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AIRE and HEXB
Number of citations of the paper that reports this interaction (PubMedID
35914814
)
83
Data Source:
BioGRID
(two hybrid)
AIRE
HEXB
Description
autoimmune regulator
hexosaminidase subunit beta
Image
GO Annotations
Cellular Component
Male Germ Cell Nucleus
Female Germ Cell Nucleus
Nucleus
Cytoplasm
Nuclear Body
Acrosomal Vesicle
Extracellular Region
Extracellular Space
Lysosome
Membrane
Cytoplasmic Vesicle
Azurophil Granule Lumen
Azurophil Granule
Lysosomal Lumen
Cortical Granule
Extracellular Exosome
Beta-N-acetylhexosaminidase Complex
Molecular Function
RNA Polymerase II Transcription Regulatory Region Sequence-specific DNA Binding
DNA Binding
Chromatin Binding
Protein Binding
Zinc Ion Binding
Histone Binding
Identical Protein Binding
Translation Regulator Activity
Metal Ion Binding
Hydrolase Activity, Hydrolyzing O-glycosyl Compounds
Beta-N-acetylhexosaminidase Activity
Protein Binding
Acetylglucosaminyltransferase Activity
Hexosaminidase Activity
Beta-N-acetylglucosaminidase Activity
Hydrolase Activity
Hydrolase Activity, Acting On Glycosyl Bonds
Carbohydrate Binding
Identical Protein Binding
Protein-containing Complex Binding
Biological Process
Peripheral T Cell Tolerance Induction
Tolerance Induction
Central Tolerance Induction To Self Antigen
Regulation Of DNA-templated Transcription
Transcription By RNA Polymerase II
Regulation Of Translation
Immune Response
Humoral Immune Response
Positive Regulation Of Chemokine Production
Negative Thymic T Cell Selection
Positive Regulation Of DNA-templated Transcription
Positive Regulation Of Transcription By RNA Polymerase II
Thymus Epithelium Morphogenesis
Regulation Of Thymocyte Migration
Skeletal System Development
Carbohydrate Metabolic Process
N-acetylglucosamine Metabolic Process
N-glycan Processing
Lipid Metabolic Process
Glycosphingolipid Metabolic Process
Ganglioside Catabolic Process
Intracellular Calcium Ion Homeostasis
Lysosome Organization
Single Fertilization
Penetration Of Zona Pellucida
Sensory Perception Of Sound
Locomotory Behavior
Male Courtship Behavior
Regulation Of Cell Shape
Phospholipid Biosynthetic Process
Oligosaccharide Catabolic Process
Regulation Of Metabolic Process
Lipid Storage
Sexual Reproduction
Glycosaminoglycan Metabolic Process
Chondroitin Sulfate Proteoglycan Catabolic Process
Dermatan Sulfate Proteoglycan Catabolic Process
Hyaluronan Catabolic Process
Myelination
Astrocyte Cell Migration
Positive Regulation Of Transcription By RNA Polymerase II
Oogenesis
Neuromuscular Process Controlling Balance
Neuromuscular Process
Neuron Cellular Homeostasis
Carbohydrate Derivative Metabolic Process
Pathways
Keratan sulfate degradation
CS/DS degradation
Hyaluronan degradation
Defective HEXB causes GM2G2 (Hyaluronan metabolism)
Neutrophil degranulation
Glycosphingolipid catabolism
Drugs
Pyrimethamine
2-Acetamido-2-Deoxy-D-Glucono-1,5-Lactone
N-Acetyl-glucosamine thiazoline
(2R,3R,4S,5R)-2-acetamido-3,4-dihydroxy-5-hydroxymethyl-piperidine
Diseases
Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
GM2 gangliosidoses, including: Tay-Sachs disease (type I); Sandhoff disease (type II); Tay-Sachs disease AB variant
GWAS
Addison's disease (
33574239
)
Dental caries (decayed, missing and filled teeth) (
31533690
)
Rheumatoid arthritis (
21505073
30423114
)
Type 1 diabetes (
34012112
)
Gut microbiota relative abundance (unassigned genus belonging to family Clostridiales) (
33208821
)
Metabolite levels (
23823483
)
Night sleep phenotypes (
27126917
)
Interacting Genes
8 interacting genes:
ATP5F1A
CREBBP
DAXX
H2BC21
H3C1
HEXB
PICK1
UBAC1
6 interacting genes:
AIRE
CSNK2B
EIF2D
FAM210B
HOXA1
TMEM14B
Entrez ID
326
3074
HPRD ID
06301
06043
Ensembl ID
ENSG00000160224
ENSG00000049860
Uniprot IDs
O43918
A0A024RAJ6
P07686
Q5URX0
PDB IDs
1XWH
2KE1
2KFT
2LRI
1NOU
1NOW
1NP0
1O7A
2GJX
2GK1
3LMY
5BRO
Enriched GO Terms of Interacting Partners
?
P53 Binding
Nucleosome Assembly
Nucleosome Organization
Protein-DNA Complex Assembly
Extracellular Exosome
Chromatin Remodeling
Adenyl Ribonucleotide Binding
Beta-N-acetylglucosaminidase Activity
Male Courtship Behavior
Chromatin Organization
Histone H3K27 Acetyltransferase Activity
Neuron Intrinsic Apoptotic Signaling Pathway In Response To Oxidative Stress
Cellular Response To Diamide
Beta-N-acetylhexosaminidase Complex
Structural Constituent Of Chromatin
Histone H3K18 Acetyltransferase Activity
N-terminal Peptidyl-lysine Acetylation
Peptide Lactyltransferase (CoA-dependent) Activity
Chondroitin Sulfate Proteoglycan Catabolic Process
Hexosaminidase Activity
Nucleosome
Regulation Of Thymocyte Migration
Central Tolerance Induction To Self Antigen
Central Tolerance Induction
Tolerance Induction Dependent Upon Immune Response
Thymus Epithelium Morphogenesis
Peripheral T Cell Tolerance Induction
Protein Kinase CK2 Complex
Symbiont-mediated Disruption Of Host Cell PML Body
Viral Process
Semicircular Canal Formation
Abducens Nerve Formation
Optokinetic Behavior
Identical Protein Binding
Tolerance Induction To Self Antigen
Release From Viral Latency
T Cell Tolerance Induction
Positive Regulation Of Activin Receptor Signaling Pathway
Negative Regulation Of Viral Life Cycle
Adiponectin-activated Signaling Pathway
Formation Of Translation Preinitiation Complex
Embryonic Neurocranium Morphogenesis
Outer Ear Morphogenesis
Negative Thymic T Cell Selection
Negative T Cell Selection
Female Germ Cell Nucleus
Tube Morphogenesis
Endothelial Tube Morphogenesis
IRES-dependent Viral Translational Initiation
Tagcloud
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Tagcloud (Difference)
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Tagcloud (Intersection)
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