GMPPA
entrez
29926
canonical
uniprot
Q96IJ6
canonical
ensembl
ENSG00000144591
resolver
ensp
ENSP00000315925
resolver
ensp
ENSP00000350949
resolver
ensp
ENSP00000363016
resolver
ensp
ENSP00000363027
resolver
ensp
ENSP00000478700
resolver
ensp
ENSP00000565945
resolver
ensp
ENSP00000565951
resolver
ensp
ENSP00000620557
resolver
ensp
ENSP00000620559
resolver
ensp
ENSP00000620561
resolver
ensp
ENSP00000680468
resolver
ensp
ENSP00000680471
resolver
genesymbol
GMPPA
resolver
hgnc
HGNC:22923
resolver
uniprot
A0A024R482
resolver
uniprot
A0A384MDS7
resolver
uniprot
A6NJ74
resolver
uniprot
A8K3Q6
resolver
uniprot
B3KMT4
resolver
uniprot
Q53GI0
resolver
uniprot
Q9NWC3
resolver
uniprot
Q9Y5P5
resolver
uniprot_entry
A0A384MDS7_HUMAN
resolver
uniprot_entry
GMPPA_HUMAN
resolver
uniprot_sec
A0A024R482
resolver
uniprot_sec
A6NJ74
resolver
uniprot_sec
A8K3Q6
resolver
uniprot_sec
B3KMT4
resolver
uniprot_sec
Q53GI0
resolver
uniprot_sec
Q9NWC3
resolver
uniprot_sec
Q9Y5P5
resolver
amino_acid_sequence
MLKAVILIGGPQKGTRFRPLSFEVPKPLFPVAGVPMIQHHIEACAQVPGMQEILLIGFYQPDEPLTQFLEAAQQEFNLPVRYLQEFAPLGTGGGLYHFRDQILAGSPEAFFVLNADVCSDFPLSAMLEAHRRQRHPFLLLGTTANRTQSLNYGCIVENPQTHEVLHYVEKPSTFISDIINCGIYLFSPEALKPLRDVFQRNQQDGQLEDSPGLWPGAGTIRLEQDVFSALAGQGQIYVHLTDGIWSQIKSAGSALYASRLYLSRYQDTHPERLAKHTPGGPWIRGNVYIHPTAKVAPSAVLGPNVSIGKGVTVGEGVRLRESIVLHGATLQEHTCVLHSIVGWGSTVGRWARVEGTPSDPNPNDPRARMDSESLFKDGKLLPAITILGCRVRIPAEVLILNSIVLPHKELSRSFTNQIIL
uniprot
proteins
disease_involvement
DISEASE: Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) [MIM:615510]: An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. {ECO:0000269|PubMed:24035193, ECO:0000269|PubMed:33986552}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulatory subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex; reduces the catalytic activity of GMPPB when part of the complex (PubMed:24035193, PubMed:33986552). Mediates allosteric feedback inhibition of GMPPB catalytic activity upon binding GDP-alpha-D-mannose (PubMed:24035193, PubMed:33986552). Together with GMPPB regulates GDP-alpha-D-mannose levels (PubMed:33986552). {ECO:0000269|PubMed:24035193, ECO:0000269|PubMed:33986552}.
uniprot
proteins
mass_dalton
46291
uniprot
proteins
mutagenesis
MUTAGEN 85; /note="E->K: Reduces GDP-alpha-D-mannose binding affinity but does not affect assembly of GMPPA-GMPPB complex; when associated with A-247. Does not rescue the knockdown phenotype in a zebrafish disease model; when associated with A-247."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 99; /note="R->E: Does not disrupt the interaction with GMPPB or other GMPPA molecules."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 100; /note="D->R: Does not disrupt the interaction with GMPPB or other GMPPA molecules."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 247; /note="Q->A: Reduces GDP-alpha-D-mannose binding affinity but does not affect assembly of GMPPA-GMPPB complex; when associated with K-85. Does not rescue the knockdown phenotype in a zebrafish disease model; when associated with K-85."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 247; /note="Q->D: Does not instate mannose-1-phosphate guanylyltransferase catalytic activity."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 318; /note="R->E: Disrupts the interaction with GMPPB and other GMPPA molecules."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 350; /note="W->A: Disrupts the interaction with GMPPB and other GMPPA molecules and reduces the efficiency of GMPPB allosteric inhibition; when associated with A-352."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 352; /note="R->A: Disrupts the interaction with GMPPB and other GMPPA molecules and reduces the efficiency of GMPPB allosteric inhibition; when associated with A-350."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 362..365; /note="PNDP->AADA: Reduces the interaction with GMPPB and decreases efficiency of GMPPB inhibition."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 372; /note="E->A: Reduces the efficiency of GMPPB allosteric inhibition."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 372; /note="E->R: Disrupts the interaction with other GMPPA molecules slightly but not with GMPPB."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 396; /note="E->R: Disrupts the interaction with other GMPPA molecules but not with GMPPB."; /evidence="ECO:0000269|PubMed:33986552"; MUTAGEN 408; /note="K->E: Does not disrupt the interaction with GMPPB or other GMPPA molecules."; /evidence="ECO:0000269|PubMed:33986552
uniprot
proteins
protein_family
Transferase hexapeptide repeat family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24035193
uniprot
proteins
pubmed
33986552
uniprot
proteins
sequence_length
420
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24035193}. Note=Myc-tagged GMPPA shows a diffuse cytoplasmic and nuclear pattern in transfected COS-7 cells.
uniprot
proteins