BPGM
entrez
669
canonical
uniprot
P07738
canonical
ensembl
ENSG00000172331
resolver
ensp
ENSP00000342032
resolver
ensp
ENSP00000376840
resolver
ensp
ENSP00000399838
resolver
ensp
ENSP00000574987
resolver
ensp
ENSP00000574988
resolver
ensp
ENSP00000574989
resolver
ensp
ENSP00000589735
resolver
ensp
ENSP00000589736
resolver
ensp
ENSP00000589737
resolver
ensp
ENSP00000620452
resolver
ensp
ENSP00000620453
resolver
ensp
ENSP00000760523
resolver
ensp
ENSP00000760524
resolver
enst
ENST00000344924
resolver
enst
ENST00000393132
resolver
enst
ENST00000418040
resolver
enst
ENST00000904928
resolver
enst
ENST00000904929
resolver
enst
ENST00000904930
resolver
enst
ENST00000919676
resolver
enst
ENST00000919677
resolver
enst
ENST00000919678
resolver
enst
ENST00000950393
resolver
enst
ENST00000950394
resolver
genesymbol
BPGM
resolver
hgnc
HGNC:1093
resolver
uniprot
A0A024R782
resolver
uniprot
A4D1N9
resolver
uniprot_entry
A0A024R782_HUMAN
resolver
uniprot_entry
PMGE_HUMAN
resolver
uniprot_sec
A4D1N9
resolver
activity_regulation
ACTIVITY REGULATION: At alkaline pH BPGM favors the synthase reaction; however, at lower pH the phosphatase reaction is dominant. Inhibited by citrate. {ECO:0000269|PubMed:10477269, ECO:0000269|PubMed:21045285}.
uniprot
proteins
amino_acid_sequence
MSKYKLIMLRHGEGAWNKENRFCSWVDQKLNSEGMEEARNCGKQLKALNFEFDLVFTSVLNRSIHTAWLILEELGQEWVPVESSWRLNERHYGALIGLNREQMALNHGEEQVRLWRRSYNVTPPPIEESHPYYQEIYNDRRYKVCDVPLDQLPRSESLKDVLERLLPYWNERIAPEVLRGKTILISAHGNSSRALLKHLEGISDEDIINITLPTGVPILLELDENLRAVGPHQFLGDQEAIQAAIKKVEDQGKVKQAKK
uniprot
proteins
disease_involvement
DISEASE: Erythrocytosis, familial, 8 (ECYT8) [MIM:222800]: An autosomal recessive disorder characterized by elevated serum hemoglobin and hematocrit, and biphosphoglycerate mutase deficiency. ECYT8 affected individuals manifest hemolytic anemia and splenomegaly. {ECO:0000269|PubMed:1421379, ECO:0000269|PubMed:15054810, ECO:0000269|PubMed:2542247}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.4.2.11
uniprot
proteins
ec_number
5.4.2.4
uniprot
proteins
function
FUNCTION: Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity. {ECO:0000269|PubMed:21045285}.
uniprot
proteins
mass_dalton
30005
uniprot
proteins
post_translational_modification
PTM: Glycation of Lys-159 in diabetic patients inactivates the enzyme.
uniprot
proteins
protein_family
BPG-dependent PGAM subfamily
uniprot
proteins
protein_family
Phosphoglycerate mutase family
uniprot
proteins
pubmed
10477269
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
1387804
uniprot
proteins
pubmed
1421379
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15054810
uniprot
proteins
pubmed
15258155
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16246416
uniprot
proteins
pubmed
17052986
uniprot
proteins
pubmed
21045285
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2542247
uniprot
proteins
pubmed
2844822
uniprot
proteins
pubmed
3023066
uniprot
proteins
pubmed
3036106
uniprot
proteins
pubmed
6313356
uniprot
proteins
pubmed
8440681
uniprot
proteins
pubmed
9832630
uniprot
proteins
sequence_length
259
uniprot
proteins