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HLA-C

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
HLA-C
Available structures
PDBHuman UniProt search:PDBeRCSB
List of PDB id codes

3BZF,%%s4NT6,%%s1EFX,%%s1IM9,1QQD

Identifiers
AliasesHLA-C, D6S204, HLA-JY3, HLC-C, PSORS1, major histocompatibility complex, class I, C, MHC
External IDsOMIM:142840;HomoloGene:133080;GeneCards:HLA-C;OMA:HLA-C - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for HLA-C
Genomic location for HLA-C
Band6p21.33Start31,268,749bp[1]
End31,272,130bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • blood

  • right lung

  • spleen

  • granulocyte

  • right uterine tube

  • appendix

  • bone marrow

  • upper lobe of left lung

  • lymph node

  • bone marrow cell
    n/a
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3107

n/a

Ensembl
ENSG00000204525
ENSG00000233841
ENSG00000228299
ENSG00000225691
ENSG00000206435

ENSG00000237022
ENSG00000206452

n/a

UniProt

P10321

n/a

RefSeq (mRNA)

NM_002117
NM_001243042

n/a

RefSeq (protein)

NP_001229971
NP_002108

n/a

Location (UCSC)Chr 6: 31.27 – 31.27 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

HLA-C (Human Leukocyte Antigen-C) belongs to the MHCclass I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product andβ2-microglobulin. The mature C chain is anchored in the membrane. MHC Class I molecules, like HLA-C, are expressed in nearly all cells, and present small peptides to the immune system which surveys for non-self peptides.

HLA-C is a locus on chromosome 6, which encodes for many HLA-C alleles that are Class-I MHC receptors. HLA-C, localized proximal to the HLA-B locus, is located on the distal end of the HLA region. Most HLA-C:B haplotypes are in stronglinkage disequilibrium and many are as ancient as the human species itself.

Disease associations

[edit]

Byserotype

[edit]

Cw1:multinodular goiters[3]

Byallele

[edit]

C*16:B-cell chronic lymphocytic leukemia[4]

Nomenclature

[edit]

C*01

  • Cw1 serotype: C*01:02 and C*01:09
  • Cw11
  • C*01:04 to *01:08


C*02

  • Cw2 serotype: C*02:02 and *02:08
  • C*02:03 to *02:07, and 02:09


C*03

  • Cw9 serotype: C*03:03
  • Cw10 serotype: C*03:02, *03:04, and *03:06
  • Cw3 serotype: C*03:07
  • C*03:05 and 03:08


C*04

  • Cw4 serotype: C*0401, *0407, and *0410


C*05

  • Cw5 serotype: C*05:01 and *05:02
  • C*05:03 to *05:06 and *05:08 to *05:10


C*06

  • Cw6 serotype: C*06:02 and *06:05
  • C*06:03, *06:04 and *06:06 to *06:11


C*07

  • Cw7 serotype: C*07:01 to *07:06, *07:12, *07:14, *07:16
  • C*07:07 to *07:11, *07:13, *07:15, and *07:17 to *07:29


C*08

  • Cw8 serotype: C*08:01, *08:02 and *08:03
  • C*08:05 to *08:12


Others

  • C*12:02 to *12:15
  • C*14:02 to *14:05
  • C*15:01 to *15:11
  • C*16:01 to *16:06
  • C*17:01 to *17:03
  • C*18:01 and *18:02

Common haplotype

[edit]

Cw4-B35 (Western Africa to Native Americans) Cw7-B7 (Western Eurasia, South Africa)Cw7-B8 (Western Eurasia)Cw1-B46 (China, Indochina)Cw5-B44 (Western Eurasia)

Interactions

[edit]

HLA-C has been shown tointeract with:

References

[edit]
  1. ^abcENSG00000233841, ENSG00000228299, ENSG00000225691, ENSG00000206435, ENSG00000237022, ENSG00000206452 GRCh38: Ensembl release 89: ENSG00000204525, ENSG00000233841, ENSG00000228299, ENSG00000225691, ENSG00000206435, ENSG00000237022, ENSG00000206452Ensembl, May 2017
  2. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^Ríos A, Rodríguez JM, Moya MR, Galindo PJ, Canteras M, Alvarez MR, Parrilla P (2006)."Associations of HLA-C alleles with multinodular goiters: study in a population from southeastern Spain".Arch Surg.141 (2):123–8.doi:10.1001/archsurg.141.2.123.PMID 16490887.
  4. ^Montes-Ares O, Moya-Quiles MR, Montes-Casado M, Guerra-Pérez N, Campillo JA, González C, López-Bermejo A, Tamayo M, Majado MJ, Parrado A, Muro M, Marín L, Alvarez-López MR (2006). "Human leucocyte antigen-C in B chronic lymphocytic leukaemia".Br J Haematol.135 (4):517–9.doi:10.1111/j.1365-2141.2006.06334.x.PMID 17054674.S2CID 23018830.
  5. ^Boyson JE, Erskine R, Whitman MC, Chiu M, Lau JM, Koopman LA, Valter MM, Angelisova P, Horejsi V, Strominger JL (December 2002)."Disulfide bond-mediated dimerization of HLA-G on the cell surface".Proc. Natl. Acad. Sci. U.S.A.99 (25):16180–5.Bibcode:2002PNAS...9916180B.doi:10.1073/pnas.212643199.PMC 138585.PMID 12454284.
  6. ^Baba E, Erskine R, Boyson JE, Cohen GB, Davis DM, Malik P, Mandelboim O, Reyburn HT, Strominger JL (December 2000). "N-linked carbohydrate on human leukocyte antigen-C and recognition by natural killer cell inhibitory receptors".Hum. Immunol.61 (12):1202–18.doi:10.1016/s0198-8859(00)00184-1.PMID 11163076.
  7. ^Valés-Gómez M, Reyburn HT, Mandelboim M, Strominger JL (September 1998)."Kinetics of interaction of HLA-C ligands with natural killer cell inhibitory receptors".Immunity.9 (3):337–44.doi:10.1016/s1074-7613(00)80616-0.PMID 9768753.
  8. ^Fan QR, Long EO, Wiley DC (May 2001). "Crystal structure of the human natural killer cell inhibitory receptor KIR2DL1-HLA-Cw4 complex".Nat. Immunol.2 (5):452–60.doi:10.1038/87766.PMID 11323700.S2CID 24707532.
  9. ^Jones DC, Kosmoliaptsis V, Apps R, Lapaque N, Smith I, Kono A, Chang C, Boyle LH, Taylor CJ, Trowsdale J, Allen RL (March 2011)."HLA class I allelic sequence and conformation regulate leukocyte Ig-like receptor binding".J. Immunol.186 (5):2990–7.doi:10.4049/jimmunol.1003078.PMID 21270408.

Further reading

[edit]
PDB gallery
  • 1efx: STRUCTURE OF A COMPLEX BETWEEN THE HUMAN NATURAL KILLER CELL RECEPTOR KIR2DL2 AND A CLASS I MHC LIGAND HLA-CW3
    1efx: STRUCTURE OF A COMPLEX BETWEEN THE HUMAN NATURAL KILLER CELL RECEPTOR KIR2DL2 AND A CLASS I MHC LIGAND HLA-CW3
  • 1im9: Crystal structure of the human natural killer cell inhibitory receptor KIR2DL1 bound to its MHC ligand HLA-Cw4
    1im9: Crystal structure of the human natural killer cell inhibitory receptor KIR2DL1 bound to its MHC ligand HLA-Cw4
  • 1qqd: CRYSTAL STRUCTURE OF HLA-CW4, A LIGAND FOR THE KIR2D NATURAL KILLER CELL INHIBITORY RECEPTOR
    1qqd: CRYSTAL STRUCTURE OF HLA-CW4, A LIGAND FOR THE KIR2D NATURAL KILLER CELL INHIBITORY RECEPTOR

External links

[edit]
MHC class I
MHC class II
Other
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