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Protein

HLA class I histocompatibility antigen, B-48 alpha chain

Gene

HLA-B

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

Functioni

Involved in the presentation of foreign antigens to the immune system.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processHost-virus interaction, Immunity

Enzyme and pathway databases

ReactomeiR-HSA-1236974. ER-Phagosome pathway.
R-HSA-1236977. Endosomal/Vacuolar pathway.
R-HSA-198933. Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.
R-HSA-877300. Interferon gamma signaling.
R-HSA-909733. Interferon alpha/beta signaling.
R-HSA-983170. Antigen Presentation: Folding, assembly and peptide loading of class I MHC.

Names & Taxonomyi

Protein namesi
Recommended name:
HLA class I histocompatibility antigen, B-48 alpha chain
Alternative name(s):
Bw-48
MHC class I antigen B*48
Gene namesi
Name:HLA-B
Synonyms:HLAB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000234745.9.
HGNCiHGNC:4932. HLA-B.

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 domaini25 – 309ExtracellularSequence analysisAdd BLAST285
Transmembranei310 – 333HelicalSequence analysisAdd BLAST24
Topological domaini334 – 362CytoplasmicSequence analysisAdd BLAST29

Keywords - Cellular componenti

Membrane, MHC I

Pathology & Biotechi

Organism-specific databases

DisGeNETi3106.
MalaCardsiHLA-B.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Add BLAST24
ChainiPRO_000001885125 – 362HLA class I histocompatibility antigen, B-48 alpha chainAdd BLAST338

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...) asparagineBy similarity1
Disulfide bondi125 ↔ 188PROSITE-ProRule annotation
Disulfide bondi227 ↔ 283PROSITE-ProRule annotation
Modified residuei356PhosphoserineBy similarity1
Modified residuei359PhosphoserineBy similarity1

Post-translational modificationi

Polyubiquitinated in a post ER compartment by interaction with human herpesvirus 8 MIR1 protein. This targets the protein for rapid degradation via the ubiquitin system (By similarity).By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP30486.
MaxQBiP30486.
PaxDbiP30486.
PeptideAtlasiP30486.
PRIDEiP30486.

PTM databases

SwissPalmiP30486.

Expressioni

Gene expression databases

BgeeiENSG00000234745.
CleanExiHS_HLA-B.
ExpressionAtlasiP30486. baseline and differential.
GenevisibleiP30486. HS.

Organism-specific databases

HPAiCAB015418.

Interactioni

Subunit structurei

Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1 protein (By similarity).By similarity

Structurei

3D structure databases

ProteinModelPortaliP30486.
SMRiP30486.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini209 – 295Ig-like C1-typeAdd BLAST87

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni25 – 114Alpha-1Add BLAST90
Regioni115 – 206Alpha-2Add BLAST92
Regioni207 – 298Alpha-3Add BLAST92
Regioni299 – 309Connecting peptideAdd BLAST11

Sequence similaritiesi

Belongs to the MHC class I family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II5V. Eukaryota.
ENOG4111K8F. LUCA.
HOVERGENiHBG016709.
OrthoDBiEOG091G09OH.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
3.30.500.10. 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.
IPR011161. MHC_I-like_Ag-recog.
IPR037055. MHC_I-like_Ag-recog_sf.
IPR011162. MHC_I/II-like_Ag-recog.
IPR001039. MHC_I_a_a1/a2.
IPR010579. MHC_I_a_C.
PfamiView protein in Pfam
PF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
PF06623. MHC_I_C. 1 hit.
PRINTSiPR01638. MHCCLASSI.
SMARTiView protein in SMART
SM00407. IGc1. 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.

P30486-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLVMAPRTVL LLLSAALALT ETWAGSHSMR YFYTSVSRPG RGEPRFISVG
60 70 80 90 100
YVDDTQFVRF DSDAASPREE PRAPWIEQEG PEYWDRETQI SKTNTQTYRE
110 120 130 140 150
SLRNLRGYYN QSEAGSHTLQ SMYGCDVGPD GRLLRGHNQY AYDGKDYIAL
160 170 180 190 200
NEDLRSWTAA DTAAQISQRK LEAARVAEQL RAYLEGECVE WLRRYLENGK
210 220 230 240 250
DKLERADPPK THVTHHPISD HEATLRCWAL GFYPAEITLT WQRDGEDQTQ
260 270 280 290 300
DTELVETRPA GDRTFQKWTA VVVPSGEEQR YTCHVQHEGL PKPLTLRWEP
310 320 330 340 350
SSQSTVPIVG IVAGLAVLAV VVIGAVVAAV MCRRKSSGGK GGSYSQAACS
360
DSAQGSDVSL TA
Length:362
Mass (Da):40,362
Last modified:April 1, 1993 - v1
Checksum:i8FADC7B64EBD5C8D
GO

Polymorphismi

The following alleles of B-48 are known: B*48:01 and B*48:03. The sequence shown is that of B*48:01.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0563914M → T. Corresponds to variant dbSNP:rs1050458Ensembl.1
Natural variantiVAR_0563929V → L. Corresponds to variant dbSNP:rs1050462Ensembl.1
Natural variantiVAR_05639317L → V. Corresponds to variant dbSNP:rs1131165Ensembl.1
Natural variantiVAR_05639435S → A. Corresponds to variant dbSNP:rs1131170Ensembl.1
Natural variantiVAR_05639536V → M. Corresponds to variant dbSNP:rs1050486Ensembl.1
Natural variantiVAR_06142648S → A. Corresponds to variant dbSNP:rs713031Ensembl.1
Natural variantiVAR_06142748S → P. Corresponds to variant dbSNP:rs713031Ensembl.1
Natural variantiVAR_06142848S → T. Corresponds to variant dbSNP:rs713031Ensembl.1
Natural variantiVAR_05639665A → TCombined sourcesCorresponds to variant dbSNP:rs1050529Ensembl.1
Natural variantiVAR_056397101S → N. Corresponds to variant dbSNP:rs1050388Ensembl.1
Natural variantiVAR_016477121S → R in allele B*48:03. 1
Natural variantiVAR_056398137H → Y. Corresponds to variant dbSNP:rs1050379Ensembl.1
Natural variantiVAR_056399155R → S. Corresponds to variant dbSNP:rs1050654Ensembl.1
Natural variantiVAR_059482187E → A. Corresponds to variant dbSNP:rs2308466Ensembl.1
Natural variantiVAR_059483187E → G. Corresponds to variant dbSNP:rs2308466Ensembl.1
Natural variantiVAR_059484187E → K. Corresponds to variant dbSNP:rs2523600Ensembl.1
Natural variantiVAR_059485187E → Q. Corresponds to variant dbSNP:rs2523600Ensembl.1
Natural variantiVAR_059486187E → V. Corresponds to variant dbSNP:rs2308466Ensembl.1
Natural variantiVAR_056400195Y → H. Corresponds to variant dbSNP:rs1050696Ensembl.1
Natural variantiVAR_056401306V → I. Corresponds to variant dbSNP:rs1131500Ensembl.1
Natural variantiVAR_056402329A → T. Corresponds to variant dbSNP:rs1051488Ensembl.1
Natural variantiVAR_061429349C → S. Corresponds to variant dbSNP:rs2308655Ensembl.1
Natural variantiVAR_061430349C → Y. Corresponds to variant dbSNP:rs2308655Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M84380 mRNA. Translation: AAA59629.1.
AJ309139 Genomic DNA. Translation: CAC38066.1.
L76931 mRNA. Translation: AAB59617.1.
PIRiI61903.
UniGeneiHs.654404.
Hs.726974.
Hs.77961.

Genome annotation databases

EnsembliENST00000412585; ENSP00000399168; ENSG00000234745.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry namei1B48_HUMAN
AccessioniPrimary (citable) accession number: P30486
Secondary accession number(s): Q29764
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: October 25, 2017
This is version 140 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