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NGLY1 and GJB2
NGLY1
GJB2
Description
N-glycanase 1
gap junction protein beta 2
Image
GO Annotations
Cellular Component
Nucleus
Cytoplasm
Cytosol
Endoplasmic Reticulum-Golgi Intermediate Compartment
Plasma Membrane
Gap Junction
Connexin Complex
Membrane
Anchoring Junction
Molecular Function
Peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine Amidase Activity
Protein Binding
Hydrolase Activity
Metal Ion Binding
Gap Junction Channel Activity
Calcium Ion Binding
Protein Binding
Identical Protein Binding
Metal Ion Binding
Gap Junction Channel Activity Involved In Cell Communication By Electrical Coupling
Biological Process
Protein Folding
Glycoprotein Catabolic Process
Positive Regulation Of BMP Signaling Pathway
Cell Communication
Cell-cell Signaling
Sensory Perception Of Sound
Cell Communication By Electrical Coupling
Gap Junction Assembly
Transmembrane Transport
Gap Junction-mediated Intercellular Transport
Pathways
N-glycan trimming in the ER and Calnexin/Calreticulin cycle
Oligomerization of connexins into connexons
Transport of connexins along the secretory pathway
Gap junction assembly
Transport of connexons to the plasma membrane
Drugs
Diseases
Deafness, autosomal recessive
Keratitis-ichthyosis-deafness syndrome
Vohwinkel syndrome, including: Vohwinkel syndrome (VS); Vohwinkel syndrome with ichthyosis
Deafness, autosomal dominant
Palmoplantar keratoderma with deafness
GWAS
Facial emotion recognition (happy faces) (
28608620
)
Interacting Genes
19 interacting genes:
APP
BICRAL
FAF1
GUCD1
NPAS2
NSFL1C
PAX5
PAX6
RAD23A
RAD23B
SRPK2
TCF12
TRAFD1
TRIM54
UBC
UBQLN1
UBXN2B
VCP
VMAC
44 interacting genes:
AMIGO1
APLNR
AQP6
ARL13B
CAV1
CD14
CNST
CREB3
EBP
ERGIC3
FAM209A
FFAR2
GJA5
GJA8
GJB1
GJB6
GPR152
GPR42
HSD17B13
KCNK5
KLRC1
LHFPL5
LMNA
LRRC4C
MFSD6
MS4A6E
PEX12
PLEKHB2
SAR1A
SHISAL1
SLC10A6
SLC18A1
SLC30A2
SSMEM1
TBXA2R
TEX29
TIMMDC1
TLCD4
TM2D2
TMEM106A
TMEM237
TMEM31
TMX2
TRHR
Entrez ID
55768
2706
HPRD ID
10118
00413
Ensembl ID
ENSG00000151092
ENSG00000165474
Uniprot IDs
Q96IV0
H9U1J4
P29033
PDB IDs
2CCQ
2CM0
2ZW3
3IZ1
3IZ2
5ER7
5ERA
5KJ3
5KJG
6UVR
6UVS
6UVT
7QEO
7QEQ
7QER
7QES
7QET
7QEU
7QEV
7QEW
7QEY
8Q9Z
8QA0
8QA1
8QA2
8QA3
Enriched GO Terms of Interacting Partners
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Polyubiquitin Modification-dependent Protein Binding
Ubiquitin Binding
Modification-dependent Protein Catabolic Process
Proteasome Complex
VCP-NSFL1C Complex
Negative Regulation Of Protein Localization To Centrosome
Proteolysis Involved In Protein Catabolic Process
Proteasomal Protein Catabolic Process
Positive Regulation Of Mitotic Centrosome Separation
Positive Regulation Of Protein Catabolic Process
Ubiquitin-dependent Protein Catabolic Process
Regulation Of Protein Catabolic Process
Establishment Of Mitotic Spindle Orientation
Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process
Protein Catabolic Process
Establishment Of Mitotic Spindle Localization
Establishment Of Spindle Orientation
Microtubule Cytoskeleton Organization Involved In Mitosis
Proteolysis
Regulation Of Mitotic Centrosome Separation
VCP-NPL4-UFD1 AAA ATPase Complex
Establishment Of Spindle Localization
Spindle Localization
Macromolecule Catabolic Process
Positive Regulation Of Cell Cycle
HMG Box Domain Binding
Regulation Of Protein Localization To Centrosome
Positive Regulation Of Proteolysis
Regulation Of Proteolysis
Regulation Of Proteasomal Protein Catabolic Process
Negative Regulation Of Protein Localization
Proteasome Binding
Ubiquitin-specific Protease Binding
ERAD Pathway
Autophagosome Assembly
Autophagosome Organization
Negative Regulation Of Hippo Signaling
Nuclear Membrane Reassembly
Positive Regulation Of Proteasomal Protein Catabolic Process
Positive Regulation Of Viral Genome Replication
Response To Stress
Microtubule-based Process
Ubiquitin Protein Ligase Binding
Positive Regulation Of Proteolysis Involved In Protein Catabolic Process
Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process
Amyloid-beta Complex
Growth Cone Lamellipodium
Positive Regulation Of Catabolic Process
Central Nervous System Development
Regulation Of Response To Calcium Ion
Membrane
Connexin Complex
Gap Junction Channel Activity
Gap Junction
Gap Junction Assembly
Protein Binding
Plasma Membrane
Innate Immune Response Activating Cell Surface Receptor Signaling Pathway
Positive Regulation Of Vasoconstriction
Connexin Binding
Atrioventricular Valve Development
Gap Junction-mediated Intercellular Transport
Regulation Of Gap Junction Assembly
Intercellular Transport
G Protein-coupled Receptor Activity
Negative Regulation Of Cardiac Muscle Hypertrophy In Response To Stress
Cell Surface Pattern Recognition Receptor Signaling Pathway
Regulation Of Muscle System Process
Transmembrane Transport
Regulation Of Vasoconstriction
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