HLA-C - major histocompatibility complex, class I, C Gene

Also Known as MHC; HLAC; HLC-C; D6S204; PSORS1; HLA-JY3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3107

About HLA-C

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,268,749-31,272,092 (from NCBI)

This gene has 9 transcripts (splice variants), 1 gene allele, 553 orthologues, 22 paralogues and is associated with 3 phenotypes. Broad expression in lung (RPKM 536.7), bone marrow (RPKM 302.4) and 22 other tissues.

Summary

HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. About 6000 HLA-C alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria Parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]

HLA-C Products (2)

mRNA	Protein	Name
NM_001243042.1	NP_001229971.1	HLA class I histocompatibility antigen, C alpha chain precursor
NM_002117.6	NP_002108.4	HLA class I histocompatibility antigen, C alpha chain precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables TAP binding	IDA IDA: Inferred from direct assay	8617941	GOA
enables peptide antigen binding	IDA IDA: Inferred from direct assay	22031944	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12853576	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent	IDA IDA: Inferred from direct assay	22031944	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	20946353	GOA
part of MHC class I protein complex	IDA IDA: Inferred from direct assay	22031944	GOA
located in cell surface	IDA IDA: Inferred from direct assay	9754572	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	20946353	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HLA-C Protein Structure

MHC_I

C1-set

MHC_I_C

0
100
200
300
366 a.a.

Protein Preferred Names	Protein Names
HLA class I histocompatibility antigen, C alpha chain	HLA-C antigen

HLA-C Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83274	HLA-C Antibody (YA3019)	WB, IP	Human, Mouse
HY-P83274A	HLA-C Antibody (YA3019)(PBS only)	WB, IP	Human, Mouse
HY-P84044	HLA-C Antibody (YA3741)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P84044A	HLA-C Antibody (YA3741)(PBS only)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P84941	HLA Class 1 ABC Antibody (YA4638)	ICC/IF, FC	Human

Related Diseases

Diseases	Alias
Psoriasis 1	Psoriasis Vulgaris PSORS1 Psoriasis 1, Susceptibility To Psoriasis Susceptibility 1 Psoriasis Pv Psoriasis, Susceptibility To, Type 1
Human Immunodeficiency Virus Type 1	Aids Hiv/Aids Aids, Delayed/Rapid Progression To Hiv-1, Susceptibility To Hiv-1 Viremia, Susceptibility To Human Immunodeficiency Virus Type 1, Susceptibility To Hiv-1 Aids, Slow Progression To Rapid Progression To Aids From Hiv1 Infection Hiv1 Infection, Resistance To Hiv1 Infection Hiv-1 Viremia Aids, Resistance To Aids, Rapid Progression To Hiv/Aids, Susceptibility To Hiv-1, Resistance To Hiv1, Resistance To Hiv1 Hiv-1 Disease, Delayed Progression Of Hiv-1 Disease, Rapid Progression Of Hiv Infection, Resistance To Hiv Type 1, Susceptibility To Hiv Type 1 Hiv-1 Infection Human Immunodeficiency Virus I Infection Acquired Immunodeficiency Syndrome Hiv-Infection/Aids
Severe Acute Respiratory Syndrome	Sars Sars-Cov Infection Sars-1 Sar Deficiency Sars - [Severe Acute Respiratory Syndrome]
Psoriasis
Psoriatic Arthritis	Psoriatic Arthritis, Susceptibility To Psoriatic Arthropathy Arthropathic Psoriasis Arthritis, Psoriatic Arthritis Psoriatica PSORAS Arthritic Psoriasis Psoriasis Arthropathica Arthritis Psoriatic Arthritis, Psoriatic, Susceptibility To
Pityriasis Rosea	Pityriasis Circinata Gibert Pityriasis
B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality
Covid-19	2019 Novel Coronavirus 2019-Ncov Infection Covid19 Sars-Cov-2 Infection Wuhan Coronavirus Infection Wuhan Seafood Market Pneumonia Virus Infection
Glaucomatocyclitic Crisis	Posner-Schlossman Syndrome Terrien-Viel Syndrome
Spondylitis
Syphilis	Chancre Syphilitic Chancre
Penis Carcinoma In Situ	Carcinoma In Situ Of Penis Bowen'S Disease Of Penis Grade Iii Squamous Intraepithelial Lesion Of Penis Penile Intraepithelial Neoplasia Grade Iii Queyrat'S Erythroplasia Erythroplasia Of Queyrat Pin - [Penile Intraepithelial Neoplasia]
Rubella	German Measles Three Day Measles Rubella Nos
Arthritis	Inflammatory Joint Disease Inflammatory Disorder Of Joint
Behcet Syndrome	Behcet Disease Behcet'S Syndrome Behcet'S Disease Behçet Disease Bd Adamantiades-Behcet Disease Triple Symptom Complex Behçet'S Disease Behet'S Syndrome Bd Syndrome Behçet Syndrome Behçet'S Syndrome Behcet Triple Symptom Complex Malignant Aphthosis Old Silk Route Disease Adamantiades-Behçet Disease
Alopecia Areata	Aa Alopecia Celsi Alopecia Circumscripta Cazenave'S Vitiligo Celsus' Vitiligo Diffuse Alopecia Jonston'S Alopecia Marginal Alopecia Pseudopelade Circumscribed Alopecia Alopecia Cicatrisata Patchy Alopecia Alopecia Aa - [Alopecia Areata] Pelade
Tonsillitis	Chronic Tonsillitis Throat Infection - Tonsillitis
Epstein-Barr Virus Hepatitis
Psoriasis 4	PSORS4 Psoriasis Susceptibility 4 Psoriasis 4, Susceptibility To
Cholangitis, Primary Sclerosing	Primary Sclerosing Cholangitis PSC Sclerosing Cholangitis Cholangitis, Sclerosing Cholangitis Primary Sclerosing Psc - [Primary Sclerosing Cholangitis]
Severe Cutaneous Adverse Reaction	Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Drug-Induced Stevens Johnson Syndrome Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum Susceptibility To Severe Cutaneous Adverse Reaction Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Lyell'S Syndrome Lyell Syndrome Severe Cutaneous Adverse Reaction, Susceptibility To Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To Hypersensitivity Syndrome, Carbamazepine-Induced Stevens-Johnson Syndrome, Susceptibility To Toxic Epidermal Necrolysis, Susceptibility To Sjs/Ten Susceptibility To Severe Cutaneous Adverse Reaction Ity To Mycoplasma-Induced Stevens Johnson Syndrome Dermatostomatitis, Stevens Johnson Type Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum Sjs-Ten Toxic Epidermolysis SJS Dermatostomatitis Stevens Johnson Type Ten Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis] Ten - [Toxic Epidermal Necrolysis]
Skin Disease	Skin Diseases Genodermatosis Abnormality Of The Skin Skin Diseases, Genetic Skin And Subcutaneous Tissue Disease Dermatologic Disorders
Geographic Tongue	Benign Migratory Glossitis Glossitis Areata Exfoliativa Glossitis, Benign Migratory Pityriasis Linguae Ectopic Geographic Tongue Erythema Migrans Erythema Chronicum Migrans Benign Migrating Glossitis Geographical Tongue Lingua Geographica Erythema Migrans Of Tongue Wandering Rash Of Tongue
Colorectal Cancer, Hereditary Nonpolyposis, Type 8	HNPCC8 Hereditary Nonpolyposis Colorectal Cancer Type 8 Hereditary Non-Polyposis Colorectal Cancer 8 Cancer, Colorectal, Nonpolyposis, Hereditary, Type 8
Malaria	Malaria, Susceptibility To Malaria, Resistance To Malaria, Cerebral Cerebral Malaria Malaria, Severe, Susceptibility To Malaria, Severe, Resistance To Malaria, Cerebral, Susceptibility To Induced Malaria Malaria, Vivax, Protection Against Malaria, Severe Malaria, Cerebral, Reduced Risk Of Malaria, Protection Against Resistance To Malaria Due To G6pd Deficiency Malaria Due To G6pd Deficiency Malarial Encephalitis CM Malaria Cerebral Susceptibility To Malaria Acute Pernicious Fever Aestivo-Autumnal Fever Aestivo Autumnal Malaria Chagres Fever Continued Malaria Fever Estivo-Autumnal Fever Estivo-Autumnal Malaria Estivo-Autumnal Malarial Fever Falciparum Fever Malignant Tertian Fever Malignant Tertian Malaria Pernicious Intermittent Fever Pernicious Malaria Quotidian Malaria Subtertian Fever Subtertian Malaria Fever Subtertian Malignant Tertian Malaria Tropical Malaria Algid Malaria Bilious Haemoglobinuric Fever Black Water Fever Blackwater Fever Malarial Blackwater Fever Severe Malarial Falciparum West African Fever Malarial Haematinuria Haemoglobinuric Fever Haemoglobinuric Malaria Severe Plasmodium Falciparum Malaria Malarial Haemoglobinuria Malarial Haematuria Falciparum Malaria [Malignant Tertian] Malaria Tropica Malarial Shock Chagres Virus Disease Malignant Malaria Mtm - [Malignant Tertian Malaria] Tm -[Malignant Tertian Malaria] Panama Fever St - [Subtertian Malaria] Malarial Quotidian Benign Tertian Malaria Tertian Ague Vivax Fever Plasmodium Vivax Malaria Nos Btm - [Benign Tertian Malaria] Bt - [Benign Tertian Malaria] Vivax Malaria Benign Tertian Vivax Malaria Tertian Malaria Quartan Malaria Quartan Ague Quartan Fever Plasmodium Malariae Malaria Nos Quartan Malarial Malaria By Plasmodium Malariae Malariae Malaria Ovale Tertian Malaria Plasmodium Ovale Fever Malaria Fever By Plasmodium Ovale Ovale Malaria Malaria By Plasmodium Ovale Malarial Ovale Marsh Fever Remittent Congestive Fever Coastal Fever Remittent Gastric Fever Miasmatic Fever Congestive Remittent Fever Intermittent Fever Jungle Fever Paludism Cameroon Fever Ague Corsican Fever Intermittent Bilious Fever Disease Due To Plasmodiidae Malarial Fever Plasmodiosis Remittent Fever Roman Fever Malaria Fever Nos Malaria Nos Paludal Fever Clinically Diagnosed Malaria Clinically Diagnosed Malaria Without Parasitological Confirmation Congestive Fever Malarial Cachexia Marsh Cachexia Paludal Cachexia Recurrent Malaria Remittent Malaria
Atrophic Glossitis	Atrophy Of Tongue Papillae Glossitis, Hunter'S Hunter'S Glossitis Smooth Atrophic Tongue Hunter Glossitis Central Papillary Atrophy Of The Tongue
Fissured Tongue	Furrowed Tongue Plicated Tongue Tongue, Fissured Congenital Fissure Of Tongue Congenital Plicated Tongue Fissure Of Tongue Fissure Of Tongue, Congenital Geographic Tongue And Fissured Tongue Lingua Plicata Scrotal Tongue
Pre-Eclampsia	Preeclampsia Gestational Hypertension Hypertension Induced By Pregnancy Pre-Eclamptic Toxaemia Pregnancy Associated Hypertension Proteinuric Hypertension Of Pregnancy Hypertension, Pregnancy-Induced, Susceptibility To Preeclampsia/Eclampsia Pregnancy Toxemia Toxaemia Of Pregnancy Gestational Proteinuric Hypertension Pregnancy-Induced Hypertension Toxemia Of Pregnancy Preeclampsia, Susceptibility To Transient Hypertension Of Pregnancy Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria Gestational Hypertension Nos Mild Proteinuric Hypertension Of Pregnancy Pih - [Pregnancy-Induced Hypertension] Pregnancy-Induced Hypertension Nos Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria Pe - [Pre-Eclampsia] Pre-Eclampsia Nos Pre-Eclamptic Nos Pregnancy Pre-Eclampsia Puerperal Pre-Eclampsia Pre-Eclampsia Toxaemia Toxaemia In Pregnancy Pet - [Pre-Eclamptic Toxaemia] Maternal Toxaemia
Beta-Thalassemia	Beta Thalassemia Cooley'S Anemia Mediterranean Anemia Beta Thalassemia Intermedia Erythroblastic Anemia Thalassemia, Hispanic Gamma-Delta-Beta Thalassemia Major Thalassemia Minor Beta-Plus-Thalassemia Thalassemia, Beta Beta Thalassemia Major Beta Thalassemia Minor Thalassemias, Beta- Microcytemia, Beta Type Thalassemia, Beta Type B-THAL Mediterranean Anaemia Beta Thalassaemia Syndrome Mediterranean Disease Beta Thalassaemia Disease
Autoimmune Disease Of Skin And Connective Tissue
Spondyloarthropathy	Spondylarthropathies Spondarthropathy Spondylarthrosis Spondyloarthropathy, Susceptibility To Spondylarthritis
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Leprosy 3	Leprosy Leprosy, Susceptibility To, 3 Hansen'S Disease Leprosy, Susceptibility To Hansen Disease Infection Due To Mycobacterium Leprae LPRS3 Leprosy, Type 3 Anaesthesia Leprosy Anaesthetic Leprosy Maculoanaesthetic Leprosy Macular Leprosy Leprosy Unspecified
Systemic Lupus Erythematosus	Lupus Nephritis SLE Disseminated Lupus Erythematosus Systemic Lupus Erythematosus, Susceptibility To Lupus Erythematosus, Systemic Lupus Nephritis, Susceptibility To Libman-Sacks Disease Systemic Lupus Erythematosus Susceptibility To Sle - Lupus Erythematosus, Systemic Le Syndrome Lupus Lupus Erythematosus Systemic Lupus Erythematosus, Systemic, Susceptibility To Lupus Vulgaris Lupus Erythematosus, Discoid Lupus Erythematosus Systemic Lupus Erythematosus Nos Sle - [Systemic Lupus Erythematosus]
Celiac Disease 1	Celiac Disease Coeliac Disease Celiac Sprue Celiac Disease, Susceptibility To Gluten-Sensitive Enteropathy Nontropical Sprue Sprue CELIAC1 Celiac Disease, Susceptibility To, 1 Celiac Sprue 1 Celiac Sprue, Susceptibility To, 1 Gluten-Sensitive Enteropathy 1 Gluten-Sensitive Enteropathy, Susceptibility To, 1 Idiopathic Steatorrhea Cœliac Disease Gluten Intolerance Gluten-Induced Enteropathy Gluten Enteropathy Celiac Disease, Susceptibility To, Type 1 Childhood Celiac Disease Coeliac Rickets Gee Disease Gee-Herter Disease Heubner-Herter Disease Idiopathic Steatorrhoea Thaysen'S Disease Herter Gee Syndrome
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06198	HLA-C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992017	Anti-HLA-C Antibody	Inhibitor	/	Unkown