GMPPB
entrez
29925
canonical
uniprot
Q9Y5P6
canonical
ensembl
ENSG00000173540
resolver
ensp
ENSP00000309092
resolver
ensp
ENSP00000311130
resolver
genesymbol
GMPPB
resolver
hgnc
HGNC:22932
resolver
uniprot
A8K6N5
resolver
uniprot
Q9H7U3
resolver
uniprot_entry
GMPPB_HUMAN
resolver
uniprot_sec
A8K6N5
resolver
uniprot_sec
Q9H7U3
resolver
activity_regulation
ACTIVITY REGULATION: Enzyme activity is reduced by incorporation into the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex (PubMed:33986552). Allosterically inhibited, when part of the GMPPA-GMPPB complex, by GDP-alpha-D-mannose binding to GMPPA (PubMed:33986552). {ECO:0000269|PubMed:33986552}.
uniprot
proteins
amino_acid_sequence
MKALILVGGYGTRLRPLTLSTPKPLVDFCNKPILLHQVEALAAAGVDHVILAVSYMSQVLEKEMKAQEQRLGIRISMSHEEEPLGTAGPLALARDLLSETADPFFVLNSDVICDFPFQAMVQFHRHHGQEGSILVTKVEEPSKYGVVVCEADTGRIHRFVEKPQVFVSNKINAGMYILSPAVLQRIQLQPTSIEKEVFPIMAKEGQLYAMELQGFWMDIGQPKDFLTGMCLFLQSLRQKQPERLCSGPGIVGNVLVDPSARIGQNCSIGPNVSLGPGVVVEDGVCIRRCTVLRDARIRSHSWLESCIVGWRCRVGQWVRMENVTVLGEDVIVNDELYLNGASVLPHKSIGESVPEPRIIM
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with brain anomalies, eye malformations, and profound intellectual disability. The disorder includes a severe form designated as Walker-Warburg syndrome and a less severe phenotype known as muscle-eye-brain disease. MDDGA14 features include increased muscle tone, microcephaly, cleft palate, feeding difficulties, severe muscle weakness, sensorineural hearing loss, cerebellar hypoplasia, ataxia, and retinal dysfunction. {ECO:0000269|PubMed:23768512, ECO:0000269|PubMed:33986552}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14 (MDDGB14) [MIM:615351]: A congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and intellectual disability. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. {ECO:0000269|PubMed:23768512, ECO:0000269|PubMed:33986552}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352]: An autosomal recessive form of muscular dystrophy characterized by mild proximal muscle weakness with onset in early childhood. Some patients may have additional features, such as mild intellectual disability or seizures. {ECO:0000269|PubMed:23768512, ECO:0000269|PubMed:26310427, ECO:0000269|PubMed:28433477, ECO:0000269|PubMed:28478914, ECO:0000269|PubMed:33986552}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.13
uniprot
proteins
function
FUNCTION: Catalytic subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex (PubMed:33986552). Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids (PubMed:33986552). Can catalyze the reverse reaction in vitro (PubMed:33986552). Together with GMPPA regulates GDP-alpha-D-mannose levels (PubMed:33986552). {ECO:0000269|PubMed:33986552}.
uniprot
proteins
mass_dalton
39834
uniprot
proteins
mutagenesis
MUTAGEN 193; /note="I->T: Reduces enzymatic activity."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 218; /note="D->A: Reduces GDP-alpha-D-mannose binding affinity and inhibits catalytic activity but does not affect assembly of GMPPA-GMPPB complex. Does not rescue the knockdown phenotype in a zebrafish disease model."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 218; /note="D->Q: Abrogates enzyme activity."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 266; /note="C->Y: Reduces interaction with GMPPB but not with GMPPA."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 287; /note="R->E: Disrupts interaction with other GMPPB molecules but not with GMPPA."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 303; /note="L->F: Reduces interaction with GMPPB but not with GMPPA."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 335; /note="E->R: Disrupted interaction with GMPPA and other GMPPB molecules."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 344..347; /note="LPHK->AAAA: Does not disrupt the interaction with GMPPA or other GMPPB molecules."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 358..360; /note="Missing: Reduced efficiency of allosteric inhibition by GMPPA but interaction with GMPPA or other GMPPB molecules is not disrupted."; /evidence="ECO:0000269|PubMed:33986552
uniprot
proteins
pathway_participation
PATHWAY: Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; GDP-alpha-D-mannose from alpha-D-mannose 1-phosphate (GTP route): step 1/1. {ECO:0000269|PubMed:33986552}.
uniprot
proteins
protein_family
Transferase hexapeptide repeat family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23768512
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26310427
uniprot
proteins
pubmed
28433477
uniprot
proteins
pubmed
28478914
uniprot
proteins
pubmed
33986552
uniprot
proteins
sequence_length
360
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23768512}.
uniprot
proteins