYC transcriptional activation

4 Reactome Pathways for PFKM

	Metabolism of carbohydrates
	Metabolism
	Glucose metabolism
	Glycolysis

5 Kegg Pathways (Kegg details for PFKM):

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

UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237

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

step 3/4

PFKM for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PFKM

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

5/791 Interacting proteins for PFKM (P08237^{1, 2, 3} ENSP00000352842⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 791)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM1	P62158³	I2D: score=1
CALM2	P62158³	I2D: score=1
CALM3	P62158³	I2D: score=1
PFKL	P17858¹^,³, ENSP00000269848⁴	EBI-514788,EBI-487243 I2D: score=4 STRING: ENSP00000269848
SUMO1	P63165²^,³, ENSP00000376076⁴	MINT-7947479 I2D: score=1 STRING: ENSP00000376076

About this table

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11): 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	6444532
GO:0006006	glucose metabolic process	TAS	--
GO:0006096	glycolysis	TAS	--
GO:0030388	fructose 1,6-bisphosphate metabolic process	--	--

PFKM 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

PFKM for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PFKM

10/16 HMDB Compounds for PFKM (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	--

10/11 Novoseek chemical compound relationships for PFKM gene (see all 11) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glycogen	59.1	6	14718702 (1), 10438462 (1), 7603532 (1), 1826293 (1) (see all 6)
phosphocreatine	36.4	1	9829278 (1)
carnitine	22.6	2	1826293 (1), 12149506 (1)
atp	20.9	1	10438462 (1)
lactate	20.2	3	8482676 (1), 12149506 (1)
pyruvate	19.7	1	10438462 (1)
glucose	19.4	10	14718702 (1), 7603532 (1), 12217956 (1), 8764833 (1) (see all 9)
creatinine	10.2	1	10438462 (1)
alanine	4.69	1	19218242 (1)
lipid	0	1	7603532 (1)

Search CenterWatch for drugs/clinical trials and news about PFKM / K6PF

(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 PFKM gene (4 alternative transcripts):

NM_000289.5 NM_001166686.1 NM_001166687.1 NM_001166688.1

Unigene Cluster for PFKM:

Phosphofructokinase, muscle

Hs.75160 [show with all ESTs]

Unigene Representative Sequence: AK126020

18/32 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 32):

ENST00000550345 ENST00000549003 ENST00000550924 ENST00000549941 ENST00000550257

ENST00000340802(uc001rrb.2) ENST00000547581(uc001rra.2) ENST00000546755

ENST00000549366 ENST00000552792 ENST00000548288 ENST00000359794 ENST00000547066

ENST00000546964(uc001rrd.3) ENST00000548720 ENST00000552989 ENST00000551548

ENST00000551485

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		8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate PFKM (see all 24):
		hsa-miR-320a hsa-miR-128 hsa-miR-3133 hsa-miR-3916 hsa-miR-3125 hsa-miR-320e hsa-miR-591 hsa-miR-542-3p

		SwitchGear 3'UTR luciferase reporter plasmid: PFKM 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA sequence:

AK126020.1 AK126229.1 AK303681.1 AK308185.1 AK312284.1 BC000534.2 BC007798.2 BC012799.2

BC013298.2 BC021203.2 CR541698.1 D21861.1 J05533.1 M26066.1 U24183.1 Y00698.1

24/35 DOTS entries (see all 35):

DT.95200400 DT.100821887 DT.453195 DT.95227048 DT.100821891 DT.95227047 DT.100821889 DT.451936

DT.102830750 DT.101968062 DT.100821888 DT.121130909 DT.95239472 DT.100821896 DT.101968583 DT.121130726

DT.121130748 DT.91766939 DT.91766943 DT.95227041 DT.95227049 DT.100774897 DT.100821892 DT.102830751

24/459 AceView cDNA sequences (see all 459):

AA346302 BQ073492 BQ425020 J05533 BC021203 AA152157 BQ640633 CF125640

Y00698 BU683561 AV707835 BG612308 AL045056 F36248 BM771640 BG576034

BG056794 BU178090 AK126229 BQ073813 BE887098 BG392823 BI871662 BQ214754

GeneLoc Exon Structure

5/17 Alternative Splicing Database (ASD) splice patterns (SP) for PFKM (see all 17) About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	·	6c	·	6d	·	6e	·	6f	^	7	^	8a	·	8b	·	8c	^	9a	·	9b	·	9c	^	10a	·	10b	^	11a	·	11b	^	12	^	13	^	14a	·
SP1:																					-		-		-		-		-		-																-		-
SP2:																					-		-		-		-		-		-																-		-
SP3:																																															-		-
SP4:			-		-		-		-		-		-		-		-		-		-		-		-		-		-		-																-		-
SP5:																					-		-		-		-		-		-														-		-		-		-

ExUns:	14b	·	14c	·	14d	^	15a	·	15b	·	15c	^	16	^	17a	·	17b	^	18a	·	18b	^	19	^	20a	·	20b	·	20c	^	21a	·	21b	^	22	^	23	^	24	^	25	^	26	^	27	^	28	^	29	^	30	^
SP1:																									-								-
SP2:																									-								-
SP3:																							-		-								-
SP4:
SP5:

ExUns:	31	^	32
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for PFKM

(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

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

About this image
See PFKM Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PFKM

SOURCE GeneReport for Unigene cluster: Hs.75160

SABiosciences Custom PCR Arrays for PFKM

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PFKM Browse OriGene validated miRNA SYBR primer pairs
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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 PFKM gene from 9/30 species (see all 30) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PFKM¹	phosphofructokinase, muscle	75.94(n) 84.11(a)		374064 NM_204223.1 NP_989554.2
lizard (Anolis carolinensis)	Reptilia	PFKM⁶	--	85(a)	1 ↔ 1	GL343536.1(124076-163929)
African clawed frog (Xenopus laevis)	Amphibia	BC045100.1²	--	75.32(n)		BC045100.1
zebrafish (Danio rerio)	Actinopterygii	pfkma¹	phosphofructokinase, muscle a	71.74(n) 79.79(a)		447836 NM_001004575.1 NP_001004575.1
fruit fly (Drosophila melanogaster)	Insecta	Pfk^{1 , 3}	glycolysis 6-phosphofructokinase³ Phosphofructokinase¹	54(a)³ 60.91(n)¹ 60.86(a)¹		36060¹ NM_165747.3¹ NP_724891.2¹
worm (Caenorhabditis elegans)	Secernentea	Y71H10A.1a³ Y71H10A.1¹	phosphofructokinase³ Protein Y71H10A.1¹	56(a) (best of 3)³ 57.17(n)¹ 56.82(a)¹		X(2976190-2980515)³ 180583¹ NM_171643.2¹ NP_741738.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	PFK2⁶ PFK1⁶ (see all 11)	6-phosphofructokinase 1 (see all 11)	17(a) 16(a) (see all 11)	possible ortholog possible ortholog (see all 11)	5(19356356-19358125) 4(14403347-14406592)
rice (Oryza sativa)	Liliopsida	-- -- (see all 15)	phosphofructokinase, putative, expressed (see all 15)	18(a) 16(a) (see all 15)	possible ortholog possible ortholog (see all 15)	4(23278212-23280588) 9(18410577-18412164)
E. coli (Escherichia coli)	Gamma proteobacteria	pfkA⁶	6-phosphofructokinase I	39(a)	1 → many	Chromosome(4105575-4106537)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PFKM gene

PFKP² PFKL²

11 SIMAP similar genes for PFKM using alignment to 23 protein entries: K6PF_HUMAN F8VP00_HUMAN F8VW30_HUMAN F8W1J8_HUMAN Q96I60_HUMAN F8VSL1_HUMAN F8VTT5_HUMAN H0YHB8_HUMAN Q7KYX9_HUMAN F8VSF7_HUMAN H0YIS9_HUMAN P78457_HUMAN F8VNZ1_HUMAN F8VVE3_HUMAN F8VSF5_HUMAN F8VZQ1_HUMAN F8VTQ3_HUMAN F8VZ53_HUMAN F8VYK8_HUMAN F8VZI0_HUMAN F8VNX2_HUMAN F8VX13_HUMAN F8VUB8_HUMAN(see first protein):

DKFZp779O048 PKP2 PFKP PFK-P DKFZp686L2097 GART

DKFZp686G1648 PS1TP6 PFKL DKFZp666K083 PHACTR1

PFKM 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)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121918193^1,2	C	pathogenic	48524176(+)	`GGTTCA/C/G/T AGTTG`	16	Q P R L	mis¹		0	--	--	--	--
rs145594857^1,2		--	48497678(+)	`TGTCTA/GGGGCT`	5	--	us2k¹ int¹		0	--	--	--	--
rs55820056^1,2	C,F,	--	48497737(+)	`ACACCA/TGTAAT`	5	--	int¹ us2k¹		4		NA WA CSA	7
rs145419320^1,2		--	48497742(+)	`TGTAAC/TCCCAG`	5	--	int¹ us2k¹		0	--	--	--	--
rs138011832^1,2		--	48497772(+)	`GGGCAA/GATCAC`	5	--	int¹ us2k¹		0	--	--	--	--
rs189139263^1,2		--	48497830(+)	`CTCTAC/GGAAAA`	5	--	int¹ us2k¹		0	--	--	--	--
rs181311491^1,2		--	48497918(+)	`GAACCC/TGGGAG`	5	--	int¹ us2k¹		0	--	--	--	--
rs71747947^1,2	C,	--	48498018(+)	`TATAT-/AGAGAGA`	5	--	int¹ us2k¹		0	--	--	--	--
rs58280906^1,2	C	--	48498019(+)	`ATATAT/GAGAGA`	5	--	us2k¹ int¹		2		WA CSA	4
rs185381451^1,2		--	48498066(+)	`GGGAGA/GGAGAG`	5	--	us2k¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PFKM (48498922 - 48540187 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PFKM
2 CNVs: 30600 3888
Human Gene Mutation Database (HGMD): PFKM

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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

PFKM for disorders           About GeneDecksing

OMIM gene information: 610681
OMIM disorders: 232800
UniProtKB/Swiss-Prot: K6PF_HUMAN, P08237

Defects in PFKM are the cause of glycogen storage disease type 7 (GSD7) [MIM:232800]; also known as Tarui

disease. GSD7 is an autosomal recessive disorder characterized by exercise intolerance with associated nausea and

vomiting. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop

after vigorous exercise. Most patients obtain a "second wind" when the onset of exercise is followed by a brief rest

period. In time patients adjust their activity level and are well compensated

20/24 diseases for PFKM (see all 24): About MalaCards

glycogen storage disease glycogen storage disease vii phosphoglycerate kinase deficiency lactic acidosis

hyperuricemia hemolytic anemia down syndrome insulin resistance

cramps gastric ulcer myopathy anemia

seizures pharyngitis breast cancer pneumonia

cholesterol hypoxia arthritis schizophrenia

1 disease from the University of Copenhagen DISEASES database for PFKM:

Glycogen storage disease

9 Novoseek disease relationships for PFKM gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phosphofructokinase deficiency	98.8	60	1824792 (4), 14718702 (3), 17608317 (3), 8659544 (2) (see all 29)
mcardles disease	84.9	8	14718702 (1), 10809925 (1), 9541495 (1), 2018547 (1) (see all 5)
myopathy	67.5	5	8659544 (1), 7479776 (1), 7825568 (1), 1394261 (1) (see all 5)
hemolysis	54.9	4	8785459 (2), 7603526 (1), 7550225 (1)
hyperuricemia	53	1	1838230 (1)
mitochondrial diseases	34.9	1	7603532 (1)
down syndrome	21.4	2	15793789 (1)
acidosis	17.2	1	9541495 (1)
niddm	0	4	8661033 (1)

Human Genome Epidemiology (HuGE) Navigator: PFKM (4 documents)

Export disorders for PFKM 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)
About This Section

PubMed articles for PFKM gene, integrated from 9 sources (see all 120):
(articles sorted by number of sources associating them with PFKM)

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

Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. (PubMed id 7513946)^{1, 2, 9} Tsujino S.... DiMauro S. (1994)
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. (PubMed id 7825568)^{1, 2, 9} Raben N....Heinisch J.J. (1995)
Mutations in muscle phosphofructokinase gene. (PubMed id 7550225)^{1, 2, 9} Raben N. and Sherman J.B. (1995)
Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. (PubMed id 1833270)^{1, 2, 9} Yamasaki T.... Tarui S. (1991)
Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase. (PubMed id 2140567)^{1, 2, 9} Sharma P.M.... McLachlan A. (1990)
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)
Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII. (PubMed id 8889589)^{1, 2} Hamaguchi T.... Matsuzawa Y. (1996)
Cloning and expression of a human muscle phosphofructokinase cDNA. (PubMed id 2526045)^{1, 2} Sharma P.M.... McLachlan A. (1989)
Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon. (PubMed id 2526044)^{1, 2} Valdez B.C.... Chang S.H. (1989)
Cloning of human muscle phosphofructokinase cDNA. (PubMed id 2822475)^{1, 2} Nakajima H.... Tarui S. (1987)

(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: 5213	HGNC: 8877	AceView: PFKM	Ensembl:ENSG00000152556	euGenes: HUgn5213
ECgene: PFKM	Kegg: 5213	H-InvDB: PFKM

(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 PFKM	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PFKM

Intellectual Property for PFKM 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 PFKM gene:
Search GeneIP for patents involving PFKM

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

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phosphofructokinase, muscle

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