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Protein

HLA class II histocompatibility antigen, DRB1-13 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, DRB1-13 beta chain
Alternative name(s):
MHC class II antigen DRB1*13
Short name:
DR-13
Short name:
DR13
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:4948 HLA-DRB1
MIMi142857 gene
neXtProtiNX_Q5Y7A7

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

DMDMi74757225

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 29Sequence analysisAdd BLAST29
ChainiPRO_000039229030 – 266HLA class II histocompatibility antigen, DRB1-13 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

EPDiQ5Y7A7
MaxQBiQ5Y7A7
PeptideAtlasiQ5Y7A7
PRIDEiQ5Y7A7

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

IntActiQ5Y7A7, 1 interactor

Structurei

3D structure databases

ProteinModelPortaliQ5Y7A7
SMRiQ5Y7A7
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

Sequencei

Sequence statusi: Complete.

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

Q5Y7A7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVCLRLPGGS CMAVLTVTLM VLSSPLALAG DTRPRFLEYS TSECHFFNGT
60 70 80 90 100
ERVRFLDRYF HNQEENVRFD SDVGEFRAVT ELGRPDAEYW NSQKDILEDE
110 120 130 140 150
RAAVDTYCRH NYGVVESFTV QRRVHPKVTV YPSKTQPLQH HNLLVCSVSG
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):30,008
Last modified:November 23, 2004 - v1
Checksum:i17731F784445CC39
GO

Sequence cautioni

The sequence CAB40418 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti104V → L in CAA04628 (Ref. 46) Curated1
Sequence conflicti121Q → H in AAC05271 (PubMed:16634878).Curated1
Sequence conflicti124V → G in BAA06216 (PubMed:17767557).Curated1

Polymorphismi

The following alleles of DRB1-13 are known: DRB1*13:01, DRB1*13:02, DRB1*13:03, DRB1*13:04, DRB1*13:05, DRB1*13:06, DRB1*13:07, DRB1*13:08, DRB1*13:09, DRB1*13:10, DRB1*13:11, DRB1*13:12, DRB1*13:13, DRB1*13:14, DRB1*13:15, DRB1*13:16, DRB1*13:17, DRB1*13:18, DRB1*13:19, DRB1*13:20, DRB1*13:21, DRB1*13:22, DRB1*13:23, DRB1*13:24, DRB1*13:25, DRB1*13:26, DRB1*13:27, DRB1*13:28, DRB1*13:29, DRB1*13:30, DRB1*13:31, DRB1*13:32, DRB1*13:33, DRB1*13:34, DRB1*13:35, DRB1*13:36, DRB1*13:37, DRB1*13:38, DRB1*13:39, DRB1*13:40, DRB1*13:41, DRB1*13:42, DRB1*13:43, DRB1*13:44, DRB1*13:45, DRB1*13:46, DRB1*13:47, DRB1*13:48, DRB1*13:49, DRB1*13:50, DRB1*13:51, DRB1*13:52, DRB1*13:53, DRB1*13:54, DRB1*13:55, DRB1*13:56, DRB1*13:57, DRB1*13:58, DRB1*13:59, DRB1*13:60, DRB1*13:61, DRB1*13:62, DRB1*13:63, DRB1*13:64, DRB1*13:65, DRB1*13:66, DRB1*13:67, DRB1*13:68, DRB1*13:69, DRB1*13:70, DRB1*13:71, DRB1*13:72, DRB1*13:73, DRB1*13:74, DRB1*13:75, DRB1*13:76, DRB1*13:77, DRB1*13:78, DRB1*13:79, DRB1*13:80, DRB1*13:81, DRB1*13:82, DRB1*13:83, DRB1*13:84, DRB1*13:85, DRB1*13:86, DRB1*13:87 and DRB1*13:88. The sequence shown is that of DRB1*13:01.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06286639Y → L in allele DRB1*13:67; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06286740S → L in allele DRB1*13:67. 1
Natural variantiVAR_06286841T → K in allele DRB1*13:67. 1
Natural variantiVAR_06286942S → G in allele DRB1*13:17. 1
Natural variantiVAR_06287145H → Q in allele DRB1*13:72. 1
Natural variantiVAR_06287045H → Y in allele DRB1*13:17. 1
Natural variantiVAR_06287254R → L in allele DRB1*13:73. 1
Natural variantiVAR_06287355F → Y in allele DRB1*13:27, allele DRB1*13:41 and allele DRB1*13:71. 1
Natural variantiVAR_06287456L → Q in allele DRB1*13:59. 1
Natural variantiVAR_06287557D → E in allele DRB1*13:15, allele DRB1*13:19, allele DRB1*13:26, allele DRB1*13:53, allele DRB1*13:57, allele DRB1*13:85 and allele DRB1*13:86. 1
Natural variantiVAR_06287661H → Y in allele DRB1*13:03, allele DRB1*13:07, allele DRB1*13:04, allele DRB1*13:11, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:14, allele DRB1*13:17, allele DRB1*13:21, allele DRB1*13:22, allele DRB1*13:23, allele DRB1*13:24, allele DRB1*13:25, allele DRB1*13:30, allele DRB1*13:33, allele DRB1*13:37, allele DRB1*13:38, allele DRB1*13:44, allele DRB1*13:45, allele DRB1*13:46, allele DRB1*13:47, allele DRB1*13:48, allele DRB1*13:49, allele DRB1*13:50, allele DRB1*13:54, allele DRB1*13:55, allele DRB1*13:58, allele DRB1*13:60, allele DRB1*13:62, allele DRB1*13:66, allele DRB1*13:69, allele DRB1*13:70, allele DRB1*13:75, allele DRB1*13:81, allele DRB1*13:82, allele DRB1*13:86 and allele DRB1*13:88. 1
Natural variantiVAR_06288066N → D in allele DRB1*13:62 and allele DRB1*13:68. 1
Natural variantiVAR_06287866N → F in allele DRB1*13:08, allele DRB1*13:19, allele DRB1*13:57, allele DRB1*13:64, allele DRB1*13:72, allele DRB1*13:76 and allele DRB1*13:83; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06288166N → I in allele DRB1*13:87. 1
Natural variantiVAR_06287966N → S in allele DRB1*13:60 and allele DRB1*13:84. 1
Natural variantiVAR_06287766N → Y in allele DRB1*13:03, allele DRB1*13:07, allele DRB1*13:04, allele DRB1*13:11, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:14, allele DRB1*13:17, allele DRB1*13:21, allele DRB1*13:22, allele DRB1*13:23, allele DRB1*13:24, allele DRB1*13:25, allele DRB1*13:30, allele DRB1*13:33, allele DRB1*13:37, allele DRB1*13:38, allele DRB1*13:44, allele DRB1*13:45, allele DRB1*13:46, allele DRB1*13:47, allele DRB1*13:48, allele DRB1*13:49, allele DRB1*13:52, allele DRB1*13:54, allele DRB1*13:55, allele DRB1*13:58, allele DRB1*13:66, allele DRB1*13:70, allele DRB1*13:75, allele DRB1*13:81, allele DRB1*13:82, allele DRB1*13:86 and allele DRB1*13:88. 1
Natural variantiVAR_06288267V → L in allele DRB1*13:34, allele DRB1*13:62 and allele DRB1*13:64. 1
Natural variantiVAR_06288376F → Y in allele DRB1*13:03, allele DRB1*13:07, allele DRB1*13:08, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:19, allele DRB1*13:26, allele DRB1*13:32, allele DRB1*13:33, allele DRB1*13:36, allele DRB1*13:37, allele DRB1*13:38, allele DRB1*13:40, allele DRB1*13:47, allele DRB1*13:48, allele DRB1*13:49, allele DRB1*13:53, allele DRB1*13:55, allele DRB1*13:58, allele DRB1*13:60, allele DRB1*13:65, allele DRB1*13:70, allele DRB1*13:72, allele DRB1*13:76, allele DRB1*13:81, allele DRB1*13:84, allele DRB1*13:85 and allele DRB1*13:88. 1
Natural variantiVAR_06288477R → L in allele DRB1*13:35. 1
Natural variantiVAR_06288577R → W in allele DRB1*13:80. 1
Natural variantiVAR_06288679V → L in allele DRB1*13:51. 1
Natural variantiVAR_06288986D → A in allele DRB1*13:43 and allele DRB1*13:45. 1
Natural variantiVAR_06288786D → S in allele DRB1*13:03, allele DRB1*13:04, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:21, allele DRB1*13:30, allele DRB1*13:32, allele DRB1*13:33, allele DRB1*13:38, allele DRB1*13:48, allele DRB1*13:49, allele DRB1*13:55, allele DRB1*13:58, allele DRB1*13:65, allele DRB1*13:66, allele DRB1*13:75, allele DRB1*13:81 and allele DRB1*13:88; requires 2 nucleotide substitutions. 1
Natural variantiVAR_06288886D → V in allele DRB1*13:31, allele DRB1*13:46, allele DRB1*13:54 and allele DRB1*13:77. 1
Natural variantiVAR_06289189Y → H in allele DRB1*13:43 and allele DRB1*13:45. 1
Natural variantiVAR_06289089Y → S in allele DRB1*13:39, allele DRB1*13:54, allele DRB1*13:77, allele DRB1*13:78 and allele DRB1*13:79. 1
Natural variantiVAR_06289296I → F in allele DRB1*13:07, allele DRB1*13:05, allele DRB1*13:11, allele DRB1*13:14, allele DRB1*13:18, allele DRB1*13:21, allele DRB1*13:24, allele DRB1*13:26, allele DRB1*13:42, allele DRB1*13:46, allele DRB1*13:47, allele DRB1*13:49, allele DRB1*13:50, allele DRB1*13:54, allele DRB1*13:55, allele DRB1*13:62, allele DRB1*13:63 and allele DRB1*13:75. 1
Natural variantiVAR_06289396I → L in allele DRB1*13:20, allele DRB1*13:25, allele DRB1*13:29, allele DRB1*13:43, allele DRB1*13:44, allele DRB1*13:56, allele DRB1*13:60, allele DRB1*13:71, allele DRB1*13:78, allele DRB1*13:86 and allele DRB1*13:88. 1
Natural variantiVAR_06289497L → R in allele DRB1*13:74. 1
Natural variantiVAR_06289599D → Q in allele DRB1*13:09, allele DRB1*13:44 and allele DRB1*13:86; requires 2 nucleotide substitutions. 1
Natural variantiVAR_062898100E → A in allele DRB1*13:09. 1
Natural variantiVAR_062897100E → K in allele DRB1*13:03, allele DRB1*13:10, allele DRB1*13:33, allele DRB1*13:37, allele DRB1*13:66, allele DRB1*13:81, allele DRB1*13:85 and allele DRB1*13:88. 1
Natural variantiVAR_062896100E → R in allele DRB1*13:07, allele DRB1*13:05, allele DRB1*13:06, allele DRB1*13:11, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:14, allele DRB1*13:18, allele DRB1*13:21, allele DRB1*13:25, allele DRB1*13:26, allele DRB1*13:30, allele DRB1*13:42, allele DRB1*13:44, allele DRB1*13:46, allele DRB1*13:47, allele DRB1*13:49, allele DRB1*13:50, allele DRB1*13:55, allele DRB1*13:56, allele DRB1*13:58, allele DRB1*13:60, allele DRB1*13:62, allele DRB1*13:77, allele DRB1*13:82 and allele DRB1*13:86; requires 2 nucleotide substitutions. 1
Natural variantiVAR_062900103A → E in allele DRB1*13:76. 1
Natural variantiVAR_062899103A → L in allele DRB1*13:13, allele DRB1*13:18, allele DRB1*13:47 and allele DRB1*13:55; requires 2 nucleotide substitutions. 1
Natural variantiVAR_062901106T → N in allele DRB1*13:33 and allele DRB1*13:61. 1
Natural variantiVAR_062902113G → R in allele DRB1*13:28. 1
Natural variantiVAR_062903114V → A in allele DRB1*13:58 and allele DRB1*13:81. 1
Natural variantiVAR_062905115V → D in allele DRB1*13:16. 1
Natural variantiVAR_062904115V → G in allele DRB1*13:02, allele DRB1*13:03, allele DRB1*13:07, allele DRB1*13:05, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:14, allele DRB1*13:21, allele DRB1*13:23, allele DRB1*13:25, allele DRB1*13:26, allele DRB1*13:29, allele DRB1*13:30, allele DRB1*13:31, allele DRB1*13:33, allele DRB1*13:34, allele DRB1*13:36, allele DRB1*13:37, allele DRB1*13:38, allele DRB1*13:39, allele DRB1*13:41, allele DRB1*13:45, allele DRB1*13:46, allele DRB1*13:47, allele DRB1*13:49, allele DRB1*13:50, allele DRB1*13:55, allele DRB1*13:56, allele DRB1*13:60, allele DRB1*13:62, allele DRB1*13:63, allele DRB1*13:65, allele DRB1*13:66, allele DRB1*13:67, allele DRB1*13:73, allele DRB1*13:74, allele DRB1*13:82, allele DRB1*13:85, allele DRB1*13:86 and allele DRB1*13:88. 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY663413 Genomic DNA Translation: AAU88029.1
AY663415 Genomic DNA Translation: AAU88035.1
AJ697893 mRNA Translation: CAG27026.1
AY961069 mRNA Translation: AAX63457.1
AY961070 mRNA Translation: AAX63458.2
L76133 mRNA Translation: AAL40069.1
AK293020 mRNA Translation: BAF85709.1
BC007920 mRNA Translation: AAH07920.1
L41992 Genomic DNA Translation: AAA65914.1
U17381 mRNA Translation: AAC50167.1
M59803 mRNA Translation: AAA64237.1
FM196526 Genomic DNA Translation: CAQ86517.1
AM109988 Genomic DNA Translation: CAJ33595.1
AM109989 Genomic DNA Translation: CAJ33596.1
AM109990 Genomic DNA Translation: CAJ33597.1
AM109991 Genomic DNA Translation: CAJ33598.1
AM109992 Genomic DNA Translation: CAJ33599.1
AM109993 Genomic DNA Translation: CAJ33600.1
AM109994 Genomic DNA Translation: CAJ33601.1
AM109995 Genomic DNA Translation: CAJ33602.1
AM109996 Genomic DNA Translation: CAJ33603.1
AM109997 Genomic DNA Translation: CAJ33604.1
D29836 Genomic DNA Translation: BAA06216.1
Z48631 Genomic DNA No translation available.
X86326 Genomic DNA No translation available.
AF136155 Genomic DNA Translation: AAD27646.1
AF164346 Genomic DNA Translation: AAD47814.1
AF169239 Genomic DNA Translation: AAD51315.1
AF243537 Genomic DNA Translation: AAG00414.1
AF243538 Genomic DNA Translation: AAG00415.1
AF352295 Genomic DNA Translation: AAK27712.1
AF306862 Genomic DNA Translation: AAG42258.1
AF247533 Genomic DNA Translation: AAF99607.1
AY178845 Genomic DNA Translation: AAO18733.1
AJ555156 Genomic DNA Translation: CAD87537.1
AY048687 Genomic DNA Translation: AAL12226.1
AF441789 Genomic DNA Translation: AAL35834.1
AY765349 Genomic DNA Translation: AAV35213.1
AJ634529 Genomic DNA Translation: CAG25408.1
AY963587 Genomic DNA Translation: AAX51706.1
AM086025 Genomic DNA Translation: CAJ30431.1
AM494414 Genomic DNA Translation: CAM36736.1
EF053230 Genomic DNA Translation: ABK33462.1
AM158254 Genomic DNA Translation: CAJ43560.1
EF196873 Genomic DNA Translation: ABM69041.1
AM904556 Genomic DNA Translation: CAP17407.1
U97554 Genomic DNA Translation: AAB58309.1
AF048688 Genomic DNA Translation: AAC05271.1
AF170582 Genomic DNA Translation: AAD50971.1
AJ245717 Genomic DNA Translation: CAB53346.1
AJ249591 Genomic DNA Translation: CAB56840.1
AJ401236 Genomic DNA Translation: CAB96577.1
AB049459 Genomic DNA Translation: BAB16298.1
AF305212 Genomic DNA Translation: AAG22826.1
AJ271206 Genomic DNA Translation: CAC27122.1
AY178184 Genomic DNA Translation: AAO21939.1
AY277392 Genomic DNA Translation: AAP34696.1
AY225520 Genomic DNA Translation: AAO67727.1
AY259126 Genomic DNA Translation: AAP21612.1
AB112913 Genomic DNA Translation: BAD02944.1
AY339247 Genomic DNA Translation: AAQ18914.1
AY379480 Genomic DNA Translation: AAQ85128.1
AY502108 Genomic DNA Translation: AAR89455.1
AJ627565 Genomic DNA Translation: CAF28889.1
AJ783982 Genomic DNA Translation: CAH04455.1
AJ853708 Genomic DNA Translation: CAH68606.1
AM279417 Genomic DNA Translation: CAK50561.1
EF493833 Genomic DNA Translation: ABP68561.1
EF493832 Genomic DNA Translation: ABP68560.1
AM931066 Genomic DNA Translation: CAP62371.1
DQ473293 Genomic DNA Translation: ABF18979.1
DQ514602 Genomic DNA Translation: ABF60565.1
DQ525629 Genomic DNA Translation: ABF74594.1
EU029803 Genomic DNA Translation: ABU86862.1
EU071684 Genomic DNA Translation: ABS87343.1
EU812541 Genomic DNA Translation: ACE88700.1
EU826130 Genomic DNA Translation: ACF36162.1
EU826129 Genomic DNA Translation: ACF36161.1
FJ688163 Genomic DNA Translation: ACN56340.1
U36827 Genomic DNA Translation: AAC51629.1
U36825 Genomic DNA Translation: AAC51628.1
U79025 Genomic DNA Translation: AAB52235.1
AF499445 Genomic DNA Translation: AAP68877.1
X93924 Genomic DNA No translation available.
AJ001254 Genomic DNA Translation: CAA04628.1
AJ237964 Genomic DNA Translation: CAB40418.1 Sequence problems.
AJ488066 Genomic DNA Translation: CAD32373.1
AY174182 Genomic DNA Translation: AAO17054.1
AY179366 Genomic DNA Translation: AAO23237.1
L23534 Genomic DNA Translation: AAA62591.1
U72264 Genomic DNA Translation: AAB17276.1
X97407 Genomic DNA Translation: CAA66060.1
X96396 Genomic DNA Translation: CAA65260.1
AJ276873 Genomic DNA Translation: CAB82169.1
PIRiD25239
I38899
I59647
I72484
PH0155
S03439
UniGeneiHs.485130
Hs.534322
Hs.696211
Hs.716081
Hs.723344
Hs.736560

Genome annotation databases

EnsembliENST00000328980; ENSP00000331343; ENSG00000206306
ENST00000399450; ENSP00000382378; ENSG00000206240
ENST00000415796; ENSP00000412168; ENSG00000206306
ENST00000428566; ENSP00000392280; ENSG00000206240

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry namei2B1D_HUMAN
AccessioniPrimary (citable) accession number: Q5Y7A7
Secondary accession number(s): A0MWF2
, A2ICT1, A4ZXA5, A4ZXA6, A7UHG2, A7X5K7, A8YQE9, B0BK85, B3VTQ3, B5A8Y2, B5A8Y3, B5B9V6, B5QSK8, C0LAB5, O02930, O62889, O78047, P79545, Q14280, Q14QT2, Q19K86, Q1G0Z9, Q1KLJ6, Q29673, Q29720, Q29722, Q29806, Q29833, Q29874, Q29886, Q2MF40, Q2YHQ2, Q30112, Q3LA93, Q3LA94, Q3LA95, Q3LA96, Q3LA97, Q3LA98, Q3LA99, Q3LAA0, Q3LAA1, Q3LAA2, Q3MQ60, Q53IG1, Q56FP2, Q56FP3, Q58F52, Q5K3W2, Q5UBA2, Q5W3L4, Q6REE2, Q6U387, Q701T1, Q70Q85, Q768U2, Q7YP03, Q7YQ26, Q7YQA3, Q860E5, Q860H8, Q860Z3, Q861G6, Q861H0, Q861H4, Q8HWQ6, Q8WMA0, Q95389, Q95HL1, Q96HZ9, Q9BCP5, Q9BD21, Q9GIP3, Q9GJ25, Q9GJ60, Q9GJF8, Q9GJF9, Q9GJG0, Q9MY45, Q9MY56, Q9TPW3, Q9TPW9, Q9TPX4, Q9UBY1, Q9UIN0, Q9XRX1, Q9Y453
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 23, 2010
Last sequence update: November 23, 2004
Last modified: July 18, 2018
This is version 109 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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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