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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 1 and Hemochromatosis, Type 1. Gene Ontology (GO) annotations related to this gene include antigen binding and MHC class I receptor activity. An important paralog of this gene is HFE.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for MR1 Gene

Promoters and enhancers for MR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I181032 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 349 2.4 HDGF PKNOX1 ATF1 SMAD1 ARNT SIN3A BRCA1 YY1 ZNF280A POLR2B MR1 KIAA1614 ENSG00000243155 GC01P181059
GH01I181086 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.9 +59.2 59184 11.6 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 ZNF263 IER5 PIR40361 GC01M181092 GC01P181092 LHX4 MR1 STX6 GC01M181116
GH01I181151 Enhancer 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11.1 +119.4 119442 3.4 HDGF PKNOX1 SMAD1 ARNT IRF4 ZNF766 CBX5 E2F8 ZNF143 FOS IER5 ACBD6 MR1 ENSG00000243155 LINC01732 GC01M181116
GH01I181126 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.9 +96.0 95957 6.2 CLOCK FEZF1 IRF4 ZNF213 E2F8 ZNF548 ZC3H11A MEF2D ZNF610 NBN LHX4 ACBD6 KIAA1614 IER5 MR1 GC01M181116 LINC01732
GH01I181098 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.3 +69.6 69578 8.2 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A YBX1 FEZF1 ZNF2 MR1 LHX4 IER5 XPR1 GC01M181116 GC01M181092
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MR1 gene promoter:

Genomic Locations for MR1 Gene

Genomic Locations for MR1 Gene
chr1:181,033,379-181,061,938
(GRCh38/hg38)
Size:
28,560 bases
Orientation:
Plus strand
chr1:181,002,561-181,031,074
(GRCh37/hg19)

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

Gene Families for MR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins

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.

Phenotypes From GWAS Catalog for MR1 Gene

Gene Ontology (GO) - Molecular Function for MR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

miRNA for MR1 Gene

miRTarBase miRNAs that target MR1

Clone Products

  • Addgene plasmids for MR1

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

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 IBA,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 UniProtKB IID

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
B2M

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
Antithymocyte immunoglobulin (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:

Clone Products

  • Addgene plasmids for MR1

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

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 33 34
  • 98.82 (n)
cow
(Bos Taurus)
Mammalia MR1 33 34
  • 84.28 (n)
mouse
(Mus musculus)
Mammalia Mr1 33 16 34
  • 82.03 (n)
rat
(Rattus norvegicus)
Mammalia Mr1 33
  • 81.64 (n)
oppossum
(Monodelphis domestica)
Mammalia MR1 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 29 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 43 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
-- 34
  • 36 (a)
ManyToMany
BFIV21 34
  • 36 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
-- 34
  • 35 (a)
ManyToMany
BF1 34
  • 35 (a)
ManyToMany
-- 34
  • 34 (a)
ManyToMany
-- 34
  • 32 (a)
ManyToMany
-- 34
  • 31 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 48 (a)
ManyToMany
-- 34
  • 47 (a)
ManyToMany
-- 34
  • 45 (a)
ManyToMany
-- 34
  • 44 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 38 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
-- 34
  • 37 (a)
ManyToMany
-- 34
  • 36 (a)
ManyToMany
-- 34
  • 36 (a)
ManyToMany
-- 34
  • 34 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
-- 34
  • 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 Variation AA Info Type
rs2236410 likely-benign, not specified 181,049,100(+) A/G 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs3863720 likely-benign, not specified 181,049,122(+) G/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, synonymous_variant
rs528551338 uncertain-significance, not specified 181,052,416(+) G/A/T coding_sequence_variant, intron_variant, synonymous_variant
rs879255371 uncertain-significance, not specified 181,050,062(+) G/A/C coding_sequence_variant, intron_variant, missense_variant
rs1000132392 -- 181,047,021(+) G/C/T 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)

Additional Variant Information for MR1 Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for MR1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
paroxysmal nonkinesigenic dyskinesia 1
  • pnkd1
hemochromatosis, type 1
  • hfe1
microscopic colitis
  • colitis, microscopic
- elite association - COSMIC cancer census association via MalaCards
Search MR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Biochemical and biophysical research communications 1998) 2 3 4 22 58
  2. A gene outside the human MHC related to classical HLA class I genes. (PMID: 7624800) Hashimoto K … Kurosawa Y (Science (New York, N.Y.) 1995) 2 3 4 22 58
  3. Novel MHC class I-related molecule MR1 affects MHC class I expression in 293T cells. (PMID: 18068122) Aldemir H (Biochemical and biophysical research communications 2008) 3 4 22 58
  4. Biochemical features of the MHC-related protein 1 consistent with an immunological function. (PMID: 12794138) Miley MJ … Lybarger L (Journal of immunology (Baltimore, Md. : 1950) 2003) 3 4 22 58
  5. Genomics, isoforms, expression, and phylogeny of the MHC class I-related MR1 gene. (PMID: 9780177) Riegert P … Bahram S (Journal of immunology (Baltimore, Md. : 1950) 1998) 3 4 22 58

Products for MR1 Gene

  • Addgene plasmids for MR1

Sources for MR1 Gene