Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

HLA class II histocompatibility antigen, DRB1-14 beta chain

Gene

HLA-DRB1

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 - 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

Names & Taxonomyi

Protein namesi
Recommended name:
HLA class II histocompatibility antigen, DRB1-14 beta chain
Alternative name(s):
MHC class II antigen DRB1*14
Short name:
DR-14
Short name:
DR14
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000196126.10
HGNCiHGNC:4948 HLA-DRB1
MIMi142857 gene
neXtProtiNX_Q9GIY3

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
Transmembranei228 – 248HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi3123
MalaCardsiHLA-DRB1

Chemistry databases

ChEMBLiCHEMBL3988561

Polymorphism and mutation databases

DMDMi74761361

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Sequence analysisAdd BLAST29
ChainiPRO_500006667630 – 266HLA class II histocompatibility antigen, DRB1-14 beta chainAdd BLAST237

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi48N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi146 ↔ 202PROSITE-ProRule annotation
Cross-linki254Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity

Post-translational modificationi

Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to sorting into the endosome system and down-regulation of MHC class II.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ9GIY3
PeptideAtlasiQ9GIY3
PRIDEiQ9GIY3

PTM databases

GlyConnecti1372
SwissPalmiQ9GIY3

Expressioni

Gene expression databases

BgeeiENSG00000196126 Expressed in 94 organ(s), highest expression level in spleen
ExpressionAtlasiQ9GIY3 baseline and differential
GenevisibleiQ9GIY3 HS

Organism-specific databases

HPAiCAB015400
CAB034021

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.

Protein-protein interaction databases

IntActiQ9GIY3, 1 interactor

Structurei

3D structure databases

ProteinModelPortaliQ9GIY3
SMRiQ9GIY3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini126 – 214Ig-like C1-typeAdd BLAST89

Sequence similaritiesi

Belongs to the MHC class II family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

HOVERGENiHBG012730

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
IPR000353 MHC_II_b_N
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
PF00969 MHC_II_beta, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD000328 MHC_II_b_N, 1 hit
SMARTiView protein in SMART
SM00407 IGc1, 1 hit
SM00921 MHC_II_beta, 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 13 potential isoforms that are computationally mapped.Show allAlign All

Q9GIY3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVCLRLPGGS CMAVLTVTLM VLSSPLALAG DTRPRFLEYS TSECHFFNGT
60 70 80 90 100
ERVRFLDRYF HNQEEFVRFD SDVGEYRAVT ELGRPAAEHW NSQKDLLERR
110 120 130 140 150
RAEVDTYCRH NYGVVESFTV QRRVHPKVTV YPSKTQPLQH YNLLVCSVSG
160 170 180 190 200
FYPGSIEVRW FRNGQEEKTG VVSTGLIHNG DWTFQTLVML ETVPRSGEVY
210 220 230 240 250
TCQVEHPSVT SPLTVEWRAR SESAQSKMLS GVGGFVLGLL FLGAGLFIYF
260
RNQKGHSGLQ PRGFLS
Length:266
Mass (Da):30,139
Last modified:March 1, 2001 - v1
Checksum:iFA4BE90DFAB4FA55
GO

Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
P137602B14_HUMAN
HLA class II histocompatibility ant...
HLA-DRB1
266Annotation score:
P042292B11_HUMAN
HLA class II histocompatibility ant...
HLA-DRB1
266Annotation score:
P137612B17_HUMAN
HLA class II histocompatibility ant...
HLA-DRB1
266Annotation score:
Q5Y7A72B1D_HUMAN
HLA class II histocompatibility ant...
HLA-DRB1
266Annotation score:
P019112B1F_HUMAN
HLA class II histocompatibility ant...
HLA-DRB1 HLA-DRB2
266Annotation score:
P019122B13_HUMAN
HLA class II histocompatibility ant...
HLA-DRB1
266Annotation score:
Q299742B1G_HUMAN
HLA class II histocompatibility ant...
HLA-DRB1
266Annotation score:
Q9TQE02B19_HUMAN
HLA class II histocompatibility ant...
HLA-DRB1
266Annotation score:
Q95IE32B1C_HUMAN
HLA class II histocompatibility ant...
HLA-DRB1
266Annotation score:
P200392B1B_HUMAN
HLA class II histocompatibility ant...
HLA-DRB1
266Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence CAB45249 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti124V → G in BAH23562 (Ref. 10) Curated1

Polymorphismi

The following alleles of DRB1-14 are known: DRB1*14:01, DRB1*14:02, DRB1*14:03, DRB1*14:04, DRB1*14:05, DRB1*14:06, DRB1*14:07, DRB1*14:08, DRB1*14:09, DRB1*14:10, DRB1*14:11, DRB1*14:12, DRB1*14:13, DRB1*14:14, DRB1*14:15, DRB1*14:16, DRB1*14:17, DRB1*14:18, DRB1*14:19, DRB1*14:20, DRB1*14:21, DRB1*14:22, DRB1*14:23, DRB1*14:24, DRB1*14:25, DRB1*14:26, DRB1*14:27, DRB1*14:28, DRB1*14:29, DRB1*14:30, DRB1*14:31, DRB1*14:32, DRB1*14:33, DRB1*14:34, DRB1*14:35, DRB1*14:36, DRB1*14:37, DRB1*14:38, DRB1*14:39, DRB1*14:40, DRB1*14:41, DRB1*14:42, DRB1*14:43, DRB1*14:44, DRB1*14:45, DRB1*14:46, DRB1*14:47, DRB1*14:48, DRB1*14:49, DRB1*14:50, DRB1*14:51, DRB1*14:52, DRB1*14:53, DRB1*14:54, DRB1*14:55, DRB1*14:56, DRB1*14:57, DRB1*14:58, DRB1*14:59, DRB1*14:60, DRB1*14:61, DRB1*14:62, DRB1*14:63, DRB1*14:64, DRB1*14:65, DRB1*14:67, DRB1*14:68, DRB1*14:69, DRB1*14:70, DRB1*14:71, DRB1*14:72, DRB1*14:73, DRB1*14:74, DRB1*14:75, DRB1*14:76, DRB1*14:77, DRB1*14:78, DRB1*14:79, DRB1*14:80, DRB1*14:81, DRB1*14:82, DRB1*14:83, DRB1*14:84 and DRB1*14:85. The sequence shown is that of DRB1*14:01.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06290739Y → L in allele DRB1*14:46; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06290639Y → Q in allele DRB1*14:10 and allele DRB1*14:57; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06291040S → P in allele DRB1*14:39. 1
Natural variantiVAR_06290840S → R in allele DRB1*14:46. 1
Natural variantiVAR_06290940S → V in allele DRB1*14:10 and allele DRB1*14:57; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06291141T → K in allele DRB1*14:10, allele DRB1*14:46 and allele DRB1*14:57. 1
Natural variantiVAR_06291342S → G in allele DRB1*14:04, allele DRB1*14:11, allele DRB1*14:15, allele DRB1*14:28, allele DRB1*14:31, allele DRB1*14:50, allele DRB1*14:52, allele DRB1*14:61, allele DRB1*14:68, allele DRB1*14:71, allele DRB1*14:73, allele DRB1*14:76 and allele DRB1*14:79. 1
Natural variantiVAR_06291242S → H in allele DRB1*14:10 and allele DRB1*14:57; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06291545H → Q in allele DRB1*14:05, allele DRB1*14:37, allele DRB1*14:43, allele DRB1*14:44, allele DRB1*14:45, allele DRB1*14:56 and allele DRB1*14:84. 1
Natural variantiVAR_06291445H → Y in allele DRB1*14:04, allele DRB1*14:11, allele DRB1*14:15, allele DRB1*14:28, allele DRB1*14:31, allele DRB1*14:50, allele DRB1*14:52, allele DRB1*14:68, allele DRB1*14:71, allele DRB1*14:73, allele DRB1*14:76 and allele DRB1*14:79. 1
Natural variantiVAR_06291654R → Q in allele DRB1*14:26. 1
Natural variantiVAR_06291755F → Y in allele DRB1*14:82. 1
Natural variantiVAR_06291856L → M in allele DRB1*14:83. 1
Natural variantiVAR_06291957D → E in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:06, allele DRB1*14:12, allele DRB1*14:13, allele DRB1*14:18, allele DRB1*14:19, allele DRB1*14:20, allele DRB1*14:24, allele DRB1*14:27, allele DRB1*14:29, allele DRB1*14:40, allele DRB1*14:41, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:48, allele DRB1*14:49, allele DRB1*14:51, allele DRB1*14:52, allele DRB1*14:63, allele DRB1*14:67, allele DRB1*14:77, allele DRB1*14:78, allele DRB1*14:81, allele DRB1*14:83 and allele DRB1*14:85. 1
Natural variantiVAR_06292059Y → H in allele DRB1*14:70. 1
Natural variantiVAR_06292161H → Y in allele DRB1*14:25, allele DRB1*14:42, allele DRB1*14:53, allele DRB1*14:58 and allele DRB1*14:69. 1
Natural variantiVAR_06292366F → N in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:06, allele DRB1*14:09, allele DRB1*14:12, allele DRB1*14:13, allele DRB1*14:17, allele DRB1*14:18, allele DRB1*14:19, allele DRB1*14:21, allele DRB1*14:24, allele DRB1*14:27, allele DRB1*14:29, allele DRB1*14:30, allele DRB1*14:33, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:48, allele DRB1*14:51, allele DRB1*14:52, allele DRB1*14:59, allele DRB1*14:63, allele DRB1*14:64, allele DRB1*14:67, allele DRB1*14:78, allele DRB1*14:80, allele DRB1*14:81, allele DRB1*14:83 and allele DRB1*14:85; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06292266F → Y in allele DRB1*14:25, allele DRB1*14:42, allele DRB1*14:53, allele DRB1*14:58 and allele DRB1*14:69. 1
Natural variantiVAR_06292467V → L in allele DRB1*14:41 and allele DRB1*14:77. 1
Natural variantiVAR_06292574G → R in allele DRB1*14:36 and allele DRB1*14:60. 1
Natural variantiVAR_06292676Y → F in allele DRB1*14:17, allele DRB1*14:21, allele DRB1*14:30, allele DRB1*14:33, allele DRB1*14:35, allele DRB1*14:42, allele DRB1*14:53, allele DRB1*14:64, allele DRB1*14:65 and allele DRB1*14:72. 1
Natural variantiVAR_06292780T → R in allele DRB1*14:59. 1
Natural variantiVAR_06292886A → D in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:05, allele DRB1*14:06, allele DRB1*14:08, allele DRB1*14:09, allele DRB1*14:11, allele DRB1*14:12, allele DRB1*14:14, allele DRB1*14:15, allele DRB1*14:17, allele DRB1*14:18, allele DRB1*14:19, allele DRB1*14:20, allele DRB1*14:21, allele DRB1*14:23, allele DRB1*14:24, allele DRB1*14:27, allele DRB1*14:29, allele DRB1*14:30, allele DRB1*14:33, allele DRB1*14:34, allele DRB1*14:36, allele DRB1*14:37, allele DRB1*14:40, allele DRB1*14:41, allele DRB1*14:42, allele DRB1*14:43, allele DRB1*14:44, allele DRB1*14:45, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:51, allele DRB1*14:52, allele DRB1*14:56, allele DRB1*14:59, allele DRB1*14:64, allele DRB1*14:67, allele DRB1*14:72, allele DRB1*14:77, allele DRB1*14:80, allele DRB1*14:81, allele DRB1*14:83 and allele DRB1*14:84. 1
Natural variantiVAR_06292986A → S in allele DRB1*14:13, allele DRB1*14:63, allele DRB1*14:65, allele DRB1*14:78 and allele DRB1*14:85. 1
Natural variantiVAR_06293086A → T in allele DRB1*14:62. 1
Natural variantiVAR_06293186A → V in allele DRB1*14:48. 1
Natural variantiVAR_06293287A → E in allele DRB1*14:11. 1
Natural variantiVAR_06293489H → S in allele DRB1*14:48 and allele DRB1*14:64; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06293389H → Y in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:05, allele DRB1*14:06, allele DRB1*14:09, allele DRB1*14:11, allele DRB1*14:12, allele DRB1*14:13, allele DRB1*14:14, allele DRB1*14:15, allele DRB1*14:17, allele DRB1*14:18, allele DRB1*14:19, allele DRB1*14:20, allele DRB1*14:21, allele DRB1*14:23, allele DRB1*14:24, allele DRB1*14:27, allele DRB1*14:29, allele DRB1*14:30, allele DRB1*14:33, allele DRB1*14:36, allele DRB1*14:37, allele DRB1*14:40, allele DRB1*14:41, allele DRB1*14:42, allele DRB1*14:43, allele DRB1*14:44, allele DRB1*14:45, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:51, allele DRB1*14:52, allele DRB1*14:56, allele DRB1*14:57, allele DRB1*14:59, allele DRB1*14:63, allele DRB1*14:65, allele DRB1*14:67, allele DRB1*14:76, allele DRB1*14:77, allele DRB1*14:78, allele DRB1*14:80, allele DRB1*14:81, allele DRB1*14:83, allele DRB1*14:84 and allele DRB1*14:85. 1
Natural variantiVAR_06293596L → F in allele DRB1*14:15, allele DRB1*14:22, allele DRB1*14:25, allele DRB1*14:27, allele DRB1*14:53 and allele DRB1*14:73. 1
Natural variantiVAR_06293696L → I in allele DRB1*14:16, allele DRB1*14:24, allele DRB1*14:37, allele DRB1*14:45, allele DRB1*14:57, allele DRB1*14:63, allele DRB1*14:67 and allele DRB1*14:78. 1
Natural variantiVAR_06293899R → D in allele DRB1*14:03, allele DRB1*14:12, allele DRB1*14:15, allele DRB1*14:16, allele DRB1*14:22, allele DRB1*14:25, allele DRB1*14:27, allele DRB1*14:40, allele DRB1*14:53, allele DRB1*14:57, allele DRB1*14:63, allele DRB1*14:67, allele DRB1*14:69, allele DRB1*14:73, allele DRB1*14:74, allele DRB1*14:77, allele DRB1*14:78, allele DRB1*14:84 and allele DRB1*14:85; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06293799R → Q in allele DRB1*14:02, allele DRB1*14:06, allele DRB1*14:09, allele DRB1*14:13, allele DRB1*14:17, allele DRB1*14:19, allele DRB1*14:20, allele DRB1*14:21, allele DRB1*14:24, allele DRB1*14:29, allele DRB1*14:30, allele DRB1*14:33, allele DRB1*14:37, allele DRB1*14:41, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:48, allele DRB1*14:49, allele DRB1*14:51, allele DRB1*14:52, allele DRB1*14:76, allele DRB1*14:79, allele DRB1*14:80 and allele DRB1*14:83. 1
Natural variantiVAR_062941100R → A in allele DRB1*14:24 and allele DRB1*14:37; requires 2 nucleotide substitutions. 1
Natural variantiVAR_062940100R → E in allele DRB1*14:16 and allele DRB1*14:57; requires 2 nucleotide substitutions. 1
Natural variantiVAR_062939100R → K in allele DRB1*14:19, allele DRB1*14:21, allele DRB1*14:76 and allele DRB1*14:79. 1
Natural variantiVAR_062943102A → G in allele DRB1*14:76 and allele DRB1*14:79. 1
Natural variantiVAR_062942102A → S in allele DRB1*14:56. 1
Natural variantiVAR_062944103E → A in allele DRB1*14:02, allele DRB1*14:06, allele DRB1*14:09, allele DRB1*14:13, allele DRB1*14:16, allele DRB1*14:17, allele DRB1*14:19, allele DRB1*14:20, allele DRB1*14:21, allele DRB1*14:22, allele DRB1*14:24, allele DRB1*14:25, allele DRB1*14:29, allele DRB1*14:30, allele DRB1*14:31, allele DRB1*14:32, allele DRB1*14:34, allele DRB1*14:37, allele DRB1*14:41, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:48, allele DRB1*14:49, allele DRB1*14:52, allele DRB1*14:53, allele DRB1*14:57, allele DRB1*14:65, allele DRB1*14:69, allele DRB1*14:74, allele DRB1*14:80, allele DRB1*14:81 and allele DRB1*14:83. 1
Natural variantiVAR_062945103E → L in allele DRB1*14:03, allele DRB1*14:12, allele DRB1*14:15, allele DRB1*14:27, allele DRB1*14:40, allele DRB1*14:55, allele DRB1*14:63, allele DRB1*14:67, allele DRB1*14:77, allele DRB1*14:78, allele DRB1*14:84 and allele DRB1*14:85; requires 2 nucleotide substitutions. 1
Natural variantiVAR_062946103E → R in allele DRB1*14:76 and allele DRB1*14:79; requires 2 nucleotide substitutions. 1
Natural variantiVAR_062948106T → A in allele DRB1*14:43. 1
Natural variantiVAR_062947106T → N in allele DRB1*14:38, allele DRB1*14:47, allele DRB1*14:50, allele DRB1*14:76 and allele DRB1*14:79. 1
Natural variantiVAR_062949110H → Y in allele DRB1*14:75. 1
Natural variantiVAR_062950114V → A in allele DRB1*14:28 and allele DRB1*14:29. 1
Natural variantiVAR_062951115V → G in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:07, allele DRB1*14:09, allele DRB1*14:13, allele DRB1*14:14, allele DRB1*14:19, allele DRB1*14:22, allele DRB1*14:24, allele DRB1*14:25, allele DRB1*14:27, allele DRB1*14:30, allele DRB1*14:36, allele DRB1*14:40, allele DRB1*14:41, allele DRB1*14:42, allele DRB1*14:44, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:48, allele DRB1*14:49, allele DRB1*14:51, allele DRB1*14:53, allele DRB1*14:63, allele DRB1*14:67, allele DRB1*14:68, allele DRB1*14:69, allele DRB1*14:77 and allele DRB1*14:85. 1
Natural variantiVAR_062952115V → M in allele DRB1*14:71. 1
Natural variantiVAR_062953141Y → H in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:04, allele DRB1*14:05, allele DRB1*14:06, allele DRB1*14:07, allele DRB1*14:10, allele DRB1*14:11, allele DRB1*14:13, allele DRB1*14:14, allele DRB1*14:21, allele DRB1*14:46, allele DRB1*14:54, allele DRB1*14:57 and allele DRB1*14:82. 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB062112 mRNA Translation: BAB84521.2
AJ297582 mRNA Translation: CAC08822.1
AJ297583 mRNA Translation: CAC08823.1
AJ297584 mRNA Translation: CAC08824.1
AJ297585 mRNA Translation: CAC08825.1
AY663408 Genomic DNA Translation: AAU88014.1
AY935719 mRNA Translation: AAX33315.1
AY961071 mRNA Translation: AAX63459.2
DQ235685 Genomic DNA Translation: ABB52004.1
DQ390459 Genomic DNA Translation: ABD60300.1
DQ390460 Genomic DNA Translation: ABD60301.1
FJ379259 Genomic DNA Translation: ACJ06537.1
Z38072 Genomic DNA Translation: CAA86217.1
FM196525 Genomic DNA Translation: CAQ86516.1
AM109998 Genomic DNA Translation: CAJ33605.1
AM109999 Genomic DNA Translation: CAJ33606.1
AM110000 Genomic DNA Translation: CAJ33607.1
AM110001 Genomic DNA Translation: CAJ33608.1
AM110002 Genomic DNA Translation: CAJ33609.1
AM110003 Genomic DNA Translation: CAJ33610.1
AB485773 Genomic DNA Translation: BAH23562.1
Z50730 Genomic DNA No translation available.
AJ242985 Genomic DNA Translation: CAB45249.1 Sequence problems.
AJ251985 Genomic DNA Translation: CAC19086.1
AY050186 Genomic DNA Translation: AAL23547.1
AY054375 mRNA Translation: AAL15169.1
AF400066 Genomic DNA Translation: AAK85431.1
AY267905 Genomic DNA Translation: AAP32696.1
AY267906 Genomic DNA Translation: AAP32697.1
AJ969417 Genomic DNA Translation: CAI94542.1
AY912075 Genomic DNA Translation: AAY17288.1
DQ333353 Genomic DNA Translation: ABC59115.1
AM259285 Genomic DNA Translation: CAJ90660.1
EF199810 Genomic DNA Translation: ABM90423.1
AM774161 Genomic DNA Translation: CAO81738.1
EF495154 Genomic DNA Translation: ABP38039.1
AM922324 Genomic DNA Translation: CAP58300.1
DQ494324 Genomic DNA Translation: ABF50050.1
EU588391 Genomic DNA Translation: ACB97664.1
D86502 Genomic DNA Translation: BAA13097.1
D86504 Genomic DNA Translation: BAA13099.1
D88310 Genomic DNA Translation: BAA13587.1
AJ010982 Genomic DNA Translation: CAA09450.1
AF172071 Genomic DNA Translation: AAD51970.1
AJ543433 Genomic DNA Translation: CAD65908.1
AY277390 Genomic DNA Translation: AAP34694.1
AJ581744 Genomic DNA Translation: CAE46451.1
AJ812566 Genomic DNA Translation: CAH23708.1
AY770520 Genomic DNA Translation: AAV37191.1
DQ021915 Genomic DNA Translation: AAY85747.1
AM084908 Genomic DNA Translation: CAJ29895.1
DQ327711 Genomic DNA Translation: ABC59293.1
DQ358688 Genomic DNA Translation: ABC84557.1
AM233907 Genomic DNA Translation: CAJ80873.1
DQ643390 Genomic DNA Translation: ABG25965.1
U95115 Genomic DNA Translation: AAB58397.2
AM933133 Genomic DNA Translation: CAP69806.1
EU545181 Genomic DNA Translation: ACB30275.1
AB049830 Genomic DNA Translation: BAB16682.1
AB049831 Genomic DNA Translation: BAB16683.1
AB049832 Genomic DNA Translation: BAB16684.1
AB087875 Genomic DNA Translation: BAC02938.1
AB087876 Genomic DNA Translation: BAC02939.1
AB436778 Genomic DNA Translation: BAG32234.1
EF078986 Genomic DNA Translation: ABK56696.1
EF536016 Genomic DNA Translation: ABQ08747.1
EU029787 Genomic DNA Translation: ABU86846.1
EU029788 Genomic DNA Translation: ABU86847.1
EU029792 Genomic DNA Translation: ABU86851.1
EU029793 Genomic DNA Translation: ABU86852.1
EU029798 Genomic DNA Translation: ABU86857.1
EU643616 Genomic DNA Translation: ACD01094.1
EU812536 Genomic DNA Translation: ACE88696.1
EU924810 Genomic DNA Translation: ACH57405.1
DQ060439 Genomic DNA Translation: AAY59541.1
DQ060441 Genomic DNA Translation: AAY59543.1
DQ782331 Genomic DNA Translation: ABG91054.1
FM179681 Genomic DNA Translation: CAQ77159.1
FJ594768 Genomic DNA Translation: ACM47962.1
AF177215 Genomic DNA Translation: AAD53910.1
X99839 Genomic DNA Translation: CAA68150.1
AJ289123 Genomic DNA Translation: CAC19015.1
AY174092 Genomic DNA Translation: AAO20089.1
AY174181 Genomic DNA Translation: AAO17053.1
M77673 Genomic DNA Translation: AAA73131.1
AF028010 Genomic DNA Translation: AAB94612.1
AF112879 Genomic DNA Translation: AAD29584.1
X86974 Genomic DNA No translation available.
U41489 Genomic DNA Translation: AAA86242.1
AJ508388 Genomic DNA Translation: CAD48196.1
PIRiB33287
C33287
C60748
F60748
PH0157
PH0158
S03440
UniGeneiHs.485130
Hs.534322
Hs.696211
Hs.716081
Hs.723344
Hs.736560

Genome annotation databases

EnsembliENST00000328980; ENSP00000331343; ENSG00000206306
ENST00000360004; ENSP00000353099; ENSG00000196126
ENST00000399450; ENSP00000382378; ENSG00000206240
ENST00000412634; ENSP00000408795; ENSG00000228080
ENST00000415796; ENSP00000412168; ENSG00000206306
ENST00000419393; ENSP00000403458; ENSG00000228080
ENST00000428566; ENSP00000392280; ENSG00000206240
UCSCiuc063uqx.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB062112 mRNA Translation: BAB84521.2
AJ297582 mRNA Translation: CAC08822.1
AJ297583 mRNA Translation: CAC08823.1
AJ297584 mRNA Translation: CAC08824.1
AJ297585 mRNA Translation: CAC08825.1
AY663408 Genomic DNA Translation: AAU88014.1
AY935719 mRNA Translation: AAX33315.1
AY961071 mRNA Translation: AAX63459.2
DQ235685 Genomic DNA Translation: ABB52004.1
DQ390459 Genomic DNA Translation: ABD60300.1
DQ390460 Genomic DNA Translation: ABD60301.1
FJ379259 Genomic DNA Translation: ACJ06537.1
Z38072 Genomic DNA Translation: CAA86217.1
FM196525 Genomic DNA Translation: CAQ86516.1
AM109998 Genomic DNA Translation: CAJ33605.1
AM109999 Genomic DNA Translation: CAJ33606.1
AM110000 Genomic DNA Translation: CAJ33607.1
AM110001 Genomic DNA Translation: CAJ33608.1
AM110002 Genomic DNA Translation: CAJ33609.1
AM110003 Genomic DNA Translation: CAJ33610.1
AB485773 Genomic DNA Translation: BAH23562.1
Z50730 Genomic DNA No translation available.
AJ242985 Genomic DNA Translation: CAB45249.1 Sequence problems.
AJ251985 Genomic DNA Translation: CAC19086.1
AY050186 Genomic DNA Translation: AAL23547.1
AY054375 mRNA Translation: AAL15169.1
AF400066 Genomic DNA Translation: AAK85431.1
AY267905 Genomic DNA Translation: AAP32696.1
AY267906 Genomic DNA Translation: AAP32697.1
AJ969417 Genomic DNA Translation: CAI94542.1
AY912075 Genomic DNA Translation: AAY17288.1
DQ333353 Genomic DNA Translation: ABC59115.1
AM259285 Genomic DNA Translation: CAJ90660.1
EF199810 Genomic DNA Translation: ABM90423.1
AM774161 Genomic DNA Translation: CAO81738.1
EF495154 Genomic DNA Translation: ABP38039.1
AM922324 Genomic DNA Translation: CAP58300.1
DQ494324 Genomic DNA Translation: ABF50050.1
EU588391 Genomic DNA Translation: ACB97664.1
D86502 Genomic DNA Translation: BAA13097.1
D86504 Genomic DNA Translation: BAA13099.1
D88310 Genomic DNA Translation: BAA13587.1
AJ010982 Genomic DNA Translation: CAA09450.1
AF172071 Genomic DNA Translation: AAD51970.1
AJ543433 Genomic DNA Translation: CAD65908.1
AY277390 Genomic DNA Translation: AAP34694.1
AJ581744 Genomic DNA Translation: CAE46451.1
AJ812566 Genomic DNA Translation: CAH23708.1
AY770520 Genomic DNA Translation: AAV37191.1
DQ021915 Genomic DNA Translation: AAY85747.1
AM084908 Genomic DNA Translation: CAJ29895.1
DQ327711 Genomic DNA Translation: ABC59293.1
DQ358688 Genomic DNA Translation: ABC84557.1
AM233907 Genomic DNA Translation: CAJ80873.1
DQ643390 Genomic DNA Translation: ABG25965.1
U95115 Genomic DNA Translation: AAB58397.2
AM933133 Genomic DNA Translation: CAP69806.1
EU545181 Genomic DNA Translation: ACB30275.1
AB049830 Genomic DNA Translation: BAB16682.1
AB049831 Genomic DNA Translation: BAB16683.1
AB049832 Genomic DNA Translation: BAB16684.1
AB087875 Genomic DNA Translation: BAC02938.1
AB087876 Genomic DNA Translation: BAC02939.1
AB436778 Genomic DNA Translation: BAG32234.1
EF078986 Genomic DNA Translation: ABK56696.1
EF536016 Genomic DNA Translation: ABQ08747.1
EU029787 Genomic DNA Translation: ABU86846.1
EU029788 Genomic DNA Translation: ABU86847.1
EU029792 Genomic DNA Translation: ABU86851.1
EU029793 Genomic DNA Translation: ABU86852.1
EU029798 Genomic DNA Translation: ABU86857.1
EU643616 Genomic DNA Translation: ACD01094.1
EU812536 Genomic DNA Translation: ACE88696.1
EU924810 Genomic DNA Translation: ACH57405.1
DQ060439 Genomic DNA Translation: AAY59541.1
DQ060441 Genomic DNA Translation: AAY59543.1
DQ782331 Genomic DNA Translation: ABG91054.1
FM179681 Genomic DNA Translation: CAQ77159.1
FJ594768 Genomic DNA Translation: ACM47962.1
AF177215 Genomic DNA Translation: AAD53910.1
X99839 Genomic DNA Translation: CAA68150.1
AJ289123 Genomic DNA Translation: CAC19015.1
AY174092 Genomic DNA Translation: AAO20089.1
AY174181 Genomic DNA Translation: AAO17053.1
M77673 Genomic DNA Translation: AAA73131.1
AF028010 Genomic DNA Translation: AAB94612.1
AF112879 Genomic DNA Translation: AAD29584.1
X86974 Genomic DNA No translation available.
U41489 Genomic DNA Translation: AAA86242.1
AJ508388 Genomic DNA Translation: CAD48196.1
PIRiB33287
C33287
C60748
F60748
PH0157
PH0158
S03440
UniGeneiHs.485130
Hs.534322
Hs.696211
Hs.716081
Hs.723344
Hs.736560

3D structure databases

ProteinModelPortaliQ9GIY3
SMRiQ9GIY3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9GIY3, 1 interactor

Chemistry databases

ChEMBLiCHEMBL3988561

PTM databases

GlyConnecti1372
SwissPalmiQ9GIY3

Polymorphism and mutation databases

DMDMi74761361

Proteomic databases

EPDiQ9GIY3
PeptideAtlasiQ9GIY3
PRIDEiQ9GIY3

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328980; ENSP00000331343; ENSG00000206306
ENST00000360004; ENSP00000353099; ENSG00000196126
ENST00000399450; ENSP00000382378; ENSG00000206240
ENST00000412634; ENSP00000408795; ENSG00000228080
ENST00000415796; ENSP00000412168; ENSG00000206306
ENST00000419393; ENSP00000403458; ENSG00000228080
ENST00000428566; ENSP00000392280; ENSG00000206240
UCSCiuc063uqx.1 human

Organism-specific databases

DisGeNETi3123
EuPathDBiHostDB:ENSG00000196126.10
GeneCardsiHLA-DRB1
HGNCiHGNC:4948 HLA-DRB1
HPAiCAB015400
CAB034021
MalaCardsiHLA-DRB1
MIMi142857 gene
neXtProtiNX_Q9GIY3
GenAtlasiSearch...

Phylogenomic databases

HOVERGENiHBG012730

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

Miscellaneous databases

ChiTaRSiHLA-DRB1 human
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196126 Expressed in 94 organ(s), highest expression level in spleen
ExpressionAtlasiQ9GIY3 baseline and differential
GenevisibleiQ9GIY3 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
IPR000353 MHC_II_b_N
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
PF00969 MHC_II_beta, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD000328 MHC_II_b_N, 1 hit
SMARTiView protein in SMART
SM00407 IGc1, 1 hit
SM00921 MHC_II_beta, 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 namei2B1E_HUMAN
AccessioniPrimary (citable) accession number: Q9GIY3
Secondary accession number(s): A0N0W1
, A2TGX3, A4ZY86, A5H000, A5HKN8, A7DZP9, A7X5B1, A7X5B7, A7X5E0, A7X5E6, A7X5H8, A9JPG0, B1GWE7, B2CR03, B2LVF9, B2NJ29, B2ZCY1, B3VTP8, B5B8U0, B5B9V5, B5LZ25, B6VEL9, B9VRA4, B9X248, O02876, O46793, O77969, O78210, Q0PQ39, Q155F7, Q1AP33, Q1JRP3, Q27PR6, Q27PR7, Q29734, Q29770, Q29772, Q29800, Q2A120, Q2HZE5, Q2LE76, Q2MJA6, Q2VQU1, Q307W5, Q31636, Q3LA87, Q3LA88, Q3LA89, Q3LA90, Q3LA91, Q3LA92, Q3T919, Q4PRC3, Q4PRC5, Q4VZY7, Q56FP1, Q5BM92, Q5U9W6, Q683P7, Q70GL2, Q7YNY9, Q7YQA5, Q860D8, Q860D9, Q860S0, Q861H5, Q861H7, Q8MH59, Q8MH60, Q8WLU3, Q95348, Q95HK1, Q95HL0, Q95IG2, Q9GIL5, Q9GIL6, Q9GIY0, Q9GIY1, Q9GIY2, Q9GJ56, Q9GJ57, Q9GJ58, Q9TPB6, Q9TPW1, Q9XRY4, Q9Y4H7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 23, 2010
Last sequence update: March 1, 2001
Last modified: October 10, 2018
This is version 122 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

Complete proteome, 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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again