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Aliases for HLA-DMA Gene

Aliases for HLA-DMA Gene

  • Major Histocompatibility Complex, Class II, DM Alpha 2 3
  • RING6 3 4 6
  • Really Interesting New Gene 6 Protein 3 4
  • MHC Class II Antigen DMA 3 4
  • DMA 3 4
  • HLA Class II Histocompatibility Antigen, DM Alpha Chain 3
  • Class II Histocompatibility Antigen, M Alpha Chain 3
  • D6S222E 3
  • HLADM 3

External Ids for HLA-DMA Gene

Summaries for HLA-DMA Gene

Entrez Gene Summary for HLA-DMA Gene

  • 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]

GeneCards Summary for HLA-DMA Gene

HLA-DMA (Major Histocompatibility Complex, Class II, DM Alpha) is a Protein Coding gene. Diseases associated with HLA-DMA include cardiac sarcoidosis and measles. Among its related pathways are Class I MHC mediated antigen processing and presentation and GPCR Pathway. An important paralog of this gene is HLA-DQB2.

UniProtKB/Swiss-Prot for HLA-DMA Gene

  • Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.

Gene Wiki entry for HLA-DMA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-DMA Gene

Genomics for HLA-DMA Gene

Genomic Location for HLA-DMA Gene

Start:
32,948,613 bp from pter
End:
32,969,094 bp from pter
Size:
20,482 bases
Orientation:
Minus strand

Genomic View for HLA-DMA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HLA-DMA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for HLA-DMA Gene

Proteins for HLA-DMA Gene

  • Protein details for HLA-DMA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28067-DMA_HUMAN
    Recommended name:
    HLA class II histocompatibility antigen, DM alpha chain
    Protein Accession:
    P28067
    Secondary Accessions:
    • Q29639
    • Q29640

    Protein attributes for HLA-DMA Gene

    Size:
    261 amino acids
    Molecular mass:
    29194 Da
    Quaternary structure:
    • Heterodimer of an alpha chain (DMA) and a beta chain (DMB).

    Three dimensional structures from OCA and Proteopedia for HLA-DMA Gene

neXtProt entry for HLA-DMA Gene

Proteomics data for HLA-DMA Gene at MOPED

Post-translational modifications for HLA-DMA Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn41

Other Protein References for HLA-DMA Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for HLA-DMA Gene

Domains for HLA-DMA Gene

Gene Families for HLA-DMA Gene

HGNC:
  • C1SET :Immunoglobulin superfamily / C1-set domain containing
  • HLA :Histocompatibility complex

UniProtKB/Swiss-Prot:

DMA_HUMAN
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.:
    • P28067
Family:
  • Belongs to the MHC class II family.:
    • P28067
genes like me logo Genes that share domains with HLA-DMA: view

Function for HLA-DMA Gene

Molecular function for HLA-DMA Gene

GENATLAS Biochemistry: HLA-DM,alpha chain,class II related,expressed in B cell lysosomes,same as RING6
UniProtKB/Swiss-Prot Function: Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.

Gene Ontology (GO) - Molecular Function for HLA-DMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0023026 MHC class II protein complex binding IDA 22733780
genes like me logo Genes that share ontologies with HLA-DMA: view
genes like me logo Genes that share phenotypes with HLA-DMA: view

Animal Models for HLA-DMA Gene

MGI Knock Outs for HLA-DMA:

miRNA for HLA-DMA Gene

miRTarBase miRNAs that target HLA-DMA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HLA-DMA Gene

Localization for HLA-DMA Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-DMA Gene

Late endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane protein. Note=Localizes to late endocytic compartment. Associates with lysosome membranes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HLA-DMA Gene COMPARTMENTS Subcellular localization image for HLA-DMA gene
Compartment Confidence
endosome 5
lysosome 5
vacuole 5
plasma membrane 3
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for HLA-DMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005764 lysosome --
GO:0005765 lysosomal membrane TAS --
GO:0005770 late endosome --
GO:0005771 multivesicular body IEA --
genes like me logo Genes that share ontologies with HLA-DMA: view

Pathways for HLA-DMA Gene

genes like me logo Genes that share pathways with HLA-DMA: view

Gene Ontology (GO) - Biological Process for HLA-DMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I --
GO:0002503 peptide antigen assembly with MHC class II protein complex IDA 22733780
GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II --
GO:0006461 protein complex assembly --
GO:0006955 immune response --
genes like me logo Genes that share ontologies with HLA-DMA: view

Compounds for HLA-DMA Gene

(5) Novoseek inferred chemical compound relationships for HLA-DMA Gene

Compound -log(P) Hits PubMed IDs
oligonucleotide 3.45 3
hydrogen 0.727 5
tyrosine 0 3
leucine 0 1
histidine 0 1
genes like me logo Genes that share compounds with HLA-DMA: view

Transcripts for HLA-DMA Gene

Unigene Clusters for HLA-DMA Gene

Major histocompatibility complex, class II, DM alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-DMA Gene

No ASD Table

Relevant External Links for HLA-DMA Gene

GeneLoc Exon Structure for
HLA-DMA
ECgene alternative splicing isoforms for
HLA-DMA

Expression for HLA-DMA Gene

mRNA expression in normal human tissues for HLA-DMA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HLA-DMA Gene

This gene is overexpressed in Spleen (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for HLA-DMA Gene

SOURCE GeneReport for Unigene cluster for HLA-DMA Gene Hs.728759

genes like me logo Genes that share expressions with HLA-DMA: view

Orthologs for HLA-DMA Gene

This gene was present in the common ancestor of chordates.

Orthologs for HLA-DMA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HLA-DMA 37
  • 98 (a)
OneToOne
MAMU-DMA 36
  • 98.72 (n)
  • 97.7 (a)
cow
(Bos Taurus)
Mammalia BOLA-DMA 36
  • 83.53 (n)
  • 78.38 (a)
BOLA-DMA 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DLA-DMA 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia H2-DMa 36
  • 79.95 (n)
  • 75.86 (a)
H2-DMa 16
H2-DMa 37
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MODO-DMA 37
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMA1 36
  • 53.54 (n)
  • 39.38 (a)
DMA 37
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HLA-DMA 37
  • 45 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:zfos-2070c2.1 37
  • 25 (a)
ManyToMany
Species with no ortholog for HLA-DMA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HLA-DMA Gene

ENSEMBL:
Gene Tree for HLA-DMA (if available)
TreeFam:
Gene Tree for HLA-DMA (if available)

Paralogs for HLA-DMA Gene

genes like me logo Genes that share paralogs with HLA-DMA: view

Variants for HLA-DMA Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-DMA Gene

P28067-DMA_HUMAN
The following alleles of DMA are known: DMA*01:01, DMA*01:02, DMA*01:03 (DMA3.2) and DMA*01:04 (DMA3.4). The sequence shown is that of DMA*01:01

Sequence variations from dbSNP and Humsavar for HLA-DMA Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs10679 -- 32,948,778(-) ATCTC(C/T)TCTTA utr-variant-3-prime
rs129654 -- 32,948,922(-) AGAAG(A/G)AGGAG intron-variant
rs150358 -- 32,951,747(+) aacat(A/G)atgaa intron-variant
rs150359 -- 32,954,291(+) ataat(A/T)agagg upstream-variant-2KB
rs150360 -- 32,954,301(+) gaggc(A/G)gagga upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HLA-DMA Gene

Variant ID Type Subtype PubMed ID
nsv830633 CNV Loss 17160897
nsv483081 CNV Loss 15286789
dgv1937e1 CNV Complex 17122850

Relevant External Links for HLA-DMA Gene

HapMap Linkage Disequilibrium report
HLA-DMA
Locus Specific Mutation Databases (LSDB)
HLA-DMA

Disorders for HLA-DMA Gene

(16) Novoseek inferred disease relationships for HLA-DMA Gene

Disease -log(P) Hits PubMed IDs
hla-do 97.7 49
autoimmune diseases 41.4 1
rheumatoid arthritis 32.4 18
autoimmunity 25.7 2
genetic susceptibility 25 4

Relevant External Links for HLA-DMA

Genetic Association Database (GAD)
HLA-DMA
Human Genome Epidemiology (HuGE) Navigator
HLA-DMA
genes like me logo Genes that share disorders with HLA-DMA: view

No data available for UniProtKB/Swiss-Prot for HLA-DMA Gene

Publications for HLA-DMA Gene

  1. The structure of HLA-DM, the peptide exchange catalyst that loads antigen onto class II MHC molecules during antigen presentation. (PMID: 9768757) Mosyak L. … Wiley D.C. (Immunity 1998) 3 4 23
  2. Polymorphisms of TAP, LMP and HLA-DM genes in the Chinese. (PMID: 11775239) Zhu X. … Wang F. (Chin. Med. J. 2000) 3 23 49
  3. HLA DMA and DMB show no association with rheumatoid arthritis in US Caucasians. (PMID: 11881821) Moxley G. … Han J. (Eur. J. Immunogenet. 2001) 3 23 49
  4. Association of TAP and HLA-DM genes with psoriasis in Koreans. (PMID: 12648225) Pyo C.W. … Kim T.G. (J. Invest. Dermatol. 2003) 3 23 49
  5. Lack of association between transporter associated with antigen processing (TAP) and HLA-DM gene polymorphisms and antibody levels following measles vaccination. (PMID: 12786997) Dhiman N. … Poland G.A. (Eur. J. Immunogenet. 2003) 3 23 49

Products for HLA-DMA Gene

Sources for HLA-DMA Gene

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