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P01909

- DQA1_HUMAN

UniProt

P01909 - DQA1_HUMAN

Protein

HLA class II histocompatibility antigen, DQ alpha 1 chain

Gene

HLA-DQA1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 1 (21 Jul 1986)
      Previous versions | rss
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    Functioni

    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.

    GO - Molecular functioni

    1. MHC class II receptor activity Source: UniProtKB
    2. peptide antigen binding Source: UniProt

    GO - Biological processi

    1. antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
    2. cytokine-mediated signaling pathway Source: Reactome
    3. immune response Source: UniProtKB
    4. interferon-gamma-mediated signaling pathway Source: Reactome
    5. T cell costimulation Source: Reactome
    6. T cell receptor signaling pathway Source: Reactome

    Keywords - Biological processi

    Immunity

    Enzyme and pathway databases

    ReactomeiREACT_121399. MHC class II antigen presentation.
    REACT_12555. Downstream TCR signaling.
    REACT_12582. Phosphorylation of CD3 and TCR zeta chains.
    REACT_12596. Translocation of ZAP-70 to Immunological synapse.
    REACT_12623. Generation of second messenger molecules.
    REACT_19324. PD-1 signaling.
    REACT_25078. Interferon gamma signaling.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    HLA class II histocompatibility antigen, DQ alpha 1 chain
    Alternative name(s):
    DC-1 alpha chain
    DC-alpha
    HLA-DCA
    MHC class II DQA1
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:4942. HLA-DQA1.

    Subcellular locationi

    GO - Cellular componenti

    1. clathrin-coated endocytic vesicle membrane Source: Reactome
    2. endocytic vesicle membrane Source: Reactome
    3. endosome membrane Source: UniProtKB-SubCell
    4. ER to Golgi transport vesicle membrane Source: Reactome
    5. Golgi membrane Source: Reactome
    6. integral component of lumenal side of endoplasmic reticulum membrane Source: Reactome
    7. integral component of plasma membrane Source: UniProtKB
    8. lysosomal membrane Source: Reactome
    9. membrane Source: UniProtKB
    10. MHC class II protein complex Source: UniProt
    11. plasma membrane Source: Reactome
    12. trans-Golgi network membrane Source: Reactome
    13. transport vesicle membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Endoplasmic reticulum, Endosome, Golgi apparatus, Lysosome, Membrane, MHC II

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti555. Celiac disease.
    243377. Diabetes mellitus type 1.
    PharmGKBiPA35066.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 23231 PublicationAdd
    BLAST
    Chaini24 – 254231HLA class II histocompatibility antigen, DQ alpha 1 chainPRO_0000018970Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi103 – 1031N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi132 ↔ 1883 PublicationsPROSITE-ProRule annotation
    Glycosylationi143 – 1431N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiP01909.
    PaxDbiP01909.
    PRIDEiP01909.

    Expressioni

    Gene expression databases

    ArrayExpressiP01909.
    BgeeiP01909.
    CleanExiHS_HLA-DQA1.
    GenevestigatoriP01909.

    Organism-specific databases

    HPAiHPA012315.

    Interactioni

    Subunit structurei

    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.4 Publications

    Protein-protein interaction databases

    BioGridi109362. 8 interactions.
    IntActiP01909. 11 interactions.

    Structurei

    Secondary structure

    1
    254
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi29 – 4012
    Turni41 – 444
    Beta strandi45 – 528
    Beta strandi55 – 617
    Turni62 – 654
    Beta strandi66 – 683
    Helixi72 – 776
    Helixi81 – 10121
    Turni102 – 1043
    Beta strandi113 – 1208
    Beta strandi124 – 1263
    Beta strandi128 – 13710
    Beta strandi143 – 1486
    Beta strandi151 – 1533
    Beta strandi157 – 1593
    Beta strandi170 – 1789
    Beta strandi186 – 1916
    Beta strandi195 – 1973
    Beta strandi199 – 2024

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1JK8X-ray2.40A27-206[»]
    1NBNmodel-A27-206[»]
    1S9VX-ray2.22A/D24-216[»]
    1UVQX-ray1.80A24-218[»]
    2NNAX-ray2.10A24-206[»]
    4GG6X-ray3.20A/C24-206[»]
    4OZFX-ray2.70A24-206[»]
    4OZGX-ray3.00A/C24-206[»]
    4OZHX-ray2.80A/C24-206[»]
    4OZIX-ray3.20A/C24-206[»]
    ProteinModelPortaliP01909.
    SMRiP01909. Positions 27-205.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP01909.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini24 – 216193ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini240 – 25415CytoplasmicAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei217 – 23923HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini112 – 20493Ig-like C1-typeAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni24 – 11996Alpha-1Add
    BLAST
    Regioni120 – 20384Alpha-2Add
    BLAST
    Regioni204 – 21613Connecting peptideAdd
    BLAST

    Sequence similaritiesi

    Belongs to the MHC class II family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG26577.
    HOVERGENiHBG006862.
    InParanoidiP04226.
    KOiK06752.
    OMAiHWEPEIS.
    PhylomeDBiP01909.
    TreeFamiTF333797.

    Family and domain databases

    Gene3Di2.60.40.10. 1 hit.
    3.10.320.10. 1 hit.
    InterProiIPR007110. 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.
    IPR001003. MHC_II_a_N.
    [Graphical view]
    PfamiPF07654. C1-set. 1 hit.
    PF00993. MHC_II_alpha. 1 hit.
    [Graphical view]
    SMARTiSM00407. IGc1. 1 hit.
    SM00920. MHC_II_alpha. 1 hit.
    [Graphical view]
    SUPFAMiSSF54452. SSF54452. 1 hit.
    PROSITEiPS50835. IG_LIKE. 1 hit.
    PS00290. IG_MHC. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P01909-1 [UniParc]FASTAAdd to Basket

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    MILNKALMLG ALALTTVMSP CGGEDIVADH VASYGVNLYQ SYGPSGQYTH    50
    EFDGDEQFYV DLGRKETVWC LPVLRQFRFD PQFALTNIAV LKHNLNSLIK 100
    RSNSTAATNE VPEVTVFSKS PVTLGQPNIL ICLVDNIFPP VVNITWLSNG 150
    HSVTEGVSET SFLSKSDHSF FKISYLTLLP SAEESYDCKV EHWGLDKPLL 200
    KHWEPEIPAP MSELTETVVC ALGLSVGLVG IVVGTVFIIR GLRSVGASRH 250
    QGPL 254
    Length:254
    Mass (Da):27,805
    Last modified:July 21, 1986 - v1
    Checksum:i84E12B5A80E2A028
    GO

    Sequence cautioni

    The sequence AAD56720.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti11 – 111A → S in AAA59760. (PubMed:3584986)Curated
    Sequence conflicti23 – 275Missing in AAA59754. (PubMed:3879967)Curated
    Sequence conflicti91 – 911L → H in AAA59760. (PubMed:3584986)Curated
    Sequence conflicti107 – 1071A → P in AAA59754. (PubMed:3879967)Curated
    Sequence conflicti156 – 1561G → D in CAA25141. (PubMed:6584734)Curated
    Sequence conflicti213 – 2131E → D in AAA59754. (PubMed:3879967)Curated

    Polymorphismi

    The following alleles of DQA1 are known: DQA1*01:01, DQA1*01:02, DQA1*01:03, DQA1*01:04, DQA1*01:05, DQA1*01:06, DQA1*01:07, DQA1*02:01, DQA1*03:01, DQA1*03:02, DQA1*03:03, DQA1*04:01, DQA1*04:02, DQA1*04:03, DQA1*04:04, DQA1*05:01, DQA1*05:02, DQA1*05:03, DQA1*05:04, DQA1*05:05, DQA1*05:06, DQA1*05:07, DQA1*05:08, DQA1*05:09, DQA1*06:01, DQA1*06:02. The sequence shown is that of DQA1*05:01.
    DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease patients. A minority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02). DQ0602 (heterodimer of DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes (T1D) and strong susceptibility to narcolepsy.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti8 – 81M → L in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*04:01 and allele DQA1*06:01.
    Corresponds to variant rs1047989 [ dbSNP | Ensembl ].
    VAR_033399
    Natural varianti11 – 111A → T in allele DQA1*05:05, allele DQA1*05:08 and allele DQA1*05:09.
    Corresponds to variant rs1047992 [ dbSNP | Ensembl ].
    VAR_033400
    Natural varianti17 – 171V → M in allele DQA1*01:04 and allele DQA1*01:05.
    Corresponds to variant rs12722039 [ dbSNP | Ensembl ].
    VAR_050380
    Natural varianti18 – 181M → T in allele DQA1*03:03.
    Corresponds to variant rs12722040 [ dbSNP | Ensembl ].
    VAR_050381
    Natural varianti24 – 241E → K in allele DQA1*05:09.
    Corresponds to variant rs41545012 [ dbSNP | Ensembl ].
    VAR_060493
    Natural varianti25 – 251D → G in allele DQA1*01:04 and allele DQA1*01:05.
    Corresponds to variant rs12722042 [ dbSNP | Ensembl ].
    VAR_050382
    Natural varianti34 – 341Y → C in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    Corresponds to variant rs1129740 [ dbSNP | Ensembl ].
    VAR_060494
    Natural varianti41 – 411S → F in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    Corresponds to variant rs1071630 [ dbSNP | Ensembl ].
    VAR_033401
    Natural varianti44 – 441P → L in allele DQA1*05:04.
    Corresponds to variant rs41549715 [ dbSNP | Ensembl ].
    VAR_060495
    Natural varianti48 – 481Y → F in allele DQA1*02:01, allele DQA1*01:03, allele DQA1*06:01 and allele DQA1*06:02.
    Corresponds to variant rs12722051 [ dbSNP | Ensembl ].
    VAR_033402
    Natural varianti49 – 491T → S in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03.
    Corresponds to variant rs3188011 [ dbSNP | Ensembl ].
    VAR_033403
    Natural varianti57 – 571Q → E in allele DQA1*01:01, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03.
    Corresponds to variant rs10093 [ dbSNP | Ensembl ].
    VAR_014604
    Natural varianti63 – 631G → E in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03.
    Corresponds to variant rs1142323 [ dbSNP | Ensembl ].
    VAR_060496
    Natural varianti64 – 641R → K in allele DQA1*01:03.
    Corresponds to variant rs36219699 [ dbSNP | Ensembl ].
    VAR_050383
    Natural varianti67 – 671T → A in allele DQA1*01:06.
    Corresponds to variant rs41543221 [ dbSNP | Ensembl ].
    VAR_060497
    Natural varianti68 – 681V → A in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    Corresponds to variant rs1142324 [ dbSNP | Ensembl ].
    VAR_060498
    Natural varianti70 – 701C → K in allele DQA1*02:01; requires 2 nucleotide substitutions.
    VAR_060499
    Natural varianti70 – 701C → Q in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03; requires 2 nucleotide substitutions.
    VAR_060500
    Natural varianti70 – 701C → R in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    VAR_060501
    Natural varianti70 – 701C → Y.
    Corresponds to variant rs3207983 [ dbSNP | Ensembl ].
    VAR_033404
    Natural varianti71 – 711L → W in allele DQA1*01:01, allele DQA1*01:02,allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    Corresponds to variant rs1142328 [ dbSNP | Ensembl ].
    VAR_060502
    Natural varianti73 – 731V → D.
    VAR_033406
    Natural varianti73 – 731V → E in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    Corresponds to variant rs3208105 [ dbSNP | Ensembl ].
    VAR_060503
    Natural varianti73 – 731V → L in allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03.
    VAR_033405
    Natural varianti74 – 741L → F in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03.
    Corresponds to variant rs9272698 [ dbSNP | Ensembl ].
    VAR_060504
    Natural varianti75 – 751R → H in allele DQA1*02:01.
    VAR_060505
    Natural varianti75 – 751R → S in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    Corresponds to variant rs9272699 [ dbSNP | Ensembl ].
    VAR_060506
    Natural varianti76 – 761Q → K in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    Corresponds to variant rs1048052 [ dbSNP | Ensembl ].
    VAR_060507
    Natural varianti76 – 761Q → R in allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03.
    VAR_060508
    Natural varianti77 – 771F → L in allele DQA1*02:01.
    Corresponds to variant rs3188043 [ dbSNP | Ensembl ].
    VAR_060509
    Natural varianti78 – 781R → GG in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05,allele DQA1*01:06 and allele DQA1*01:07.
    Corresponds to variant rs4193 [ dbSNP | Ensembl ].
    VAR_060510
    Natural varianti78 – 781R → RR in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03.
    VAR_060511
    Natural varianti78 – 781R → S.
    Corresponds to variant rs36219345 [ dbSNP | Ensembl ].
    VAR_033407
    Natural varianti81 – 811P → R in allele DQA1*05:02.
    Corresponds to variant rs41541412 [ dbSNP | Ensembl ].
    VAR_060512
    Natural varianti83 – 831F → G in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07; requires 2 nucleotide substitutions.
    VAR_060513
    Natural varianti86 – 861T → R in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    Corresponds to variant rs1048073 [ dbSNP | Ensembl ].
    VAR_033408
    Natural varianti88 – 881I → M in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    Corresponds to variant rs1048080 [ dbSNP | Ensembl ].
    VAR_033409
    Natural varianti91 – 911L → A in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07; requires 2 nucleotide substitutions.
    VAR_060514
    Natural varianti91 – 911L → T in allele DQA1*04:01, allele DQA1*04:02, allele DQA1*04:04, allele DQA1*06:01 and allele DQA1*06:02; requires 2 nucleotide substitutions.
    VAR_060515
    Natural varianti91 – 911L → V.
    Corresponds to variant rs1048085 [ dbSNP | Ensembl ].
    VAR_033410
    Natural varianti97 – 971S → I in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02, allele DQA1*03:03, allele DQA1*04:01, allele DQA1*04:02, allele DQA1*04:04, allele DQA1*06:01 and allele DQA1*06:02.
    VAR_060516
    Natural varianti98 – 981L → M in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    VAR_060517
    Natural varianti98 – 981L → V in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03.
    VAR_060518
    Natural varianti101 – 1011R → C in allele DQA1*01:07.
    VAR_060519
    Natural varianti102 – 1021S → Y in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06 and allele DQA1*01:07.
    Corresponds to variant rs1129808 [ dbSNP | Ensembl ].
    VAR_050384
    Natural varianti124 – 1241L → V in allele DQA1*05:06.
    VAR_060520
    Natural varianti129 – 1291I → T in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02, allele DQA1*03:03, allele DQA1*04:01, allele DQA1*04:02, allele DQA1*04:04, allele DQA1*06:01 and allele DQA1*06:02.
    Corresponds to variant rs707952 [ dbSNP | Ensembl ].
    VAR_050385
    Natural varianti151 – 1511H → Q in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:04, allele DQA1*01:05 and allele DQA1*01:07.
    Corresponds to variant rs707950 [ dbSNP | Ensembl ].
    VAR_050386
    Natural varianti152 – 1521S → A in allele DQA1*01:03.
    VAR_060521
    Natural varianti160 – 1601T → I in allele DQA1*04:02.
    VAR_060522
    Natural varianti161 – 1611S → I in allele DQA1*05:08.
    VAR_060524
    Natural varianti161 – 1611S → R in allele DQA1*06:02.
    VAR_060523
    Natural varianti175 – 1751Y → H in allele DQA1*04:04.
    VAR_060525
    Natural varianti178 – 1781L → F in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02, allele DQA1*03:03, allele DQA1*04:01, allele DQA1*04:02, allele DQA1*04:04, allele DQA1*06:01 and allele DQA1*06:02.
    Corresponds to variant rs707949 [ dbSNP | Ensembl ].
    VAR_060526
    Natural varianti182 – 1821A → D in allele DQA1*03:02 and allele DQA1*03:03.
    VAR_060527
    Natural varianti182 – 1821A → S in allele DQA1*05:03, allele DQA1*05:06 and allele DQA1*05:07.
    VAR_060528
    Natural varianti183 – 1831E → D in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02, allele DQA1*03:03, allele DQA1*04:01, allele DQA1*04:02, allele DQA1*04:04, allele DQA1*06:01 and allele DQA1*06:02.
    Corresponds to variant rs707963 [ dbSNP | Ensembl ].
    VAR_060529
    Natural varianti185 – 1851S → I in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02, allele DQA1*03:03, allele DQA1*04:01, allele DQA1*04:02, allele DQA1*04:04, allele DQA1*06:01 and allele DQA1*06:02.
    VAR_060530
    Natural varianti197 – 1971K → E in allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02, allele DQA1*03:03, allele DQA1*04:01, allele DQA1*04:02, allele DQA1*04:04, allele DQA1*06:01 and allele DQA1*06:02.
    VAR_060531
    Natural varianti197 – 1971K → Q in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05 and allele DQA1*01:07.
    VAR_060532
    Natural varianti209 – 2091A → T in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03.
    Corresponds to variant rs9272785 [ dbSNP | Ensembl ].
    VAR_050387
    Natural varianti221 – 2211A → T in allele DQA1*01:04.
    Corresponds to variant rs35087390 [ dbSNP | Ensembl ].
    VAR_050388
    Natural varianti229 – 2291V → M in allele DQA1*01:02.
    Corresponds to variant rs9260 [ dbSNP | Ensembl ].
    VAR_033411
    Natural varianti230 – 2301G → C in allele DQA1*05:07.
    VAR_060533
    Natural varianti237 – 2371F → L in allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03.
    Corresponds to variant rs1048430 [ dbSNP | Ensembl ].
    VAR_033412
    Natural varianti240 – 2401R → Q in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04 and allele DQA1*01:05.
    Corresponds to variant rs9272793 [ dbSNP | Ensembl ].
    VAR_033413

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X00033 mRNA. Translation: CAA24917.1.
    X00370 mRNA. No translation available.
    X00452 mRNA. Translation: CAA25141.1.
    M16995 mRNA. Translation: AAA59760.1.
    U92032 Genomic DNA. Translation: AAB91990.1.
    AY663395 Genomic DNA. Translation: AAU87978.1.
    AY663398 Genomic DNA. Translation: AAU87987.1.
    AY663400 Genomic DNA. Translation: AAU87992.1.
    AY663406 Genomic DNA. Translation: AAU88007.1.
    AY663411 Genomic DNA. Translation: AAU88022.1.
    AY663413 Genomic DNA. Translation: AAU88028.1.
    DQ178403
    , DQ178400, DQ178401, DQ178402 Genomic DNA. Translation: ABA86855.1.
    DQ178407
    , DQ178404, DQ178405, DQ178406 Genomic DNA. Translation: ABA86856.1.
    DQ178411
    , DQ178408, DQ178409, DQ178410 Genomic DNA. Translation: ABA86857.1.
    DQ178415
    , DQ178412, DQ178413, DQ178414 Genomic DNA. Translation: ABA86858.1.
    M29616, M29613 Genomic DNA. Translation: AAA59759.1.
    AF322870
    , AF322867, AF322868, AF322869 Genomic DNA. Translation: AAK11577.1.
    AF395700
    , AF395697, AF395698, AF395699 Genomic DNA. Translation: AAM69677.1.
    CR450297 mRNA. Translation: CAG29293.1.
    AM042559 Genomic DNA. Translation: CAJ14960.1.
    AM042560 Genomic DNA. Translation: CAJ14961.1.
    AK313975 mRNA. Translation: BAG36689.1.
    BX248406 Genomic DNA. Translation: CAM26191.1.
    AL662789 Genomic DNA. Translation: CAI18230.1.
    Z84489 Genomic DNA. Translation: CAB06491.1.
    BC008585 mRNA. Translation: AAH08585.1.
    BC157865 mRNA. Translation: AAI57866.1.
    L46875 mRNA. No translation available.
    L46876 mRNA. No translation available.
    L46877 mRNA. No translation available.
    L46878 mRNA. No translation available.
    L46880 mRNA. No translation available.
    L46881 mRNA. No translation available.
    M11124 mRNA. Translation: AAA59754.1.
    M20431 mRNA. Translation: AAA59758.1.
    L34082 mRNA. Translation: AAC41950.1.
    L34085 mRNA. Translation: AAC41953.1.
    L34086 mRNA. Translation: AAC41954.1.
    L34089 mRNA. Translation: AAC41957.1.
    L34090 mRNA. Translation: AAC41958.1.
    L34092 mRNA. Translation: AAC41960.1.
    L34093 mRNA. Translation: AAC41961.1.
    L34094 mRNA. Translation: AAC41962.1.
    L42625 mRNA. Translation: AAA85334.1.
    AY197775 Genomic DNA. Translation: AAO45622.1.
    AY547314 Genomic DNA. Translation: AAS49496.1.
    AY206406 Genomic DNA. Translation: AAO47362.1.
    AY585236 Genomic DNA. Translation: AAT09985.1.
    M34997 Genomic DNA. Translation: AAA35772.1.
    M34999 Genomic DNA. Translation: AAA74633.1.
    U85035 Genomic DNA. Translation: AAB41891.1.
    AF109734 Genomic DNA. Translation: AAD56720.1. Sequence problems.
    U03675 Genomic DNA. Translation: AAB60341.1.
    M20506 mRNA. Translation: AAA59774.1.
    J00199 mRNA. No translation available.
    M17846 mRNA. Translation: AAA59707.1.
    PIRiA02211. HLHUD1.
    A02213. HLHUDQ.
    A02214. HLHUD7.
    A02215. HLHU3C.
    A93326. HLHUDC.
    B27628.
    D34512.
    RefSeqiNP_002113.2. NM_002122.3.
    XP_003120317.1. XM_003120269.3.
    XP_005275010.1. XM_005274953.2.
    XP_005275165.1. XM_005275108.2.
    XP_005275599.1. XM_005275542.2.
    XP_005276137.1. XM_005276080.2.
    XP_006725547.1. XM_006725484.1.
    XP_006726062.1. XM_006725999.1.
    UniGeneiHs.387679.
    Hs.591798.
    Hs.706240.

    Genome annotation databases

    EnsembliENST00000343139; ENSP00000339398; ENSG00000196735.
    ENST00000374949; ENSP00000364087; ENSG00000196735.
    ENST00000383251; ENSP00000372738; ENSG00000206305.
    ENST00000395363; ENSP00000378767; ENSG00000196735.
    ENST00000399675; ENSP00000382583; ENSG00000206305.
    ENST00000399678; ENSP00000382586; ENSG00000206305.
    ENST00000418023; ENSP00000387892; ENSG00000232062.
    ENST00000444296; ENSP00000413237; ENSG00000232062.
    GeneIDi100509457.
    3117.
    KEGGihsa:100509457.
    hsa:3117.
    UCSCiuc011fnq.1. human.

    Polymorphism databases

    DMDMi122188.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X00033 mRNA. Translation: CAA24917.1 .
    X00370 mRNA. No translation available.
    X00452 mRNA. Translation: CAA25141.1 .
    M16995 mRNA. Translation: AAA59760.1 .
    U92032 Genomic DNA. Translation: AAB91990.1 .
    AY663395 Genomic DNA. Translation: AAU87978.1 .
    AY663398 Genomic DNA. Translation: AAU87987.1 .
    AY663400 Genomic DNA. Translation: AAU87992.1 .
    AY663406 Genomic DNA. Translation: AAU88007.1 .
    AY663411 Genomic DNA. Translation: AAU88022.1 .
    AY663413 Genomic DNA. Translation: AAU88028.1 .
    DQ178403
    , DQ178400 , DQ178401 , DQ178402 Genomic DNA. Translation: ABA86855.1 .
    DQ178407
    , DQ178404 , DQ178405 , DQ178406 Genomic DNA. Translation: ABA86856.1 .
    DQ178411
    , DQ178408 , DQ178409 , DQ178410 Genomic DNA. Translation: ABA86857.1 .
    DQ178415
    , DQ178412 , DQ178413 , DQ178414 Genomic DNA. Translation: ABA86858.1 .
    M29616 , M29613 Genomic DNA. Translation: AAA59759.1 .
    AF322870
    , AF322867 , AF322868 , AF322869 Genomic DNA. Translation: AAK11577.1 .
    AF395700
    , AF395697 , AF395698 , AF395699 Genomic DNA. Translation: AAM69677.1 .
    CR450297 mRNA. Translation: CAG29293.1 .
    AM042559 Genomic DNA. Translation: CAJ14960.1 .
    AM042560 Genomic DNA. Translation: CAJ14961.1 .
    AK313975 mRNA. Translation: BAG36689.1 .
    BX248406 Genomic DNA. Translation: CAM26191.1 .
    AL662789 Genomic DNA. Translation: CAI18230.1 .
    Z84489 Genomic DNA. Translation: CAB06491.1 .
    BC008585 mRNA. Translation: AAH08585.1 .
    BC157865 mRNA. Translation: AAI57866.1 .
    L46875 mRNA. No translation available.
    L46876 mRNA. No translation available.
    L46877 mRNA. No translation available.
    L46878 mRNA. No translation available.
    L46880 mRNA. No translation available.
    L46881 mRNA. No translation available.
    M11124 mRNA. Translation: AAA59754.1 .
    M20431 mRNA. Translation: AAA59758.1 .
    L34082 mRNA. Translation: AAC41950.1 .
    L34085 mRNA. Translation: AAC41953.1 .
    L34086 mRNA. Translation: AAC41954.1 .
    L34089 mRNA. Translation: AAC41957.1 .
    L34090 mRNA. Translation: AAC41958.1 .
    L34092 mRNA. Translation: AAC41960.1 .
    L34093 mRNA. Translation: AAC41961.1 .
    L34094 mRNA. Translation: AAC41962.1 .
    L42625 mRNA. Translation: AAA85334.1 .
    AY197775 Genomic DNA. Translation: AAO45622.1 .
    AY547314 Genomic DNA. Translation: AAS49496.1 .
    AY206406 Genomic DNA. Translation: AAO47362.1 .
    AY585236 Genomic DNA. Translation: AAT09985.1 .
    M34997 Genomic DNA. Translation: AAA35772.1 .
    M34999 Genomic DNA. Translation: AAA74633.1 .
    U85035 Genomic DNA. Translation: AAB41891.1 .
    AF109734 Genomic DNA. Translation: AAD56720.1 . Sequence problems.
    U03675 Genomic DNA. Translation: AAB60341.1 .
    M20506 mRNA. Translation: AAA59774.1 .
    J00199 mRNA. No translation available.
    M17846 mRNA. Translation: AAA59707.1 .
    PIRi A02211. HLHUD1.
    A02213. HLHUDQ.
    A02214. HLHUD7.
    A02215. HLHU3C.
    A93326. HLHUDC.
    B27628.
    D34512.
    RefSeqi NP_002113.2. NM_002122.3.
    XP_003120317.1. XM_003120269.3.
    XP_005275010.1. XM_005274953.2.
    XP_005275165.1. XM_005275108.2.
    XP_005275599.1. XM_005275542.2.
    XP_005276137.1. XM_005276080.2.
    XP_006725547.1. XM_006725484.1.
    XP_006726062.1. XM_006725999.1.
    UniGenei Hs.387679.
    Hs.591798.
    Hs.706240.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1JK8 X-ray 2.40 A 27-206 [» ]
    1NBN model - A 27-206 [» ]
    1S9V X-ray 2.22 A/D 24-216 [» ]
    1UVQ X-ray 1.80 A 24-218 [» ]
    2NNA X-ray 2.10 A 24-206 [» ]
    4GG6 X-ray 3.20 A/C 24-206 [» ]
    4OZF X-ray 2.70 A 24-206 [» ]
    4OZG X-ray 3.00 A/C 24-206 [» ]
    4OZH X-ray 2.80 A/C 24-206 [» ]
    4OZI X-ray 3.20 A/C 24-206 [» ]
    ProteinModelPortali P01909.
    SMRi P01909. Positions 27-205.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109362. 8 interactions.
    IntActi P01909. 11 interactions.

    Polymorphism databases

    DMDMi 122188.

    Proteomic databases

    MaxQBi P01909.
    PaxDbi P01909.
    PRIDEi P01909.

    Protocols and materials databases

    DNASUi 3117.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000343139 ; ENSP00000339398 ; ENSG00000196735 .
    ENST00000374949 ; ENSP00000364087 ; ENSG00000196735 .
    ENST00000383251 ; ENSP00000372738 ; ENSG00000206305 .
    ENST00000395363 ; ENSP00000378767 ; ENSG00000196735 .
    ENST00000399675 ; ENSP00000382583 ; ENSG00000206305 .
    ENST00000399678 ; ENSP00000382586 ; ENSG00000206305 .
    ENST00000418023 ; ENSP00000387892 ; ENSG00000232062 .
    ENST00000444296 ; ENSP00000413237 ; ENSG00000232062 .
    GeneIDi 100509457.
    3117.
    KEGGi hsa:100509457.
    hsa:3117.
    UCSCi uc011fnq.1. human.

    Organism-specific databases

    CTDi 3117.
    GeneCardsi GC06P032595.
    GC06Pn32538.
    GC06Po32698.
    GeneReviewsi HLA-DQA1.
    HGNCi HGNC:4942. HLA-DQA1.
    HPAi HPA012315.
    MIMi 146880. gene.
    neXtProti NX_P01909.
    Orphaneti 555. Celiac disease.
    243377. Diabetes mellitus type 1.
    PharmGKBi PA35066.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG26577.
    HOVERGENi HBG006862.
    InParanoidi P04226.
    KOi K06752.
    OMAi HWEPEIS.
    PhylomeDBi P01909.
    TreeFami TF333797.

    Enzyme and pathway databases

    Reactomei REACT_121399. MHC class II antigen presentation.
    REACT_12555. Downstream TCR signaling.
    REACT_12582. Phosphorylation of CD3 and TCR zeta chains.
    REACT_12596. Translocation of ZAP-70 to Immunological synapse.
    REACT_12623. Generation of second messenger molecules.
    REACT_19324. PD-1 signaling.
    REACT_25078. Interferon gamma signaling.

    Miscellaneous databases

    ChiTaRSi HLA-DQA1. human.
    EvolutionaryTracei P01909.
    NextBioi 12366.
    PROi P01909.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P01909.
    Bgeei P01909.
    CleanExi HS_HLA-DQA1.
    Genevestigatori P01909.

    Family and domain databases

    Gene3Di 2.60.40.10. 1 hit.
    3.10.320.10. 1 hit.
    InterProi 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.
    IPR001003. MHC_II_a_N.
    [Graphical view ]
    Pfami PF07654. C1-set. 1 hit.
    PF00993. MHC_II_alpha. 1 hit.
    [Graphical view ]
    SMARTi SM00407. IGc1. 1 hit.
    SM00920. MHC_II_alpha. 1 hit.
    [Graphical view ]
    SUPFAMi SSF54452. SSF54452. 1 hit.
    PROSITEi PS50835. IG_LIKE. 1 hit.
    PS00290. IG_MHC. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The heavy chain of human B-cell alloantigen HLA-DS has a variable N-terminal region and a constant immunoglobulin-like region."
      Chang H.-C., Moriuchi T., Silver J.
      Nature 305:813-815(1983) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE DQA1*02:01).
    2. "Both alpha and beta chains of HLA-DC class II histocompatibility antigens display extensive polymorphism in their amino-terminal domains."
      Schenning L., Larhammar D., Bill P., Wiman K., Jonsson A.-K., Rask L., Peterson P.A.
      EMBO J. 3:447-452(1984) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE DQA1*05:01).
    3. "Isotypic and allotypic variation of human class II histocompatibility antigen alpha-chain genes."
      Auffray C., Lillie J.W., Arnot D., Grossberger D., Kappes D., Strominger J.L.
      Nature 308:327-333(1984) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELES DQA1*01:02 AND ALLELE DQA1*03:01).
    4. "Complete sequence of the HLA DQ alpha and DQ beta cDNA from a DR5/DQw3 cell line."
      Schiffenbauer J., Didier D.K., Klearman M., Rice K., Shuman S., Tieber V.L., Kittlesen D.J., Schwartz B.D.
      J. Immunol. 139:228-233(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE DQA1*05:01).
    5. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE DQA1*05:01).
    6. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELES DQA1*01:01; DQA1*01:02 AND DQA1*03:01).
    7. "Four novel human leukocyte antigen-DQA1 alleles identified in the Korean population."
      Lee K.W., Jung Y.A., Oh D.H.
      Tissue Antigens 68:167-172(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELES DQA1*01:02; DQA1*05:06; DQA1*05:07 AND DQA1*05:08).
    8. "Class II genes of the human major histocompatibility complex. Comparisons of the DQ and DX alpha and beta genes."
      Jonsson A.-K., Hyldig-Nielsen J.-J., Servenius B., Larhammar D., Andersson G., Joergensen F., Peterson P.A., Rask L.
      J. Biol. Chem. 262:8767-8777(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE DQA1*03:01).
    9. "Identification of a novel DQA1 allele, DQA1*01012, and confirmatory sequence of DQA1*01011."
      Ashdown M.L., Leas L., Gavrilidis A., Wood J.M., Simons M.J.
      Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE DQA1*01:01).
    10. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ALLELE DQA1*02:01).
    11. "New and confirmatory HLA sequences by SBT."
      Voorter C.E., van den Berg-Loonen E.M.
      Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELES DQA1*01:02 AND DQA1*05:09).
    12. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ALLELE DQA1*01:01).
      Tissue: Trachea.
    13. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ALLELES DQA1*01:02; DQA1*03:01 AND DQA1*05:01).
    14. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ALLELES DQA1*03:01 AND DQA1*05:01).
      Tissue: Lymph.
    15. "Sequence polymorphisms in HLA-DQA1 exon1."
      Yasunaga S., Kimura A., Sasazuki T.
      Submitted (JUL-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-27 (ALLELES DQA1*01:01/DQA1*01:02/DQA1*01:03; DQA1*01:04; DQA1*01:05; DQA1*02:01/DQA1*03:01/DQA1*03:03; DQA1*04:01/DQA1*06:01 AND DQA1*05:01/DQA1*05:03/DQA1*05:05).
      Tissue: B-cell.
    16. "Nucleotide sequence of an HLA-DQ alpha chain derived from a DRw9 cell line: genetic and evolutionary implications."
      Moriuchi J., Moriuchi T., Silver J.
      Proc. Natl. Acad. Sci. U.S.A. 82:3420-3424(1985) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 19-254 (ALLELE DQA1*03:02).
    17. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 23-254 (ALLELE DQA1*01:02).
    18. "Different contribution of HLA-DR and -DQ genes in susceptibility and resistance to insulin-dependent diabetes mellitus (IDDM)."
      Yasunaga S., Kimura A., Hamaguchi K., Ronningen K.S., Sasazuki T.
      Tissue Antigens 47:37-48(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 24-250 (ALLELE DQA1*03:02/DQA1*03:03) AND NUCLEOTIDE SEQUENCE [MRNA] OF 24-249 (ALLELES DQA1*01:01; DQA1*01:03; DQA1*01:04; DQA1*04:01; DQA1*05:03; DQA1*05:05 AND DQA1*06:01).
    19. Yasunaga S.
      Submitted (JAN-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 24-249 (ALLELE DQA1*01:05).
    20. "Primary structure of human class II histocompatibility antigens 3rd communication. Amino acid sequence comparison between DR and DC subclass antigens derived from a lymphoblastoid B cell line homozygous at the HLA loci (HLA-A3,3; B7,7; Dw2,2; DR2,2: MT1,1; Dc1,1: MB1,1)."
      Goetz H., Kratzin H., Thinnes F.P., Yang C.-Y., Kruse T., Pauly E., Koelbel S., Egert G., Wernet P., Hilschmann N.
      Hoppe-Seyler's Z. Physiol. Chem. 364:749-755(1983) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 24-89; 102-120 AND 164-212 (ALLELE DQA1*01:02).
    21. "Molecular analysis of the HLA class II genes in two DRw6-related haplotypes, DRw13 DQw1 and DRw14 DQw3."
      Kao H.T., Gregersen P.K., Tang J.C., Takahashi T., Wang C.Y., Silver J.
      J. Immunol. 142:1743-1747(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 24-209 (ALLELE DQA1*05:01).
    22. "High-resolution genotyping of HLA-DQA1 in the GoKinD study and identification of novel alleles HLA-DQA1*040102, HLA-DQA1*0402 and HLA-DQA1*0404."
      Cordovado S.K., Hancock L.N., Simone A.E., Hendrix M., Mueller P.W.
      Tissue Antigens 65:448-458(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-203 (ALLELES DQA1*04:02 AND DQA1*04:04).
    23. "Identification of a novel HLA-DQA1*06 allele detected by sequence-based typing."
      Simone A.E., Cordovado S.K., Hendrix M.M., Mueller P.W.
      Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-203 (ALLELE DQA1*06:02).
    24. "Identification of a novel HLA-DQA1*01 allele detected by sequence-based typing."
      Hancock L.N., Cordovado S.K., Mueller P.W.
      Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-203 (ALLELE DQA1*01:07).
    25. "Sequence analysis of HLA class II genes from insulin-dependent diabetic individuals."
      Horn G.T., Bugawan T.L., Long C.M., Manos M.M., Erlich H.A.
      Hum. Immunol. 21:249-263(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-110 (ALLELE DQA1*01:02), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-109 (ALLELE DQA1*05:01).
    26. "DQA1 subtyping in Australian Aborigines. Additional evidence for heterogeneity."
      Trejaut J.A., Greville W.D., Dunckley H.
      Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-109 (ALLELE DQA1*05:04).
    27. "Identification of a novel HLA-DQA1 allele (DQA1*0106) by sequence-based DQA1 typing."
      Luo M., Blanchard J., Maclean I., Brunham R.
      Tissue Antigens 53:595-596(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 31-109 (ALLELE DQA1*01:06).
    28. "HLA class II nucleotide sequences, 1992."
      Marsh S.G., Bodomer J.G.
      Tissue Antigens 40:229-243(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 35-74 (ALLELE DQA1*05:02).
    29. "Molecular studies of a rare DR2/LD-5a/DQw3 HLA class II haplotype. Multiple genetic mechanisms in the generation of polymorphic HLA class II genes."
      Liu C.P., Bach F.H., Wu S.K.
      J. Immunol. 140:3631-3639(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 36-254 (ALLELE DQA1*05:01).
    30. Erratum
      Liu C.P., Bach F.H., Wu S.K.
      J. Immunol. 144:15441-15441(1990)
    31. "cDNA clone for the heavy chain of the human B cell alloantigen DC1: strong sequence homology to the HLA-DR heavy chain."
      Auffray C., Korman A.J., Roux-Dosseto M., Bono R., Strominger J.L.
      Proc. Natl. Acad. Sci. U.S.A. 79:6337-6341(1982) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 40-254 (ALLELE DQA1*03:01).
    32. "Ancient roots for polymorphism at the HLA-DQ alpha locus in primates."
      Gyllensten U.B., Erlich H.A.
      Proc. Natl. Acad. Sci. U.S.A. 86:9986-9990(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 41-102 (ALLELE DQA1*05:01), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 41-103 (ALLELE DQA1*01:02).
    33. "Allelic forms of the alpha- and beta-chain genes encoding DQw1-positive heterodimers."
      Turco E., Care A., Compagnone-Post P., Robinson C., Cascino I., Trucco M.
      Immunogenetics 26:282-290(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 119-254 (ALLELE DQA1*01:02).
    34. "Invariant chain structure and MHC class II function."
      Cresswell P.
      Cell 84:505-507(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    35. "Presentation of antigens by MHC class II molecules: getting the most out of them."
      Villadangos J.A.
      Mol. Immunol. 38:329-346(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    36. "Autophagy in MHC class II presentation: sampling from within."
      Menendez-Benito V., Neefjes J.
      Immunity 26:1-3(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    37. "MHC class II molecules on the move for successful antigen presentation."
      Rocha N., Neefjes J.
      EMBO J. 27:1-5(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    38. "MHC class II transport at a glance."
      Berger A.C., Roche P.A.
      J. Cell Sci. 122:1-4(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    39. "CD74 in antigen presentation, inflammation, and cancers of the gastrointestinal tract."
      Beswick E.J., Reyes V.E.
      World J. Gastroenterol. 15:2855-2861(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    40. "Structure of a human insulin peptide-HLA-DQ8 complex and susceptibility to type 1 diabetes."
      Lee K.H., Wucherpfennig K.W., Wiley D.C.
      Nat. Immunol. 2:501-507(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 27-207 OF HLA-DQA1/HLA-DQB1 HETERODIMER IN COMPLEX WITH INS PEPTIDE, SUBUNIT, GLYCOSYLATION AT ASN-103, DISULFIDE BOND.
    41. "Crystal structure of HLA-DQ0602 that protects against type 1 diabetes and confers strong susceptibility to narcolepsy."
      Siebold C., Hansen B.E., Wyer J.R., Harlos K., Esnouf R.E., Svejgaard A., Bell J.I., Strominger J.L., Jones E.Y., Fugger L.
      Proc. Natl. Acad. Sci. U.S.A. 101:1999-2004(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 24-219 OF HLA-DQA1/HLA-DQB1 HETERODIMER (HLA-DQ0602) IN COMPLEX WITH HCRT PEPTIDE, POLYMORPHISM, SUBUNIT, DISULFIDE BOND.
    42. "Structural basis for HLA-DQ2-mediated presentation of gluten epitopes in celiac disease."
      Kim C.Y., Quarsten H., Bergseng E., Khosla C., Sollid L.M.
      Proc. Natl. Acad. Sci. U.S.A. 101:4175-4179(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.22 ANGSTROMS) OF 24-216 OF HLA-DQA1/HLA-DQB1 HETERODIMER (DQ2) IN COMPLEX WITH TRITICUM AESTIVUM ALPHA/BETA-GLIADIN PEPTIDE, SUBUNIT, POLYMORPHISM.
    43. Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 24-206 OF HLA-DQA1/HLA-DQB1 HETERODIMER IN COMPLEX WITH TRITICUM AESTIVUM ALPHA/BETA-GLIADIN, SUBUNIT, DISULFIDE BOND.

    Entry informationi

    Entry nameiDQA1_HUMAN
    AccessioniPrimary (citable) accession number: P01909
    Secondary accession number(s): O19630
    , O19706, P01907, P01908, P04225, P04226, P05536, P79553, Q06751, Q29876, Q29994, Q2Q6Y6, Q2Q6Y7, Q2Q6Y8, Q2WCM3, Q30064, Q30067, Q30068, Q30070, Q30071, Q30072, Q30073, Q30086, Q30101, Q5Y7D5, Q5Y7F5, Q6ICU6, Q6PR46, Q6QDB1, Q860W2, Q860W4, Q9BD37, Q9TPM3, Q9UM31
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 21, 1986
    Last sequence update: July 21, 1986
    Last modified: October 1, 2014
    This is version 143 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3