POMGNT1
entrez
55624
canonical
uniprot
Q8WZA1
canonical
ensembl
ENSG00000085998
resolver
ensp
ENSP00000361052
resolver
ensp
ENSP00000361060
resolver
ensp
ENSP00000379698
resolver
ensp
ENSP00000508453
resolver
ensp
ENSP00000508736
resolver
enst
ENST00000692369
resolver
genesymbol
POMGNT1
resolver
genesymbol_syn
MGAT1.2
resolver
hgnc
HGNC:19139
resolver
uniprot
A0A8I5KNB7
resolver
uniprot
B7Z7F2
resolver
uniprot
B7Z7Q4
resolver
uniprot
D3DQ16
resolver
uniprot
Q5VST2
resolver
uniprot
Q5VST3
resolver
uniprot
Q9BV55
resolver
uniprot
Q9H9L8
resolver
uniprot
Q9NXF9
resolver
uniprot
Q9NYF7
resolver
uniprot_entry
A0A8I5KNB7_HUMAN
resolver
uniprot_entry
B7Z7F2_HUMAN
resolver
uniprot_entry
B7Z7Q4_HUMAN
resolver
uniprot_entry
PMGT1_HUMAN
resolver
uniprot_sec
D3DQ16
resolver
uniprot_sec
Q5VST2
resolver
uniprot_sec
Q5VST3
resolver
uniprot_sec
Q9BV55
resolver
uniprot_sec
Q9H9L8
resolver
uniprot_sec
Q9NXF9
resolver
uniprot_sec
Q9NYF7
resolver
amino_acid_sequence
MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAVLFLLVTVIVNIKLILDTRRAISEANEDPEPEQDYDEALGRLEPPRRRGSGPRRVLDVEVYSSRSKVYVAVDGTTVLEDEAREQGRGIHVIVLNQATGHVMAKRVFDTYSPHEDEAMVLFLNMVAPGRVLICTVKDEGSFHLKDTAKALLRSLGSQAGPALGWRDTWAFVGRKGGPVFGEKHSKSPALSSWGDPVLLKTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYGSVCSCKDPTPIEFSPDPLPDNKVLNVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMITVFIDGYYEEPMDVVALFGLRGIQHTPISIKNARVSQHYKASLTATFNLFPEAKFAVVLEEDLDIAVDFFSFLSQSIHLLEEDDSLYCISAWNDQGYEHTAEDPALLYRVETMPGLGWVLRRSLYKEELEPKWPTPEKLWDWDMWMRMPEQRRGRECIIPDVSRSYHFGIVGLNMNGYFHEAYFKKHKFNTVPGVQLRNVDSLKKEAYEVEVHRLLSEAEVLDHSKNPCEDSFLPDTEGHTYVAFIRMEKDDDFTTWTQLAKCLHIWDLDVRGNHRGLWRLFRKKNHFLMVGVPASPYSVKKPPSVTPIFLEPPPKEEGAPGAPEQT
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3) [MIM:253280]: An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, intellectual disability, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:11709191, ECO:0000269|PubMed:12588800, ECO:0000269|PubMed:12788071, ECO:0000269|PubMed:15207699, ECO:0000269|PubMed:15236414, ECO:0000269|PubMed:15466003, ECO:0000269|PubMed:17030669, ECO:0000269|PubMed:19067344}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3 (MDDGB3) [MIM:613151]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. Clinical features include intellectual disability, white matter changes, cerebellar cysts, pontine hypoplasia, myopia, optic atrophy, decreased alpha-dystroglycan on muscle biopsy and increased serum creatine kinase. {ECO:0000269|PubMed:17030669, ECO:0000269|PubMed:19067344, ECO:0000269|PubMed:19299310}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy-dystroglycanopathy limb-girdle C3 (MDDGC3) [MIM:613157]: A rare form of limb-girdle muscular dystrophy with normal cognition. Muscle biopsy shows dystrophic changes with variable staining for glycosylated alpha-dystroglycan. {ECO:0000269|PubMed:18195152}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 76 (RP76) [MIM:617123]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP76 inheritance is autosomal recessive. {ECO:0000269|PubMed:26908613, ECO:0000269|PubMed:27391550}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.-
uniprot
proteins
function
FUNCTION: Participates in O-mannosyl glycosylation by catalyzing the addition of N-acetylglucosamine to O-linked mannose on glycoproteins (PubMed:11709191, PubMed:27493216, PubMed:28512129). Catalyzes the synthesis of the GlcNAc(beta1-2)Man(alpha1-)O-Ser/Thr moiety on alpha-dystroglycan and other O-mannosylated proteins, providing the necessary basis for the addition of further carbohydrate moieties (PubMed:11709191, PubMed:27493216). Is specific for alpha linked terminal mannose and does not have MGAT3, MGAT4, MGAT5, MGAT7 or MGAT8 activity. {ECO:0000269|PubMed:11709191, ECO:0000269|PubMed:11742540, ECO:0000269|PubMed:26908613, ECO:0000269|PubMed:27391550, ECO:0000269|PubMed:27493216, ECO:0000269|PubMed:28512129}.
uniprot
proteins
mass_dalton
75252
uniprot
proteins
mutagenesis
MUTAGEN 1..65; /note="Missing: Gives rise to a soluble form."; /evidence="ECO:0000269|PubMed:11709191"; MUTAGEN 129; /note="R->A: Decreased protein stability. Decreased enzyme activity."; /evidence="ECO:0000269|PubMed:27493216"; MUTAGEN 179; /note="D->A: Moderately increased enzyme activity. Decreased affinity for N-acetylglucosamine."; /evidence="ECO:0000269|PubMed:27493216"; MUTAGEN 207; /note="R->A: Decreased enzyme activity. Impairs protein stability."; /evidence="ECO:0000269|PubMed:27493216"; MUTAGEN 473; /note="W->A: Abolishes in vitro enzyme activity; when associated with A-477."; /evidence="ECO:0000269|PubMed:27493216"; MUTAGEN 474; /note="D->A: Nearly abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:27493216"; MUTAGEN 477; /note="M->A: Abolishes in vitro enzyme activity; when associated with A-473."; /evidence="ECO:0000269|PubMed:27493216"; MUTAGEN 481; /note="M->A: Decreased enzyme activity."; /evidence="ECO:0000269|PubMed:27493216"; MUTAGEN 507; /note="N->A: Abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:27493216"; MUTAGEN 600; /note="W->A: Abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:27493216
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:11709191, ECO:0000269|PubMed:11742540, ECO:0000269|PubMed:26908613, ECO:0000269|PubMed:27391550, ECO:0000269|PubMed:27493216}.
uniprot
proteins
protein_family
Glycosyltransferase 13 family
uniprot
proteins
pubmed
11709191
uniprot
proteins
pubmed
11742540
uniprot
proteins
pubmed
12588800
uniprot
proteins
pubmed
12788071
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15207699
uniprot
proteins
pubmed
15236414
uniprot
proteins
pubmed
15466003
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17030669
uniprot
proteins
pubmed
17034757
uniprot
proteins
pubmed
18195152
uniprot
proteins
pubmed
19067344
uniprot
proteins
pubmed
19299310
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26908613
uniprot
proteins
pubmed
27391550
uniprot
proteins
pubmed
27493216
uniprot
proteins
pubmed
28512129
uniprot
proteins
sequence_length
660
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:17034757, ECO:0000303|PubMed:11709191}; Single-pass type II membrane protein {ECO:0000305|PubMed:11709191}.
uniprot
proteins
transmembrane_region
TRANSMEM 38..58; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins