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CXorf66 and POMGNT1
Data Source:
BioGRID
(two hybrid)
CXorf66
POMGNT1
Description
chromosome X open reading frame 66
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Image
No pdb structure
GO Annotations
Cellular Component
Integral Component Of Membrane
Golgi Membrane
Integral Component Of Membrane
Integral Component Of Golgi Membrane
Molecular Function
Protein Binding
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 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
12 interacting genes:
AQP6
ASPH
EMD
ERGIC3
LAT
POMGNT1
RPRM
RTP2
STX10
TMEM31
TMX2
YIPF6
11 interacting genes:
BRCA1
CD74
CISD2
CXCL8
CXorf66
ERGIC3
LNX1
RXYLT1
SOX6
TMEM237
ZBTB18
Entrez ID
347487
55624
HPRD ID
18139
09493
Ensembl ID
ENSG00000203933
ENSG00000085998
Uniprot IDs
Q5JRM2
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
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Tagcloud (Difference)
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Tagcloud (Intersection)
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