P16189 (1A31_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HLA class I histocompatibility antigen, A-31 alpha chain

Alternative name(s):
MHC class I antigen A*31

Gene names

Name:	HLA-A
Synonyms:	HLAA

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	365 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript 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 A-31 are known: A*31:01, A*31:02, A*31:03, A*31:04, A*31:05 (A3101v1) and A*31:06. The sequence shown is that of A*31:01. Allele A*31:01 is associated with carbamazepine-induced hypersensitivity reactions among subjects of Northern European ancestry [MIM:608579].
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 Reference proteome
Gene Ontology (GO)
Biological process	antigen processing and presentation of peptide antigen via MHC class I Inferred from electronic annotation. Source: UniProtKB-KW immune response Inferred from electronic annotation. Source: InterPro interspecies interaction between organisms Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	MHC class I protein complex Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 24	24
	Chain	25 – 365	341	HLA class I histocompatibility antigen, A-31 alpha chain		PRO_0000018823
Regions
	Topological domain	25 – 308	284	Extracellular Potential
	Transmembrane	309 – 332	24	Helical; Potential
	Topological domain	333 – 365	33	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...) By similarity
	Disulfide bond	125 ↔ 188		By similarity
	Disulfide bond	227 ↔ 283		By similarity
Natural variations
	Natural variant	90	1	N → K in allele A*31:02.		VAR_016348
	Natural variant	114	1	A → D in allele A*31:03.		VAR_016349
	Natural variant	121	1	M → I in allele A*31:03 and allele A*31:04.		VAR_010373
	Natural variant	138	1	Q → R in allele A*31:03, allele A*31:04 and allele A*31:06.		VAR_010374
	Natural variant	151	1	N → K. Corresponds to variant rs1059509 [ dbSNP | Ensembl ].		VAR_056280
	Natural variant	166	1	I → T. Corresponds to variant rs1059516 [ dbSNP | Ensembl ].		VAR_056281
	Natural variant	190 – 191	2	EW → DG in allele A*31:05.		VAR_016350
	Natural variant	205	1	R → H. Corresponds to variant rs17185861 [ dbSNP | Ensembl ].		VAR_056282

Sequences

	Sequence		Length	Mass (Da)
	P16189 [UniParc]. Last modified April 1, 1993. Version 2. Checksum: 4E760C821A3C553B	FASTA	365	41,004
	10 20 30 40 50 60 MAVMAPRTLL LLLLGALALT QTWAGSHSMR YFTTSVSRPG RGEPRFIAVG YVDDTQFVRF 70 80 90 100 110 120 DSDAASQRME PRAPWIEQER PEYWDQETRN VKAHSQIDRV DLGTLRGYYN QSEAGSHTIQ 130 140 150 160 170 180 MMYGCDVGSD GRFLRGYQQD AYDGKDYIAL NEDLRSWTAA DMAAQITQRK WEAARVAEQL 190 200 210 220 230 240 RAYLEGTCVE WLRRYLENGK ETLQRTDPPK THMTHHAVSD HEATLRCWAL SFYPAEITLT 250 260 270 280 290 300 WQRDGEDQTQ DTELVETRPA GDGTFQKWAS VVVPSGQEQR YTCHVQHEGL PKPLTLRWEP 310 320 330 340 350 360 SSQPTIPIVG IIAGLVLFGA VFAGAVVAAV RWRRKSSDRK GGSYSQAASS DSAQGSDMSL TACKV

References

[1]	"Molecular analysis of the serologically defined HLA-Aw19 antigens. A genetically distinct family of HLA-A antigens comprising A29, A31, A32, and Aw33, but probably not A30." Kato K., Trapani J.A., Allopenna J., Dupont B., Yang S.Y. J. Immunol. 143:3371-3378(1989) [PubMed: 2478623] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELE A*31:01).
[2]	"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 (ALLELE A*31:01).
[3]	"On the sequence of A*3101." Arnett K.L., Adams E.J., Parham P. Tissue Antigens 47:428-430(1996) [PubMed: 8795145] [Abstract] Cited for: NUCLEOTIDE SEQUENCE (ALLELE A*31:01).
[4]	"New recombinant HLA-B alleles in a tribe of South American Amerindians indicate rapid evolution of MHC class I loci." Watkins D.I., McAdam S.N., Liu X., Stang C.R., Milford E.L., Levine C.G., Garber T.L., Dogon A.L., Lord C.I., Ghim S.H., Troup G.M., Hughes A.L., Letvin N.L. Nature 357:329-333(1992) [PubMed: 1589035] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 9-365 (ALLELE A*31:01).
[5]	"A new HLA-A*31 allele." Bettinotti M.P., Dhillon G., Hackett J., Simonis T.B., Marincola F.M. Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ALLELE A*31:04).
[6]	"Characterization of two new HLA-A alleles identified by PCR-SSP." Bunce M., Dunn P., Ross J. Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE A*31:03).
[7]	"New HLA-A31 allele identified in African American population." Mitsuishi Y. Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE A*31:04).
[8]	"Characterization of an HLA-A*31 variant." Dunn P.P. Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE A*31:02).
[9]	"HLA-A31012V1." Juji T., Akesaka T., Kashiwase K., Ishikawa Y. Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE A*31:05).
[10]	"Non-conservative substitutions distinguish previously uncharacterized HLA-A molecules." Hickman H.D., Cavett J.W., Ellexson-Turner M.E., Sparkman J.N., Bennett T.T., Turner S., Sidebottom D.A., Trachtenberg E.A., Confer D.L., Hildebrand W.H. Tissue Antigens 57:95-102(2001) [PubMed: 11260503] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE A*31:02).
[11]	"Four new HLA alleles found, and confirmation of DRB1*0322, DRB1*1433 and A*3106." Anholts J.D.H. Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 26-206 (ALLELE A*31:06). Tissue: Blood.
[12]	"HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans." McCormack M., Alfirevic A., Bourgeois S., Farrell J.J., Kasperaviciute D., Carrington M., Sills G.J., Marson T., Jia X., de Bakker P.I., Chinthapalli K., Molokhia M., Johnson M.R., O'Connor G.D., Chaila E., Alhusaini S., Shianna K.V., Radtke R.A. , Heinzen E.L., Walley N., Pandolfo M., Pichler W., Park B.K., Depondt C., Sisodiya S.M., Goldstein D.B., Deloukas P., Delanty N., Cavalleri G.L., Pirmohamed M. N. Engl. J. Med. 364:1134-1143(2011) [PubMed: 21428769] [Abstract] Cited for: ASSOCIATION OF ALLELE A*31:01 WITH CARBAMAZEPINE-INDUCED HYPERSENSITIVITY REACTIONS.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M30578 Genomic DNA. Translation: AAA59613.1. M84375 mRNA. Translation: AAA59599.1. L78918 Genomic DNA. Translation: AAB05976.1. AF148863 Genomic DNA. Translation: AAD39981.1. AF067439, AF067438 Genomic DNA. Translation: AAC18859.1. AF105028, AF105027 Genomic DNA. Translation: AAC79721.1. AJ239045 Genomic DNA. Translation: CAB43109.1. AJ239046 Genomic DNA. Translation: CAB43110.1. AB032597 Genomic DNA. Translation: BAA84645.1. AF041370, AF041369 Genomic DNA. Translation: AAD02207.1. AJ506789, AJ506790 Genomic DNA. Translation: CAD44950.1.
IPI	IPI00646225.
PIR	I72170.
UniGene	Hs.181244. Hs.713441.
3D structure databases
ProteinModelPortal	P16189.
SMR	P16189. Positions 25-294.
ModBase	Search...
Protein-protein interaction databases
STRING	P16189.
Polymorphism databases
DMDM	231367.
Proteomic databases
PRIDE	P16189.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000412057; ENSP00000411730; ENSG00000231834. ENST00000456012; ENSP00000408986; ENSG00000231834.
Organism-specific databases
GeneCards	GC06P029921. GC06Pl29898.
HGNC	HGNC:4931. HLA-A.
MIM	142800. gene. 608579. phenotype.
neXtProt	NX_P16189.
Orphanet	179. Chorioretinopathy, Birdshot type.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	HBG016709.
Gene expression databases
CleanEx	HS_HLA-A.
Genevestigator	P16189.
GermOnline	ENSG00000204632. Homo sapiens.
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. IPR011162. MHC_I/II-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.
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
SOURCE	Search...

Entry information

Entry name

1A31_HUMAN

Accession

Primary (citable) accession number: P16189
Secondary accession number(s): O62924 , O98009, O98137, Q8MHM1, Q9TPQ3, Q9TQ24, Q9UQU6, Q9UQU7

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	April 1, 1993
Last modified:	December 14, 2011
This is version 104 of the entry and version 2 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.