Human Gene HLA-DPB1 (uc011hgd.2) Description and Page Index
  Description: Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.
RefSeq Summary (NM_002121): HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M83664.1, BC013184.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: chr6_mann_hap4:4,501,243-4,515,019 Size: 13,777 Total Exon Count: 6 Strand: +
Coding Region
   Position: chr6_mann_hap4:4,501,359-4,511,561 Size: 10,203 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-14

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-  Comments and Description Text from UniProtKB
  ID: DPB1_HUMAN
DESCRIPTION: RecName: Full=HLA class II histocompatibility antigen, DP beta 1 chain; AltName: Full=HLA class II histocompatibility antigen, DP(W4) beta chain; AltName: Full=MHC class II antigen DPB1; Flags: Precursor;
FUNCTION: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading.
SUBUNIT: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74 undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and facilitate the binding of antigenic peptides.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane protein. Endosome membrane; Single- pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation.
POLYMORPHISM: The following alleles of HLA-DPB1 are known: DPB1*01:01, DPB1*01:02, DPB1*02:01, DPB1*02:02, DPB1*02:03, DPB1*03:01, DPB1*03:02, DPB1*04:01, DPB1*04:02, DPB1*04:03, DPB1*05:01, DPB1*05:02, DPB1*06:01, DPB1*06:02, DPB1*08:01, DPB1*08:02, DPB1*09:01, DPB1*09:02, DPB1*10:01, DPB1*10:02, DPB1*11:01, DPB1*11:02, DPB1*13:01, DPB1*13:02, DPB1*14:01, DPB1*14:02, DPB1*15:01, DPB1*15:02, DPB1*16:01, DPB1*16:02, DPB1*17:01, DPB1*17:02, DPB1*18:01, DPB1*18:02, DPB1*19:01, DPB1*19:02, DPB1*20:01, DPB1*20:02, DPB1*21:01, DPB1*21:02, DPB1*22:01, DPB1*22:02, DPB1*23:01, DPB1*24:01, DPB1*24:02, DPB1*25:01, DPB1*25:02, DPB1*26:01, DPB1*26:02, DPB1*27:01, DPB1*28:01, DPB1*29:01, DPB1*30:01, DPB1*31:01, DPB1*32:01, DPB1*33:01, DPB1*34:01, DPB1*35:01, DPB1*36:01, DPB1*37:01, DPB1*38:01, DPB1*39:01, DPB1*40:01, DPB1*41:01, DPB1*44:01, DPB1*45:01, DPB1*46:01, DPB1*47:01, DPB1*48:01, DPB1*49:01, DPB1*50:01, DPB1*51:01, DPB1*52:01, DPB1*53:01, DPB1*54:01, DPB1*55:01, DPB1*56:01, DPB1*57:01, DPB1*58:01, DPB1*59:01, DPB1*60:01, DPB1*62:01, DPB1*63:01, DPB1*65:01, DPB1*66:01, DPB1*67:01, DPB1*68:01, DPB1*69:01, DPB1*70:01, DPB1*71:01, DPB1*72:01, DPB1*73:01, DPB1*74:01, DPB1*75:01, DPB1*76:01, DPB1*77:01, DPB1*78:01, DPB1*79:01, DPB1*80:01, DPB1*81:01, DPB1*82:01, DPB1*83:01, DPB1*84:01, DPB1*85:01, DPB1*86:01, DPB1*87:01, DPB1*88:01, DPB1*89:01, DPB1*90:01, DPB1*91:01, DPB1*92:01, DPB1*93:01, DPB1*94:01, DPB1*95:01, DPB1*96:01, DPB1*97:01, DPB1*98:01 and DPB1*99:01. The sequence shown is that of DPB1*04:01.
SIMILARITY: Belongs to the MHC class II family.
SIMILARITY: Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
SEQUENCE CAUTION: Sequence=AAQ12564.1; Type=Frameshift; Positions=39;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: HLA-DPB1
CDC HuGE Published Literature: HLA-DPB1
Positive Disease Associations: Asthma , asthma, aspirin-intolerant , asthma; urticaria , atopy , bone marrow transplant , cardiomyopathy , celiac disease , diabetes, type 1 , endometriosis , graft-versus-host disease , hepatitis B , Hepatitis B Vaccines , Hepatitis B, Chronic , leukemia, acute lymphoblastic , leukemia, myeloid , multiple sclerosis , nephropathy in other diseases , pathological myopia , primary biliary cirrhosis , pulmonary hypertension; thrombosis, deep vein; pulmonary thromboembolism , Scleroderma, Systemic , silicosis
Related Studies:
  1. Asthma
    Emiko Noguchi et al. PLoS genetics 2011, Genome-wide association study identifies HLA-DP as a susceptibility gene for pediatric asthma in Asian populations., PLoS genetics. [PubMed 21814517]
  2. asthma, aspirin-intolerant
    Kim, S. H. et al. 2006, Association of TNF-alpha genetic polymorphism with HLA DPB1(*)0301, Clin Exp Allergy 2006 36(10) 1247-53. [PubMed 17014432]
    TNF-alpha promoter polymorphism may significantly increase susceptibility to AIA by gene-to-gene interaction with HLA DPB1*0301.
  3. asthma; urticaria
    Kim, S. H. et al. 2005, The human leucocyte antigen-DRB1*1302-DQB1*0609-DPB1*0201 haplotype may be a strong genetic marker for aspirin-induced urticaria., Clinical and experimental allergy. 2005 Mar;35(3):339-44. [PubMed 15784113]
    These findings suggest that the HLA-DRB1(*)1302-DQB1(*)0609-DPB1(*)0201 may be a strong genetic marker to determine the aspirin-induced urticaria phenotype.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.85116-0.163 Picture PostScript Text
3' UTR -906.823162-0.287 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like_dom
IPR013783 - Ig-like_fold
IPR003006 - Ig/MHC_CS
IPR003597 - Ig_C1-set
IPR011162 - MHC_I/II-like_Ag-recog
IPR014745 - MHC_II_a/b_N
IPR000353 - MHC_II_b_N

Pfam Domains:
PF00047 - Immunoglobulin domain
PF00969 - Class II histocompatibility antigen, beta domain
PF07654 - Immunoglobulin C1-set domain

SCOP Domains:
48726 - Immunoglobulin
54452 - MHC antigen-recognition domain

Protein Data Bank (PDB) 3-D Structure

3LQZ
- X-ray Chimera LS-SNP
Chimera help

ModBase Predicted Comparative 3D Structure on P04440
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  M57466 - Human MHC class II HLA-DP light chain mRNA, complete cds.
AK291986 - Homo sapiens cDNA FLJ75434 complete cds, highly similar to Homo sapiens major histocompatibility complex, class II, DP beta 1, mRNA.
AK303153 - Homo sapiens cDNA FLJ61008 complete cds, highly similar to HLA class II histocompatibility antigen, DP(W4) beta chain precursor.
AK301322 - Homo sapiens cDNA FLJ57621 complete cds, highly similar to HLA class II histocompatibility antigen, DP(W4) beta chain precursor.
X01426 - Human mRNA for HLA class II antigen SB 2-beta chain.
J03041 - Human HLA DP4 beta-chain mRNA, complete cds.
M83664 - Human MHC class II lymphocyte antigen (HLA-DP) beta chain mRNA, complete cds.
AK313305 - Homo sapiens cDNA, FLJ93818, Homo sapiens major histocompatibility complex, class II, DP beta 1(HLA-DPB1), mRNA.
BC013184 - Homo sapiens major histocompatibility complex, class II, DP beta 1, mRNA (cDNA clone MGC:17212 IMAGE:4341117), complete cds.
AY831403 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1*1301 allele, complete cds.
AY831402 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1*0402 allele, complete cds.
AY831401 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1*1301 new allele, complete cds.
AY804142 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*1901 allele, complete cds.
AY804132 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*1901new allele, complete cds.
X03067 - Human mRNA for HLA-D class II antigen DPW2 beta chain.
AY804140 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*1401 allele, complete cds.
AY804135 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*030101new allele, complete cds.
AY804139 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*0901 allele, complete cds.
AY804134 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*020102 allele, complete cds.
AY804138 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*0501 allele, complete cds.
AY804137 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*0402new allele, complete cds.
AY804143 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*010101 allele, complete cds.
BC007963 - Homo sapiens major histocompatibility complex, class II, DP beta 1, mRNA (cDNA clone MGC:14112 IMAGE:4309717), complete cds.
BC015000 - Homo sapiens major histocompatibility complex, class II, DP beta 1, mRNA (cDNA clone MGC:23556 IMAGE:4851472), complete cds.
AB208978 - Homo sapiens mRNA for HLA class II histocompatibility antigen, DP beta chain precursor variant protein.
AY804141 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*1501 allele, complete cds.
M28200 - Homo sapiens MHC class II lymphocyte antigen beta-chain (HLA-DPB1a) mRNA, complete cds.
DQ284441 - Homo sapiens clone A6-DPB-9-SP6 MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1*020102 variant allele, complete cds.
AY804133 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*010102 allele, complete cds.
AY804136 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1-DPB1*040101 allele, complete cds.
AB529034 - Synthetic construct DNA, clone: pF1KB3440, Homo sapiens HLA-DPB1 gene for major histocompatibility complex, class II, DP beta 1, without stop codon, in Flexi system.
DQ894229 - Synthetic construct Homo sapiens clone IMAGE:100008689; FLH168842.01L; RZPDo839D1093D major histocompatibility complex, class II, DP beta 1 (HLA-DPB1) gene, encodes complete protein.
DQ891050 - Synthetic construct clone IMAGE:100003680; FLH168846.01X; RZPDo839D1094D major histocompatibility complex, class II, DP beta 1 (HLA-DPB1) gene, encodes complete protein.
CU680546 - Synthetic construct Homo sapiens gateway clone IMAGE:100023440 5' read HLA-DPB1 mRNA.
AY656678 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1*0202 allele, complete cds.
AY656679 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1*0501 allele, complete cds.
AY656680 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1*1301 allele, complete cds.
GQ891549 - Homo sapiens MHC class II antigen (HLA-DPB) mRNA, HLA-DPB1*2101 allele, complete cds.
BT019780 - Homo sapiens major histocompatibility complex, class II, DP beta 1 mRNA, complete cds.
AY831404 - Homo sapiens MHC class II antigen (HLA-DPB1) mRNA, HLA-DPB1*0202 allele, complete cds.
M28202 - Homo sapiens MHC class II lymphocyte antigen beta-chain (HLA-DPB1) mRNA, complete cds.
M21886 - Human MHC class II HLA-DPw4b-beta chain mRNA (DPw4), 3' end.
X00532 - Human mRNA for SB beta-chain (clone pII-beta-7).
K01615 - Human MHC class II HLA-SB-beta-I gene (DR4,w6).
M28201 - Homo sapiens MHC class II lymphocyte antigen beta-chain (HLA-DPB1b) mRNA, 3' end.
K00409 - Human MHC class II HLA-SB-beta chain mRNA (dr4,w6).
L29173 - Homo sapiens MHC class II antigen beta chain mRNA, partial cds.
S66883 - HLA-DP (DPB1*02012)=major histocompatibility complex class II antigen beta chain [human, LCL 45.1, mutant 45.EM19, mRNA Partial Mutant, 171 nt].
E01701 - cDNA sequence coding for beta-chain of human HLA class II.
FR775798 - Homo sapiens partial mRNA for MHC class II antigen (HLA-DPB1 gene), HLA-DPB1*0501_new allele.
HE614584 - Homo sapiens mRNA for MHC class II antigen (HLA-DPB1 gene), allele HLA-DPB1*17:01, isolate 15704.
HE614585 - Homo sapiens mRNA for MHC class II antigen (HLA-DPB1 gene), allele HLA-DPB1*26:01:02, isolate 21740.
HE614586 - Homo sapiens mRNA for MHC class II antigen (HLA-DPB1 gene), allele DPB1*39:01, isolate 17677.
HE614587 - Homo sapiens mRNA for MHC class II antigen (HLA-DPB1 gene), allele DPB1*18:01, isolate 21251.
HE614588 - Homo sapiens mRNA for MHC class II antigen (HLA-DPB1 gene), allele DPB1*11:01:01, isolate 33274.
HE614589 - Homo sapiens mRNA for MHC class II antigen (HLA-DPB1 gene), allele DPB1*21:01, isolate 18168.
HE614590 - Homo sapiens mRNA for MHC class II antigen (HLA-DPB1 gene), allele DPB1*06:01, isolate 18161.
HE614591 - Homo sapiens mRNA for MHC class II antigen (HLA-DPB1 gene), allele DPB1*27:01, isolate 17806.
HE603611 - Homo sapiens mRNA for MHC class II antigen (HLA-DPB1 gene), allele HLA-DPB1*10:01.
HE603612 - Homo sapiens mRNA for MHC class II antigen (HLA-DPB1 gene), allele HLA-DPB1*16:01.
FR775797 - Homo sapiens mRNA for MHC class II antigen (HLA-DPB1 gene), HLA-DPB1*1701_new allele.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04514 - Cell adhesion molecules (CAMs)
hsa04612 - Antigen processing and presentation
hsa04672 - Intestinal immune network for IgA production
hsa04940 - Type I diabetes mellitus
hsa05140 - Leishmaniasis
hsa05310 - Asthma
hsa05320 - Autoimmune thyroid disease
hsa05322 - Systemic lupus erythematosus
hsa05330 - Allograft rejection
hsa05332 - Graft-versus-host disease
hsa05416 - Viral myocarditis

-  Other Names for This Gene
  Alternate Gene Symbols: A0PFJ7, A5I886, A8YPB3, B5U8B4, B7VF80, B7VF87, B8ZX68, B8ZYT0, B9W5S8, B9W6F7, B9W6F9, C0MPP5, C0MPQ2, C0MPQ3, C0MPQ5, C0MPQ6, C0MPQ7, C4R9J5, C5IZL1, DPB1_HUMAN, HLA-DP1B, NM_002121, NP_002112, O00259, O19698, O19700, O19702, O19749, O46884, O77952, O98215, O98216, O98217, O98218, O98219, O98222, O98223, P01916, P04232, P04440, P13763, P79493, P79608, Q0P0L4, Q0ZFN3, Q14279, Q27S71, Q29682, Q29684, Q29698, Q29714, Q29775, Q29776, Q29778, Q29779, Q29781, Q29827, Q29828, Q29879, Q29880, Q29898, Q29977, Q2MGW3, Q30015, Q30031, Q30032, Q30033, Q30034, Q30050, Q30051, Q30052, Q30053, Q30054, Q30055, Q30174, Q4GY31, Q4JHD8, Q5ENE0, Q5ENE1, Q5ENW3, Q5EP46, Q5EP47, Q5EP49, Q5EP51, Q5EP52, Q5EP53, Q5EP56, Q5I4H8, Q5I4H9, Q5ISH4, Q5ISH5, Q5SQ73, Q5STP2, Q5YLA6, Q6IVX1, Q6LBX2, Q6LBX3, Q6LBX4, Q6LBX5, Q6LBX6, Q6LBX7, Q6PWX6, Q6TAS4, Q714U1, Q714U2, Q7YQ10, Q860Z7, Q8HWL7, Q8HWT5, Q8SNC4, Q95HC1, Q95IT7, Q95IT8, Q9BD13, Q9GIM2, Q9GIM4, Q9GIX6, Q9GJ41, Q9MY67, Q9TNT7, Q9TQE2, Q9XS11, Q9XS12
UCSC ID: uc011hgd.2
RefSeq Accession: NM_002121
Protein: P04440 (aka DPB1_HUMAN