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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

Complete GO annotation...

Keywords - Biological processi

Host-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

HGNCiHGNC:4932. HLA-B.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 309285ExtracellularSequence analysisAdd
BLAST
Transmembranei310 – 33324HelicalSequence analysisAdd
BLAST
Topological domaini334 – 36229CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, MHC I

Pathology & Biotechi

Organism-specific databases

MalaCardsiHLA-B.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Add
BLAST
Chaini25 – 362338HLA class I histocompatibility antigen, B-48 alpha chainPRO_0000018851Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi110 – 1101N-linked (GlcNAc...)By similarity
Disulfide bondi125 ↔ 188PROSITE-ProRule annotation
Disulfide bondi227 ↔ 283PROSITE-ProRule annotation

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, 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

Protein-protein interaction databases

STRINGi9606.ENSP00000399168.

Structurei

3D structure databases

ProteinModelPortaliP30486.
SMRiP30486. Positions 25-301.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini209 – 29587Ig-like C1-typeAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni25 – 11490Alpha-1Add
BLAST
Regioni115 – 20692Alpha-2Add
BLAST
Regioni207 – 29892Alpha-3Add
BLAST
Regioni299 – 30911Connecting peptideAdd
BLAST

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.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003006. Ig/MHC_CS.
IPR003597. Ig_C1-set.
IPR011161. MHC_I-like_Ag-recog.
IPR011162. MHC_I/II-like_Ag-recog.
IPR001039. MHC_I_a_a1/a2.
IPR010579. MHC_I_a_C.
[Graphical view]
PfamiPF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
PF06623. MHC_I_C. 1 hit.
[Graphical view]
PRINTSiPR01638. MHCCLASSI.
SMARTiSM00407. IGc1. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF54452. SSF54452. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41M → T.
Corresponds to variant rs1050458 [ dbSNP | Ensembl ].
VAR_056391
Natural varianti9 – 91V → L.
Corresponds to variant rs1050462 [ dbSNP | Ensembl ].
VAR_056392
Natural varianti17 – 171L → V.
Corresponds to variant rs1131165 [ dbSNP | Ensembl ].
VAR_056393
Natural varianti35 – 351S → A.
Corresponds to variant rs1131170 [ dbSNP | Ensembl ].
VAR_056394
Natural varianti36 – 361V → M.
Corresponds to variant rs1050486 [ dbSNP | Ensembl ].
VAR_056395
Natural varianti48 – 481S → A.
Corresponds to variant rs713031 [ dbSNP | Ensembl ].
VAR_061426
Natural varianti48 – 481S → P.
Corresponds to variant rs713031 [ dbSNP | Ensembl ].
VAR_061427
Natural varianti48 – 481S → T.
Corresponds to variant rs713031 [ dbSNP | Ensembl ].
VAR_061428
Natural varianti65 – 651A → T.Combined sources
Corresponds to variant rs1050529 [ dbSNP | Ensembl ].
VAR_056396
Natural varianti101 – 1011S → N.
Corresponds to variant rs1050388 [ dbSNP | Ensembl ].
VAR_056397
Natural varianti121 – 1211S → R in allele B*48:03.
VAR_016477
Natural varianti137 – 1371H → Y.
Corresponds to variant rs1050379 [ dbSNP | Ensembl ].
VAR_056398
Natural varianti155 – 1551R → S.
Corresponds to variant rs1050654 [ dbSNP | Ensembl ].
VAR_056399
Natural varianti187 – 1871E → A.
Corresponds to variant rs2308466 [ dbSNP | Ensembl ].
VAR_059482
Natural varianti187 – 1871E → G.
Corresponds to variant rs2308466 [ dbSNP | Ensembl ].
VAR_059483
Natural varianti187 – 1871E → K.
Corresponds to variant rs2523600 [ dbSNP | Ensembl ].
VAR_059484
Natural varianti187 – 1871E → Q.
Corresponds to variant rs2523600 [ dbSNP | Ensembl ].
VAR_059485
Natural varianti187 – 1871E → V.
Corresponds to variant rs2308466 [ dbSNP | Ensembl ].
VAR_059486
Natural varianti195 – 1951Y → H.
Corresponds to variant rs1050696 [ dbSNP | Ensembl ].
VAR_056400
Natural varianti306 – 3061V → I.
Corresponds to variant rs1131500 [ dbSNP | Ensembl ].
VAR_056401
Natural varianti329 – 3291A → T.
Corresponds to variant rs1051488 [ dbSNP | Ensembl ].
VAR_056402
Natural varianti349 – 3491C → S.
Corresponds to variant rs2308655 [ dbSNP | Ensembl ].
VAR_061429
Natural varianti349 – 3491C → Y.
Corresponds to variant rs2308655 [ dbSNP | Ensembl ].
VAR_061430

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.77961.

Genome annotation databases

EnsembliENST00000412585; ENSP00000399168; ENSG00000234745.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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.77961.

3D structure databases

ProteinModelPortaliP30486.
SMRiP30486. Positions 25-301.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000399168.

PTM databases

SwissPalmiP30486.

Proteomic databases

EPDiP30486.
MaxQBiP30486.
PaxDbiP30486.
PeptideAtlasiP30486.
PRIDEiP30486.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000412585; ENSP00000399168; ENSG00000234745.

Organism-specific databases

GeneCardsiHLA-B.
HGNCiHGNC:4932. HLA-B.
HPAiCAB015418.
MalaCardsiHLA-B.
MIMi142830. gene.
neXtProtiNX_P30486.
GenAtlasiSearch...

Phylogenomic databases

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

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.

Miscellaneous databases

ChiTaRSiHLA-B. human.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003006. Ig/MHC_CS.
IPR003597. Ig_C1-set.
IPR011161. MHC_I-like_Ag-recog.
IPR011162. MHC_I/II-like_Ag-recog.
IPR001039. MHC_I_a_a1/a2.
IPR010579. MHC_I_a_C.
[Graphical view]
PfamiPF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
PF06623. MHC_I_C. 1 hit.
[Graphical view]
PRINTSiPR01638. MHCCLASSI.
SMARTiSM00407. IGc1. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 1 hit.
SSF54452. SSF54452. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry namei1B48_HUMAN
AccessioniPrimary (citable) accession number: P30486
Secondary accession number(s): Q29764
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: September 7, 2016
This is version 131 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.