RBCC Red Blood Cell Collection

K6PF_HUMAN

Source: hRBCD ; ID: IPI00181260
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: PFKM , PFKX
Protein names and data: K6PF_HUMAN , 6-phosphofructokinase, muscle type; 2.7.1.11 , Phosphofructo-1-kinase isozyme A; PFK-A; Phosphofructokinase-M; Phosphofructokinase 1; Phosphohexokinase Lenght: 780 a.a.
Mass: 85183 Da
fasta formatted sequence
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.
Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 3/4.
Disease: ( OMIM: 232800 610681 ) 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.

Genetic variants

39 - 39 R -> L (in GSD7; Ashkenazi). VAR_006063
39 - 39 R -> P (in GSD7; Italian). VAR_006064
100 - 100 R -> Q (in GSD7; Swiss; dbSNP:rs2228500). VAR_006065 2228500
209 - 209 G -> D (in GSD7; French Canadian). VAR_006066
543 - 543 D -> A (in GSD7; Italian). VAR_006067
686 - 686 W -> C (in GSD7; Japanese). VAR_006068
696 - 696 R -> H (in GSD7; Swiss; dbSNP:rs41291971). VAR_006069 41291971

Database cross-references

UniProt: P08237
Ensembl: ENST00000312352
Ensembl: ENST00000340802
Ensembl: ENST00000359794
Ensembl: ENST00000395233
Ensembl: ENST00000547587
Ensembl: ENST00000551804
MIM: 232800
MIM: 610681
neXtProt: NX_P08237
Antibodypedia: P08237 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2