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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: -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

Keywordsi

Biological processImmunity

Enzyme and pathway databases

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
SIGNORiP01909

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

EuPathDBiHostDB:ENSG00000196735.11
HGNCiHGNC:4942 HLA-DQA1
MIMi146880 gene
neXtProtiNX_P01909

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi3117
GeneReviewsiHLA-DQA1
MalaCardsiHLA-DQA1
Orphaneti391490 Adult-onset myasthenia gravis
930 Idiopathic achalasia
555 NON RARE IN EUROPE: Celiac disease
243377 NON RARE IN EUROPE: Diabetes mellitus type 1
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...) asparagineSequence analysis1
Disulfide bondi132 ↔ 188PROSITE-ProRule annotation3 Publications
Glycosylationi143N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PeptideAtlasiP01909
PRIDEiP01909
ProteomicsDBi51510

Expressioni

Gene expression databases

BgeeiENSG00000196735 Expressed in 186 organ(s), highest expression level in leukocyte
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, 34 interactors
1529240, 1 interactor
IntActiP01909, 12 interactors
MINTiP01909

Structurei

Secondary structure

1254
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
OrthoDBiEOG091G0IC9
PhylomeDBiP01909
TreeFamiTF333797

Family and domain databases

Gene3Di2.60.40.10, 1 hit
3.10.320.10, 1 hit
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
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
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
PF00993 MHC_II_alpha, 1 hit
SMARTiView protein in SMART
SM00407 IGc1, 1 hit
SM00920 MHC_II_alpha, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
SSF54452 SSF54452, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS00290 IG_MHC, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 11 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PMV2E9PMV2_HUMAN
HLA class II histocompatibility ant...
HLA-DQA1
214Annotation score:
Q5Y7H0Q5Y7H0_HUMAN
HLA class II histocompatibility ant...
HLA-DQA1
255Annotation score:
Q08AS3Q08AS3_HUMAN
HLA class II histocompatibility ant...
HLA-DQA1
254Annotation score:
A0A1W2PP70A0A1W2PP70_HUMAN
HLA class II histocompatibility ant...
HLA-DQA1
190Annotation score:
E9PI37E9PI37_HUMAN
HLA class II histocompatibility ant...
HLA-DQA1
53Annotation score:
A0A0G2JKJ3A0A0G2JKJ3_HUMAN
HLA class II histocompatibility ant...
HLA-DQA1
115Annotation score:
A0A140TA20A0A140TA20_HUMAN
HLA class II histocompatibility ant...
HLA-DQA1
41Annotation score:
F6UB03F6UB03_HUMAN
HLA class II histocompatibility ant...
HLA-DQA1
24Annotation score:
A0A182DWF8A0A182DWF8_HUMAN
HLA class II histocompatibility ant...
HLA-DQA1
24Annotation score:
A0A182DWH0A0A182DWH0_HUMAN
HLA class II histocompatibility ant...
HLA-DQA1
24Annotation score:
There is more potential isoformShow all

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 dbSNP:rs1047989Ensembl.1
Natural variantiVAR_03340011A → T in allele DQA1*05:05, allele DQA1*05:08 and allele DQA1*05:09. Corresponds to variant dbSNP:rs1047992Ensembl.1
Natural variantiVAR_05038017V → M in allele DQA1*01:04 and allele DQA1*01:05. Corresponds to variant dbSNP:rs12722039Ensembl.1
Natural variantiVAR_05038118M → T in allele DQA1*03:03. Corresponds to variant dbSNP:rs11545686Ensembl.1
Natural variantiVAR_06049324E → K in allele DQA1*05:09. Corresponds to variant dbSNP:rs41545012Ensembl.1
Natural variantiVAR_05038225D → G in allele DQA1*01:04 and allele DQA1*01:05. Corresponds to variant dbSNP:rs12722042Ensembl.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 dbSNP:rs1129740Ensembl.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 dbSNP:rs1071630Ensembl.1
Natural variantiVAR_06049544P → L in allele DQA1*05:04. Corresponds to variant dbSNP:rs41549715Ensembl.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 dbSNP:rs12722051Ensembl.1
Natural variantiVAR_03340349T → S in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant dbSNP:rs1048023Ensembl.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 dbSNP:rs10093Ensembl.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 dbSNP:rs1142323Ensembl.1
Natural variantiVAR_05038364R → K in allele DQA1*01:03. Corresponds to variant dbSNP:rs36219699Ensembl.1
Natural variantiVAR_06049767T → A in allele DQA1*01:06. Corresponds to variant dbSNP:rs41543221Ensembl.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 dbSNP:rs1142324Ensembl.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 dbSNP:rs1142326Ensembl.1
Natural variantiVAR_03340470C → Y. Corresponds to variant dbSNP:rs3207983Ensembl.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 dbSNP:rs1142328Ensembl.1
Natural variantiVAR_03340673V → D. Corresponds to variant dbSNP:rs760671632Ensembl.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 dbSNP:rs3208105Ensembl.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 dbSNP:rs12722061Ensembl.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 dbSNP:rs9272698Ensembl.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 dbSNP:rs9272699Ensembl.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 dbSNP:rs1048052Ensembl.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 dbSNP:rs12722069Ensembl.1
Natural variantiVAR_06050977F → L in allele DQA1*02:01. Corresponds to variant dbSNP:rs3188043Ensembl.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 dbSNP:rs4193Ensembl.1
Natural variantiVAR_06051178R → RR in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. 1
Natural variantiVAR_06051281P → R in allele DQA1*05:02. Corresponds to variant dbSNP:rs41541412Ensembl.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 dbSNP:rs1142333Ensembl.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 dbSNP:rs1142334Ensembl.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_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 dbSNP:rs9279910Ensembl.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 dbSNP:rs1064944Ensembl.1
Natural variantiVAR_06051898L → V in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant dbSNP:rs1064944Ensembl.1
Natural variantiVAR_060519101R → C in allele DQA1*01:07. Corresponds to variant dbSNP:rs41542116Ensembl.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 dbSNP:rs1129808Ensembl.1
Natural variantiVAR_060520124L → V in allele DQA1*05:06. Corresponds to variant dbSNP:rs41555012Ensembl.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 dbSNP:rs707952Ensembl.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 dbSNP:rs707950Ensembl.1
Natural variantiVAR_060521152S → A in allele DQA1*01:03. Corresponds to variant dbSNP:rs41547417Ensembl.1
Natural variantiVAR_060522160T → I in allele DQA1*04:02. Corresponds to variant dbSNP:rs41545514Ensembl.1
Natural variantiVAR_060524161S → I in allele DQA1*05:08. Corresponds to variant dbSNP:rs41544114Ensembl.1
Natural variantiVAR_060523161S → R in allele DQA1*06:02. Corresponds to variant dbSNP:rs41552014Ensembl.1
Natural variantiVAR_060525175Y → H in allele DQA1*04:04. Corresponds to variant dbSNP:rs41550317Ensembl.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 dbSNP:rs707949Ensembl.1
Natural variantiVAR_060527182A → D in allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant dbSNP:rs7990Ensembl.1
Natural variantiVAR_060528182A → S in allele DQA1*05:03, allele DQA1*05:06 and allele DQA1*05:07. Corresponds to variant dbSNP:rs41561312Ensembl.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 dbSNP:rs707963Ensembl.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 dbSNP:rs707962Ensembl.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 dbSNP:rs2308891Ensembl.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 dbSNP:rs2308891Ensembl.1
Natural variantiVAR_050387209A → T in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant dbSNP:rs9272785Ensembl.1
Natural variantiVAR_050388221A → T in allele DQA1*01:04. Corresponds to variant dbSNP:rs35087390Ensembl.1
Natural variantiVAR_033411229V → M in allele DQA1*01:02. Corresponds to variant dbSNP:rs9260Ensembl.1
Natural variantiVAR_060533230G → C in allele DQA1*05:07. Corresponds to variant dbSNP:rs41545416Ensembl.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 dbSNP:rs1048430Ensembl.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 dbSNP:rs1048439Ensembl.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 No translation available.
AL662789 Genomic DNA No translation available.
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

Similar proteinsi

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 No translation available.
AL662789 Genomic DNA No translation available.
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[»]
5KSUX-ray2.73A/D24-216[»]
5KSVX-ray2.19A24-216[»]
ProteinModelPortaliP01909
SMRiP01909
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109362, 34 interactors
1529240, 1 interactor
IntActiP01909, 12 interactors
MINTiP01909

Polymorphism and mutation databases

BioMutaiHLA-DQA1
DMDMi122188

Proteomic databases

PeptideAtlasiP01909
PRIDEiP01909
ProteomicsDBi51510

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
EuPathDBiHostDB:ENSG00000196735.11
GeneCardsiHLA-DQA1
GeneReviewsiHLA-DQA1
HGNCiHGNC:4942 HLA-DQA1
HPAiHPA012315
MalaCardsiHLA-DQA1
MIMi146880 gene
neXtProtiNX_P01909
Orphaneti391490 Adult-onset myasthenia gravis
930 Idiopathic achalasia
555 NON RARE IN EUROPE: Celiac disease
243377 NON RARE IN EUROPE: Diabetes mellitus type 1
PharmGKBiPA35066
GenAtlasiSearch...

Phylogenomic databases

HOVERGENiHBG006862
InParanoidiP01909
KOiK06752
OrthoDBiEOG091G0IC9
PhylomeDBiP01909
TreeFamiTF333797

Enzyme and pathway databases

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
SIGNORiP01909

Miscellaneous databases

ChiTaRSiHLA-DQA1 human
EvolutionaryTraceiP01909
GenomeRNAii3117
PROiPR:P01909
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196735 Expressed in 186 organ(s), highest expression level in leukocyte
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
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
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
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
PF00993 MHC_II_alpha, 1 hit
SMARTiView protein in SMART
SM00407 IGc1, 1 hit
SM00920 MHC_II_alpha, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
SSF54452 SSF54452, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS00290 IG_MHC, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: November 7, 2018
This is version 181 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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