Human Gene HLA-DMA (uc011hfo.1) Description and Page Index
  Description: Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.
RefSeq Summary (NM_006120): HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC011447.1, X62744.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025087, ERS025093 [ECO:0000348] ##Evidence-Data-END##
Transcript (Including UTRs)
   Position: chr6_mann_hap4:4,373,602-4,378,111 Size: 4,510 Total Exon Count: 5 Strand: -
Coding Region
   Position: chr6_mann_hap4:4,373,855-4,378,025 Size: 4,171 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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+  Comments and Description Text from UniProtKB
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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: HLA-DMA
CDC HuGE Published Literature: HLA-DMA
Positive Disease Associations: antiphospholipid syndrome , Body Composition , Heart Rate , lupus erythematosus , rheumatoid arthritis , systemic lupus erythematosus
Related Studies:
  1. antiphospholipid syndrome
    Sanchez, M. L. et al. 2004, Association of HLA-DM polymorphism with the production of antiphospholipid antibodies., Annals of the rheumatic diseases. 2004 Dec;63(12):1645-8. [PubMed 15547089]
    The results suggest that HLA-DMA*0102 or its linked gene(s) form one of the genetic risks for the production of aPL.
  2. Body Composition
    , , . [PubMed 0]
  3. Heart Rate
    , , . [PubMed 0]
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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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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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+  mRNA Secondary Structure of 3' and 5' UTRs
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+  Protein Domain and Structure Information
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
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-  Descriptions from all associated GenBank mRNAs
  X62744 - Human RING6 mRNA for HLA class II alpha chain-like product.
BC026279 - Homo sapiens major histocompatibility complex, class II, DM alpha, mRNA (cDNA clone MGC:23886 IMAGE:4703588), complete cds.
BC011447 - Homo sapiens major histocompatibility complex, class II, DM alpha, mRNA (cDNA clone MGC:13532 IMAGE:4245221), complete cds.
AK291858 - Homo sapiens cDNA FLJ75740 complete cds, highly similar to Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.
AB590209 - Synthetic construct DNA, clone: pFN21AE1343, Homo sapiens HLA-DMA gene for major histocompatibility complex, class II, DM alpha, without stop codon, in Flexi system.
CR450324 - Homo sapiens full open reading frame cDNA clone RZPDo834G061D for gene HLA-DMA, major histocompatibility complex, class II, DM alpha; complete cds; without stopcodon.
DQ892839 - Synthetic construct clone IMAGE:100005469; FLH190182.01X; RZPDo839F0675D major histocompatibility complex, class II, DM alpha (HLA-DMA) gene, encodes complete protein.
DQ896086 - Synthetic construct Homo sapiens clone IMAGE:100010546; FLH190178.01L; RZPDo839F0665D major histocompatibility complex, class II, DM alpha (HLA-DMA) gene, encodes complete protein.
CU679934 - Synthetic construct Homo sapiens gateway clone IMAGE:100023355 5' read HLA-DMA mRNA.
AK298081 - Homo sapiens cDNA FLJ51553 complete cds, highly similar to HLA class II histocompatibility antigen, DMalpha chain precursor.
AK310162 - Homo sapiens cDNA, FLJ17204.

+  Biochemical and Signaling Pathways
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+  Other Names for This Gene
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-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_006120.3
exon count: 5CDS single in 3' UTR: no RNA size: 1122
ORF size: 786CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1772.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 8
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.