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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9H3H5 |
| Protein name |
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (EC 2.7.8.15) (GlcNAc-1-P transferase) (G1PT) (GPT) (N-acetylglucosamine-1-phosphate transferase) |
| Protein function |
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly |
| PDB |
5LEV
, 5O5E
, 6BW5
, 6BW6
, 6FM9
, 6FWZ
, 6JQ3
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00953 |
Glycos_transf_4 |
98 → 270 |
Glycosyl transferase family 4 |
Family |
|
| Sequence |
|
| Sequence length |
408 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Abnormality of metabolism/homeostasis |
Likely pathogenic; Pathogenic |
rs768416381 |
RCV001814361 |
| Congenital disorder of glycosylation |
Likely pathogenic; Pathogenic |
rs1185483085, rs768656482, rs397515327, rs1946406410, rs1210999092, rs777142166, rs1946508324, rs1946512581 |
RCV001291276 RCV001291076 RCV001291448 RCV001291273 RCV001291451 RCV001291400 RCV001291452 RCV001291447 |
| Congenital myasthenic syndrome 13 |
Likely pathogenic; Pathogenic |
rs768416381, rs2134898234, rs1946485389, rs776720609, rs2134901573, rs2134903748, rs2134919748, rs1403123573, rs762750243, rs2497529439, rs2497501143, rs1057521151, rs387907243, rs376039938, rs397515321, rs387907244, rs387907245, rs1185483085, rs768656482, rs1555207826, rs1315559074 View all (6 more) |
RCV002568239 RCV001730009 RCV001808077 RCV001877426 RCV002035235 RCV002000274 RCV001951610 RCV003223489 RCV003781192 RCV003806121 RCV003813404 RCV000686050 RCV000030601 RCV000030602 RCV000030603 RCV000030604 RCV000030605 RCV000796580 RCV000687708 RCV000685069 RCV000792938 |
| DPAGT1-congenital disorder of glycosylation |
Likely pathogenic; Pathogenic |
rs768416381, rs776720609, rs2134901573, rs2134903748, rs2134919748, rs2134910617, rs2497528475, rs762750243, rs2497529439, rs2497501143, rs1057521151, rs387907243, rs376039938, rs397515321, rs397514586, rs397515322, rs1185483085, rs768656482, rs1555207826, rs1315559074, rs397515327, rs397515329, rs768464558, rs1450090350 View all (9 more) |
RCV003987875 RCV001877426 RCV002035235 RCV002000274 RCV001951610 RCV002249031 RCV003237327 RCV003781192 RCV003806121 RCV003813404 RCV000686050 RCV001852609 RCV001224025 RCV003764646 RCV000032992 RCV000032993 RCV000796580 RCV000687708 RCV000685069 RCV000792938 RCV000055659 RCV000055661 RCV000988759 RCV000995756 |
| Myopathy with tubular aggregates |
Pathogenic |
rs972565409 |
RCV004587622 |
|
|
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| Disease Name |
Relationship Type |
References |
| Alcohol Related Disorders |
Associate |
23249953 |
| Brain Diseases |
Associate |
23249953 |
| Breast Neoplasms |
Associate |
37463446 |
| Carcinoma Squamous Cell |
Stimulate |
19549906 |
| Congenital disorder of glycosylation type 1J |
Associate |
23591138 |
| Congenital Disorders of Glycosylation |
Associate |
23249953, 26805780, 33407696 |
| Epilepsy |
Associate |
23249953 |
| Facial Dysmorphism with Multiple Malformations |
Associate |
23249953 |
| Intellectual Disability |
Associate |
23249953, 24759841 |
| Lymphoma B Cell |
Associate |
24069324 |
| Lymphoma Mantle Cell |
Associate |
24069324 |
| Lymphoma Non Hodgkin |
Associate |
24069324 |
| Microcephaly |
Associate |
23249953 |
| Mouth Neoplasms |
Associate |
19549906, 22341307 |
| Multiple System Atrophy |
Associate |
23404334, 23591138 |
| Muscle Hypotonia |
Associate |
23249953 |
| Muscle Weakness |
Associate |
23591138 |
| Muscular Diseases |
Associate |
24759841 |
| Muscular Dystrophies Limb Girdle |
Associate |
22742743, 23591138 |
| Myasthenic Syndromes Congenital |
Associate |
22742743, 23404334, 23447650, 23591138, 24759841, 26789134, 37721175 |
| Myopathies Structural Congenital |
Associate |
24759841 |
| Neoplasm Metastasis |
Associate |
23703614 |
| Neoplasms |
Associate |
23703614, 32886511 |
| Neuromuscular Diseases |
Associate |
23447650 |
| Neuromuscular Junction Diseases |
Associate |
23591138, 37721175 |
| Pancreatic Neoplasms |
Associate |
32886511 |
| Signs and Symptoms |
Associate |
23591138 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
19549906, 22341307, 23703614, 32901097 |
| Stuttering |
Associate |
20147709 |
| Uterine Cervical Neoplasms |
Associate |
32306508 |
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