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Protein

HLA class II histocompatibility antigen, DQ alpha 1 chain

Gene

HLA-DQA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

  • MHC class II receptor activity Source: UniProtKB
  • peptide antigen binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Immunity

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112637-MONOMER.
ReactomeiR-HSA-202424. Downstream TCR signaling.
R-HSA-202427. Phosphorylation of CD3 and TCR zeta chains.
R-HSA-202430. Translocation of ZAP-70 to Immunological synapse.
R-HSA-202433. Generation of second messenger molecules.
R-HSA-2132295. MHC class II antigen presentation.
R-HSA-389948. PD-1 signaling.
R-HSA-877300. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:4942. HLA-DQA1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini24 – 216ExtracellularSequence analysisAdd BLAST193
Transmembranei217 – 239HelicalSequence analysisAdd BLAST23
Topological domaini240 – 254CytoplasmicAdd BLAST15

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi3117.
MalaCardsiHLA-DQA1.
OpenTargetsiENSG00000206305.
ENSG00000257473.
Orphaneti555. Celiac disease.
243377. Diabetes mellitus type 1.
930. Idiopathic achalasia.
PharmGKBiPA35066.

Polymorphism and mutation databases

BioMutaiHLA-DQA1.
DMDMi122188.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 231 PublicationAdd BLAST23
ChainiPRO_000001897024 – 254HLA class II histocompatibility antigen, DQ alpha 1 chainAdd BLAST231

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi103N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi132 ↔ 188PROSITE-ProRule annotation3 Publications
Glycosylationi143N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PeptideAtlasiP01909.
PRIDEiP01909.

Expressioni

Gene expression databases

BgeeiENSG00000196735.
CleanExiHS_HLA-DQA1.
ExpressionAtlasiP01909. baseline and differential.
GenevisibleiP01909. HS.

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. 30 interactors.
IntActiP01909. 11 interactors.

Structurei

Secondary structure

1254
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi29 – 40Combined sources12
Turni41 – 44Combined sources4
Beta strandi45 – 52Combined sources8
Beta strandi55 – 61Combined sources7
Turni62 – 65Combined sources4
Beta strandi66 – 71Combined sources6
Helixi72 – 76Combined sources5
Helixi81 – 101Combined sources21
Turni102 – 104Combined sources3
Beta strandi113 – 120Combined sources8
Beta strandi124 – 126Combined sources3
Beta strandi128 – 137Combined sources10
Beta strandi143 – 148Combined sources6
Beta strandi151 – 153Combined sources3
Beta strandi157 – 159Combined sources3
Beta strandi170 – 178Combined sources9
Beta strandi186 – 191Combined sources6
Beta strandi195 – 197Combined sources3
Beta strandi199 – 203Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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[»]
5KSAX-ray2.00A24-206[»]
5KSBX-ray2.90A/C24-206[»]
ProteinModelPortaliP01909.
SMRiP01909.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP01909.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini112 – 204Ig-like C1-typeAdd BLAST93

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni24 – 119Alpha-1Add BLAST96
Regioni120 – 203Alpha-2Add BLAST84
Regioni204 – 216Connecting peptideAdd BLAST13

Sequence similaritiesi

Belongs to the MHC class II family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

HOVERGENiHBG006862.
InParanoidiP01909.
KOiK06752.
OMAiKETVWCL.
OrthoDBiEOG091G0IC9.
PhylomeDBiP01909.
TreeFamiTF333797.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
3.10.320.10. 1 hit.
InterProiIPR032431. C1-set_C.
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]
PfamiPF07654. C1-set. 1 hit.
PF16196. C1-set_C. 1 hit.
PF00993. MHC_II_alpha. 1 hit.
[Graphical view]
SMARTiSM00407. IGc1. 1 hit.
SM00920. MHC_II_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF54452. 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

« Hide

        10         20         30         40         50
MILNKALMLG ALALTTVMSP CGGEDIVADH VASYGVNLYQ SYGPSGQYTH
60 70 80 90 100
EFDGDEQFYV DLGRKETVWC LPVLRQFRFD PQFALTNIAV LKHNLNSLIK
110 120 130 140 150
RSNSTAATNE VPEVTVFSKS PVTLGQPNIL ICLVDNIFPP VVNITWLSNG
160 170 180 190 200
HSVTEGVSET SFLSKSDHSF FKISYLTLLP SAEESYDCKV EHWGLDKPLL
210 220 230 240 250
KHWEPEIPAP MSELTETVVC ALGLSVGLVG IVVGTVFIIR GLRSVGASRH

QGPL
Length:254
Mass (Da):27,805
Last modified:July 21, 1986 - v1
Checksum:i84E12B5A80E2A028
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti11A → S in AAA59760 (PubMed:3584986).Curated1
Sequence conflicti23 – 27Missing in AAA59754 (PubMed:3879967).Curated5
Sequence conflicti91L → H in AAA59760 (PubMed:3584986).Curated1
Sequence conflicti107A → P in AAA59754 (PubMed:3879967).Curated1
Sequence conflicti156G → D in CAA25141 (PubMed:6584734).Curated1
Sequence conflicti213E → D in AAA59754 (PubMed:3879967).Curated1

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_0333998M → 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 rs1047989dbSNPEnsembl.1
Natural variantiVAR_03340011A → T in allele DQA1*05:05, allele DQA1*05:08 and allele DQA1*05:09. Corresponds to variant rs1047992dbSNPEnsembl.1
Natural variantiVAR_05038017V → M in allele DQA1*01:04 and allele DQA1*01:05. Corresponds to variant rs12722039dbSNPEnsembl.1
Natural variantiVAR_05038118M → T in allele DQA1*03:03. Corresponds to variant rs12722040dbSNPEnsembl.1
Natural variantiVAR_06049324E → K in allele DQA1*05:09. Corresponds to variant rs41545012dbSNPEnsembl.1
Natural variantiVAR_05038225D → G in allele DQA1*01:04 and allele DQA1*01:05. Corresponds to variant rs12722042dbSNPEnsembl.1
Natural variantiVAR_06049434Y → 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 rs1129740dbSNPEnsembl.1
Natural variantiVAR_03340141S → 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 rs1071630dbSNPEnsembl.1
Natural variantiVAR_06049544P → L in allele DQA1*05:04. Corresponds to variant rs41549715dbSNPEnsembl.1
Natural variantiVAR_03340248Y → F in allele DQA1*02:01, allele DQA1*01:03, allele DQA1*06:01 and allele DQA1*06:02. Corresponds to variant rs12722051dbSNPEnsembl.1
Natural variantiVAR_03340349T → S in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant rs3188011dbSNPEnsembl.1
Natural variantiVAR_01460457Q → 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 rs10093dbSNPEnsembl.1
Natural variantiVAR_06049663G → 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 rs1142323dbSNPEnsembl.1
Natural variantiVAR_05038364R → K in allele DQA1*01:03. Corresponds to variant rs36219699dbSNPEnsembl.1
Natural variantiVAR_06049767T → A in allele DQA1*01:06. Corresponds to variant rs41543221dbSNPEnsembl.1
Natural variantiVAR_06049868V → 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 rs1142324dbSNPEnsembl.1
Natural variantiVAR_06049970C → K in allele DQA1*02:01; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06050070C → Q in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06050170C → 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 rs1142326dbSNPEnsembl.1
Natural variantiVAR_03340470C → Y.Corresponds to variant rs3207983dbSNPEnsembl.1
Natural variantiVAR_06050271L → 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 rs1142328dbSNPEnsembl.1
Natural variantiVAR_03340673V → D.Corresponds to variant rs760671632dbSNPEnsembl.1
Natural variantiVAR_06050373V → 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 rs3208105dbSNPEnsembl.1
Natural variantiVAR_03340573V → L in allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant rs12722061dbSNPEnsembl.1
Natural variantiVAR_06050474L → 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 rs9272698dbSNPEnsembl.1
Natural variantiVAR_06050575R → H in allele DQA1*02:01. 1
Natural variantiVAR_06050675R → 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 rs9272699dbSNPEnsembl.1
Natural variantiVAR_06050776Q → 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 rs1048052dbSNPEnsembl.1
Natural variantiVAR_06050876Q → R in allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant rs12722069dbSNPEnsembl.1
Natural variantiVAR_06050977F → L in allele DQA1*02:01. Corresponds to variant rs3188043dbSNPEnsembl.1
Natural variantiVAR_06051078R → 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 rs4193dbSNPEnsembl.1
Natural variantiVAR_06051178R → RR in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. 1
Natural variantiVAR_03340778R → S.Corresponds to variant rs36219345dbSNPEnsembl.1
Natural variantiVAR_06051281P → R in allele DQA1*05:02. Corresponds to variant rs41541412dbSNPEnsembl.1
Natural variantiVAR_06051383F → 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. 1
Natural variantiVAR_03340886T → 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 rs1048073dbSNPEnsembl.1
Natural variantiVAR_03340988I → 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 rs1048080dbSNPEnsembl.1
Natural variantiVAR_06051491L → 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. 1
Natural variantiVAR_06051591L → 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. 1
Natural variantiVAR_03341091L → V.Corresponds to variant rs1048085dbSNPEnsembl.1
Natural variantiVAR_06051697S → 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. Corresponds to variant rs9279910dbSNPEnsembl.1
Natural variantiVAR_06051798L → 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 rs1064944dbSNPEnsembl.1
Natural variantiVAR_06051898L → V in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant rs1064944dbSNPEnsembl.1
Natural variantiVAR_060519101R → C in allele DQA1*01:07. Corresponds to variant rs41542116dbSNPEnsembl.1
Natural variantiVAR_050384102S → 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 rs1129808dbSNPEnsembl.1
Natural variantiVAR_060520124L → V in allele DQA1*05:06. Corresponds to variant rs41555012dbSNPEnsembl.1
Natural variantiVAR_050385129I → 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 rs707952dbSNPEnsembl.1
Natural variantiVAR_050386151H → 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 rs707950dbSNPEnsembl.1
Natural variantiVAR_060521152S → A in allele DQA1*01:03. Corresponds to variant rs41547417dbSNPEnsembl.1
Natural variantiVAR_060522160T → I in allele DQA1*04:02. Corresponds to variant rs41545514dbSNPEnsembl.1
Natural variantiVAR_060524161S → I in allele DQA1*05:08. Corresponds to variant rs41544114dbSNPEnsembl.1
Natural variantiVAR_060523161S → R in allele DQA1*06:02. Corresponds to variant rs41552014dbSNPEnsembl.1
Natural variantiVAR_060525175Y → H in allele DQA1*04:04. Corresponds to variant rs41550317dbSNPEnsembl.1
Natural variantiVAR_060526178L → 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 rs707949dbSNPEnsembl.1
Natural variantiVAR_060527182A → D in allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant rs7990dbSNPEnsembl.1
Natural variantiVAR_060528182A → S in allele DQA1*05:03, allele DQA1*05:06 and allele DQA1*05:07. Corresponds to variant rs41561312dbSNPEnsembl.1
Natural variantiVAR_060529183E → 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 rs707963dbSNPEnsembl.1
Natural variantiVAR_060530185S → 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. Corresponds to variant rs707962dbSNPEnsembl.1
Natural variantiVAR_060531197K → 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. Corresponds to variant rs2308891dbSNPEnsembl.1
Natural variantiVAR_060532197K → 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. Corresponds to variant rs2308891dbSNPEnsembl.1
Natural variantiVAR_050387209A → T in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant rs9272785dbSNPEnsembl.1
Natural variantiVAR_050388221A → T in allele DQA1*01:04. Corresponds to variant rs35087390dbSNPEnsembl.1
Natural variantiVAR_033411229V → M in allele DQA1*01:02. Corresponds to variant rs9260dbSNPEnsembl.1
Natural variantiVAR_060533230G → C in allele DQA1*05:07. Corresponds to variant rs41545416dbSNPEnsembl.1
Natural variantiVAR_033412237F → L in allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant rs1048430dbSNPEnsembl.1
Natural variantiVAR_033413240R → 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 rs9272793dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
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.
GeneIDi3117.
KEGGihsa:3117.
UCSCiuc003obr.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.
UniGeneiHs.387679.
Hs.591798.
Hs.706240.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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[»]
5KSAX-ray2.00A24-206[»]
5KSBX-ray2.90A/C24-206[»]
ProteinModelPortaliP01909.
SMRiP01909.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109362. 30 interactors.
IntActiP01909. 11 interactors.

Polymorphism and mutation databases

BioMutaiHLA-DQA1.
DMDMi122188.

Proteomic databases

PeptideAtlasiP01909.
PRIDEiP01909.

Protocols and materials databases

DNASUi3117.
Structural Biology KnowledgebaseSearch...

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.
GeneIDi3117.
KEGGihsa:3117.
UCSCiuc003obr.4. human.

Organism-specific databases

CTDi3117.
DisGeNETi3117.
GeneCardsiHLA-DQA1.
GeneReviewsiHLA-DQA1.
HGNCiHGNC:4942. HLA-DQA1.
HPAiHPA012315.
MalaCardsiHLA-DQA1.
MIMi146880. gene.
neXtProtiNX_P01909.
OpenTargetsiENSG00000206305.
ENSG00000257473.
Orphaneti555. Celiac disease.
243377. Diabetes mellitus type 1.
930. Idiopathic achalasia.
PharmGKBiPA35066.
GenAtlasiSearch...

Phylogenomic databases

HOVERGENiHBG006862.
InParanoidiP01909.
KOiK06752.
OMAiKETVWCL.
OrthoDBiEOG091G0IC9.
PhylomeDBiP01909.
TreeFamiTF333797.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112637-MONOMER.
ReactomeiR-HSA-202424. Downstream TCR signaling.
R-HSA-202427. Phosphorylation of CD3 and TCR zeta chains.
R-HSA-202430. Translocation of ZAP-70 to Immunological synapse.
R-HSA-202433. Generation of second messenger molecules.
R-HSA-2132295. MHC class II antigen presentation.
R-HSA-389948. PD-1 signaling.
R-HSA-877300. Interferon gamma signaling.

Miscellaneous databases

ChiTaRSiHLA-DQA1. human.
EvolutionaryTraceiP01909.
GenomeRNAii3117.
PROiP01909.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196735.
CleanExiHS_HLA-DQA1.
ExpressionAtlasiP01909. baseline and differential.
GenevisibleiP01909. HS.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
3.10.320.10. 1 hit.
InterProiIPR032431. C1-set_C.
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]
PfamiPF07654. C1-set. 1 hit.
PF16196. C1-set_C. 1 hit.
PF00993. MHC_II_alpha. 1 hit.
[Graphical view]
SMARTiSM00407. IGc1. 1 hit.
SM00920. MHC_II_alpha. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF54452. SSF54452. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 30, 2016
This is version 165 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.