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POMGNT1 and ZBTB18
Data Source:
BioGRID
(two hybrid)
POMGNT1
ZBTB18
Description
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
zinc finger and BTB domain containing 18
Image
No pdb structure
GO Annotations
Cellular Component
Golgi Membrane
Integral Component Of Membrane
Integral Component Of Golgi Membrane
Heterochromatin
Nucleus
Nucleoplasm
Nuclear Speck
Molecular Function
Protein Binding
Acetylglucosaminyltransferase Activity
Manganese Ion Binding
Beta-1,3-galactosyl-O-glycosyl-glycoprotein Beta-1,3-N-acetylglucosaminyltransferase Activity
RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding
DNA-binding Transcription Factor Activity, RNA Polymerase II-specific
DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific
DNA Binding
Protein Binding
Sequence-specific DNA Binding
Metal Ion Binding
Sequence-specific Double-stranded DNA Binding
Biological Process
Protein O-linked Glycosylation
O-glycan Processing
Protein Phosphopantetheinylation
Negative Regulation Of Transcription By RNA Polymerase II
Regulation Of Transcription By RNA Polymerase II
Skeletal Muscle Tissue Development
Negative Regulation Of Transcription, DNA-templated
Positive Regulation Of Transcription By RNA Polymerase II
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
)
Adventurousness (
30643258
)
General risk tolerance (MTAG) (
30643258
)
Mercury levels (
26025379
)
Interacting Genes
11 interacting genes:
BRCA1
CD74
CISD2
CXCL8
CXorf66
ERGIC3
LNX1
RXYLT1
SOX6
TMEM237
ZBTB18
10 interacting genes:
CTBP1
CTBP2
DNMT3A
DNMT3B
MYLIP
PAK1
PIK3R3
POMGNT1
TSN
ZBTB2
Entrez ID
55624
10472
HPRD ID
09493
12231
Ensembl ID
ENSG00000085998
ENSG00000179456
Uniprot IDs
B7Z7F2
B7Z7Q4
Q8WZA1
Q99592
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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