P08237 (K6PF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
6-phosphofructokinase, muscle type
EC=2.7.1.11

Alternative name(s):
Phosphofructo-1-kinase isozyme A
Short name=PFK-A
Short name=Phosphofructokinase-M
Phosphofructokinase 1
Phosphohexokinase

Gene names

Name:	PFKM
Synonyms:	PFKX

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	780 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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.
Cofactor	Magnesium.
Enzyme regulation	Allosteric enzyme activated by ADP, AMP, or fructose bisphosphate and inhibited by ATP or citrate.
Pathway	Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 3/4.
Subunit structure	Tetramer. Muscle is M4, liver is L4, and red cell is M3L, M2L2, or ML3.
Post-translational modification	GlcNAcylation decreases enzyme activity By similarity.
Involvement in disease	Glycogen storage disease 7 (GSD7) [MIM:232800]: A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.13 Ref.14
Miscellaneous	In human PFK exists as a system of 3 types of subunits, PFKM (muscle), PFKL (liver) and PFKP (platelet) isoenzymes.
Sequence similarities	Belongs to the phosphofructokinase family. Two domains subfamily.

Ontologies

Keywords
Biological process	Glycolysis
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Glycogen storage disease
Domain	Repeat
Ligand	ATP-binding Magnesium Metal-binding Nucleotide-binding
Molecular function	Kinase Transferase
PTM	Acetylation Glycoprotein Phosphoprotein
Technical term	Allosteric enzyme Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	fructose 6-phosphate metabolic process Inferred from direct assay PubMed 6444721. Source: BHF-UCL glycolysis Inferred from mutant phenotype PubMed 6444532. Source: UniProtKB muscle cell homeostasis Inferred from mutant phenotype PubMed 6444532. Source: BHF-UCL protein oligomerization Inferred from direct assay PubMed 6444721. Source: BHF-UCL small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	6-phosphofructokinase complex Inferred from direct assay PubMed 6444532PubMed 6444721. Source: UniProtKB apical plasma membrane Inferred from direct assay PubMed 12649290. Source: UniProtKB
Molecular_function	6-phosphofructokinase activity Inferred from direct assay PubMed 6444721PubMed 8780720. Source: UniProtKB ATP binding Inferred from direct assay PubMed 8780720. Source: BHF-UCL fructose binding Inferred from direct assay PubMed 8780720. Source: BHF-UCL metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
itself		2	EBI-514788,EBI-514788
PFKL	P17858	6	EBI-514788,EBI-487243

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P08237-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: P08237-2)

The sequence of this isoform differs from the canonical sequence as follows:
     282-312: Missing.

Isoform 3 (identifier: P08237-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MHKDEFHLKFFMCVIQSRQLVRTPQRTAGEASTSSMLIPKPPPKTDILKSLDTMDDPDTVGSIPVFKTEWIM

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed By similarity
	Chain	2 – 780	779	6-phosphofructokinase, muscle type		PRO_0000112016
Regions
	Nucleotide binding	35 – 39	5	ATP By similarity
	Nucleotide binding	193 – 197	5	ATP By similarity
	Nucleotide binding	210 – 226	17	ATP By similarity
Sites
	Active site	166	1	Proton acceptor By similarity
	Metal binding	224	1	Magnesium; via carbonyl oxygen By similarity
	Binding site	201	1	Substrate By similarity
	Binding site	292	1	Substrate By similarity
	Binding site	298	1	Substrate By similarity
	Binding site	301	1	Substrate By similarity
Amino acid modifications
	Modified residue	2	1	N-acetylthreonine By similarity
	Modified residue	667	1	Phosphoserine Ref.10
	Modified residue	775	1	Phosphoserine By similarity
	Glycosylation	530	1	O-linked (GlcNAc...) By similarity
Natural variations
	Alternative sequence	1	1	M → MHKDEFHLKFFMCVIQSRQL VRTPQRTAGEASTSSMLIPK PPPKTDILKSLDTMDDPDTV GSIPVFKTEWIM in isoform 3.		VSP_046125
	Alternative sequence	282 – 312	31	Missing in isoform 2.		VSP_004667
	Natural variant	39	1	R → L in GSD7; Ashkenazi.		VAR_006063
	Natural variant	39	1	R → P in GSD7; Italian. Ref.12		VAR_006064
	Natural variant	100	1	R → Q in GSD7; Swiss. Ref.13 Corresponds to variant rs2228500 [ dbSNP | Ensembl ].		VAR_006065
	Natural variant	209	1	G → D in GSD7; French Canadian. Ref.13		VAR_006066
	Natural variant	543	1	D → A in GSD7; Italian. Ref.12		VAR_006067
	Natural variant	686	1	W → C in GSD7; Japanese. Ref.14		VAR_006068
	Natural variant	696	1	R → H in GSD7; Swiss. Ref.13 Corresponds to variant rs41291971 [ dbSNP | Ensembl ].		VAR_006069
Experimental info
	Sequence conflict	670	1	P → S in BAC86498. Ref.4
Isoform 3:
	Sequence conflict	2	1	H → L in BAC86498. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2007. Version 2. Checksum: 769A2C01F97D1122	FASTA	780	85,183
	10 20 30 40 50 60 MTHEEHHAAK TLGIGKAIAV LTSGGDAQGM NAAVRAVVRV GIFTGARVFF VHEGYQGLVD 70 80 90 100 110 120 GGDHIKEATW ESVSMMLQLG GTVIGSARCK DFREREGRLR AAYNLVKRGI TNLCVIGGDG 130 140 150 160 170 180 SLTGADTFRS EWSDLLSDLQ KAGKITDEEA TKSSYLNIVG LVGSIDNDFC GTDMTIGTDS 190 200 210 220 230 240 ALHRIMEIVD AITTTAQSHQ RTFVLEVMGR HCGYLALVTS LSCGADWVFI PECPPDDDWE 250 260 270 280 290 300 EHLCRRLSET RTRGSRLNII IVAEGAIDKN GKPITSEDIK NLVVKRLGYD TRVTVLGHVQ 310 320 330 340 350 360 RGGTPSAFDR ILGSRMGVEA VMALLEGTPD TPACVVSLSG NQAVRLPLME CVQVTKDVTK 370 380 390 400 410 420 AMDEKKFDEA LKLRGRSFMN NWEVYKLLAH VRPPVSKSGS HTVAVMNVGA PAAGMNAAVR 430 440 450 460 470 480 STVRIGLIQG NRVLVVHDGF EGLAKGQIEE AGWSYVGGWT GQGGSKLGTK RTLPKKSFEQ 490 500 510 520 530 540 ISANITKFNI QGLVIIGGFE AYTGGLELME GRKQFDELCI PFVVIPATVS NNVPGSDFSV 550 560 570 580 590 600 GADTALNTIC TTCDRIKQSA AGTKRRVFII ETMGGYCGYL ATMAGLAAGA DAAYIFEEPF 610 620 630 640 650 660 TIRDLQANVE HLVQKMKTTV KRGLVLRNEK CNENYTTDFI FNLYSEEGKG IFDSRKNVLG 670 680 690 700 710 720 HMQQGGSPTP FDRNFATKMG AKAMNWMSGK IKESYRNGRI FANTPDSGCV LGMRKRALVF 730 740 750 760 770 780 QPVAELKDQT DFEHRIPKEQ WWLKLRPILK ILAKYEIDLD TSDHAHLEHI TRKRSGEAAV
	Isoform 2 [UniParc]. Checksum: FA4B5D6B077EDC8B	FASTA	749	81,776
	10 20 30 40 50 60 MTHEEHHAAK TLGIGKAIAV LTSGGDAQGM NAAVRAVVRV GIFTGARVFF VHEGYQGLVD 70 80 90 100 110 120 GGDHIKEATW ESVSMMLQLG GTVIGSARCK DFREREGRLR AAYNLVKRGI TNLCVIGGDG 130 140 150 160 170 180 SLTGADTFRS EWSDLLSDLQ KAGKITDEEA TKSSYLNIVG LVGSIDNDFC GTDMTIGTDS 190 200 210 220 230 240 ALHRIMEIVD AITTTAQSHQ RTFVLEVMGR HCGYLALVTS LSCGADWVFI PECPPDDDWE 250 260 270 280 290 300 EHLCRRLSET RTRGSRLNII IVAEGAIDKN GKPITSEDIK NGSRMGVEAV MALLEGTPDT 310 320 330 340 350 360 PACVVSLSGN QAVRLPLMEC VQVTKDVTKA MDEKKFDEAL KLRGRSFMNN WEVYKLLAHV 370 380 390 400 410 420 RPPVSKSGSH TVAVMNVGAP AAGMNAAVRS TVRIGLIQGN RVLVVHDGFE GLAKGQIEEA 430 440 450 460 470 480 GWSYVGGWTG QGGSKLGTKR TLPKKSFEQI SANITKFNIQ GLVIIGGFEA YTGGLELMEG 490 500 510 520 530 540 RKQFDELCIP FVVIPATVSN NVPGSDFSVG ADTALNTICT TCDRIKQSAA GTKRRVFIIE 550 560 570 580 590 600 TMGGYCGYLA TMAGLAAGAD AAYIFEEPFT IRDLQANVEH LVQKMKTTVK RGLVLRNEKC 610 620 630 640 650 660 NENYTTDFIF NLYSEEGKGI FDSRKNVLGH MQQGGSPTPF DRNFATKMGA KAMNWMSGKI 670 680 690 700 710 720 KESYRNGRIF ANTPDSGCVL GMRKRALVFQ PVAELKDQTD FEHRIPKEQW WLKLRPILKI 730 740 LAKYEIDLDT SDHAHLEHIT RKRSGEAAV
	Isoform 3 [UniParc]. Checksum: A09ABE529E682EC4	FASTA	851	93,254
	10 20 30 40 50 60 MHKDEFHLKF FMCVIQSRQL VRTPQRTAGE ASTSSMLIPK PPPKTDILKS LDTMDDPDTV 70 80 90 100 110 120 GSIPVFKTEW IMTHEEHHAA KTLGIGKAIA VLTSGGDAQG MNAAVRAVVR VGIFTGARVF 130 140 150 160 170 180 FVHEGYQGLV DGGDHIKEAT WESVSMMLQL GGTVIGSARC KDFREREGRL RAAYNLVKRG 190 200 210 220 230 240 ITNLCVIGGD GSLTGADTFR SEWSDLLSDL QKAGKITDEE ATKSSYLNIV GLVGSIDNDF 250 260 270 280 290 300 CGTDMTIGTD SALHRIMEIV DAITTTAQSH QRTFVLEVMG RHCGYLALVT SLSCGADWVF 310 320 330 340 350 360 IPECPPDDDW EEHLCRRLSE TRTRGSRLNI IIVAEGAIDK NGKPITSEDI KNLVVKRLGY 370 380 390 400 410 420 DTRVTVLGHV QRGGTPSAFD RILGSRMGVE AVMALLEGTP DTPACVVSLS GNQAVRLPLM 430 440 450 460 470 480 ECVQVTKDVT KAMDEKKFDE ALKLRGRSFM NNWEVYKLLA HVRPPVSKSG SHTVAVMNVG 490 500 510 520 530 540 APAAGMNAAV RSTVRIGLIQ GNRVLVVHDG FEGLAKGQIE EAGWSYVGGW TGQGGSKLGT 550 560 570 580 590 600 KRTLPKKSFE QISANITKFN IQGLVIIGGF EAYTGGLELM EGRKQFDELC IPFVVIPATV 610 620 630 640 650 660 SNNVPGSDFS VGADTALNTI CTTCDRIKQS AAGTKRRVFI IETMGGYCGY LATMAGLAAG 670 680 690 700 710 720 ADAAYIFEEP FTIRDLQANV EHLVQKMKTT VKRGLVLRNE KCNENYTTDF IFNLYSEEGK 730 740 750 760 770 780 GIFDSRKNVL GHMQQGGSPT PFDRNFATKM GAKAMNWMSG KIKESYRNGR IFANTPDSGC 790 800 810 820 830 840 VLGMRKRALV FQPVAELKDQ TDFEHRIPKE QWWLKLRPIL KILAKYEIDL DTSDHAHLEH 850 ITRKRSGEAA V

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system." Yamasaki T., Nakajima H., Kono N., Hotta K., Yamada K., Imai E., Kuwajima M., Noguchi T., Tanaka T., Tarui S. Gene 104:277-282(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Muscle.
[2]	"Cloning and expression of a human muscle phosphofructokinase cDNA." Sharma P.M., Reddy G.R., Vora S., Babior B.M., McLachlan A. Gene 77:177-183(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Muscle.
[3]	"Cloning of human muscle phosphofructokinase cDNA." Nakajima H., Noguchi T., Yamasaki T., Kono N., Tanaka T., Tarui S. FEBS Lett. 223:113-116(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Muscle.
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Thymus.
[5]	"The finished DNA sequence of human chromosome 12." Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A. Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain and Muscle.
[7]	"Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase." Sharma P.M., Reddy G.R., Babior B.M., McLachlan A. J. Biol. Chem. 265:9006-9010(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 272-681 (ISOFORM 2). Tissue: Muscle.
[8]	"Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon." Valdez B.C., Chen Z., Sosa M.G., Younathan E.S., Chang S.H. Gene 76:167-169(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-28. Tissue: Muscle.
[9]	"Mutations in muscle phosphofructokinase gene." Raben N., Sherman J.B. Hum. Mutat. 6:1-6(1995) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON GSD7 VARIANTS.
[10]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-667, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]	"Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency." Tsujino S., Servidei S., Tonin P., Shanske S., Azan G., DiMauro S. Am. J. Hum. Genet. 54:812-819(1994) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GSD7 PRO-39 AND ALA-543.
[13]	"Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency." Raben N., Exelbert R., Spiegel R., Sherman J.B., Plotz P., Heinisch J.J. Am. J. Hum. Genet. 56:131-141(1995) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS GSD7 GLN-100; ASP-209 AND HIS-696.
[14]	"Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII." Hamaguchi T., Nakajima H., Noguchi T., Nakagawa C., Kuwajima M., Kono N., Tarui S., Matsuzawa Y. Hum. Mutat. 8:273-275(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT GSD7 CYS-686.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	M59741 , M59720, M59721, M59722, M59723, M59724, M59725, M59726, M59727, M59728, M59729, M59730, M59731, M59732, M59733, M59734, M59735, M59736, M59737, M59738, M59739, M59740 Genomic DNA. Translation: AAA82938.1. M26066 mRNA. Translation: AAA60068.1. Y00698 mRNA. Translation: CAA68692.1. AK126229 mRNA. Translation: BAC86498.1. AC004801 Genomic DNA. No translation available. AC074029 Genomic DNA. No translation available. BC000534 mRNA. Translation: AAH00534.1. BC012799 mRNA. Translation: AAH12799.1. BC013298 mRNA. Translation: AAH13298.1. BC021203 mRNA. Translation: AAH21203.1. J05533 mRNA. Translation: AAA79220.1. M24925 Genomic DNA. Translation: AAA36436.1.
IPI	IPI00219585. IPI00465179. IPI00743142.
PIR	KIHUFM. A91605.
RefSeq	NP_000280.1. NM_000289.5. NP_001160158.1. NM_001166686.1. NP_001160159.1. NM_001166687.1. NP_001160160.1. NM_001166688.1.
UniGene	Hs.75160.
3D structure databases
ProteinModelPortal	P08237.
ModBase	Search...
Protein-protein interaction databases
IntAct	P08237. 5 interactions.
STRING	9606.ENSP00000352842.
PTM databases
PhosphoSite	P08237.
Polymorphism databases
DMDM	125126.
2D gel databases
UCD-2DPAGE	P08237.
Proteomic databases
PaxDb	P08237.
PRIDE	P08237.
Protocols and materials databases
DNASU	5213.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000312352; ENSP00000309438; ENSG00000152556. ENST00000340802; ENSP00000345771; ENSG00000152556. ENST00000359794; ENSP00000352842; ENSG00000152556. ENST00000395233; ENSP00000378656; ENSG00000152556. ENST00000547587; ENSP00000449426; ENSG00000152556. ENST00000551804; ENSP00000448177; ENSG00000152556.
GeneID	5213.
KEGG	hsa:5213.
UCSC	uc001rra.2. human. uc001rrg.2. human.
Organism-specific databases
CTD	5213.
GeneCards	GC12P048501.
HGNC	HGNC:8877. PFKM.
HPA	HPA002117.
MIM	232800. phenotype. 610681. gene.
neXtProt	NX_P08237.
Orphanet	371. Muscle phosphofructokinase deficiency.
PharmGKB	PA33216.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0205.
HOGENOM	HOG000200154.
HOVERGEN	HBG000976.
InParanoid	P08237.
KO	K00850.
OrthoDB	EOG4RJG0W.
PhylomeDB	P08237.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
SABIO-RK	P08237.
UniPathway	UPA00109; UER00182.
Gene expression databases
ArrayExpress	P08237.
Bgee	P08237.
CleanEx	HS_PFKM.
Genevestigator	P08237.
GermOnline	ENSG00000152556. Homo sapiens.
Family and domain databases
InterPro	IPR009161. 6-phosphofructokinase_euk. IPR022953. Phosphofructokinase. IPR015912. Phosphofructokinase_CS. IPR000023. Phosphofructokinase_dom. [Graphical view]
Pfam	PF00365. PFK. 2 hits. [Graphical view]
PIRSF	PIRSF000533. ATP_PFK_euk. 1 hit.
PRINTS	PR00476. PHFRCTKINASE.
SUPFAM	SSF53784. Ppfruckinase. 2 hits.
TIGRFAMs	TIGR02478. 6PF1K_euk. 1 hit.
PROSITE	PS00433. PHOSPHOFRUCTOKINASE. 2 hits. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P08237.
ChEMBL	CHEMBL3291.
ChiTaRS	PFKM. human.
GenomeRNAi	5213.
NextBio	20164.
PMAP-CutDB	P08237.
SOURCE	Search...

Entry information

Entry name

K6PF_HUMAN

Accession

Primary (citable) accession number: P08237
Secondary accession number(s): J3KNX3 , Q16814, Q16815, Q6ZTT1

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 1, 1988
Last sequence update:	January 23, 2007
Last modified:	May 1, 2013
This is version 153 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.