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

Names and origin

Protein names

Recommended name:
    HLA class I histocompatibility antigen, B-40 alpha chain
Alternative name(s):
    MHC class I antigen B*40
    Bw-60

Gene names

Name:	HLA-B
Synonyms:	HLAB

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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*4001, B*4002, B*4003 (B40-G1), B*4004 (B40-G2), B*4005 (BN21), B*4006, B*4008, B*4009, B*4016 and B*4027. The sequence shown is that of B*4002.
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 Immune response
Cellular component	MHC I Membrane
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane
PTM	Glycoprotein Ubl conjugation
Technical term	Direct protein sequencing
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Signal peptide	1 – 24	24
	Chain	25 – 362	338	HLA class I histocompatibility antigen, B-40 alpha chain
Regions
	Topological domain	25 – 308	284	Extracellular Potential
	Transmembrane	309 – 332	24	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*4001.
	Natural variant	14 – 15	2	WG → SA in allele B*4001.
	Natural variant	17	1	V → L in allele B*4001.
	Natural variant	35 – 36	2	SV → AM in allele B*4001 and allele B*4016.
	Natural variant	87	1	E → N in allele B*4008; requires 2 nucleotide substitutions.
	Natural variant	91	1	S → F in allele B*4008.
	Natural variant	118 – 119	2	TL → II in allele B*4003.
	Natural variant	119	1	L → W in allele B*4006.
	Natural variant	121	1	S → R in allele B*4001 and allele B*4003.
	Natural variant	121	1	S → T in allele B*4006.
	Natural variant	127	1	V → L in allele B*4003.
	Natural variant	137	1	H → Y in allele B*4009.
	Natural variant	138	1	N → D in allele B*4004 and allele B*4009.
	Natural variant	140	1	Y → N in allele B*4027.
	Natural variant	140	1	Y → S in allele B*4004.
	Natural variant	167	1	T → S in allele B*4001.
	Natural variant	171	1	W → L in allele B*4001.
	Natural variant	176	1	V → E in allele B*4005 and allele B*4016.
	Natural variant	180	1	L → R in allele B*4016.
	Natural variant	187	1	E → L in allele B*4005; requires 2 nucleotide substitutions.
	Natural variant	201 – 202	2	ET → DK in allele B*4001 and allele B*4016.
	Natural variant	204	1	Q → E in allele B*4001 and allele B*4016.
Experimental info
	Sequence conflict	167	1	Missing AA sequence Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q04826-1 [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: 2437025] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELE B*4001).
[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: 7517584] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE B*4001).
[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: 6193808] [Abstract] Cited for: PROTEIN SEQUENCE OF 25-295 (B*4001).
[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: 1362296] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELE B*4002).
[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: 1481202] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 13-318 (ALLELE B*4002). 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: 1317015] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELES B*4003 AND B*4004).
[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: 1385528] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELE B*4005).
[8]	Herrero M.J. Submitted (FEB-1995) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ALLELE B*4006).
[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: 12622774] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELE B*4006). 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: 8525480] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE B*4008).
[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: 10372543] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 26-206 (ALLELE B*4009).
[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: 11098929] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE B*4016).
[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*4027).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. AF017023, AF017022 Genomic DNA. Translation: AAB70252.1. AF181472, AF181471 Genomic DNA. Translation: AAD56943.1.
PIR	HLHU40. I38437. I56149. I59655. I61905. I61906. S52486.
UniGene	Hs.654404 Hs.702915 Hs.77961
3D structure databases
HSSP	HSSP built from PDB template 1A9E based on UniProtKB P30474.
SMR	Q04826. Positions 25-300.
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000206450. Homo sapiens. [Contig view]
Organism-specific databases
HGNC	HGNC:4932. HLA-B.
MIM	142830. gene.
PharmGKB	PA35056.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q04826.
Enzyme and pathway databases
Reactome	REACT_6900. Signaling in Immune System.
Gene expression databases
CleanEx	HS_HLA-B.
Family and domain databases
InterPro	IPR007110. Ig-like. IPR013783. Ig-like_fold. IPR003006. Ig/MHC_CS. IPR003597. Ig_C1-set. IPR011161. MHC_I-like_Ag-recog. IPR001039. MHC_I_a_a1/a2. IPR010579. MHC_I_a_C. [Graphical view]
Gene3D	G3DSA:2.60.40.10. Ig-like_fold. 1 hit. G3DSA:3.30.500.10. MHC_I-like_Ag-recog. 1 hit.
Pfam	PF07654. C1-set. 1 hit. PF00129. MHC_I. 1 hit. PF06623. MHC_I_C. 1 hit. [Graphical view]
PRINTS	PR01638. MHCCLASSI.
ProDom	PD000050. MHC_I. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00407. IGc1. 1 hit. [Graphical view]
PROSITE	PS50835. IG_LIKE. 1 hit. PS00290. IG_MHC. 1 hit. [Graphical view]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	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:	July 22, 2008
This is version 76 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)