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RXYLT1 and POMGNT1
Data Source:
BioGRID
(two hybrid)
RXYLT1
POMGNT1
Description
ribitol xylosyltransferase 1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Image
No pdb structure
GO Annotations
Cellular Component
Golgi Membrane
Nucleoplasm
Golgi Apparatus
Integral Component Of Plasma Membrane
Golgi Membrane
Integral Component Of Membrane
Integral Component Of Golgi Membrane
Molecular Function
Protein Binding
Ribitol Beta-1,4-xylosyltransferase Activity
Protein Binding
Acetylglucosaminyltransferase Activity
Manganese Ion Binding
Beta-1,3-galactosyl-O-glycosyl-glycoprotein Beta-1,3-N-acetylglucosaminyltransferase Activity
Biological Process
Protein O-linked Mannosylation
Protein O-linked Glycosylation
O-glycan Processing
Protein Phosphopantetheinylation
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
2 interacting genes:
GPR3
POMGNT1
11 interacting genes:
BRCA1
CD74
CISD2
CXCL8
CXorf66
ERGIC3
LNX1
RXYLT1
SOX6
TMEM237
ZBTB18
Entrez ID
10329
55624
HPRD ID
12057
09493
Ensembl ID
ENSG00000118600
ENSG00000085998
Uniprot IDs
G3V1K2
Q9Y2B1
B7Z7F2
B7Z7Q4
Q8WZA1
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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