PGM1
entrez
5236
canonical
uniprot
P36871
canonical
ensembl
ENSG00000079739
resolver
ensp
ENSP00000360124
resolver
ensp
ENSP00000360125
resolver
ensp
ENSP00000443449
resolver
genesymbol
PGM1
resolver
hgnc
HGNC:8905
resolver
uniprot
B2R5N9
resolver
uniprot
B4DDQ8
resolver
uniprot
B4DPV0
resolver
uniprot
B7Z6C2
resolver
uniprot
Q16105
resolver
uniprot
Q16106
resolver
uniprot
Q5BKZ9
resolver
uniprot
Q6NW22
resolver
uniprot
Q86U74
resolver
uniprot
Q96J40
resolver
uniprot
Q9NTY4
resolver
uniprot_entry
B4DDQ8_HUMAN
resolver
uniprot_entry
B7Z6C2_HUMAN
resolver
uniprot_entry
PGM1_HUMAN
resolver
uniprot_sec
B2R5N9
resolver
uniprot_sec
B4DPV0
resolver
uniprot_sec
Q16105
resolver
uniprot_sec
Q16106
resolver
uniprot_sec
Q5BKZ9
resolver
uniprot_sec
Q6NW22
resolver
uniprot_sec
Q86U74
resolver
uniprot_sec
Q96J40
resolver
uniprot_sec
Q9NTY4
resolver
activity_regulation
ACTIVITY REGULATION: Glucose-1,6-bisphosphate enhances phosphorylation of the active site Ser-117, and thereby increases enzyme activity. {ECO:0000269|PubMed:25288802}.
uniprot
proteins
amino_acid_sequence
MVKIVTVKTQAYQDQKPGTSGLRKRVKVFQSSANYAENFIQSIISTVEPAQRQEATLVVGGDGRFYMKEAIQLIARIAAANGIGRLVIGQNGILSTPAVSCIIRKIKAIGGIILTASHNPGGPNGDFGIKFNISNGGPAPEAITDKIFQISKTIEEYAVCPDLKVDLGVLGKQQFDLENKFKPFTVEIVDSVEAYATMLRSIFDFSALKELLSGPNRLKIRIDAMHGVVGPYVKKILCEELGAPANSAVNCVPLEDFGGHHPDPNLTYAADLVETMKSGEHDFGAAFDGDGDRNMILGKHGFFVNPSDSVAVIAANIFSIPYFQQTGVRGFARSMPTSGALDRVASATKIALYETPTGWKFFGNLMDASKLSLCGEESFGTGSDHIREKDGLWAVLAWLSILATRKQSVEDILKDHWQKYGRNFFTRYDYEEVEAEGANKMMKDLEALMFDRSFVGKQFSANDKVYTVEKADNFEYSDPVDGSISRNQGLRLIFTDGSRIVFRLSGTGSAGATIRLYIDSYEKDVAKINQDPQVMLAPLISIALKVSQLQERTGRTAPTVIT
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1T (CDG1T) [MIM:614921]: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269|PubMed:19625727, ECO:0000269|PubMed:22492991, ECO:0000269|PubMed:22976764, ECO:0000269|PubMed:24499211, ECO:0000269|PubMed:25288802, ECO:0000269|PubMed:26972339}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.4.2.2
uniprot
proteins
function
FUNCTION: Catalyzes the reversible isomerization of alpha-D-glucose 1-phosphate to alpha-D-glucose 6-phosphate (PubMed:15378030, PubMed:25288802). The mechanism proceeds via the intermediate compound alpha-D-glucose 1,6-bisphosphate (Probable) (PubMed:25288802). This enzyme participates in both the breakdown and synthesis of glucose (PubMed:17924679, PubMed:25288802). {ECO:0000269|PubMed:15378030, ECO:0000269|PubMed:17924679, ECO:0000269|PubMed:25288802, ECO:0000305|PubMed:15378030}.
uniprot
proteins
mass_dalton
61449
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Thr-467 by PAK1 significantly enhances enzymatic activity. {ECO:0000269|PubMed:15378030}.
uniprot
proteins
protein_family
Phosphohexose mutase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
1530890
uniprot
proteins
pubmed
15378030
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17924679
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19625727
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22492991
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
22976764
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24499211
uniprot
proteins
pubmed
25288802
uniprot
proteins
pubmed
26972339
uniprot
proteins
pubmed
7902567
uniprot
proteins
pubmed
7902568
uniprot
proteins
pubmed
8257433
uniprot
proteins
sequence_length
562
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm.
uniprot
proteins