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HLA-B major histocompatibility complex, class I, B [ Homo sapiens (human) ]

Gene ID: 3106, updated on 11-Sep-2014
Official Symbol
HLA-Bprovided by HGNC
Official Full Name
major histocompatibility complex, class I, Bprovided by HGNC
Primary source
HGNC:HGNC:4932
Locus tag
CDABP0067
See related
Ensembl:ENSG00000234745; HPRD:00828; MIM:142830; Vega:OTTHUMG00000031153
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AS; HLAB; SPDA1
Summary
HLA-B 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 the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, 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. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
See HLA-B in Epigenomics, MapViewer
Location:
6p21.3
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (31353872..31357212, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31321649..31324989, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L3 pseudogene 2 Neighboring gene WAS protein family, member 5, pseudogene Neighboring gene microRNA 6891 Neighboring gene dihydrofolate reductase pseudogene 2 Neighboring gene fibroblast growth factor receptor 3 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Abacavir hypersensitivity
MedGen: C1840547 GeneReviews: Not available
Compare labs
Allopurinol response
MedGen: CN160494 GeneReviews: Not available
not available
Ankylosing spondylitis
MedGen: C0038013 OMIM: 106300 GeneReviews: Not available
Compare labs
Carbamazepine hypersensitivity
MedGen: CN077825 GeneReviews: Not available
Compare labs
Carbamazepine response
MedGen: CN077964 GeneReviews: Not available
not available
Susceptibility to severe cutaneous adverse reaction
MedGen: C1840548 OMIM: 608579 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A genome-wide association study identifies two new risk loci for Graves' disease.
NHGRI GWA Catalog
A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
NHGRI GWA Catalog
A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).
NHGRI GWA Catalog
Ankylosing spondylitis
Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls.
NHGRI GWA Catalog
Common genetic variation and the control of HIV-1 in humans.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC.
NHGRI GWA Catalog
Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
NHGRI GWA Catalog
HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.
NHGRI GWA Catalog
Host determinants of HIV-1 control in African Americans.
NHGRI GWA Catalog
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
NHGRI GWA Catalog
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
NHGRI GWA Catalog
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
NHGRI GWA Catalog
Multiple loci are associated with white blood cell phenotypes.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
Novel associations for hypothyroidism include known autoimmune risk loci.
NHGRI GWA Catalog
Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.
NHGRI GWA Catalog
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Conformational changes in HIV-1 gp120, including an enhanced expression of the V3 loop of gp120 and of epitopes that are exposed upon CD4 binding, are consistent with the formation of a multimolecular complex between HLA class I and gp120/160 PubMed
env Treatment of CD4+ T cells with HIV-1 gp120 significantly increases CD4 association with CD3, CD45RA, CD45RB, CD59, CD38, CD26 and HLA class I, and decreases that with CD45RC PubMed
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160-derived peptide p18 presented by H-2Dd class I major histocompatibility complex molecules is processed by angiotensin-1 converting enzyme (ACE) prior to T cell stimulation by the peptide p18 PubMed
Envelope transmembrane glycoprotein gp41 env Soluble HIV-1 gp41 enhancement effects on MHC class I and II antigen expression can be inhibited by soluble gp41-binding proteins of 45, 49 and 62 kD from human B cells PubMed
env Soluble HIV-1 gp41 can selectively enhance MHC class I and II expression on human B cells, but does not increase expression of other cell surface antigens such as CD21 and CD54 (ICAM-1) PubMed
env HIV-1 gp41 selectively enhances MHC class I, ICAM-1, IFN-alpha, IFN-beta, and IFN-omega expression in H9 cells PubMed
Nef nef HIV-1 Nef clones, isolated from plasma of elite controllers (EC) and chronic progressors (CP), show significantly lower HLA class I downregulation activity in EC than that in CP PubMed
nef HIV-1 Nef clones obtained from chronic patients infected with HIV-1 subtypes A, B, C or D show a functional hierarchy of subtype B > A/D > C for Nef-mediated HLA class I downregulation PubMed
nef HLA supertypes such as HLA B*07, HLA B*58, HLA A*02 and HLA A*03 are most successful in restricting the amino acid positions of epitope dense regions of HIV-1 Nef, CA, and MA with low entropy and hydrophobic property PubMed
nef Protective HLA alleles have a true preference for HIV-1 Gag protein, while non-protective HLA alleles preferentially interact with HIV-1 Nef PubMed
nef HIV-1 Nef-mediated downregulation of MHC-I requires Nef motif EEEE(65)-dependent binding to the sorting protein PACS-2, which targets Nef to the paranuclear region and enables Nef PXXP(75) to bind and activate a trans-Golgi network localized Src kinase PubMed
nef Different levels of the modulation of MHC-1 are induced by different Nef proteins derived from HIV-1 infected adults and children PubMed
nef HIV-1 selectively downregulates HLA-A and HLA-B but does not significantly affect HLA-C or HLA-E, which allows HIV-infected cells to avoid NK cell-mediated lysis PubMed
nef Interaction of HIV-1 Nef with the mu subunit of AP adaptor complexes requires the recognition of tyrosine-based sorting signals, which likely facilitates the connection between MHC I and the clathrin-dependent sorting machinery PubMed
nef Four glutamic acids from position 62 to 65 in the SH3 domain of HIV-1 Nef bind to the cytoplasmic tail at position 320Y of MHC-I, and are required for the Nef-mediated downregulation of MHC-I from the cell surface PubMed
nef HIV-1 Nef downregulates the expression of MHC-I at the surface of lymphoid, monocytic and epithelial cells, causing MHC-I molecules to be rapidly internalized, accumulated in endosomal vesicles and degraded PubMed
nef The HIV-1 Nef highly conserved valine-glycine-phenylalanine amino acid triplet (VGF) motif, which links the acidic cluster and the proline-rich motif, is important for downregulation of CXCR4 and MHC-I PubMed
nef HLA-A2 molecules with HLA-A cytoplasmic domains are more downregulated by HIV-1 Nef than those with HLA-B domains. There is no downregulation of HLA-A2 with HLA-C cytoplasmic domains by Nef PubMed
nef Asp327 and Tyr320 of MHC-I, Asp123 of Nef, and Arg225, Arg393, Lys396, Arg211, and Arg246 of mu 1 are involved in a crucial three-way electrostatic network, which results in the Nef-MHC-I CD-mu 1 complex formation PubMed
nef HIV-1 Nef with A84D, Y135F, and G140R mutation impairs to its ability to downregulate MHC-I PubMed
nef Double (W13A/V16R) and triple (W13A/V16R/M20A) substitution mutants of HIV-1 Nef fail to downregulate MHC-I PubMed
nef HIV-1 Nef-induced downregulation of MHC-I expression and MHC-I targeting to the trans-Golgi network (TGN) require the binding of Nef to PACS-1, a molecule that controls the TGN localization of the cellular protein furin PubMed
nef HIV-1 Nef downregulates expression of MHC-I by blocking transport of MHC-I molecules to the cell surface through a mechanism that requires phosphoinositide 3-kinase (PI 3-kinase) activity PubMed
nef A methionine residue at amino acid 20 in the alpha-helix domain is required for the ability of HIV-1 Nef to downregulate MHC-I expression but not for the downregulation of CD4 PubMed
nef Nef/Hck complex recruits and phosphorylates the tyrosine kinase ZAP-70, which binds class I PI3K to trigger MHC-I downregulation in primary CD4+ T cells PubMed
nef In promonocytic cells, Nef/Hck recruits the ZAP-70 homolog Syk to downregulate MHC-I PubMed
nef Amino acid residue Y320 in the MHC-I cytoplasmic domain and residues E62-65 and P78 in HIV-1 Nef are required for interaction with the mu subunit of AP-1 PubMed
nef MHC-I is found in the Rab7(+) vesicles and is targeted for degradation via the activity of the Nef-interacting protein, beta-COP PubMed
nef HIV-1 group N or O Nef alleles only weakly downregulate CD4, CD28, and class I and II MHC molecules PubMed
nef Two distinct regions of HIV-1 Nef modulate MHC-I expression on cell surface: an N-terminal alpha-helix (residues 17-26) and a proline-rich motif (residues 75-78) PubMed
nef HIV-1 Nef alleles derived from perinatally infected children efficiently downregulate both CD4 and MHC-I in HeLa-CD4+ cells PubMed
nef HIV-1 Nef induces drastic and moderate downregulation of CD4 and MHC-I in resting CD4(+) T lymphocytes, respectively, but markedly upregulates cell surface levels of the MHC-II invariant chain CD74 PubMed
nef HIV-1-specific CTL clones are suppressed to kill primary CD4(+) T cells infected with a Nef-positive HIV-1 strain (NL-432) but efficiently lysed CD4(+) T cells infected with a nef-mutant NL-M20A PubMed
nef PxxP motifs in HIV-1 Nef induce the accumulation of CCR5 in a perinuclear compartment where both molecules co-localize with MHC-1 PubMed
nef HIV-1 Nef mutant NefAAAA, which cannot interact with the endosomal sorting protein PACS-1, increases the number of cells containing long and stable tubules, which allows the internalization of MHC-1 into the tubules from the cell surface PubMed
nef HIV-1 Nef-mediated cellular phenotypes, including MHC-1 and CD4 downregulation, are differentially expressed as a function of intracellular Nef concentrations PubMed
nef HIV-1 Nef downregulates human MHC-I more efficiently than murine MHC-I molecules in HeLa cells, and Nef does not function efficiently in murine endothelial cells PubMed
nef Downregulation of MHC-I by Nef decreases the incorporation of MHC-I molecules into virions, but does not decrease virion infectivity PubMed
nef Downregulation of major histocompatibility class I on human dendritic cells by HIV-1 Nef impairs antigen presentation to HIV-specific CD8+ T lymphocytes PubMed
nef A dominant-negative mutant protein derived from Hck, (composed of the N-terminal region, SH2, and SH3 domains) interacts with HIV-1 Nef and inhibits Nef-induced downregulation of MHC class I PubMed
nef Deletion of the 19 N-terminal amino acids including the myristoylation signal from HIV-1 Nef inhibits both MHC-I and CD4 downregulation while preserving most CTL, T-helper and B-cell epitopes PubMed
Pr55(Gag) gag HLA-B subjects are associated with HIV-1 disease progression with HIV-1 Gag sequence diversity PubMed
gag Protective HLA alleles have a true preference for HIV-1 Gag protein, while non-protective HLA alleles preferentially interact with HIV-1 Nef PubMed
gag HIV-1 Gag virus-like particles efficiently activate human monocyte-derived dendritic cells (MDDC) and induce MDDC maturation with an associated increase in the surface expression of CD80, CD86 and MHC classes I and II PubMed
gag The PTAP L-domains in the p6 domain of HIV-1 Gag regulates ubiquitination of Gag which controls MHC-I presentation and gag processing in the DRiP pathway. PubMed
gag HLA-B-restricted epitopes contribute to a broad Gag-specific CD8+ response that is associated with relative suppression of viremia PubMed
gag Specific HIV-1 residues in Vpr, Gag, and Rev and HLA alleles (particularly B and C) confer susceptibility to the CTL response in HIV-1 infected patients PubMed
gag Targeting HIV-1 Gag into the defective ribosomal product pathway enhances MHC class I antigen presentation and CD8+ T cell activation PubMed
Rev rev Specific HIV-1 residues in Vpr, Gag, and Rev and HLA alleles (particularly B and C) confer susceptibility to the CTL response in HIV-1 infected patients PubMed
Tat tat Four mutations (C27S, K51T, R55L, and G79A) on HIV-1 Tat result in the loss of the deleterious effects of Tat on the expression of MHC I, IL-2, and CD25 genes compared with wild-type Tat in Jurkat cells PubMed
tat HIV-1 Tat upregulates MHC class I in monocyte-derived dendritic cells and CD8(+) T cells, thereby driving T cell-mediated immune responses PubMed
tat HIV-1 Tat represses the MHC class I gene promoter by binding to and repressing TAFII250, a component of the general transcription factor TFIID, suggesting a mechanism for HIV-1 to downregulate MHC class I expression and avoid immune surveillance PubMed
Vpr vpr Specific HIV-1 residues in Vpr, Gag, and Rev and HLA alleles (particularly B and C) confer susceptibility to the CTL response in HIV-1 infected patients PubMed
Vpu vpu HLA class I-associated immune responses have minor effects on Vpu variability, suggesting that Vpu conformation and function are preserved through many possible combinations of primary and secondary polymorphisms PubMed
vpu Using antibodies specific to MHC class I A, B, and C molecules (clone W6/32), HIV-1 Vpu protein has been shown to downregulate the expression of MHC class I molecules on the surface of HIV-1 infected cells PubMed
capsid gag HLA supertypes such as HLA B*07, HLA B*58, HLA A*02 and HLA A*03 are most successful in restricting the amino acid positions of epitope dense regions of HIV-1 Nef, CA, and MA with low entropy and hydrophobic property PubMed
matrix gag HLA supertypes such as HLA B*07, HLA B*58, HLA A*02 and HLA A*03 are most successful in restricting the amino acid positions of epitope dense regions of HIV-1 Nef, CA, and MA with low entropy and hydrophobic property PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Allograft Rejection, organism-specific biosystem (from WikiPathways)
    Allograft Rejection, organism-specific biosystemThis pathway illustrates molecular interactions involved in the fundamental adaptive immune response for allograft destruction. This pathway was adapted in large part from the KEGG pathway http://www...
  • Allograft rejection, organism-specific biosystem (from KEGG)
    Allograft rejection, organism-specific biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
  • Allograft rejection, conserved biosystem (from KEGG)
    Allograft rejection, conserved biosystemAllograft rejection is the consequence of the recipient's alloimmune response to nonself antigens expressed by donor tissues. After transplantation of organ allografts, there are two pathways of anti...
  • Antigen Presentation: Folding, assembly and peptide loading of class I MHC, organism-specific biosystem (from REACTOME)
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC, organism-specific biosystemUnlike other glycoproteins, correct folding of MHC class I molecules is not sufficient to trigger their exit from the ER, they exit only after peptide loading. Described here is the process of antige...
  • Antigen processing and presentation, organism-specific biosystem (from KEGG)
    Antigen processing and presentation, organism-specific biosystem
    Antigen processing and presentation
  • Antigen processing and presentation, conserved biosystem (from KEGG)
    Antigen processing and presentation, conserved biosystem
    Antigen processing and presentation
  • Antigen processing-Cross presentation, organism-specific biosystem (from REACTOME)
    Antigen processing-Cross presentation, organism-specific biosystemMHC class I molecules generally present peptide antigens derived from proteins synthesized by the cell itself to CD8+ T cells. However, in some circumstances, antigens from extracellular environment ...
  • Autoimmune thyroid disease, organism-specific biosystem (from KEGG)
    Autoimmune thyroid disease, organism-specific biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
  • Autoimmune thyroid disease, conserved biosystem (from KEGG)
    Autoimmune thyroid disease, conserved biosystemThe classification of autoimmune throid disease (AITD) includes Hashimoto's thyroiditis (HT) or chronic autoimmune thyroiditis and its variants, Graves' disease (GD) and autoimmune atrophic thyroidi...
  • Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
    Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
    Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • DAP12 interactions, organism-specific biosystem (from REACTOME)
    DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
  • ER-Phagosome pathway, organism-specific biosystem (from REACTOME)
    ER-Phagosome pathway, organism-specific biosystemThe other TAP-dependent cross-presentation mechanism in phagocytes is the endoplasmic reticulum (ER)-phagosome model. Desjardins proposed that ER is recruited to the cell surface, where it fuses wit...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endosomal/Vacuolar pathway, organism-specific biosystem (from REACTOME)
    Endosomal/Vacuolar pathway, organism-specific biosystemSome antigens are cross-presented through a vacuolar mechanism that involves generation of antigenic peptides and their loading on to MHC-I molecules within the endosomal compartment in a proteasome ...
  • Epstein-Barr virus infection, organism-specific biosystem (from KEGG)
    Epstein-Barr virus infection, organism-specific biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
  • Epstein-Barr virus infection, conserved biosystem (from KEGG)
    Epstein-Barr virus infection, conserved biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
  • Graft-versus-host disease, organism-specific biosystem (from KEGG)
    Graft-versus-host disease, organism-specific biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
  • Graft-versus-host disease, conserved biosystem (from KEGG)
    Graft-versus-host disease, conserved biosystemGraft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells....
  • HTLV-I infection, organism-specific biosystem (from KEGG)
    HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • HTLV-I infection, conserved biosystem (from KEGG)
    HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
  • Herpes simplex infection, organism-specific biosystem (from KEGG)
    Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Herpes simplex infection, conserved biosystem (from KEGG)
    Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Interferon Signaling, organism-specific biosystem (from REACTOME)
    Interferon Signaling, organism-specific biosystemInterferons (IFNs) are cytokines that play a central role in initiating immune responses, especially antiviral and antitumor effects. There are three types of IFNs:Type I (IFN-alpha, -beta and others...
  • Interferon alpha/beta signaling, organism-specific biosystem (from REACTOME)
    Interferon alpha/beta signaling, organism-specific biosystemType I interferons (IFNs) are composed of various genes including IFN alpha (IFNA), beta (IFNB), omega, epsilon, and kappa. In humans the IFNA genes are composed of more than 13 subfamily genes, wher...
  • Interferon gamma signaling, organism-specific biosystem (from REACTOME)
    Interferon gamma signaling, organism-specific biosystemInterferon-gamma (IFN-gamma) belongs to the type II interferon family and is secreted by activated immune cells-primarily T and NK cells, but also B-cells and APC. INFG exerts its effect on cells by ...
  • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
    Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
  • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
    Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Proteasome Degradation, organism-specific biosystem (from WikiPathways)
    Proteasome Degradation, organism-specific biosystem
    Proteasome Degradation
  • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
    Type I diabetes mellitus, organism-specific biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
  • Type I diabetes mellitus, conserved biosystem (from KEGG)
    Type I diabetes mellitus, conserved biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
  • Type II interferon signaling (IFNG), organism-specific biosystem (from WikiPathways)
    Type II interferon signaling (IFNG), organism-specific biosystemAdapted from Raza et al. (2008). This pathway is initiated by IFNG binding to its receptor and a subsequent phosphorylation cascade involving a number of the JAK and STAT family of proteins. Several ...
  • Viral carcinogenesis, organism-specific biosystem (from KEGG)
    Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral carcinogenesis, conserved biosystem (from KEGG)
    Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
  • Viral myocarditis, organism-specific biosystem (from KEGG)
    Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC111087

Gene Ontology Provided by GOA

Function Evidence Code Pubs
TAP binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT TAP binding IDA
Inferred from Direct Assay
more info
PubMed 
chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
peptide antigen binding IDA
Inferred from Direct Assay
more info
 
peptide antigen binding ISS
Inferred from Sequence or Structural Similarity
more info
 
receptor binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent IDA
Inferred from Direct Assay
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
Traceable Author Statement
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
Traceable Author Statement
more info
 
antigen processing and presentation of peptide antigen via MHC class I IEA
Inferred from Electronic Annotation
more info
 
antigen processing and presentation of peptide antigen via MHC class I TAS
Traceable Author Statement
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
defense response TAS
Traceable Author Statement
more info
PubMed 
detection of bacterium IMP
Inferred from Mutant Phenotype
more info
 
immune response IEA
Inferred from Electronic Annotation
more info
 
immune response IMP
Inferred from Mutant Phenotype
more info
 
immune response NAS
Non-traceable Author Statement
more info
PubMed 
innate immune response TAS
Traceable Author Statement
more info
 
interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of T cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T cell mediated cytotoxicity IEA
Inferred from Electronic Annotation
more info
 
protection from natural killer cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of T cell anergy IMP
Inferred from Mutant Phenotype
more info
 
regulation of dendritic cell differentiation IMP
Inferred from Mutant Phenotype
more info
 
regulation of immune response TAS
Traceable Author Statement
more info
 
regulation of interleukin-12 production IMP
Inferred from Mutant Phenotype
more info
 
regulation of interleukin-6 production IMP
Inferred from Mutant Phenotype
more info
 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ER to Golgi transport vesicle membrane TAS
Traceable Author Statement
more info
 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
MHC class I protein complex IDA
Inferred from Direct Assay
more info
 
MHC class I protein complex ISS
Inferred from Sequence or Structural Similarity
more info
 
cell surface IDA
Inferred from Direct Assay
more info
 
cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 
early endosome membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of lumenal side of endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
major histocompatibility complex, class I, B
Names
major histocompatibility complex, class I, B
lymphocyte antigen
MHC class I antigen SHCHA
MHC Class I HLA heavy chain
MHC class I antigen GN00104
leukocyte antigen class I-B
MHC HLA-B cell surface glycoprotein
MHC HLA-B transmembrane glycoprotein
MHC class I antigen HLA-B heavy chain
HLA class I histocompatibility antigen, B alpha chain

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023187.1 

    Range
    5001..8341
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005514.6NP_005505.2  major histocompatibility complex, class I, B precursor

    See proteins identical to NP_005505.2

    Status: REVIEWED

    Source sequence(s)
    AW273181, DC345094, U29057
    Consensus CDS
    CCDS34394.1
    UniProtKB/TrEMBL
    E5FQ95
    UniProtKB/Swiss-Prot
    P01889
    Related
    ENSP00000399168, OTTHUMP00000029212, ENST00000412585, OTTHUMT00000076280
    Conserved Domains (3) summary
    cd07698
    Location:207299
    Blast Score: 364
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    pfam06623
    Location:346362
    Blast Score: 86
    MHC_I_C; MHC_I C-terminus
    pfam00129
    Location:25203
    Blast Score: 952
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 

    Range
    2834232..2837571
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_246962.1 RNA Sequence

Reference GRCh38 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 

    Range
    2662484..2665824
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005275100.2XP_005275157.1  

    Conserved Domains (3) summary
    cd07698
    Location:250342
    Blast Score: 372
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    pfam06623
    Location:389405
    Blast Score: 87
    MHC_I_C; MHC_I C-terminus
    pfam00129
    Location:72246
    Blast Score: 903
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

Reference GRCh38 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 

    Range
    2695844..2699208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005275238.1XP_005275295.1  

    Conserved Domains (2) summary
    cd07698
    Location:207299
    Blast Score: 362
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    pfam00129
    Location:25203
    Blast Score: 950
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
  2. XM_006725905.1XP_006725968.1  

    Conserved Domains (3) summary
    cd07698
    Location:250342
    Blast Score: 367
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    pfam06623
    Location:389405
    Blast Score: 84
    MHC_I_C; MHC_I C-terminus
    pfam00129
    Location:72246
    Blast Score: 921
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
  3. XM_006725904.1XP_006725967.1  

    Conserved Domains (2) summary
    cd07698
    Location:250342
    Blast Score: 364
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    pfam00129
    Location:72246
    Blast Score: 924
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

Reference GRCh38 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 

    Range
    2609569..2613543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005275377.1XP_005275434.1  

    See proteins identical to XP_005275434.1

    UniProtKB/Swiss-Prot
    P30466
    UniProtKB/TrEMBL
    S6AU73
    Conserved Domains (3) summary
    cd07698
    Location:207299
    Blast Score: 364
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    pfam06623
    Location:346362
    Blast Score: 85
    MHC_I_C; MHC_I C-terminus
    pfam00129
    Location:25203
    Blast Score: 940
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
  2. XM_005275376.1XP_005275433.1  

    Conserved Domains (2) summary
    cd07698
    Location:207299
    Blast Score: 361
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    pfam00129
    Location:25203
    Blast Score: 941
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

Reference GRCh38 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 

    Range
    2656110..2659450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005275535.2XP_005275592.1  

    Conserved Domains (3) summary
    cd07698
    Location:250342
    Blast Score: 371
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    pfam06623
    Location:389405
    Blast Score: 87
    MHC_I_C; MHC_I C-terminus
    pfam00129
    Location:72246
    Blast Score: 904
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    31353872..31357212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249043.1XP_005249100.1  

    Conserved Domains (2) summary
    cd07698
    Location:207299
    Blast Score: 361
    IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain
    pfam00129
    Location:25203
    Blast Score: 951
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

RNA

  1. XR_427830.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    31112051..31115393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    31323557..31326920
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)