Human Gene HLA-C (uc011gws.2) Description and Page Index
  Description: Homo sapiens major histocompatibility complex, class I, C (HLA-C), transcript variant 1, mRNA.
RefSeq Summary (NM_002117): HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Over one hundred HLA-C alleles have been described [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: chr6_mann_hap4:2,583,421-2,586,798 Size: 3,378 Total Exon Count: 8 Strand: -
Coding Region
   Position: chr6_mann_hap4:2,583,839-2,586,733 Size: 2,895 Coding Exon Count: 8 

Page IndexSequence and LinksGenetic AssociationsCTDMicroarrayRNA Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: HLA-C
CDC HuGE Published Literature: HLA-C
Positive Disease Associations: AIDS progression , Arthritis, Psoriatic , Behcet Syndrome , Diabetes Mellitus, Type 1 , diabetes, type 1 , endometriosis , HIV-1 control , Leprosy , Lupus , Multiple Sclerosis , periodontitis , protein quantitative trait loci , psoriasis , psoriatic arthritis , vitiligo
Related Studies:
  1. AIDS progression
    Limou ,et al. 2009, Genomewide Association Study of an AIDS-Nonprogression Cohort Emphasizes the Role Played by HLA Genes (ANRS Genomewide Association Study 02)., The Journal of infectious diseases 2009 199- 3 : 419-26. [PubMed 19115949]
  2. Arthritis, Psoriatic
    Marketa Fojtikova , et al. Rheumatology international 2009 29(11):1293-9, HLA-Cw*06 class I region rather than MICA is associated with psoriatic arthritis in Czech population., Rheumatology international 2009 29(11):1293-9. [PubMed 19184033]
  3. Arthritis, Psoriatic
    Ulrike Huffmeier et al. Nature genetics 2010, Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis., Nature genetics. [PubMed 20953186]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.7565-0.227 Picture PostScript Text
3' UTR -118.01418-0.282 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

+  Orthologous Genes in Other Species
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-  Descriptions from all associated GenBank mRNAs
  M64258 - Human MHC class I HLA-B mRNA, partial cds.
X02494 - Human interferon-inducible mRNA (cDNA 2A) showing 90% homology with class I histocompatibility antigen.
X86703 - H.sapiens mRNA for heavy chain of HLA-B gene, HLA-B*5802.
AK130592 - Homo sapiens cDNA FLJ27082 fis, clone SPL03377.
M27540 - Human MHC class I HLA-A (A28,-B40,-Cw3) cell surface antigen mRNA, partial cds, clone LB40.
M64258 - Human MHC class I HLA-B mRNA, partial cds.
X07061 - Human M4-111 mRNA for HLA class I antigen.
L20089 - Human MHC class I (HLA-B 4802) mRNA fragment.
AJ506054 - Homo sapiens partial HLA-B gene for MHC class I antigen, HLA-B*51 allele, exon 4.
EU048339 - Homo sapiens MHC class I antigen (HLA-B) mRNA, HLA-B*81novel allele, partial cds.
AJ440716 - Homo sapiens partial mRNA for MHC class I antigen (HLA-C gene, HLA-Cw*07 allele), exons 2 and 3.
D83029 - Homo sapiens mRNA for HLA-Cw*2, partial cds.
D83030 - Homo sapiens HLA-Cw*04011 mRNA for MHC class I antigen, partial cds.
Z47377 - H.sapiens HLA-Cw gene (exon 2-4).
FN662479 - Homo sapiens partial mRNA for MHC class I antigen (HLA-C gene), allele HLA-Cw*01new.
AJ223602 - Homo sapiens HLA-B*07 variant (B*07AE), exons 2 and 3, isolate 980043.
M26429 - Human MHC class I HLA-Cw1 gene, complete cds.
M26430 - Human MHC class I HLA-Cw2 gene, complete cds.
BC010542 - Homo sapiens, clone IMAGE:3459298, mRNA, partial cds.
BC002463 - Homo sapiens major histocompatibility complex, class I, C, mRNA (cDNA clone MGC:2285 IMAGE:3345005), complete cds.
BC004489 - Homo sapiens major histocompatibility complex, class I, C, mRNA (cDNA clone IMAGE:3678099), partial cds.
BC033293 - Homo sapiens major histocompatibility complex, class I, C, mRNA (cDNA clone MGC:24960 IMAGE:4780246), complete cds.
AK024836 - Homo sapiens cDNA: FLJ21183 fis, clone CAS11634, highly similar to HSHLACW07 Homo sapiens mRNA for human leukocyte antigen C alpha chain.
BC041078 - Homo sapiens major histocompatibility complex, class I, C, mRNA (cDNA clone IMAGE:5926397), containing frame-shift errors.
M28206 - Homo sapiens (clone pMS1) MHC class I HLA-Cw6 mRNA, 3' end, haplotype A2/A30,B13,Cw6.
M26712 - Human major histocompatibility class I HLA-Cw2.2 heavy chain mRNA, partial cds.
AK304527 - Homo sapiens cDNA FLJ53134 complete cds, highly similar to HLA class I histocompatibility antigen, Cw-7alpha chain precursor.
BC007814 - Homo sapiens major histocompatibility complex, class I, C, mRNA (cDNA clone IMAGE:4299697), partial cds.
X58536 - Human mRNA for HLA class I locus C heavy chain.
BC008457 - Homo sapiens major histocompatibility complex, class I, C, mRNA (cDNA clone MGC:14707 IMAGE:4249847), complete cds.
M24096 - Human MHC class I HLA-C-alpha-2 chain mRNA, partial cds, clone 9.
M24097 - Human MHC class I HLA-C-alpha-2 chain and alternative mRNA, complete cds, clones 4 and 10.
M28207 - Homo sapiens (clone pMF17) MHC class I HLA-Cw7 mRNA, 3' end, haplotype A1/A2,B8/Bw62,Cw3/Cw7.
M11886 - Human MHC class I HLA-C allele HLA-4, partial cds.
M28160 - Human lymphocyte antigen (HLA CW6) JTW1 mRNA, complete cds, clone JTW1.
M21963 - Human (clone pC68) MHC class I HLA-Cx52 mRNA, 3' end cds.
D12471 - Homo sapiens mRNA for HLA-Cw12, complete cds, allele: HLA-C (Cw*1201).
M12679 - Human Cw1 antigen mRNA, complete cds.
AF196489 - Homo sapiens MHC class I antigen (HLA-C) mRNA, HLA-C-Cw*0409 N allele, complete cds.
AF405691 - Homo sapiens MHC class I antigen heavy chain (HLA-CW) mRNA, HLA-CW*04null allele, complete cds.
AK301283 - Homo sapiens cDNA FLJ54183 complete cds, highly similar to HLA class I histocompatibility antigen, Cw-7 alpha chain precursor.
X67818 - H.sapiens mRNA for HLA-Cw*1502.
X70856 - H.sapiens mRNA for HLA-Cw*12022.
X70857 - H.sapiens mRNA for HLA-Cw*0602.
M24031 - Human MHC class I HLA-Cw11 chain mRNA (A2.4a; B27; Cw11), 3' end.
AB590141 - Synthetic construct DNA, clone: pFN21AE1509, Homo sapiens HLA-C gene for major histocompatibility complex, class I, C, without stop codon, in Flexi system.
AF168611 - Homo sapiens HLA-C class I antigen (HLA-C) mRNA, HLA-Cw*05DZ allele, complete cds.
AJ010748 - Homo sapiens mRNA for HLA-C class I antigen, allele HLA-Cw*050x.
AJ010749 - Homo sapiens mRNA for HLA-C class I antigen, allele HLA-Cw*070x.
AY732487 - Homo sapiens MHC class I antigen (HLA-C) mRNA, complete cds.
D31817 - Homo sapiens mRNA for HLA-C antigen, complete cds.
D38526 - Homo sapiens mRNA for HLA-Cw*0702, complete cds.
D49552 - Homo sapiens mRNA for HLA-Cw*0704, complete cds.
D49819 - Homo sapiens mRNA for HLA-Cw*0702, complete cds.
D50852 - Homo sapiens HLA-Cw*0102 mRNA for MHC class I antigen, complete cds.
D50853 - Homo sapiens HLA-Cw*0303 mRNA for MHC class I antigen, complete cds.
D50854 - Homo sapiens HLA-Cw*0803 mRNA for MHC class I antigen, complete cds.
D64145 - Homo sapiens mRNA for HLA-Cw*0103, complete cds.
D83031 - Homo sapiens HLA-Cw*1502 mRNA for MHC class I antigen, complete cds.
DQ891896 - Synthetic construct clone IMAGE:100004526; FLH181216.01X; RZPDo839B01136D major histocompatibility complex, class I, C (HLA-C) gene, encodes complete protein.
DQ895082 - Synthetic construct Homo sapiens clone IMAGE:100009542; FLH181212.01L; RZPDo839B01135D major histocompatibility complex, class I, C (HLA-C) gene, encodes complete protein.
L38251 - Homo sapiens major histocompatibility complex class I (HLAC) mRNA, complete cds.
M84171 - Human MHC class I (HLA-Cw1.2) mRNA exons 1-7, complete cds.
M84173 - Human MHC class I (HLA-Cw8.2) mRNA exons 1-7, complete cds.
M84174 - Human MHC class I (HLA-Cw8.1) mRNA exons 1-7, complete cds.
M84386 - Human MHC class I lymphocyte antigen (HLA-Cw*0401) mRNA, 5' end.
M99388 - Homo sapiens HLA class I heavy chain (HLA-Cw-1503) mRNA, complete cds.
M99389 - Human MHC class I HLA heavy chain (HLA-Cw-0304) mRNA, complete cds.
M99390 - Human MHC class I HLA heavy chain (HLA-Cw-0303) mRNA, complete cds.
U06487 - Human clone LUY 2/12 MHC class I histocompatibility antigen (HLA-Cw) mRNA, complete cds.
U06695 - Human clone WDV 14/16 MHC class I histocompatibility antigen (HLA-Cw) mRNA, complete cds.
U06696 - Human clone DO208915 6/7 MHC class I histocompatibility antigen (HLA-Cw) mRNA, complete cds.
U09853 - Homo sapiens HLA-Cw7 mRNA, complete cds.
U41386 - Homo sapiens MHC class I antigen HLA-C mRNA (HLA-Cw-1402 allele), complete cds.
U41420 - Homo sapiens MHC class I antigen HLA-C mRNA (HLA-Cw-1603 allele), complete cds.
U57028 - Human HLA class I antigen HLA-Cw mRNA (HLA-Cw*0501new allele), complete cds.
U62824 - Homo sapiens HLA class I heavy chain (HLA-Cw*1701) mRNA, complete cds.
X73518 - H.sapiens mRNA for HLA-C alpha chain (Cw*1504).
X76189 - H. sapiens HLA-Cw*1602 mRNA.
X78343 - H.sapiens mRNA for HLA-Cw*1505.
X82122 - H.sapiens mRNA for HLA-Cw*1203.
X87841 - H.sapiens mRNA for HLA-C alpha chain (allele Cw*15052).
X96582 - H.sapiens mRNA for HLA-C alpha chain.
X97321 - H.sapiens mRNA for human leukocyte antigen C alpha chain.
X98742 - H.sapiens mRNA for HLA-C alpha chain (Cw*17).
Y09156 - H.sapiens mRNA for HLA-C antigen alpha chain (Cw*18GB).
Y10520 - H.sapiens mRNA for HLA-C alpha chain (Cw*1701).
Y11843 - H.sapiens mRNA for MHC class I human leukocyte antigen, allele HLA-Cw*12042.
Z15144 - H.sapiens mRNA for MHC class I HLA-Cw*0803 (partial).
Z83247 - H.sapiens mRNA for human leukocyte antigen-C (allele Cw*1205).
X83394 - H.sapiens mRNA for HLA-Cw*0704.
L20091 - Human MHC class I (HLA-C w1502) mRNA fragment.
S74115 - Homo sapiens MHC class I antigen (HLA-Cw2) mRNA, partial cds.
S74116 - Homo sapiens MHC class I antigen (HLA-Cw2) mRNA, partial cds.
D49820 - Homo sapiens Cw*1402 mRNA for MHC class I antigen, partial cds.
AM237285 - Homo sapiens partial mRNA for MHC class I antigen (HLA-C gene), HLA-Cw*07x05 hybrid allele.
D64146 - Homo sapiens mRNA for HLA-Cw*1203, partial cds.
D64147 - Homo sapiens mRNA for HLA-Cw*0602, partial cds.
D64148 - Homo sapiens mRNA for HLA-Cw5, partial cds.
D64150 - Homo sapiens mRNA for HLA-Cw*0304, partial cds.
D64151 - Homo sapiens mRNA for HLA-Cw*0801, partial cds.
D64152 - Homo sapiens mRNA for HLA-Cw*12022, partial cds.
U06835 - Human clone RSH 34 MHC class I HLA-Cw mRNA, partial cds.
Z33459 - H.sapiens mRNA for MHC class I HLA-C allele.
CU675811 - Synthetic construct Homo sapiens gateway clone IMAGE:100023339 5' read HLA-C mRNA.
U07230 - Human MHC class I HLA-Cw mRNA, partial cds.
AJ005199 - Homo sapiens HLA-Cw*03MAC gene, exons 2 and 3.
D83741 - Homo sapiens HLA-Cw*12022 mRNA for MHC class I antigen, partial cds.
HM989018 - Homo sapiens MHC class I antigen (HLA-B) mRNA, HLA-B*55 variant allele, partial cds.
Z46809 - H.sapiens HLA-Cw*0102 mRNA for HLA-Cw1.
AJ537578 - Homo sapiens partial mRNA for MHC class I antigen (HLA-C gene), HLA-Cw*16 allele.
Z46810 - H.sapiens HLA-Cw*0701 mRNA for HLA-Cw7.
M64255 - Human MHC class I HLA-A mRNA, partial cds.
M64256 - Human MHC class I HLA-B mRNA, partial cds.
M64259 - Human MHC class I HLA-A mRNA, partial cds.
DQ585628 - Homo sapiens piRNA piR-52740, complete sequence.
DQ580344 - Homo sapiens piRNA piR-48456, complete sequence.
DQ579752 - Homo sapiens piRNA piR-47864, complete sequence.
DQ600446 - Homo sapiens piRNA piR-38512, complete sequence.
JN887337 - Homo sapiens MHC class I antigen (HLA-C) mRNA, HLA-C08:22-like allele, partial cds.
HG327117 - Homo sapiens mRNA for MHC class I antigen (HLA-B gene), isolate 12762, allele HLA-B*55:11.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis
hsa04514 - Cell adhesion molecules (CAMs)
hsa04612 - Antigen processing and presentation
hsa04650 - Natural killer cell mediated cytotoxicity
hsa04940 - Type I diabetes mellitus
hsa05320 - Autoimmune thyroid disease
hsa05330 - Allograft rejection
hsa05332 - Graft-versus-host disease
hsa05416 - Viral myocarditis

+  Other Names for This Gene
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+  Gene Model Information
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+  Methods, Credits, and Use Restrictions
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