PGK1_HUMAN
Source:
hRBCD
; ID:
IPI00169383
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:
PGK1
, PGKA
, MIG10, OK/SW-cl.110
Protein names and data:
PGK1_HUMAN
, Phosphoglycerate kinase 1; 2.7.2.3
, Cell migration-inducing gene 10 protein; Primer recognition protein 2; PRP 2
Lenght: 417 a.a.
Mass: 44615 Da
fasta formatted sequence
Function:
In addition to its role as a glycolytic enzyme, it seems that PGK-1 acts as a polymerase alpha cofactor protein (primer recognition protein).
Catalytic activity:
ATP + 3-phospho-D-glycerate = ADP + 3-phospho- D-glyceroyl phosphate.
Pathway:
Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 2/5.
Disease:
( OMIM:
300653
311800
)
Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]: A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm.
Genetic variants
88 - 88
L -> P (in PGK1D; with congenital non- spherocytic anemia; variant Matsue). VAR_006076
158 - 158
G -> V (in PGK1D; with chronic hemolytic anemia; variant Shizuoka). VAR_006077
164 - 164
D -> V (in PGK1D; with chronic hemolytic anemia and mental retardation; variant Amiens). VAR_006078
191 - 191
Missing (in PGK1D; with chronic hemolytic anemia; variant Alabama). VAR_006079
206 - 206
R -> P (in PGK1D; with chronic hemolytic anemia; variant Uppsala). VAR_006080
252 - 252
E -> A (in PGK1D; with chronic hemolytic anemia; variant Antwerp). VAR_006081
266 - 266
V -> M (in PGK1D; with chronic non- spherocytic hemolytic anemia; variant Tokyo). VAR_006082
268 - 268
D -> N (in Munchen; 21% of activity). VAR_006083
285 - 285
D -> V (in PGK1D; with chronic hemolytic anemia; variant Herlev; 50% of activity). VAR_006084
315 - 315
D -> N (in PGK1D; with rhabdomyolysis; variant Creteil). VAR_006085
316 - 316
C -> R (in PGK1D; with chronic hemolytic anemia; variant Michigan). VAR_006086
352 - 352
T -> N. VAR_006087
Database cross-references
UniProt:
P00558
Ensembl:
ENST00000373316
Ensembl:
ENST00000597340
MIM:
300653
MIM:
311800
neXtProt:
NX_P00558
Antibodypedia:
P00558
(may not find the protein thus also not any antibody)
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