PGM3
entrez
5238
canonical
uniprot
O95394
canonical
ensembl
ENSG00000013375
resolver
ensp
ENSP00000283977
resolver
ensp
ENSP00000421565
resolver
ensp
ENSP00000424865
resolver
ensp
ENSP00000424874
resolver
ensp
ENSP00000425809
resolver
ensp
ENSP00000477539
resolver
ensp
ENSP00000498516
resolver
ensp
ENSP00000498986
resolver
ensp
ENSP00000611585
resolver
enst
ENST00000283977
resolver
enst
ENST00000650642
resolver
enst
ENST00000941526
resolver
genesymbol
PGM3
resolver
genesymbol_syn
AGM1
resolver
hgnc
HGNC:8907
resolver
uniprot
A0A494C0G1
resolver
uniprot
B2RB65
resolver
uniprot
B4DX94
resolver
uniprot
D6RF12
resolver
uniprot
E1P547
resolver
uniprot
E9PF86
resolver
uniprot
J3KN95
resolver
uniprot
Q5JWR4
resolver
uniprot
Q96J46
resolver
uniprot
Q9H8G5
resolver
uniprot
Q9NS94
resolver
uniprot
Q9NTT6
resolver
uniprot
Q9UFV5
resolver
uniprot
Q9UIY2
resolver
uniprot_entry
A0A494C0G1_HUMAN
resolver
uniprot_entry
AGM1_HUMAN
resolver
uniprot_entry
J3KN95_HUMAN
resolver
uniprot_sec
B2RB65
resolver
uniprot_sec
B4DX94
resolver
uniprot_sec
D6RF12
resolver
uniprot_sec
E1P547
resolver
uniprot_sec
E9PF86
resolver
uniprot_sec
Q5JWR4
resolver
uniprot_sec
Q96J46
resolver
uniprot_sec
Q9H8G5
resolver
uniprot_sec
Q9NS94
resolver
uniprot_sec
Q9NTT6
resolver
uniprot_sec
Q9UFV5
resolver
uniprot_sec
Q9UIY2
resolver
amino_acid_sequence
MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVMVTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQDAFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATIEGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDGSKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDKIATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKAQEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAISDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEAINDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQPGF
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 23 (IMD23) [MIM:615816]: A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. {ECO:0000269|PubMed:24589341, ECO:0000269|PubMed:24698316, ECO:0000269|PubMed:24931394}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.4.2.3
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation. {ECO:0000303|PubMed:24589341, ECO:0000303|PubMed:24698316, ECO:0000303|PubMed:24931394}.
uniprot
proteins
mass_dalton
59852
uniprot
proteins
mutagenesis
MUTAGEN 64; /note="S->A: Loss of activity."; /evidence="ECO:0000269|PubMed:11004509"; MUTAGEN 65; /note="H->A: Loss of activity."; /evidence="ECO:0000269|PubMed:11004509"; MUTAGEN 278; /note="D->A,E: Loss of activity."; /evidence="ECO:0000269|PubMed:11004509"; MUTAGEN 281; /note="R->A,K: Loss of activity."; /evidence="ECO:0000269|PubMed:11004509
uniprot
proteins
pathway_participation
PATHWAY: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; N-acetyl-alpha-D-glucosamine 1-phosphate from alpha-D-glucosamine 6-phosphate (route I): step 2/2. {ECO:0000303|PubMed:24589341, ECO:0000303|PubMed:24698316, ECO:0000303|PubMed:24931394}.
uniprot
proteins
protein_family
Phosphohexose mutase family
uniprot
proteins
pubmed
10721701
uniprot
proteins
pubmed
11004509
uniprot
proteins
pubmed
12174217
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24589341
uniprot
proteins
pubmed
24698316
uniprot
proteins
pubmed
24931394
uniprot
proteins
sequence_length
542
uniprot
proteins