UniProtKB - P01909 (DQA1_HUMAN)
HLA class II histocompatibility antigen, DQ alpha 1 chain
HLA-DQA1
Functioni
GO - Molecular functioni
- MHC class II receptor activity Source: UniProtKB
- peptide antigen binding Source: UniProtKB
GO - Biological processi
- adaptive immune response Source: UniProtKB-KW
- antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
- immune response Source: UniProtKB
- interferon-gamma-mediated signaling pathway Source: Reactome
- T cell receptor signaling pathway Source: Reactome
Keywordsi
Biological process | Adaptive immunity, Immunity |
Enzyme and pathway databases
PathwayCommonsi | P01909 |
Reactomei | R-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 |
SIGNORi | P01909 |
Protein family/group databases
TCDBi | 9.A.75.1.1, the mhc ii receptor (mhc2r) family |
Names & Taxonomyi
Protein namesi | Recommended name: HLA class II histocompatibility antigen, DQ alpha 1 chainAlternative name(s): DC-1 alpha chain DC-alpha HLA-DCA MHC class II DQA1 |
Gene namesi | Name:HLA-DQA1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000196735.11 |
HGNCi | HGNC:4942, HLA-DQA1 |
MIMi | 146880, gene |
neXtProti | NX_P01909 |
Subcellular locationi
Endosome
Lysosome
Plasma membrane
Golgi apparatus
Endoplasmic reticulum
Note: The MHC class II complex transits through a number of intracellular compartments in the endocytic pathway until it reaches the cell membrane for antigen presentation.
Endoplasmic reticulum
- integral component of lumenal side of endoplasmic reticulum membrane Source: Reactome
Endosome
- endosome membrane Source: UniProtKB-SubCell
Golgi apparatus
- Golgi membrane Source: Reactome
- trans-Golgi network membrane Source: Reactome
Lysosome
- lysosomal membrane Source: Reactome
Plasma Membrane
- integral component of plasma membrane Source: UniProtKB
- MHC class II protein complex Source: UniProtKB
- plasma membrane Source: Reactome
Other locations
- clathrin-coated endocytic vesicle membrane Source: Reactome
- endocytic vesicle membrane Source: Reactome
- ER to Golgi transport vesicle membrane Source: Reactome
- membrane Source: UniProtKB
- transport vesicle membrane Source: Reactome
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 24 – 216 | ExtracellularSequence analysisAdd BLAST | 193 | |
Transmembranei | 217 – 239 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 240 – 254 | CytoplasmicAdd BLAST | 15 |
Keywords - Cellular componenti
Cell membrane, Endoplasmic reticulum, Endosome, Golgi apparatus, Lysosome, Membrane, MHC IIPathology & Biotechi
Organism-specific databases
DisGeNETi | 3117 |
GeneReviewsi | HLA-DQA1 |
MalaCardsi | HLA-DQA1 |
NIAGADSi | ENSG00000196735 |
Orphaneti | 391490, Adult-onset myasthenia gravis 930, Idiopathic achalasia 555, NON RARE IN EUROPE: Celiac disease 243377, NON RARE IN EUROPE: Diabetes mellitus type 1 |
PharmGKBi | PA35066 |
Miscellaneous databases
Pharosi | P01909, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4105884 |
Polymorphism and mutation databases
BioMutai | HLA-DQA1 |
DMDMi | 122188 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 23 | 1 PublicationAdd BLAST | 23 | |
ChainiPRO_0000018970 | 24 – 254 | HLA class II histocompatibility antigen, DQ alpha 1 chainAdd BLAST | 231 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 103 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 132 ↔ 188 | PROSITE-ProRule annotation3 Publications | ||
Glycosylationi | 143 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | P01909 |
MassIVEi | P01909 |
PeptideAtlasi | P01909 |
PRIDEi | P01909 |
ProteomicsDBi | 51510 |
PTM databases
GlyConnecti | 1986, 2 N-Linked glycans (1 site) |
GlyGeni | P01909, 4 sites |
Expressioni
Gene expression databases
Bgeei | ENSG00000196735, Expressed in lung and 208 other tissues |
ExpressionAtlasi | P01909, baseline and differential |
Genevisiblei | P01909, HS |
Organism-specific databases
HPAi | ENSG00000196735, Tissue enhanced (blood, lymphoid tissue) |
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 PublicationsBinary interactionsi
P01909
With | #Exp. | IntAct |
---|---|---|
HLA-DQB1 [P01920] | 8 | EBI-713389,EBI-1038012 |
Protein-protein interaction databases
BioGRIDi | 109362, 35 interactors 1529240, 1 interactor |
IntActi | P01909, 12 interactors |
MINTi | P01909 |
Miscellaneous databases
RNActi | P01909, protein |
Structurei
Secondary structure
3D structure databases
SMRi | P01909 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P01909 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 112 – 204 | Ig-like C1-typeAdd BLAST | 93 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 24 – 119 | Alpha-1Add BLAST | 96 | |
Regioni | 120 – 203 | Alpha-2Add BLAST | 84 | |
Regioni | 204 – 216 | Connecting peptideAdd BLAST | 13 |
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
HOGENOMi | CLU_069380_0_0_1 |
InParanoidi | P01909 |
OrthoDBi | 1132781at2759 |
PhylomeDBi | P01909 |
TreeFami | TF333797 |
Family and domain databases
Gene3Di | 2.60.40.10, 1 hit 3.10.320.10, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF07654, C1-set, 1 hit PF00993, MHC_II_alpha, 1 hit |
SMARTi | View protein in SMART SM00407, IGc1, 1 hit SM00920, MHC_II_alpha, 1 hit |
SUPFAMi | SSF48726, SSF48726, 1 hit SSF54452, SSF54452, 1 hit |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 1 hit PS00290, IG_MHC, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 11 potential isoforms that are computationally mapped.Show allAlign All
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
Computationally mapped potential isoform sequencesi
There are 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PMV2 | E9PMV2_HUMAN | HLA class II histocompatibility ant... | HLA-DQA1 | 214 | Annotation score: | ||
Q08AS3 | Q08AS3_HUMAN | HLA class II histocompatibility ant... | HLA-DQA1 | 254 | Annotation score: | ||
Q5Y7H0 | Q5Y7H0_HUMAN | HLA class II histocompatibility ant... | HLA-DQA1 | 255 | Annotation score: | ||
A0A1W2PP70 | A0A1W2PP70_HUMAN | HLA class II histocompatibility ant... | HLA-DQA1 | 190 | Annotation score: | ||
E9PI37 | E9PI37_HUMAN | HLA class II histocompatibility ant... | HLA-DQA1 | 53 | Annotation score: | ||
A0A0G2JKJ3 | A0A0G2JKJ3_HUMAN | HLA class II histocompatibility ant... | HLA-DQA1 | 115 | Annotation score: | ||
A0A140TA20 | A0A140TA20_HUMAN | HLA class II histocompatibility ant... | HLA-DQA1 | 41 | Annotation score: | ||
F6UB03 | F6UB03_HUMAN | HLA class II histocompatibility ant... | HLA-DQA1 | 24 | Annotation score: | ||
A0A182DWF8 | A0A182DWF8_HUMAN | HLA class II histocompatibility ant... | HLA-DQA1 | 24 | Annotation score: | ||
A0A182DWH0 | A0A182DWH0_HUMAN | HLA class II histocompatibility ant... | HLA-DQA1 | 24 | Annotation score: | ||
There is more potential isoformShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 11 | A → S in AAA59760 (PubMed:3584986).Curated | 1 | |
Sequence conflicti | 23 – 27 | Missing in AAA59754 (PubMed:3879967).Curated | 5 | |
Sequence conflicti | 91 | L → H in AAA59760 (PubMed:3584986).Curated | 1 | |
Sequence conflicti | 107 | A → P in AAA59754 (PubMed:3879967).Curated | 1 | |
Sequence conflicti | 156 | G → D in CAA25141 (PubMed:6584734).Curated | 1 | |
Sequence conflicti | 213 | E → D in AAA59754 (PubMed:3879967).Curated | 1 |
Polymorphismi
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_033399 | 8 | M → 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_033400 | 11 | A → T in allele DQA1*05:05, allele DQA1*05:08 and allele DQA1*05:09. Corresponds to variant dbSNP:rs1047992Ensembl. | 1 | |
Natural variantiVAR_050380 | 17 | V → M in allele DQA1*01:04 and allele DQA1*01:05. Corresponds to variant dbSNP:rs12722039Ensembl. | 1 | |
Natural variantiVAR_050381 | 18 | M → T in allele DQA1*03:03. Corresponds to variant dbSNP:rs11545686Ensembl. | 1 | |
Natural variantiVAR_060493 | 24 | E → K in allele DQA1*05:09. Corresponds to variant dbSNP:rs41545012Ensembl. | 1 | |
Natural variantiVAR_050382 | 25 | D → G in allele DQA1*01:04 and allele DQA1*01:05. Corresponds to variant dbSNP:rs12722042Ensembl. | 1 | |
Natural variantiVAR_060494 | 34 | Y → 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_033401 | 41 | S → 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_060495 | 44 | P → L in allele DQA1*05:04. Corresponds to variant dbSNP:rs41549715Ensembl. | 1 | |
Natural variantiVAR_033402 | 48 | Y → 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_033403 | 49 | T → S in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant dbSNP:rs1048023Ensembl. | 1 | |
Natural variantiVAR_014604 | 57 | Q → 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_060496 | 63 | G → 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_050383 | 64 | R → K in allele DQA1*01:03. Corresponds to variant dbSNP:rs36219699Ensembl. | 1 | |
Natural variantiVAR_060497 | 67 | T → A in allele DQA1*01:06. Corresponds to variant dbSNP:rs41543221Ensembl. | 1 | |
Natural variantiVAR_060498 | 68 | V → 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_060499 | 70 | C → K in allele DQA1*02:01; requires 2 nucleotide substitutions. | 1 | |
Natural variantiVAR_060500 | 70 | C → Q in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03; requires 2 nucleotide substitutions. | 1 | |
Natural variantiVAR_060501 | 70 | C → 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_033404 | 70 | C → Y. Corresponds to variant dbSNP:rs3207983Ensembl. | 1 | |
Natural variantiVAR_060502 | 71 | L → 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_033406 | 73 | V → D. Corresponds to variant dbSNP:rs760671632Ensembl. | 1 | |
Natural variantiVAR_060503 | 73 | V → 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_033405 | 73 | V → 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_060504 | 74 | L → 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_060505 | 75 | R → H in allele DQA1*02:01. Corresponds to variant dbSNP:rs28383449Ensembl. | 1 | |
Natural variantiVAR_060506 | 75 | R → 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_060507 | 76 | Q → 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_060508 | 76 | Q → 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_060509 | 77 | F → L in allele DQA1*02:01. Corresponds to variant dbSNP:rs3188043Ensembl. | 1 | |
Natural variantiVAR_060510 | 78 | R → 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_060511 | 78 | R → RR in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. | 1 | |
Natural variantiVAR_060512 | 81 | P → R in allele DQA1*05:02. Corresponds to variant dbSNP:rs41541412Ensembl. | 1 | |
Natural variantiVAR_060513 | 83 | F → 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_033408 | 86 | T → 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_033409 | 88 | I → 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_060514 | 91 | L → 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_060515 | 91 | L → 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_060516 | 97 | S → 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_060517 | 98 | L → 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_060518 | 98 | L → V in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant dbSNP:rs1064944Ensembl. | 1 | |
Natural variantiVAR_060519 | 101 | R → C in allele DQA1*01:07. Corresponds to variant dbSNP:rs41542116Ensembl. | 1 | |
Natural variantiVAR_050384 | 102 | S → 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_060520 | 124 | L → V in allele DQA1*05:06. Corresponds to variant dbSNP:rs41555012Ensembl. | 1 | |
Natural variantiVAR_050385 | 129 | I → 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_050386 | 151 | H → 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_060521 | 152 | S → A in allele DQA1*01:03. Corresponds to variant dbSNP:rs41547417Ensembl. | 1 | |
Natural variantiVAR_060522 | 160 | T → I in allele DQA1*04:02. Corresponds to variant dbSNP:rs41545514Ensembl. | 1 | |
Natural variantiVAR_060524 | 161 | S → I in allele DQA1*05:08. Corresponds to variant dbSNP:rs41544114Ensembl. | 1 | |
Natural variantiVAR_060523 | 161 | S → R in allele DQA1*06:02. Corresponds to variant dbSNP:rs41552014Ensembl. | 1 | |
Natural variantiVAR_060525 | 175 | Y → H in allele DQA1*04:04. Corresponds to variant dbSNP:rs41550317Ensembl. | 1 | |
Natural variantiVAR_060526 | 178 | L → 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_060527 | 182 | A → D in allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant dbSNP:rs7990Ensembl. | 1 | |
Natural variantiVAR_060528 | 182 | A → S in allele DQA1*05:03, allele DQA1*05:06 and allele DQA1*05:07. Corresponds to variant dbSNP:rs41561312Ensembl. | 1 | |
Natural variantiVAR_060529 | 183 | E → 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_060530 | 185 | S → 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_060531 | 197 | K → 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_060532 | 197 | K → 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_050387 | 209 | A → T in allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03. Corresponds to variant dbSNP:rs9272785Ensembl. | 1 | |
Natural variantiVAR_050388 | 221 | A → T in allele DQA1*01:04. Corresponds to variant dbSNP:rs35087390Ensembl. | 1 | |
Natural variantiVAR_033411 | 229 | V → M in allele DQA1*01:02. Corresponds to variant dbSNP:rs9260Ensembl. | 1 | |
Natural variantiVAR_060533 | 230 | G → C in allele DQA1*05:07. Corresponds to variant dbSNP:rs41545416Ensembl. | 1 | |
Natural variantiVAR_033412 | 237 | F → 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_033413 | 240 | R → 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 |
PIRi | A02211, HLHUD1 A02213, HLHUDQ A02214, HLHUD7 A02215, HLHU3C A93326, HLHUDC B27628 D34512 |
RefSeqi | NP_002113.2, NM_002122.3 |
Genome annotation databases
Keywords - Coding sequence diversityi
PolymorphismSimilar 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 |
PIRi | A02211, HLHUD1 A02213, HLHUDQ A02214, HLHUD7 A02215, HLHU3C A93326, HLHUDC B27628 D34512 |
RefSeqi | NP_002113.2, NM_002122.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB 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 | [»] | |
5KSA | X-ray | 2.00 | A | 24-206 | [»] | |
5KSB | X-ray | 2.90 | A/C | 24-206 | [»] | |
5KSU | X-ray | 2.73 | A/D | 24-216 | [»] | |
5KSV | X-ray | 2.19 | A | 24-216 | [»] | |
6MFF | X-ray | 2.60 | A | 24-206 | [»] | |
6MFG | X-ray | 2.00 | A/C | 24-206 | [»] | |
6U3M | X-ray | 1.90 | A/C | 24-206 | [»] | |
6U3N | X-ray | 2.80 | A | 24-206 | [»] | |
SMRi | P01909 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109362, 35 interactors 1529240, 1 interactor |
IntActi | P01909, 12 interactors |
MINTi | P01909 |
Chemistry databases
ChEMBLi | CHEMBL4105884 |
Protein family/group databases
TCDBi | 9.A.75.1.1, the mhc ii receptor (mhc2r) family |
PTM databases
GlyConnecti | 1986, 2 N-Linked glycans (1 site) |
GlyGeni | P01909, 4 sites |
Polymorphism and mutation databases
BioMutai | HLA-DQA1 |
DMDMi | 122188 |
Proteomic databases
jPOSTi | P01909 |
MassIVEi | P01909 |
PeptideAtlasi | P01909 |
PRIDEi | P01909 |
ProteomicsDBi | 51510 |
Protocols and materials databases
Antibodypediai | 2728, 684 antibodies |
DNASUi | 3117 |
Genome annotation databases
Organism-specific databases
CTDi | 3117 |
DisGeNETi | 3117 |
EuPathDBi | HostDB:ENSG00000196735.11 |
GeneCardsi | HLA-DQA1 |
GeneReviewsi | HLA-DQA1 |
HGNCi | HGNC:4942, HLA-DQA1 |
HPAi | ENSG00000196735, Tissue enhanced (blood, lymphoid tissue) |
MalaCardsi | HLA-DQA1 |
MIMi | 146880, gene |
neXtProti | NX_P01909 |
NIAGADSi | ENSG00000196735 |
Orphaneti | 391490, Adult-onset myasthenia gravis 930, Idiopathic achalasia 555, NON RARE IN EUROPE: Celiac disease 243377, NON RARE IN EUROPE: Diabetes mellitus type 1 |
PharmGKBi | PA35066 |
GenAtlasi | Search... |
Phylogenomic databases
HOGENOMi | CLU_069380_0_0_1 |
InParanoidi | P01909 |
OrthoDBi | 1132781at2759 |
PhylomeDBi | P01909 |
TreeFami | TF333797 |
Enzyme and pathway databases
PathwayCommonsi | P01909 |
Reactomei | R-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 |
SIGNORi | P01909 |
Miscellaneous databases
BioGRID-ORCSi | 3117, 3 hits in 825 CRISPR screens |
ChiTaRSi | HLA-DQA1, human |
EvolutionaryTracei | P01909 |
GenomeRNAii | 3117 |
Pharosi | P01909, Tbio |
PROi | PR:P01909 |
RNActi | P01909, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000196735, Expressed in lung and 208 other tissues |
ExpressionAtlasi | P01909, baseline and differential |
Genevisiblei | P01909, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 1 hit 3.10.320.10, 1 hit |
InterProi | View 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 |
Pfami | View protein in Pfam PF07654, C1-set, 1 hit PF00993, MHC_II_alpha, 1 hit |
SMARTi | View protein in SMART SM00407, IGc1, 1 hit SM00920, MHC_II_alpha, 1 hit |
SUPFAMi | SSF48726, SSF48726, 1 hit SSF54452, SSF54452, 1 hit |
PROSITEi | View protein in PROSITE PS50835, IG_LIKE, 1 hit PS00290, IG_MHC, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DQA1_HUMAN | |
Accessioni | P01909Primary (citable) accession number: P01909 Secondary accession number(s): O19630 Q9UM31 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 21, 1986 |
Last sequence update: | July 21, 1986 | |
Last modified: | December 2, 2020 | |
This is version 194 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations