KPYR_HUMAN
Source:
hRBCD
; ID:
IPI00027165
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
PKLR
, PK1, PKL
Protein names and data:
KPYR_HUMAN
, Pyruvate kinase PKLR; 2.7.1.40
, Pyruvate kinase 1; Pyruvate kinase isozymes L/R; R-type/L-type pyruvate kinase; Red cell/liver pyruvate kinase
Lenght: 574 a.a.
Mass: 61830 Da
fasta formatted sequence
Function:
Plays a key role in glycolysis (By similarity).
Catalytic activity:
ATP + pyruvate = ADP + phosphoenolpyruvate.
Pathway:
Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 5/5.
Disease:
( OMIM:
102900
266200
609712
)
Pyruvate kinase hyperactivity (PKHYP) [MIM:102900]: Autosomal dominant phenotype characterized by increase of red blood cell ATP. Note=The disease is caused by mutations affecting the gene represented in this entry. Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]: A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
37 - 37
G -> E (in PKHYP). VAR_011435
40 - 40
R -> W (in PKRD). VAR_058467
48 - 53
Missing (in PKRD). VAR_058468
73 - 73
L -> P (in PKRD). VAR_058469
80 - 80
S -> P (in PKRD). VAR_011436
86 - 86
R -> P (in PKRD). VAR_011437
90 - 90
I -> N (in PKRD). VAR_011438
95 - 95
G -> R (in PKRD). VAR_011439
107 - 107
M -> T (in PKRD). VAR_004028
111 - 111
G -> R (in PKRD). VAR_011440
115 - 115
A -> P (in PKRD; Val de Marne). VAR_011441
120 - 120
S -> F (in PKRD; Beaujon). VAR_011442
130 - 130
S -> Y (in PKRD; Conakry). VAR_011443
131 - 131
Missing (in PKRD). VAR_004029
134 - 134
V -> D (in PKRD). VAR_004030
153 - 153
I -> T (in PKRD). VAR_011474
154 - 154
A -> T (in PKRD). VAR_058470
155 - 155
L -> P (in PKRD). VAR_004031
159 - 159
G -> V (in PKRD). VAR_011444
163 - 163
R -> C (in PKRD; Linz). VAR_004033
163 - 163
R -> L (in PKRD). VAR_058471
165 - 165
G -> V (in PKRD). VAR_058472
172 - 172
E -> Q (in PKRD; Sassari). VAR_004032
219 - 219
I -> T (in PKRD). VAR_011475
221 - 221
D -> DD (in PKRD). VAR_004034
222 - 222
G -> A (in PKRD; Katsushika). VAR_011445
263 - 263
G -> R (in PKRD). VAR_011447
263 - 263
G -> W (in PKRD). VAR_011448
272 - 272
L -> V (in PKRD). VAR_058473
275 - 275
G -> R (in PKRD). VAR_004035
281 - 281
D -> N (in PKRD). VAR_004036
287 - 287
F -> V (in PKRD). VAR_004037
288 - 288
V -> L (in PKRD; Moriguchi). VAR_011449
293 - 293
D -> N (in PKRD). VAR_011446
295 - 295
A -> V (in PKRD). VAR_011450
310 - 310
I -> N (in PKRD; Dordrecht). VAR_011451
314 - 314
I -> T (in PKRD; Hong Kong). VAR_004038
315 - 315
E -> K (in PKRD). VAR_011452
320 - 320
V -> L (in PKRD). VAR_058474
331 - 331
D -> E (in PKRD; Parma). VAR_004039
331 - 331
D -> N (in PKRD). VAR_011453
332 - 332
G -> S (in PKRD; loss of catalytical activity). VAR_004040
335 - 335
V -> M (in PKRD). VAR_011476
336 - 336
A -> S (in PKRD). VAR_004041
337 - 337
R -> P (in PKRD). VAR_004042
337 - 337
R -> Q (in PKRD). VAR_004043
339 - 339
D -> H (in PKRD). VAR_004044
341 - 341
G -> A (in PKRD). VAR_004045
341 - 341
G -> D (in PKRD). VAR_011454
342 - 342
I -> F (in PKRD). VAR_011455
348 - 348
K -> N (in PKRD; Kamata). VAR_011456
348 - 348
Missing (in PKRD; Brescia). VAR_011457
352 - 352
A -> D (in PKRD). VAR_011477
354 - 354
Missing (in PKRD). VAR_004046
357 - 357
I -> T (in PKRD). VAR_004047
358 - 358
G -> E (in PKRD). VAR_058475
359 - 359
R -> C (in PKRD; Aomori). VAR_004048
359 - 359
R -> H (in PKRD). VAR_004049
361 - 361
N -> D (in PKRD). VAR_004050
364 - 364
G -> D (in PKRD; Tjaereborg; unstability of the protein and decrease in catalytic activity). VAR_011458
368 - 368
V -> F (in PKRD; Osaka). VAR_004051
374 - 374
L -> P (in PKRD). VAR_058476
376 - 376
S -> I (in PKRD). VAR_011459
384 - 384
T -> M (in PKRD; Tokyo/Beirut; most common mutation in Japanese population; no conformational change). VAR_004052
385 - 385
R -> W (in PKRD). VAR_011478
387 - 387
E -> G (in PKRD). VAR_011460
390 - 390
D -> N (in PKRD; Mantova; almost complete inactivation). VAR_011461
392 - 392
A -> T (in PKRD). VAR_004053
393 - 393
N -> K (in PKRD). VAR_004054
393 - 393
N -> S (in PKRD; Paris). VAR_004055
394 - 394
A -> D (in PKRD). VAR_011462
394 - 394
A -> V (in PKRD). VAR_011463
401 - 401
C -> CS (in PKRD). VAR_004056
408 - 408
T -> A (in PKRD; Hirosaki). VAR_011464
408 - 408
T -> I (in PKRD). VAR_004057
421 - 421
Q -> K (in PKRD; Fukushima/Maebashi/ Sendai). VAR_004058
426 - 426
R -> Q (in PKRD; Sapporo). VAR_004059
426 - 426
R -> W (in PKRD; Naniwa). VAR_004060
427 - 427
E -> A (in PKRD). VAR_011465
427 - 427
E -> D (in PKRD). VAR_011466
431 - 431
A -> T (in PKRD). VAR_004061
458 - 458
G -> D (in PKRD). VAR_004062
459 - 459
A -> V (in PKRD). VAR_004063
460 - 460
V -> M (in PKRD). VAR_004064
468 - 468
A -> G (in PKRD). VAR_011479
468 - 468
A -> V (in PKRD; Hadano). VAR_004065
477 - 477
T -> A (in PKRD). VAR_011467
479 - 479
R -> H (in PKRD; Amish; no conformational change). VAR_011480
485 - 485
S -> F (in PKRD). VAR_011468
486 - 486
R -> W (in PKRD; frequent mutation; no conformational change; dbSNP:rs116100695). VAR_004066
116100695
488 - 488
R -> Q (in PKRD). VAR_011469
490 - 490
R -> W (in PKRD; dbSNP:rs200133000). VAR_004067
200133000
495 - 495
A -> T (in PKRD). VAR_011470
495 - 495
A -> V (in PKRD). VAR_004068
498 - 498
R -> C (in PKRD). VAR_004069
498 - 498
R -> H (in PKRD). VAR_004070
504 - 504
R -> L (in PKRD; instability of the protein; dbSNP:rs185753709). VAR_011471
185753709
506 - 506
V -> I (in dbSNP:rs8177988). VAR_018848
8177988
510 - 510
R -> Q (in PKRD; the most common mutation in European population; dbSNP:rs113403872). VAR_004071
113403872
511 - 511
G -> R (in PKRD). VAR_011472
531 - 531
R -> C (in PKRD). VAR_011473
532 - 532
R -> Q (in PKRD). VAR_004072
532 - 532
R -> W (in PKRD; Complete loss in the responsiveness to fructose 1,6- bisphosphate, FBP). VAR_004073
552 - 552
V -> M (in PKRD). VAR_004074
557 - 557
G -> A (in PKRD). VAR_011481
559 - 559
R -> G (in PKRD). VAR_004075
566 - 566
N -> K (in PKRD). VAR_004076
569 - 569
R -> Q (in PKRD; dbSNP:rs61755431). VAR_011482
61755431
Database cross-references
UniProt:
P30613
Ensembl:
ENST00000342741
Ensembl:
ENST00000392414
Ensembl:
ENST00000571194
Ensembl:
ENST00000572740
MIM:
102900
MIM:
266200
MIM:
609712
neXtProt:
NX_P30613
Antibodypedia:
P30613
(may not find the protein thus also not any antibody)
Local full text data:
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