PFKM

GENE INFORMATION

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Gene name

PFKM (HGNC Symbol)

Synonyms

PFK-1, PFKX

Description

Phosphofructokinase, muscle (HGNC Symbol)

Entrez gene summary

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]

Chromosome

12

Cytoband

q13.11

Chromosome location (bp)

48498922 - 48540187

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000152556 (version 75.37)

Entrez gene

5213

UniProt

P08237 (UniProt - Evidence at protein level)

neXtProt

NX_P08237

Antibodypedia

PFKM antibodies
 

PROTEIN VIEW

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 « 
 
PFKM-001
 
PFKM-002
 
PFKM-003
 
PFKM-005
 
PFKM-006
 
PFKM-007
 
PFKM-008
 
PFKM-009
 
PFKM-010
 
PFKM-011
 
PFKM-012
 
PFKM-013
 
PFKM-014
 
PFKM-015
 
PFKM-018
 
PFKM-019
 
PFKM-020
 
PFKM-021
 
PFKM-024
 
PFKM-025
 
PFKM-028
 
PFKM-029
 
PFKM-030
 
PFKM-201
 
PFKM-202
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PFKM-001 ENSP00000345771
ENST00000340802
P08237
Show all »
Show » Show » 851 93.3 No 0
PFKM-002 ENSP00000352842
ENST00000359794
P08237
Show all »
Show » Show » 780 85.2 No 0
PFKM-003 ENSP00000447992
ENST00000547581
F8VTT5
Show all »
Show » 176 19.6 No 0
PFKM-005 ENSP00000449426
ENST00000547587
P08237
Show all »
Show » Show » 780 85.2 No 0
PFKM-006 ENSP00000448177
ENST00000551804
P08237
Show all »
Show » Show » 749 81.8 No 0
PFKM-007 ENSP00000449622
ENST00000549366
F8VVE3
Show all »
Show » Show » 165 18.1 No 0
PFKM-008 ENSP00000450369
ENST00000550345
F8VNX2
Show all »
Show » Show » 157 16.8 No 0
PFKM-009 ENSP00000449835
ENST00000549003
F8VW30
Show all »
Show » Show » 117 12.5 No 0
PFKM-010 ENSP00000446829
ENST00000549941
F8VZI0
Show all »
Show » Show » 153 16.6 No 0
PFKM-011 ENSP00000447997
ENST00000550257
F8VTQ3
Show all »
Show » Show » 149 16 No 0
PFKM-012 ENSP00000450173
ENST00000546755
F8VNZ1
Show all »
Show » 125 14.1 No 0
PFKM-013 ENSP00000448940
ENST00000552792
F8VYK8
Show all »
Show » Show » 150 16.4 No 0
PFKM-014 ENSP00000446805
ENST00000549022
F8VZQ1
Show all »
Show » Show » 161 17.2 No 0
PFKM-015 ENSP00000448318
ENST00000547066
F8VSF5
Show all »
Show » 73 7.9 No 0
PFKM-018 ENSP00000448315
ENST00000551485
F8VSF7
Show all »
Show » Show » 102 11 No 0
PFKM-019 ENSP00000449269
ENST00000548345
F8VX13
Show all »
Show » Show » 156 16.9 No 0
PFKM-020 ENSP00000446519
ENST00000546465
F8VP00
Show all »
Show » Show » 177 18.5 No 0
PFKM-021 ENSP00000447774
ENST00000552989
F8VZ53
Show all »
Show » 59 6.3 No 0
PFKM-024 ENSP00000450091
ENST00000553055
Show » Show » 97 10.5 No 0
PFKM-025 ENSP00000446740
ENST00000552752
Show » Show » 41 4.5 No 0
PFKM-028 ENSP00000446945
ENST00000550924
F8W1J8
Show all »
Show » Show » 85 8.9 No 0
PFKM-029 ENSP00000448018
ENST00000548288
F8VUB8
Show all »
Show » Show » 141 15.4 No 0
PFKM-030 ENSP00000448253
ENST00000551339
F8VSL1
Show all »
Show » Show » 139 14.8 No 0
PFKM-201 ENSP00000309438
ENST00000312352
P08237
Show all »
Show » Show » 780 85.2 No 0
PFKM-202 ENSP00000378656
ENST00000395233
P08237
Show all »
Show » Show » 749 81.8 No 0