Q04826 (1B40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HLA class I histocompatibility antigen, B-40 alpha chain

Alternative name(s):
Bw-60
MHC class I antigen B*40

Gene names

Name:	HLA-B
Synonyms:	HLAB

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	362 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in the presentation of foreign antigens to the immune system.
Subunit structure	Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin). Interacts with human herpesvirus 8 MIR1 protein By similarity.
Subcellular location	Membrane; Single-pass type I membrane protein.
Post-translational modification	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.
Polymorphism	The following alleles of B-40 are known: B*40:01, B*40:02, B*40:03 (B40-G1), B*40:04 (B40-G2), B*40:05 (BN21), B*40:06, B*40:08, B*40:09, B*40:16 and B*40:27. The sequence shown is that of B*40:02.
Sequence similarities	Belongs to the MHC class I family. Contains 1 Ig-like C1-type (immunoglobulin-like) domain.

Ontologies

Keywords
Biological process	Host-virus interaction Immunity
Cellular component	MHC I Membrane
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
PTM	Disulfide bond Glycoprotein Ubl conjugation
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent Traceable author statement. Source: Reactome antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent Traceable author statement. Source: Reactome interferon-gamma-mediated signaling pathway Traceable author statement. Source: Reactome regulation of immune response Traceable author statement. Source: Reactome type I interferon-mediated signaling pathway Traceable author statement. Source: Reactome virus-host interaction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	ER to Golgi transport vesicle membrane Traceable author statement. Source: Reactome Golgi membrane Traceable author statement. Source: Reactome MHC class I protein complex Inferred from electronic annotation. Source: UniProtKB-KW early endosome membrane Traceable author statement. Source: Reactome integral to lumenal side of endoplasmic reticulum membrane Traceable author statement. Source: Reactome phagocytic vesicle membrane Traceable author statement. Source: Reactome plasma membrane Traceable author statement. Source: Reactome
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 24	24	Ref.3
	Chain	25 – 362	338	HLA class I histocompatibility antigen, B-40 alpha chain		PRO_0000018844
Regions
	Topological domain	25 – 308	284	Extracellular Potential
	Transmembrane	309 – 332	24	Helical; Potential
	Topological domain	333 – 362	30	Cytoplasmic Potential
	Domain	209 – 295	87	Ig-like C1-type
	Region	25 – 114	90	Alpha-1
	Region	115 – 206	92	Alpha-2
	Region	207 – 298	92	Alpha-3
	Region	299 – 308	10	Connecting peptide
Amino acid modifications
	Glycosylation	110	1	N-linked (GlcNAc...)
	Disulfide bond	125 ↔ 188
	Disulfide bond	227 ↔ 283
Natural variations
	Natural variant	9	1	L → V in allele B*40:01.		VAR_016435
	Natural variant	14 – 15	2	WG → SA in allele B*40:01.		VAR_016436
	Natural variant	17	1	V → L in allele B*40:01.		VAR_016437
	Natural variant	35 – 36	2	SV → AM in allele B*40:01 and allele B*40:16.		VAR_016438
	Natural variant	87	1	E → N in allele B*40:08; requires 2 nucleotide substitutions.		VAR_016439
	Natural variant	91	1	S → F in allele B*40:08.		VAR_016440
	Natural variant	101	1	S → N. Corresponds to variant rs1050388 [ dbSNP | Ensembl ].		VAR_056363
	Natural variant	118 – 119	2	TL → II in allele B*40:03.		VAR_016441
	Natural variant	119	1	L → W in allele B*40:06.		VAR_016442
	Natural variant	121	1	S → R in allele B*40:01 and allele B*40:03.		VAR_016443
	Natural variant	121	1	S → T in allele B*40:06.		VAR_016444
	Natural variant	127	1	V → L in allele B*40:03.		VAR_016445
	Natural variant	137	1	H → Y in allele B*40:09. Corresponds to variant rs1050379 [ dbSNP | Ensembl ].		VAR_016658
	Natural variant	138	1	N → D in allele B*40:04 and allele B*40:09.		VAR_016446
	Natural variant	140	1	Y → N in allele B*40:27.		VAR_016447
	Natural variant	140	1	Y → S in allele B*40:04.		VAR_016448
	Natural variant	155	1	R → S. Corresponds to variant rs1050654 [ dbSNP | Ensembl ].		VAR_056364
	Natural variant	167	1	T → S in allele B*40:01.		VAR_016449
	Natural variant	171	1	W → L in allele B*40:01.		VAR_016450
	Natural variant	176	1	V → E in allele B*40:05 and allele B*40:16.		VAR_016451
	Natural variant	180	1	L → R in allele B*40:16.		VAR_016655
	Natural variant	187	1	E → L in allele B*40:05; requires 2 nucleotide substitutions.		VAR_016452
	Natural variant	201 – 202	2	ET → DK in allele B*40:01 and allele B*40:16.		VAR_016453
	Natural variant	204	1	Q → E in allele B*40:01 and allele B*40:16.		VAR_016454
	Natural variant	306	1	V → I. Corresponds to variant rs1131500 [ dbSNP | Ensembl ].		VAR_056365
	Natural variant	329	1	A → T. Corresponds to variant rs1051488 [ dbSNP | Ensembl ].		VAR_056366
	Natural variant	349	1	C → S. Corresponds to variant rs2308655 [ dbSNP | Ensembl ].		VAR_061413
	Natural variant	349	1	C → Y. Corresponds to variant rs2308655 [ dbSNP | Ensembl ].		VAR_061414
Experimental info
	Sequence conflict	167	1	Missing AA sequence Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q04826 [UniParc]. Last modified October 1, 1993. Version 1. Checksum: 7D66503ACD865152	FASTA	362	40,505
	10 20 30 40 50 60 MRVTAPRTLL LLLWGAVALT ETWAGSHSMR YFHTSVSRPG RGEPRFITVG YVDDTLFVRF 70 80 90 100 110 120 DSDATSPRKE PRAPWIEQEG PEYWDRETQI SKTNTQTYRE SLRNLRGYYN QSEAGSHTLQ 130 140 150 160 170 180 SMYGCDVGPD GRLLRGHNQY AYDGKDYIAL NEDLRSWTAA DTAAQITQRK WEAARVAEQL 190 200 210 220 230 240 RAYLEGECVE WLRRYLENGK ETLQRADPPK THVTHHPISD HEATLRCWAL GFYPAEITLT 250 260 270 280 290 300 WQRDGEDQTQ DTELVETRPA GDRTFQKWAA VVVPSGEEQR YTCHVQHEGL PKPLTLRWEP 310 320 330 340 350 360 SSQSTVPIVG IVAGLAVLAV VVIGAVVAAV MCRRKSSGGK GGSYSQAACS DSAQGSDVSL TA

References

[1]	"A transposable epitope of HLA-B7, B40 molecules." Ways J.W., Lawlor D.A., Wan A.M., Parham P. Immunogenetics 25:323-328(1987) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELE B*40:01).
[2]	"HLA-B67: a member of the HLA-B16 family that expresses the ME1 epitope." Little A.-M., Domena J.D., Hildebrand W.H., Shen S.Y., Barber L.D., Marsh S.G.E., Bias W.B., Parham P. Tissue Antigens 43:38-43(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE B*40:01).
[3]	"Primary structure of papain-solubilized human histocompatibility antigen HLA-B40 (-Bw60). An outline of alloantigenic determinants." Lopez de Castro J.A., Bragado R., Strong D.M., Strominger J.L. Biochemistry 22:3961-3969(1983) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 25-295 (B*40:01).
[4]	"The B*4002 allele encodes the B61 antigen: B40* is identical to B61." Domena J.D., Johnston-Dow L., Parham P. Tissue Antigens 40:254-256(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELE B*40:02).
[5]	"A common Japanese haplotype HLA-A26-Cw3-B61-DR9-DQ3 carries HLA-B*4002." Lin L., Watanabe Y., Tokunaga K., Kuwata S., Kohsaka T., Akaza T. Tissue Antigens 40:257-260(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 13-318 (ALLELE B*40:02). Tissue: Blood.
[6]	"Unusual HLA-B alleles in two tribes of Brazilian Indians." Belich M.P., Madrigal J.A., Hildebrand W.H., Zemmour J., Williams R.C., Luz R., Petzl-Erler M.L., Parham P. Nature 357:326-329(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELES B*40:03 AND B*40:04).
[7]	"Serologic cross-reactivities poorly reflect allelic relationships in the HLA-B12 and HLA-B21 groups. Dominant epitopes of the alpha 2 helix." Hildebrand W.H., Madrigal J.A., Belich M.P., Zemmour J., Ward F.E., Williams R.C., Parham P. J. Immunol. 149:3563-3568(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELE B*40:05).
[8]	Herrero M.J. Submitted (FEB-1995) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ALLELE B*40:06).
[9]	"Cloning and sequencing full-length HLA-B and -C genes." Cox S.T., McWhinnie A.J., Robinson J., Marsh S.G.E., Parham P., Madrigal J.A., Little A.-M. Tissue Antigens 61:20-48(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELE B*40:06). Tissue: Blood.
[10]	"Identification of a novel HLA-B40 allele (B*4008) in a patient with leukemia." Adams E.J., Little A.-M., Arnett K.L., Leushner J., Parham P. Tissue Antigens 46:204-205(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE B*40:08).
[11]	"Novel HLA-A and HLA-B alleles in South American Indians." Marcos C.Y., Fernandez-Vina M.A., Lazaro A.M., Moraes M.E., Moraes J.R., Stastny P. Tissue Antigens 53:476-485(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 26-206 (ALLELE B*40:09).
[12]	"Diversity is demonstrated in class I HLA-A and HLA-B alleles in Cameroon, Africa: description of HLA-A*03012, *2612, *3006 and HLA-B*1403, *4016, *4703." Ellis J.M., Mack S.J., Leke R.F.G., Quakyi I., Johnson A.H., Hurley C.K. Tissue Antigens 56:291-302(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE B*40:16).
[13]	"Novel HLA-B allele." Pimtanothai N., Hurley C.K. Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE B*40:27).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	U03698 mRNA. Translation: AAA03719.1. L41628 Genomic DNA. Translation: AAA65040.1. L09736 mRNA. Translation: AAA36224.1. D14343 mRNA. Translation: BAA03277.1. M84383 mRNA. Translation: AAA59633.1. M84384 mRNA. Translation: AAA59634.1. M84694 mRNA. Translation: AAA03661.1. X84725 mRNA. Translation: CAA59215.1. AJ300180 Genomic DNA. Translation: CAC15501.1. AJ292253 Genomic DNA. Translation: CAC29021.1. L41353 Genomic DNA. Translation: AAC41923.1. L76934 mRNA. Translation: AAA96270.1. AH005563 Genomic DNA. Translation: AAB70252.1. AH008232 Genomic DNA. Translation: AAD56943.1.
IPI	IPI00746105.
PIR	HLHU40. I38437. I56149. I59655. I61905. I61906. S52486.
UniGene	Hs.654404. Hs.77961.
3D structure databases
ProteinModelPortal	Q04826.
ModBase	Search...
Polymorphism databases
DMDM	416557.
Proteomic databases
PRIDE	Q04826.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000359635; ENSP00000352656; ENSG00000206450.
Organism-specific databases
GeneCards	GC06M031321.
HGNC	HGNC:4932. HLA-B.
MIM	142830. gene.
neXtProt	NX_Q04826.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	HBG016709.
InParanoid	Q04826.
Enzyme and pathway databases
Reactome	REACT_6900. Immune System.
Gene expression databases
ArrayExpress	Q04826.
CleanEx	HS_HLA-B.
Genevestigator	Q04826.
Family and domain databases
Gene3D	2.60.40.10. 1 hit. 3.30.500.10. 1 hit.
InterPro	IPR007110. 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]
Pfam	PF07654. C1-set. 1 hit. PF00129. MHC_I. 1 hit. PF06623. MHC_I_C. 1 hit. [Graphical view]
PRINTS	PR01638. MHCCLASSI.
SMART	SM00407. IGc1. 1 hit. [Graphical view]
SUPFAM	SSF54452. MHC_I/II-like_Ag-recog. 1 hit.
PROSITE	PS50835. IG_LIKE. 1 hit. PS00290. IG_MHC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	HLA-B. human.
SOURCE	Search...

Entry information

Entry name

1B40_HUMAN

Accession

Primary (citable) accession number: Q04826
Secondary accession number(s): O19556 , O19651, P01890, P30477, P30478, Q29762, Q29842, Q29855, Q30173, Q31603, Q9TPT6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1993
Last sequence update:	October 1, 1993
Last modified:	May 1, 2013
This is version 117 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.