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POMGNT1 and RXYLT1
Data Source:
BioGRID
(two hybrid)
POMGNT1
RXYLT1
Description
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ribitol xylosyltransferase 1
Image
No pdb structure
GO Annotations
Cellular Component
Golgi Membrane
Integral Component Of Membrane
Integral Component Of Golgi Membrane
Golgi Membrane
Nucleoplasm
Golgi Apparatus
Integral Component Of Plasma Membrane
Molecular Function
Protein Binding
Acetylglucosaminyltransferase Activity
Manganese Ion Binding
Beta-1,3-galactosyl-O-glycosyl-glycoprotein Beta-1,3-N-acetylglucosaminyltransferase Activity
Protein Binding
Ribitol Beta-1,4-xylosyltransferase Activity
Biological Process
Protein O-linked Glycosylation
O-glycan Processing
Protein Phosphopantetheinylation
Protein O-linked Mannosylation
Pathways
Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3
O-linked glycosylation
Drugs
Diseases
Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
Dystroglycanopathy; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama congenital muscular dystrophy (FCMD); Congenital muscular dystrophy with muscle hypertrophy (MDC1C); Congenital muscular dystrophy with severe intellectual impairment and abnormal glycosylation (MDC1D)
Limb-girdle muscular dystrophy (LGMD)
GWAS
Body mass index (
26426971
)
Interacting Genes
11 interacting genes:
BRCA1
CD74
CISD2
CXCL8
CXorf66
ERGIC3
LNX1
RXYLT1
SOX6
TMEM237
ZBTB18
2 interacting genes:
GPR3
POMGNT1
Entrez ID
55624
10329
HPRD ID
09493
12057
Ensembl ID
ENSG00000085998
ENSG00000118600
Uniprot IDs
B7Z7F2
B7Z7Q4
Q8WZA1
G3V1K2
Q9Y2B1
PDB IDs
5GGF
5GGG
5GGI
5GGJ
5GGK
5GGL
5GGN
5GGO
5GGP
5XFC
Enriched GO Terms of Interacting Partners
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Tagcloud (Difference)
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Tagcloud (Intersection)
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