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POMGNT1 and CXorf66
Data Source:
BioGRID
(two hybrid)
POMGNT1
CXorf66
Description
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
chromosome X open reading frame 66
Image
No pdb structure
GO Annotations
Cellular Component
Golgi Membrane
Integral Component Of Membrane
Integral Component Of Golgi Membrane
Integral Component Of 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
Biological Process
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
11 interacting genes:
BRCA1
CD74
CISD2
CXCL8
CXorf66
ERGIC3
LNX1
RXYLT1
SOX6
TMEM237
ZBTB18
12 interacting genes:
AQP6
ASPH
EMD
ERGIC3
LAT
POMGNT1
RPRM
RTP2
STX10
TMEM31
TMX2
YIPF6
Entrez ID
55624
347487
HPRD ID
09493
18139
Ensembl ID
ENSG00000085998
ENSG00000203933
Uniprot IDs
B7Z7F2
B7Z7Q4
Q8WZA1
Q5JRM2
PDB IDs
5GGF
5GGG
5GGI
5GGJ
5GGK
5GGL
5GGN
5GGO
5GGP
5XFC
Enriched GO Terms of Interacting Partners
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Tagcloud
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Tagcloud (Difference)
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Tagcloud (Intersection)
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