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Aliases for MR1 Gene

Aliases for MR1 Gene

  • Major Histocompatibility Complex, Class I-Related 2 3 5
  • Major Histocompatibility Complex, Class I-Like Sequence 2 3
  • Major Histocompatibility Complex Class I-Related Gene Protein 3
  • Class I Histocompatibility Antigen-Like Protein 4
  • MHC Class-I Related-Gene Protein 3
  • MHC Class I-Related Gene Protein 4
  • MHC Class I-Like Antigen MR-1 3
  • HLALS 3

External Ids for MR1 Gene

Previous HGNC Symbols for MR1 Gene

  • HLALS

Previous GeneCards Identifiers for MR1 Gene

  • GC01P176431
  • GC01P177523
  • GC01P178242
  • GC01P177734
  • GC01P179269
  • GC01P152233

Summaries for MR1 Gene

Entrez Gene Summary for MR1 Gene

  • MAIT (mucosal-associated invariant T-cells) lymphocytes represent a small population of T-cells primarily found in the gut. The protein encoded by this gene is an antigen-presenting molecule that presents metabolites of microbial vitamin B to MAITs. This presentation may activate the MAITs to regulate the amounts of specific types of bacteria in the gut. Several transcript variants encoding different isoforms have been found for this gene, and a pseudogene of it has been detected about 36 kbp upstream on the same chromosome. [provided by RefSeq, Jul 2015]

GeneCards Summary for MR1 Gene

MR1 (Major Histocompatibility Complex, Class I-Related) is a Protein Coding gene. Diseases associated with MR1 include Paroxysmal Nonkinesigenic Dyskinesia and Hemochromatosis. GO annotations related to this gene include antigen binding and MHC class I receptor activity. An important paralog of this gene is HLA-C.

UniProtKB/Swiss-Prot for MR1 Gene

  • Antigen-presenting molecule specialized in presenting microbial vitamin B metabolites. Involved in the development and expansion of a small population of T-cells expressing an invariant T-cell receptor alpha chain called mucosal-associated invariant T-cells (MAIT). MAIT lymphocytes are preferentially located in the gut lamina propria and therefore may be involved in monitoring commensal flora or serve as a distress signal. Expression and MAIT cell recognition seem to be ligand-dependent.

Gene Wiki entry for MR1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MR1 Gene

Genomics for MR1 Gene

Regulatory Elements for MR1 Gene

Enhancers for MR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G181151 2.5 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11 +119.4 119443 3.4 HDGF PKNOX1 CREB3L1 ARNT ZNF766 CBX5 ZNF143 FOS KLF13 JUNB IER5 MR1 ENSG00000243155 LINC01732 GC01M181116
GH01G181086 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.9 +59.2 59184 11.6 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 IER5 MR1 ACBD6 KIAA1614 LHX4 STX6 GC01M181092 GC01M181116
GH01G181126 2 FANTOM5 Ensembl ENCODE dbSUPER 12.9 +96.0 95958 6.2 FEZF1 ZNF548 ZNF263 TBX21 MEF2D ZNF610 GLIS1 NBN NR2C1 KDM1A ACBD6 LHX4 KIAA1614 IER5 MR1 GC01M181116 LINC01732
GH01G181098 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +69.6 69578 8.2 HDGF PKNOX1 FOXA2 ARNT AGO1 WRNIP1 ARID4B SIN3A YBX1 FEZF1 MR1 ACBD6 IER5 XPR1 GC01M181116 GC01M181092
GH01G181159 1.6 FANTOM5 Ensembl ENCODE 12.1 +127.2 127215 3.2 HDGF PKNOX1 ARNT FOS ZNF548 MCM5 JUNB REST TBX21 MEF2D IER5 MR1 ACBD6 KIAA1614 STX6 LINC01732 GC01M181116
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MR1 on UCSC Golden Path with GeneCards custom track

Promoters for MR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000016605 721 1001 HDGF PKNOX1 FOXA2 ATF1 CREB3L1 ARNT SIN3A BRCA1 YY1 ZNF766

Genomic Location for MR1 Gene

Chromosome:
1
Start:
181,033,379 bp from pter
End:
181,061,938 bp from pter
Size:
28,560 bases
Orientation:
Plus strand

Genomic View for MR1 Gene

Genes around MR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MR1 Gene

Proteins for MR1 Gene

  • Protein details for MR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q95460-HMR1_HUMAN
    Recommended name:
    Major histocompatibility complex class I-related gene protein
    Protein Accession:
    Q95460
    Secondary Accessions:
    • A8K2V9
    • B4E3B1
    • O97985
    • O97986
    • Q53GM1
    • Q95HB8
    • Q9MY23
    • Q9NPL2
    • Q9TQB3
    • Q9TQB9
    • Q9TQK3

    Protein attributes for MR1 Gene

    Size:
    341 amino acids
    Molecular mass:
    39366 Da
    Quaternary structure:
    • Heterodimerizes with B2M, this interaction is required for surface expression. Associated with the peptide-loading complex, TAPBP, CALR and PDIA3. Isoform 3/MR1B homodimerizes and doesnt associates with B2M nor proteins of the peptide-loading complex.
    Miscellaneous:
    • MR1 is detected in an open versus folded conformation. Only the folded MR1 conformer activates MAIT cells.
    SequenceCaution:
    • Sequence=AAD01443.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MR1 Gene

    Alternative splice isoforms for MR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MR1 Gene

Post-translational modifications for MR1 Gene

No data available for DME Specific Peptides for MR1 Gene

Domains & Families for MR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q95460

UniProtKB/Swiss-Prot:

HMR1_HUMAN :
  • The alpha-3 region and to a lesser extent the transmembrane and cytosolic domains regulate surface expression. The alpha-3 region mediates interaction with B2M (PubMed:23051753).
  • Belongs to the MHC class I family.
Domain:
  • The alpha-3 region and to a lesser extent the transmembrane and cytosolic domains regulate surface expression. The alpha-3 region mediates interaction with B2M (PubMed:23051753).
  • The ligand-binding groove is ideally suited to present small organic compounds that can originate from vitamins rather than antigenic peptides.
Family:
  • Belongs to the MHC class I family.
genes like me logo Genes that share domains with MR1: view

Function for MR1 Gene

Molecular function for MR1 Gene

UniProtKB/Swiss-Prot Function:
Antigen-presenting molecule specialized in presenting microbial vitamin B metabolites. Involved in the development and expansion of a small population of T-cells expressing an invariant T-cell receptor alpha chain called mucosal-associated invariant T-cells (MAIT). MAIT lymphocytes are preferentially located in the gut lamina propria and therefore may be involved in monitoring commensal flora or serve as a distress signal. Expression and MAIT cell recognition seem to be ligand-dependent.

Gene Ontology (GO) - Molecular Function for MR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding IBA --
GO:0005515 protein binding IPI 25416956
GO:0032393 MHC class I receptor activity TAS 7624800
genes like me logo Genes that share ontologies with MR1: view
genes like me logo Genes that share phenotypes with MR1: view

Animal Models for MR1 Gene

MGI Knock Outs for MR1:

Animal Model Products

  • Taconic Biosciences Mouse Models for MR1

CRISPR Products

miRNA for MR1 Gene

miRTarBase miRNAs that target MR1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MR1 Gene

Localization for MR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MR1 Gene

Cell membrane; Single-pass membrane protein; Extracellular side. Endoplasmic reticulum.
Isoform 4: Secreted.
Isoform 3: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane. Note=The larger proportion remains in the ER in an immature state. The subset that reach cell surface does it through a B2M-independent pathway.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MR1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5

Gene Ontology (GO) - Cellular Components for MR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum IDA 21190736
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MR1: view

Pathways & Interactions for MR1 Gene

No Data Available

Interacting Proteins for MR1 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000356552%0d%0a9606.ENSP00000452780%0d%0a9606.ENSP00000431254%0d%0a9606.ENSP00000331172%0d%0a9606.ENSP00000385361%0d%0a9606.ENSP00000403609%0d%0a
Selected Interacting proteins: ENSP00000356552 Q95460-HMR1_HUMAN for MR1 Gene via STRING IID UniProtKB

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
AZGP1

Gene Ontology (GO) - Biological Process for MR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002367 cytokine production involved in immune response IEA --
GO:0002376 immune system process IEA --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I IEA --
GO:0006955 immune response TAS 7624800
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with MR1: view

No data available for Pathways by source and SIGNOR curated interactions for MR1 Gene

Drugs & Compounds for MR1 Gene

(4) Drugs for MR1 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anti-thymocyte Globulin (Rabbit) Approved Pharma Target, antagonist 0
antithymocyte globulin Pharma binder 0
genes like me logo Genes that share compounds with MR1: view

Transcripts for MR1 Gene

Unigene Clusters for MR1 Gene

Major histocompatibility complex, class I-related:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MR1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: -
SP3:

Relevant External Links for MR1 Gene

GeneLoc Exon Structure for
MR1
ECgene alternative splicing isoforms for
MR1

Expression for MR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MR1 Gene

Protein differential expression in normal tissues from HIPED for MR1 Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MR1 Gene



Protein tissue co-expression partners for MR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MR1 Gene:

MR1

SOURCE GeneReport for Unigene cluster for MR1 Gene:

Hs.13500

mRNA Expression by UniProt/SwissProt for MR1 Gene:

Q95460-HMR1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MR1 Gene

  • Kidney(4.2)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with MR1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MR1 Gene

Orthologs for MR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MR1 34 35
  • 98.82 (n)
cow
(Bos Taurus)
Mammalia MR1 34 35
  • 84.28 (n)
mouse
(Mus musculus)
Mammalia Mr1 34 16 35
  • 82.03 (n)
rat
(Rattus norvegicus)
Mammalia Mr1 34
  • 81.64 (n)
oppossum
(Monodelphis domestica)
Mammalia MR1 35
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 29 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 43 (a)
ManyToMany
-- 35
  • 39 (a)
ManyToMany
-- 35
  • 39 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
-- 35
  • 36 (a)
ManyToMany
BFIV21 35
  • 36 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
-- 35
  • 35 (a)
ManyToMany
BF1 35
  • 35 (a)
ManyToMany
-- 35
  • 34 (a)
ManyToMany
-- 35
  • 32 (a)
ManyToMany
-- 35
  • 31 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 48 (a)
ManyToMany
-- 35
  • 47 (a)
ManyToMany
-- 35
  • 45 (a)
ManyToMany
-- 35
  • 44 (a)
ManyToMany
-- 35
  • 39 (a)
ManyToMany
-- 35
  • 39 (a)
ManyToMany
-- 35
  • 39 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
-- 35
  • 36 (a)
ManyToMany
-- 35
  • 36 (a)
ManyToMany
-- 35
  • 34 (a)
ManyToMany
-- 35
  • 33 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
Species where no ortholog for MR1 was found in the sources mined by GeneCards:
  • 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)
  • dog (Canis familiaris)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • zebrafish (Danio rerio)

Evolution for MR1 Gene

ENSEMBL:
Gene Tree for MR1 (if available)
TreeFam:
Gene Tree for MR1 (if available)

Paralogs for MR1 Gene

Paralogs for MR1 Gene

Pseudogenes.org Pseudogenes for MR1 Gene

genes like me logo Genes that share paralogs with MR1: view

Variants for MR1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MR1 Gene

HMR1_HUMAN-Q95460
Several individuals from different ethnic background were analyzed for polymorphism. MR1 was identical in all individuals analyzed, except one. MR1 is not polymorphic.

Sequence variations from dbSNP and Humsavar for MR1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2236410 Likely benign 181,049,100(-) CCCCA(C/T)GGATG intron-variant, reference, missense, utr-variant-5-prime
rs3863720 Likely benign 181,049,122(-) CCAAC(C/T)GAAAT intron-variant, reference, synonymous-codon, utr-variant-5-prime
rs528551338 Uncertain significance 181,052,416(+) CAGGC(A/G/T)TGGGC intron-variant, reference, synonymous-codon
rs879255371 Uncertain significance 181,050,062(+) TGGAA(A/G)CACCA intron-variant, reference, missense
rs1000132392 -- 181,047,021(+) TCCAC(C/G/T)GCTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MR1 Gene

Variant ID Type Subtype PubMed ID
esv2719940 CNV deletion 23290073
esv3890804 CNV gain 25118596
esv993520 CNV deletion 20482838
nsv819813 CNV loss 19587683
nsv946529 CNV duplication 23825009

Variation tolerance for MR1 Gene

Residual Variation Intolerance Score: 77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.83; 34.44% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MR1 Gene

Human Gene Mutation Database (HGMD)
MR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MR1

Disorders for MR1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MR1 Gene - From: OMIM, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
paroxysmal nonkinesigenic dyskinesia
  • paroxysmal non-kinesigenic dyskinesia
hemochromatosis
  • hfe hemochromatosis, modifier of
microscopic colitis
  • colitis, microscopic
- elite association - COSMIC cancer census association via MalaCards
Search MR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MR1

Genetic Association Database (GAD)
MR1
Human Genome Epidemiology (HuGE) Navigator
MR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MR1
genes like me logo Genes that share disorders with MR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MR1 Gene

Publications for MR1 Gene

  1. Expanded genomic organization of conserved mammalian MHC class I- related genes, human MR1 and its murine ortholog. (PMID: 9784382) Yamaguchi H. … Hashimoto K. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 22 64
  2. A gene outside the human MHC related to classical HLA class I genes. (PMID: 7624800) Hashimoto K. … Kurosawa Y. (Science 1995) 2 3 4 22 64
  3. Novel MHC class I-related molecule MR1 affects MHC class I expression in 293T cells. (PMID: 18068122) Aldemir H. (Biochem. Biophys. Res. Commun. 2008) 3 4 22 64
  4. Biochemical features of the MHC-related protein 1 consistent with an immunological function. (PMID: 12794138) Miley M.J. … Lybarger L. (J. Immunol. 2003) 3 4 22 64
  5. Genomics, isoforms, expression, and phylogeny of the MHC class I- related MR1 gene. (PMID: 9780177) Riegert P. … Bahram S. (J. Immunol. 1998) 3 4 22 64

Products for MR1 Gene

Sources for MR1 Gene

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