HLA-C: Difference between revisions

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{{PBB_Controls
{{Infobox_gene}}
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = no
| update_citations = yes
}}
{{GNF_Protein_box
| image = 
| image_source = 
| Name = Major histocompatibility complex, class I, C
| HGNCid = 4933
| Symbol = HLA-C
| AltSymbols =; Cw*1701; D6S204; FLJ27082; HLA-JY3; HLC-C; PSORS1
| OMIM = 142840
| ECnumber = 
| Homologene = 86715
| MGIid = 
| GeneAtlas_image1 = PBB_GE_HLA-C_209140_x_at_tn.png
| GeneAtlas_image2 = PBB_GE_HLA-C_216526_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_HLA-C_208729_x_at_tn.png
| Function = {{GNF_GO|id=GO:0003777 |text = microtubule motor activity}} {{GNF_GO|id=GO:0032393 |text = MHC class I receptor activity}} {{GNF_GO|id=GO:0032395 |text = MHC class II receptor activity}}
| Component = {{GNF_GO|id=GO:0005858 |text = axonemal dynein complex}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0042612 |text = MHC class I protein complex}}
| Process = {{GNF_GO|id=GO:0001539 |text = ciliary or flagellar motility}} {{GNF_GO|id=GO:0002474 |text = antigen processing and presentation of peptide antigen via MHC class I}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0019882 |text = antigen processing and presentation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3107
    | Hs_Ensembl = ENSG00000204525
    | Hs_RefseqProtein = XP_001131707
    | Hs_RefseqmRNA = XM_001131707
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 31344499
    | Hs_GenLoc_end = 31347914
    | Hs_Uniprot = P10321
    | Mm_EntrezGene = 667977
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = XM_001003863
    | Mm_RefseqProtein = XP_001003863
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
{{CMG}}


'''HLA-C''' belongs to the MHC (human = HLA) [[MHC Class I|class I]] heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and [[Beta-2 microglobulin|β2-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 a large number of 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 strong [[linkage disequilibrium]] and many are as ancient as the human species itself.


'''HLA-C''' belongs to the MHC (human = HLA) class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-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.
== Disease associations ==


HLA-C is a locus on chromosome 6 that encodes for a large number of HLA-C alleles that are Class-I MHC receptors. HLA-C is localized proximal to the HLA-B locus is located on the distal end of the HLA region. Most HLA Cw:B haplotypes are in strong linkage disequilibrium and many are as ancient as the human species itself.
=== By [[serotype]] ===


==Disease Associations==
Cw1: multinodular goiters<ref>{{cite journal |vauthors=Ríos A, Rodríguez JM, Moya MR, Galindo PJ, Canteras M, Alvarez MR, Parrilla P | title = Associations of HLA-C alleles with multinodular goiters: study in a population from southeastern Spain. | journal = Arch Surg | volume = 141 | issue = 2 | pages = 123–8 | year = 2006 | pmid = 16490887 | doi = 10.1001/archsurg.141.2.123 }}</ref>
===By Serotype===
Cw1: Multinodular goiters<ref>{{cite journal | author = Ríos A, Rodríguez J, Moya M, Galindo P, Canteras M, Alvarez M, Parrilla P | title = Associations of HLA-C alleles with multinodular goiters: study in a population from southeastern Spain. | journal = Arch Surg | volume = 141 | issue = 2 | pages = 123-8 | year = 2006 | id = PMID 16490887}}</ref>


===By Allele===
=== By [[allele]] ===
Cw*16: B chronic lymphocytic leukaemia<ref>{{cite journal | author = Montes-Ares O, Moya-Quiles M, Montes-Casado M, Guerra-Pérez N, Campillo J, González C, López-Bermejo A, Tamayo M, Majado M, Parrado A, Muro M, Marín L, Alvarez-López M | title = Human leucocyte antigen-C in B chronic lymphocytic leukaemia. | journal = Br J Haematol | volume = 135 | issue = 4 | pages = 517-9 | year = 2006 | id = PMID 17054674}}</ref>


==Nomenclature==
C*16: B chronic lymphocytic leukemia<ref>{{cite journal |vauthors=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 | title = Human leucocyte antigen-C in B chronic lymphocytic leukaemia. | journal = Br J Haematol | volume = 135 | issue = 4 | pages = 517–9 | year = 2006 | pmid = 17054674 | doi = 10.1111/j.1365-2141.2006.06334.x }}</ref>
Cw*01  
 
*'''Cw1''' Serotype: Cw*0102 and Cw*0109
== Nomenclature ==
*Cw11 ?
 
*Cw*0104 to *0108
C*01  
*'''Cw1''' serotype: C*01:02 and C*01:09
*Cw11
*C*01:04 to *01:08
<br/>
<br/>
Cw*02
C*02
*'''Cw2''' Serotype: Cw*0202 and *0208
*'''Cw2''' serotype: C*02:02 and *02:08
*Cw*0203 to *0207, and 0209
*C*02:03 to *02:07, and 02:09
<br/>
<br/>
Cw*03
C*03
*'''Cw9''' Serotype: Cw*0303
*'''Cw9''' serotype: C*03:03
*'''Cw10''' Serotype: Cw*0302, *0304, and *0306
*'''Cw10''' serotype: C*03:02, *03:04, and *03:06
*'''Cw3''' Serotype: Cw*0307
*'''Cw3''' serotype: C*03:07
*Cw*0305 and 0308
*C*03:05 and 03:08
<br/>
<br/>
Cw*04
C*04
*'''Cw4''' Serotype: Cw*0401, *0407, and *0410
*'''Cw4''' serotype: C*0401, *0407, and *0410
<br/>
<br/>
Cw*05
C*05
*'''Cw5''' Sertoype: Cw*0501 and *0502
*'''Cw5''' serotype: C*05:01 and *05:02
*Cw*0503 to *506 and *0508 to *0510
*C*05:03 to *05:06 and *05:08 to *05:10
<br/>
<br/>
Cw*06
C*06
*'''Cw6''' Serotype: Cw*0602 and *0605
*'''Cw6''' serotype: C*06:02 and *06:05
*Cw6*0603, *0604 and *0606 to *0611
*C*06:03, *06:04 and *06:06 to *06:11
*'''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
<br/>
<br/>
*'''Cw7''' Serotype: Cw*0701 to *0706, *0712, *0714, *0716
C*08
*Cw*0707 to *0711, *0713, *0715, and *0717 to *0729
*'''Cw8''' serotype: C*08:01, *08:02 and *08:03
*C*08:05 to *08:12
<br/>
<br/>
Cw*08
Others
*'''Cw8''' Serotype: Cw*0801, *0802 and *0803
* C*12:02 to *12:15
*Cw*805 to *0812
* C*14:02 to *14:05
<br/>
* C*15:01 to *15:11
Cw*1202 to *1215
* C*16:01 to *16:06
<br/>
* C*17:01 to *17:03
<br/>
* C*18:01 and *18:02
Cw*1402 to *1405
 
<br/>
== Common haplotype ==
<br/>
Cw*1501 to *1511
<br/>
<br/>
Cw*1601 to *1606
<br/>
<br/>
Cw*1701 to *1703
<br/>
<br/>
Cw*1801 and *1802


==Common Haplotype==
Cw4-B35 (Western Africa to Native Americans)   
Cw4-B35 (Western Africa to Native Americans)   
Cw7-B7 (Western Eurasia, South Africa)
Cw7-B7 (Western Eurasia, South Africa)
Line 117: Line 65:
Cw5-B44 (Western Eurasia)
Cw5-B44 (Western Eurasia)


==References==
== Interactions ==
<div class="references-small"><references/></div>


==Further reading==
HLA-C has been shown to [[Protein-protein interaction|interact]] with:
{{refbegin | 2}}
* [[KIR2DL1]],<ref name = pmid12454284>{{cite journal |vauthors=Boyson JE, Erskine R, Whitman MC, Chiu M, Lau JM, Koopman LA, Valter MM, Angelisova P, Horejsi V, Strominger JL | title = Disulfide bond-mediated dimerization of HLA-G on the cell surface | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 99 | issue = 25 | pages = 16180–5 | date = December 2002 | pmid = 12454284 | pmc = 138585 | doi = 10.1073/pnas.212643199 }}</ref><ref name = pmid11163076>{{cite journal |vauthors=Baba E, Erskine R, Boyson JE, Cohen GB, Davis DM, Malik P, Mandelboim O, Reyburn HT, Strominger JL | title = N-linked carbohydrate on human leukocyte antigen-C and recognition by natural killer cell inhibitory receptors | journal = Hum. Immunol. | volume = 61 | issue = 12 | pages = 1202–18 | date = December 2000 | pmid = 11163076 | doi =  10.1016/s0198-8859(00)00184-1}}</ref><ref name = pmid9768753>{{cite journal |vauthors=Valés-Gómez M, Reyburn HT, Mandelboim M, Strominger JL | title = Kinetics of interaction of HLA-C ligands with natural killer cell inhibitory receptors | journal = Immunity | volume = 9 | issue = 3 | pages = 337–44 | date = September 1998 | pmid = 9768753 | doi = 10.1016/s1074-7613(00)80616-0}}</ref><ref name = pmid11323700>{{cite journal |vauthors=Fan QR, Long EO, Wiley DC | title = Crystal structure of the human natural killer cell inhibitory receptor KIR2DL1-HLA-Cw4 complex | journal = Nat. Immunol. | volume = 2 | issue = 5 | pages = 452–60 | date = May 2001 | pmid = 11323700 | doi = 10.1038/87766 }}</ref>
{{PBB_Further_reading
* [[LILRA3]] <ref name = "pmid21270408">{{cite journal |vauthors=Jones DC, Kosmoliaptsis V, Apps R, Lapaque N, Smith I, Kono A, Chang C, Boyle LH, Taylor CJ, Trowsdale J, Allen RL | title = HLA class I allelic sequence and conformation regulate leukocyte Ig-like receptor binding | journal = J. Immunol. | volume = 186 | issue = 5 | pages = 2990–7 | date = March 2011 | pmid = 21270408 | doi = 10.4049/jimmunol.1003078 }}</ref>
| citations =  
* [[Leukocyte immunoglobulin-like receptors|Leukocyte immunoglobulin-like receptor]] family, particularly the activating receptor LILRA1
*{{cite journal | author=Geyer M, Fackler OT, Peterlin BM |title=Structure--function relationships in HIV-1 Nef. |journal=EMBO Rep. |volume=2 |issue= 7 |pages= 580-5 |year= 2001 |pmid= 11463741 |doi= 10.1093/embo-reports/kve141 }}
 
*{{cite journal | author=Greenway AL, Holloway G, McPhee DA, ''et al.'' |title=HIV-1 Nef control of cell signalling molecules: multiple strategies to promote virus replication. |journal=J. Biosci. |volume=28 |issue= 3 |pages= 323-35 |year= 2004 |pmid= 12734410 |doi= }}
== References ==
*{{cite journal | author=Bénichou S, Benmerah A |title=[The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway] |journal=Med Sci (Paris) |volume=19 |issue= 1 |pages= 100-6 |year= 2003 |pmid= 12836198 |doi= }}
{{reflist|2}}
*{{cite journal | author=Leavitt SA, SchOn A, Klein JC, ''et al.'' |title=Interactions of HIV-1 proteins gp120 and Nef with cellular partners define a novel allosteric paradigm. |journal=Curr. Protein Pept. Sci. |volume=5 |issue= 1 |pages= 1-8 |year= 2004 |pmid= 14965316 |doi= }}
 
*{{cite journal | author=Tolstrup M, Ostergaard L, Laursen AL, ''et al.'' |title=HIV/SIV escape from immune surveillance: focus on Nef. |journal=Curr. HIV Res. |volume=2 |issue= 2 |pages= 141-51 |year= 2004 |pmid= 15078178 |doi= }}
== Further reading ==
*{{cite journal | author=Joseph AM, Kumar M, Mitra D |title=Nef: "necessary and enforcing factor" in HIV infection. |journal=Curr. HIV Res. |volume=3 |issue= 1 |pages= 87-94 |year= 2005 |pmid= 15638726 |doi= }}
{{refbegin|2}}
*{{cite journal | author=Anderson JL, Hope TJ |title=HIV accessory proteins and surviving the host cell. |journal=Current HIV/AIDS reports |volume=1 |issue= 1 |pages= 47-53 |year= 2005 |pmid= 16091223 |doi= }}
*{{cite journal |vauthors=Geyer M, Fackler OT, Peterlin BM | title = Structure--function relationships in HIV-1 Nef. | journal = EMBO Rep. | volume = 2 | issue = 7 | pages = 580–5 | year = 2001 | pmid = 11463741 | pmc = 1083955 | doi = 10.1093/embo-reports/kve141 }}
}}
*{{cite journal |vauthors=Greenway AL, Holloway G, McPhee DA, Ellis P, Cornall A, Lidman M | title = HIV-1 Nef control of cell signalling molecules: multiple strategies to promote virus replication. | journal = J. Biosci. | volume = 28 | issue = 3 | pages = 323–35 | year = 2004 | pmid = 12734410 | doi = 10.1007/BF02970151 }}
*{{cite journal |vauthors=Bénichou S, Benmerah A | title = [The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway] | journal = Med Sci (Paris) | volume = 19 | issue = 1 | pages = 100–6 | year = 2003 | pmid = 12836198 | doi = 10.1051/medsci/2003191100 }}
*{{cite journal |vauthors=Leavitt SA, SchOn A, Klein JC, Manjappara U, Chaiken IM, Freire E | title = Interactions of HIV-1 proteins gp120 and Nef with cellular partners define a novel allosteric paradigm. | journal = Curr. Protein Pept. Sci. | volume = 5 | issue = 1 | pages = 1–8 | year = 2004 | pmid = 14965316 | doi = 10.2174/1389203043486955 }}
*{{cite journal |vauthors=Tolstrup M, Ostergaard L, Laursen AL, Pedersen SF, Duch M | title = HIV/SIV escape from immune surveillance: focus on Nef. | journal = Curr. HIV Res. | volume = 2 | issue = 2 | pages = 141–51 | year = 2004 | pmid = 15078178 | doi = 10.2174/1570162043484924 }}
*{{cite journal |vauthors=Joseph AM, Kumar M, Mitra D | title = Nef: "necessary and enforcing factor" in HIV infection. | journal = Curr. HIV Res. | volume = 3 | issue = 1 | pages = 87–94 | year = 2005 | pmid = 15638726 | doi = 10.2174/1570162052773013 }}
*{{cite journal |vauthors=Anderson JL, Hope TJ | title = HIV accessory proteins and surviving the host cell. | journal = Current HIV/AIDS reports | volume = 1 | issue = 1 | pages = 47–53 | year = 2005 | pmid = 16091223 | doi = 10.1007/s11904-004-0007-x }}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=3107}}


==External links==
== External links ==
* [http://tech.groups.yahoo.com/group/DNAanthro/ Molecular Anthropology Yahoo Group]<br />
* [http://tech.groups.yahoo.com/group/DNAanthro/ Molecular Anthropology Yahoo Group]
* [http://www.allelefrequencies.net HLA Allele and Haplotype Frequency Database]<br />
* [http://www.allelefrequencies.net HLA Allele and Haplotype Frequency Database]


{{Surface antigens}}
{{Surface antigens}}
{{HLACW}}
 
[[Category:HLA-C alleles|0]]
[[Category:HLA-C alleles|0]]
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Revision as of 18:52, 17 October 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

HLA-C belongs to the MHC (human = HLA) class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-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 a large number of 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 strong linkage disequilibrium and many are as ancient as the human species itself.

Disease associations

By serotype

Cw1: multinodular goiters[1]

By allele

C*16: B chronic lymphocytic leukemia[2]

Nomenclature

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
  • 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

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

HLA-C has been shown to interact with:

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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. doi:10.1073/pnas.212643199. PMC 138585. PMID 12454284.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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

External links

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