KLHDC3 and HLA-DQA1

		KLHDC3	HLA-DQA1
Description		kelch domain containing 3	major histocompatibility complex, class II, DQ alpha 1
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GO Annotations	Cellular Component	Chromatin Nucleoplasm Cytoplasm Cytosol Cul2-RING Ubiquitin Ligase Complex	Golgi Membrane Lysosome Lysosomal Membrane Endosome Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus Plasma Membrane Endosome Membrane ER To Golgi Transport Vesicle Membrane Membrane Transport Vesicle Membrane Endocytic Vesicle Membrane Clathrin-coated Endocytic Vesicle Membrane Late Endosome Membrane Trans-Golgi Network Membrane MHC Class II Protein Complex Lumenal Side Of Endoplasmic Reticulum Membrane
	Molecular Function	Chromatin Binding Protein Binding Ubiquitin-like Ligase-substrate Adaptor Activity	Protein Binding MHC Class II Protein Complex Binding MHC Class II Receptor Activity Peptide Antigen Binding
	Biological Process	Reciprocal Meiotic Recombination Protein Ubiquitination Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Meiotic Cell Cycle Ubiquitin-dependent Protein Catabolic Process Via The C-end Degron Rule Pathway	Adaptive Immune Response Immune System Process Peptide Antigen Assembly With MHC Class II Protein Complex Antigen Processing And Presentation Of Peptide Or Polysaccharide Antigen Via MHC Class II Immune Response Antigen Processing And Presentation Antigen Processing And Presentation Of Exogenous Peptide Antigen Via MHC Class II Positive Regulation Of Immune Response Positive Regulation Of T Cell Activation
Pathways		XBP1(S) activates chaperone genes	Downstream TCR signaling Phosphorylation of CD3 and TCR zeta chains Translocation of ZAP-70 to Immunological synapse Generation of second messenger molecules MHC class II antigen presentation Co-inhibition by PD-1 Interferon gamma signaling
Drugs
Diseases			Systemic lupus erythematosus Graves' disease Hashimoto's thyroiditis Dilated cardiomyopathy (DCM) Type I diabetes mellitus
GWAS			A body shape index ( 34021172) Adult asthma ( 30578877) Aging traits (healthspan, parental lifespan or longevity) (multivariate analysis) ( 32678081) Alanine aminotransferase levels ( 33547301) Allergic disease (asthma, hay fever and/or eczema) (age of onset) ( 32603359) Allergic disease (asthma, hay fever or eczema) ( 29083406 29785011) Allergic rhinitis ( 30013184) Allergic sensitization ( 23817571) Allergy ( 27182965) Anti-Epstein-Barr virus nuclear antigen (EBNA) IgG levels ( 32737300) Anti-polyomavirus 2 IgG seropositivity ( 33204752) Antineutrophil cytoplasmic antibody-associated vasculitis ( 28029757) Apolipoprotein B levels ( 32203549) Asparaginase hypersensitivity in acute lymphoblastic leukemia ( 33768542) Aspartate aminotransferase levels ( 33339817 33547301) Asthma ( 23181788 27182965 29273806 30929738 31361310 31619474 31959851 32296059 34103634) Asthma (adult onset) ( 31036433) Asthma (childhood onset) ( 31036433) Asthma (moderate or severe) ( 30552067) Asthma (time to onset) ( 27130862) Asthma and major depressive disorder ( 31619474) Asthma or allergic disease (pleiotropy) ( 29785011) Atopic dermatitis ( 26482879) Autism spectrum disorder or schizophrenia ( 28540026) Autoimmune hepatitis in primary sclerosing cholangitis ( 28779025) Autoimmune hepatitis type-1 ( 24768677) Autoimmune thyroid disease ( 32581359) Basal cell carcinoma ( 31174203 33549134) Body mass index ( 28892062) C-reactive protein levels ( 30388399) Celiac disease ( 17558408 20190752) Cervical cancer ( 23482656 28806749) Cervical intraepithelial neoplasia grade 3 ( 33794208) Cervical intraepithelial neoplasia grade 3 and invasive cervical cancer ( 33794208) Childhood asthma with severe exacerbations ( 33328473) Childhood ear infection ( 27182965 28928442) Childhood steroid-sensitive nephrotic syndrome ( 29903748 31263063) Chronic hepatitis C infection ( 24376798) Chronic lymphocytic leukemia ( 21131588) Chronic obstructive pulmonary disease ( 33909500) Chronic rhinosinusitis ( 30643255) Composite immunoglobulin trait (IgA x IgG x IgM) ( 28628107) Creatinine levels ( 29403010) Crohn's disease ( 23266558 23850713 26891255) Cutaneous lupus erythematosus ( 25827949) Cutaneous squamous cell carcinoma ( 32041948) Drug-induced liver injury (flucloxacillin) ( 30661239) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Eosinophil count ( 32888494) Epstein Barr virus nuclear antigen 1 IgG levels ( 26819262 29868224) Epstein Barr virus nuclear antigen 1 IgG seropositivity ( 29868224) Epstein-Barr virus EBNA-1 antibody levels ( 33204752) Epstein-Barr virus immune response (multivariate analysis) ( 29868224) Epstein-Barr virus VCA p18 antibody levels ( 33204752) Epstein-Barr virus ZEBRA antibody levels ( 33204752) Estimated glomerular filtration rate ( 30604766) Factor VIII levels ( 30586737) Giant cell arteritis ( 25817017 28041642) Glomerular filtration rate ( 29403010) Granulocyte percentage of myeloid white cells ( 27863252) Hand grip strength ( 29691431) Hematocrit ( 27863252) Hemoglobin levels ( 32327693) Hepatocellular carcinoma ( 22807686) High density lipoprotein cholesterol levels ( 29403010) Hip circumference adjusted for BMI ( 34021172) Human herpes virus 6 IE1A antibody levels ( 33204752) Human herpes virus 7 U14 antibody levels ( 33204752) Hypothyroidism ( 22493691 27182965) Idiopathic membranous nephropathy ( 21323541) IgA nephropathy ( 25305756 26028593) Immune response to anthrax vaccine ( 22658931) Immunoglobulin A vasculitis ( 28698626) Immunoglobulin G index levels in multiple sclerosis ( 25616667) Inflammatory bowel disease ( 18758464 28008999 28067908) Intraocular pressure ( 29785010) Itch intensity from mosquito bite adjusted by bite size ( 28199695) Keratinocyte cancer (MTAG) ( 31174203) Late-onset myasthenia gravis ( 26562150) Leishmaniasis (visceral) ( 23291585) Leprosy ( 32421744) Low density lipoprotein cholesterol levels ( 32154731) Lung adenocarcinoma ( 28604730) Lung cancer ( 28604730 31577861) Lymphocyte count ( 29403010 32888494) Lymphocyte percentage of white cells ( 32888494) Lymphoma ( 23349640) Mean corpuscular hemoglobin ( 32888494) Medication use (adrenergics, inhalants) ( 31015401) Medication use (glucocorticoids) ( 31015401) Membranous nephropathy ( 27333618) Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection ( 25030430) Monocyte percentage of white cells ( 32888494) Multiple sclerosis (OCB status) ( 23472185) Myasthenia gravis ( 25643325) Myositis ( 26291516) Nasal polyps ( 30643255) Nephropathy ( 21399633) Neuroblastoma or malignant cutaneous melanoma ( 31605138) Neuromyelitis optica ( 29769526 32792643) Neuromyelitis optica (AQP4-IgG-positive) ( 29769526) Neutrophil percentage of granulocytes ( 27863252) Neutrophil percentage of white cells ( 27863252 32888494) Oligoclonal band status in multiple sclerosis ( 25616667) Oropharynx cancer ( 32276964) Parental lifespan ( 29030599 30642433) Parental longevity (combined parental attained age, Martingale residuals) ( 29227965) Parental longevity (mother's attained age) ( 29227965) Parkinson's disease ( 27182965 28892059) Peanut allergy ( 25710614) PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia ( 30450575) Plantar warts ( 28928442) Pneumonia ( 28928442) Primary biliary cirrhosis ( 22961000) Primary sclerosing cholangitis ( 23603763) Prostate cancer ( 23535732) Red blood cell count ( 27863252) Refractive error ( 32231278) Response to hepatitis B vaccine ( 29534301) Response to interferon beta therapy ( 21502966) Rheumatoid arthritis ( 18668548 23918589) Rheumatoid arthritis (ACPA-negative) ( 24532677) Rosacea symptom severity ( 29771307) Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome) ( 26651848) Sarcoidosis (non-Lofgren's syndrome without extrapulmonary manifestations) ( 26651848) Scarlet fever ( 28928442) Schizophrenia ( 19571809 23212062) Selective IgA deficiency ( 27723758) Self-reported allergy ( 23817569) Serum alkaline phosphatase levels ( 33547301) Severe autoimmune type 2 diabetes ( 34737425) Shingles ( 28928442) Sjögren's syndrome ( 24097066 24097067 28076899) Small cell lung carcinoma ( 28604730) Squamous cell carcinoma ( 26829030 31174203) Squamous cell lung carcinoma ( 28604730) Strep throat ( 28928442) Systemic lupus erythematosus ( 18204098 21408207 24871463 26316170 26606652 32771030) Systemic sclerosis ( 21779181) Takayasu arteritis ( 25604533) Thyroid stimulating hormone levels ( 32769997) Tonsillectomy ( 28928442) Total bilirubin levels ( 29403010) Triglyceride levels ( 32203549) Tuberculosis ( 28928442) Type 1 diabetes (age at diagnosis) ( 33179336) Type 2 diabetes ( 28566273) Ulcerative colitis ( 19122664 21297633 23128233 23511034 24837172 26278503 28008999 28067908) Urate levels ( 31578528) Varicella zoster virus glycoproteins E and I antibody levels ( 33204752) Vitiligo ( 20410501 27723757) Vogt-Koyanagi-Harada syndrome ( 25108386) Waist circumference adjusted for body mass index ( 34021172) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 34021172) White blood cell count ( 32888494)
Interacting Genes		2 interacting genes: ENAH UBC	9 interacting genes: APLP1 CD74 CDK7 HLA-DQB1 IKBKG LRIF1 SH3GL2 TLE1 UNC119
Entrez ID		116138	3117
HPRD ID		13922	06765
Ensembl ID		ENSG00000124702	ENSG00000196735
Uniprot IDs		Q9BQ90	A0A173ADG5 A0A346FLH4 A0A649ZVH5 L8E864 P01909 Q5Y7C6 Q5Y7H0 Q8MH44
PDB IDs		9D1I 9D1Y 9D1Z	1JK8 1S9V 1UVQ 2NNA 3PL6 4D8P 4GG6 4OZF 4OZG 4OZH 4OZI 5KS9 5KSA 5KSB 5KSU 5KSV 6MFF 6MFG 6U3M 6U3N 6XP6 7SG0 7SG1 7SG2 8VSP 8W83 8W84 8W85 8W86
Enriched GO Terms of Interacting Partners?		Endocytic Vesicle Membrane Sperm Flagellum Cilium Movement Cilium Movement Involved In Cell Motility Radial Spoke Head 1 Radial Spoke Assembly Radial Spoke Head 3 Motile Cilium Axonemal Central Apparatus Assembly Radial Spoke Head Actin Polymerization-dependent Cell Motility Endosome Membrane MHC Class II Receptor Activity Kinocilium Profilin Binding Cell Projection Radial Spoke Peptide Antigen Assembly With MHC Class II Protein Complex Protein Tag Activity MHC Class II Protein Complex Microtubule-based Movement Cytoskeleton Postsynaptic Cytoskeleton Organization WW Domain Binding MHC Class II Protein Complex Binding Antigen Processing And Presentation Of Peptide Or Polysaccharide Antigen Via MHC Class II Antigen Processing And Presentation Of Peptide Antigen Via MHC Class II Lumenal Side Of Endoplasmic Reticulum Membrane Antigen Processing And Presentation Of Exogenous Peptide Antigen Via MHC Class II 9+2 Motile Cilium Peptide Antigen Binding Cilium	MHC Class II Protein Complex Clathrin-coated Endocytic Vesicle Membrane MHC Class II Protein Complex Binding Lumenal Side Of Endoplasmic Reticulum Membrane Antigen Processing And Presentation Of Exogenous Peptide Antigen Via MHC Class II Antigen Processing And Presentation Of Peptide Antigen Via MHC Class II Antigen Processing And Presentation Of Peptide Or Polysaccharide Antigen Via MHC Class II Antigen Processing And Presentation Of Exogenous Peptide Antigen Antigen Processing And Presentation Of Exogenous Antigen Transport Vesicle Membrane ER To Golgi Transport Vesicle Membrane Antigen Processing And Presentation Of Peptide Antigen Peptide Antigen Assembly With MHC Class II Protein Complex Endocytic Vesicle Membrane Antigen Processing And Presentation Trans-Golgi Network Membrane Positive Regulation Of T Cell Activation Positive Regulation Of Leukocyte Cell-cell Adhesion Peptide Antigen Binding Positive Regulation Of Cell-cell Adhesion Positive Regulation Of Lymphocyte Activation Positive Regulation Of Immune Response Regulation Of T Cell Activation Positive Regulation Of Cell Activation Regulation Of Leukocyte Cell-cell Adhesion MHC Class II Receptor Activity Positive Regulation Of Cell Adhesion Regulation Of Cell-cell Adhesion Regulation Of Lymphocyte Activation Regulation Of Immune Response Adaptive Immune Response T Cell Receptor Signaling Pathway Positive Regulation Of Immune System Process Golgi Membrane Regulation Of Cell Activation Lysosomal Membrane Antigen Receptor-mediated Signaling Pathway Late Endosome Membrane Endosome Protein-containing Complex Assembly Regulation Of Cell Adhesion Lysosome Alpha-2B Adrenergic Receptor Binding MHC Class II Protein Binding, Via Antigen Binding Groove Protein-containing Complex Organization NOS2-CD74 Complex Macrophage Migration Inhibitory Factor Signaling Pathway RNA Polymerase II CTD Heptapeptide Repeat S5 Kinase Activity Regulation Of Macromolecule Metabolic Process Immune Response-activating Cell Surface Receptor Signaling Pathway
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