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]
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+  Comparative Toxicogenomics Database (CTD)
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-  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
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-  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
  Alternate Gene Symbols: B0S7Z5, B0S7Z5_HUMAN, BC008457, DAMA-387C9.3-003
UCSC ID: uc011gws.2
RefSeq Accession: NM_002117

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC008457.1
exon count: 8CDS single in 3' UTR: no RNA size: 1574
ORF size: 1119CDS single in intron: no Alignment % ID: 97.79
txCdsPredict score: 2433.00frame shift in genome: no % Coverage: 97.52
has start codon: yes stop codon in genome: no # of Alignments: 7
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

+  Methods, Credits, and Use Restrictions
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