Human Gene HLA-DMA (uc003ocm.2) 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 :: SRR5189664.121619.1, SRR5189655.179218.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2144333 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000374843.9/ ENSP00000363976.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr6:32,916,391-32,920,899 Size: 4,509 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr6:32,916,641-32,920,813 Size: 4,173 Coding Exon Count: 5
ID:Q31604_HUMAN DESCRIPTION: SubName: Full=DMA protein; SubName: Full=HLA-DMA protein; SubName: Full=Major histocompatibility complex class II DM alpha; SubName: Full=Major histocompatibility complex, class II, DM alpha; SubName: Full=Major histocompatibility complex, class II, DM alpha, isoform CRA_c; SubName: Full=cDNA FLJ75740, highly similar to Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA; SIMILARITY: Belongs to the MHC class II family. SIMILARITY: Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
Genetic Association Studies of Complex Diseases and Disorders
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.
The results suggest that HLA-DMA*0102 or its linked gene(s) form one of the genetic risks for the production of aPL.
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.
ModBase Predicted Comparative 3D Structure on Q31604
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Biological Process: GO:0002376 immune system process GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0006955 immune response GO:0019882 antigen processing and presentation
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. JD426091 - Sequence 407115 from Patent EP1572962. JD354564 - Sequence 335588 from Patent EP1572962. JD382219 - Sequence 363243 from Patent EP1572962. 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. KJ896975 - Synthetic construct Homo sapiens clone ccsbBroadEn_06369 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
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04514 - Cell adhesion molecules (CAMs) hsa04612 - Antigen processing and presentation hsa04672 - Intestinal immune network for IgA production hsa04940 - Type I diabetes mellitus hsa05140 - Leishmaniasis hsa05310 - Asthma hsa05320 - Autoimmune thyroid disease hsa05322 - Systemic lupus erythematosus hsa05330 - Allograft rejection hsa05332 - Graft-versus-host disease hsa05416 - Viral myocarditis