HEXB and AIRE

Number of citations: 83 (PubMedID 35914814)
Data Source: BioGRID (two hybrid)

		HEXB	AIRE
Name		hexosaminidase subunit beta	autoimmune regulator
Structure
GO Annotations	Cellular Component	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	Male Germ Cell Nucleus Female Germ Cell Nucleus Nucleus Cytoplasm Nuclear Body
	Molecular Function	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	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
	Biological Process	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	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
Pathways		Keratan sulfate degradation CS/DS degradation Hyaluronan degradation Defective HEXB causes GM2G2 (Hyaluronan metabolism) Neutrophil degranulation Glycosphingolipid catabolism	None
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	None
Diseases		GM2 gangliosidoses, including: Tay-Sachs disease (type I); Sandhoff disease (type II); Tay-Sachs disease AB variant	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)
GWAS		Gut microbiota relative abundance (unassigned genus belonging to family Clostridiales) ( 33208821 ) Metabolite levels ( 23823483 ) Night sleep phenotypes ( 27126917 )	Addison's disease ( 33574239 ) Dental caries (decayed, missing and filled teeth) ( 31533690 ) Rheumatoid arthritis ( 21505073 30423114 ) Type 1 diabetes ( 34012112 )
Novel Interactors		None recorded	1 novel interactors: PTTG1IP
Interacting Genes		6 interacting genes: AIRE CSNK2B EIF2D FAM210B HOXA1 TMEM14B	8 interacting genes: ATP5F1A CREBBP DAXX H2BC21 H3C1 HEXB PICK1 UBAC1
Entrez ID		3074	326
HPRD ID		06043	06301
Ensembl ID		ENSG00000049860	ENSG00000160224
Uniprot IDs		A0A024RAJ6 P07686 Q5URX0	O43918
PDB IDs		1NOU 1NOW 1NP0 1O7A 2GJX 2GK1 3LMY 5BRO	1XWH 2KE1 2KFT 2LRI
GO Terms Enriched among Interactors		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	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