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 vari... See more...

Aliases for MR1 Gene

Aliases for MR1 Gene

  • Major Histocompatibility Complex, Class I-Related 2 3 5
  • Major Histocompatibility Complex Class I-Related Gene Protein 3 4
  • Major Histocompatibility Complex, Class I-Like Sequence 2 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
  • MR1 5

External Ids for MR1 Gene

Previous HGNC Symbols for MR1 Gene

  • HLALS

Previous GeneCards Identifiers for MR1 Gene

  • GC01P176431
  • GC01P177523
  • GC01P178242
  • GC01P177734
  • GC01P179269
  • GC01P181003
  • 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 Microscopic Colitis and Familial Febrile Seizures. Gene Ontology (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 Summary for MR1 Gene

  • Antigen-presenting molecule specialized in displaying microbial pyrimidine-based metabolites to alpha-beta T cell receptors (TCR) on innate-type mucosal-associated invariant T (MAIT) cells (PubMed:23051753, PubMed:26795251, PubMed:12794138, PubMed:19416870, PubMed:22692454, PubMed:23846752). In complex with B2M preferentially presents riboflavin-derived metabolites to semi-invariant TRAV1-2 TCRs on MAIT cells, guiding immune surveillance of the microbial metabolome at mucosal epithelial barriers (PubMed:26795251, PubMed:24695216, PubMed:20581831). Signature pyrimidine-based microbial antigens are generated via non-enzymatic condensation of metabolite intermediates of the riboflavin pathway with by-products arising from other metabolic pathways such as glycolysis. Typical potent antigenic metabolites are 5-(2-oxoethylideneamino)-6-D-ribitylaminouracil (5-OE-RU) and 5-(2-oxopropylideneamino)-6-D-ribitylaminouracil (5-OP-RU), products of condensation of 5-amino-6-D-ribityaminouracil (5-A-RU) with glyoxal or methylglyoxal by-products, respectively (PubMed:24695216). May present microbial antigens to various TRAV1-2-negative MAIT cell subsets, providing for unique recognition of diverse microbes, including pathogens that do not synthesize riboflavin (PubMed:27527800, PubMed:31113973). Upon antigen recognition, elicits rapid innate-type MAIT cell activation to eliminate pathogenic microbes by directly killing infected cells (PubMed:24695216, PubMed:27527800, PubMed:23846752). During T cell development, drives thymic selection and post-thymic terminal differentiation of MAIT cells in a process dependent on commensal microflora (By similarity). Acts as an immune sensor of cancer cell metabolome (PubMed:31959982). May present a tumor-specific or -associated metabolite essential for cancer cell survival to a pan-cancer TCR consisting of TRAV38.2-DV8*TRAJ31 alpha chain paired with a TRBV25.1*TRBJ2.3 beta chain on a non-MAIT CD8-positive T cell clone (MC.7.G5), triggering T cell-mediated killing of a wide range of cancer cell types (PubMed:31959982).

Gene Wiki entry for MR1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MR1 Gene

Genomics for MR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MR1

Top Transcription factor binding sites by QIAGEN in the MR1 gene promoter:
  • AML1a
  • Elk-1
  • FOXL1
  • GATA-1
  • ISGF-3
  • POU2F1
  • POU2F1a
  • RFX1
  • Roaz

Genomic Locations for MR1 Gene

Latest Assembly
chr1:181,033,387-181,061,938
(GRCh38/hg38)
Size:
28,552 bases
Orientation:
Plus strand

Previous Assembly
chr1:181,002,523-181,031,074
(GRCh37/hg19 by Entrez Gene)
Size:
28,552 bases
Orientation:
Plus strand

chr1:181,003,067-181,031,074
(GRCh37/hg19 by Ensembl)
Size:
28,008 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:
    • Heterotrimer that consists of MR1, B2M and a metabolite antigen (PubMed:27043408, PubMed:23051753, PubMed:23846752, PubMed:24695216). Forms reversible covalent Schiff base complexes with the microbial metabolite, which serves as a molecular switch triggering complete folding, stable association with B2M and translocation of the ternary complex from endoplasmic reticulum to the plasma membrane (PubMed:27043408, PubMed:23051753, PubMed:23846752, PubMed:24695216). On antigen-presenting cells, the ternary complex interacts with TCR on CD8-positive T cells (PubMed:23846752, PubMed:24695216, PubMed:26795251). The molecular machinery involved in antigen processing remains unknown, but appears to be TAP1-TAP2 and proteasome-independent. Structurally, MR1-B2M heterodimer adopts a topology similar to classical MHC class I molecules, with alpha-1 and alpha-2 domains of MR1 forming the antigen-binding cleft composed of two alpha-helices resting on a floor of 7-stranded anti-parallel beta-pleated sheet (PubMed:23846752, PubMed:24695216, PubMed:26795251). The ribityl moiety of pyrimidine-based antigens is recognized by Tyr-95 residue in the CDR3 alpha loop of the invariant TRAV1-2 TCR (PubMed:23846752, PubMed:24695216, PubMed:26795251).
    • [Isoform 3]: Homodimerizes and does not associate with B2M.
    SequenceCaution:
    • Sequence=AAD01443.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 intracellular proteins
  • Predicted membrane proteins

Protein Domains for MR1 Gene

Suggested Antigen Peptide Sequences for MR1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55410, highly similar to Homo sapiens major histocompatibility complex, class I-related (MR1), mRNA (B4E3B1_HUMAN)
  • Class I histocompatibility antigen-like protein (HMR1_HUMAN)
  • MHC class I-like antigen MR-1 (Q9MY23_HUMAN)
  • MHC class I related protein 1 (Q9TQB3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q95460

UniProtKB/Swiss-Prot:

HMR1_HUMAN :
  • The alpha-1 domain is a structural part of antigen-binding cleft.
  • Belongs to the MHC class I family.
Domain:
  • The alpha-1 domain is a structural part of antigen-binding cleft.
  • The alpha-2 domain is a structural part of antigen-binding cleft.
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 displaying microbial pyrimidine-based metabolites to alpha-beta T cell receptors (TCR) on innate-type mucosal-associated invariant T (MAIT) cells (PubMed:23051753, PubMed:26795251, PubMed:12794138, PubMed:19416870, PubMed:22692454, PubMed:23846752). In complex with B2M preferentially presents riboflavin-derived metabolites to semi-invariant TRAV1-2 TCRs on MAIT cells, guiding immune surveillance of the microbial metabolome at mucosal epithelial barriers (PubMed:26795251, PubMed:24695216, PubMed:20581831). Signature pyrimidine-based microbial antigens are generated via non-enzymatic condensation of metabolite intermediates of the riboflavin pathway with by-products arising from other metabolic pathways such as glycolysis. Typical potent antigenic metabolites are 5-(2-oxoethylideneamino)-6-D-ribitylaminouracil (5-OE-RU) and 5-(2-oxopropylideneamino)-6-D-ribitylaminouracil (5-OP-RU), products of condensation of 5-amino-6-D-ribityaminouracil (5-A-RU) with glyoxal or methylglyoxal by-products, respectively (PubMed:24695216). May present microbial antigens to various TRAV1-2-negative MAIT cell subsets, providing for unique recognition of diverse microbes, including pathogens that do not synthesize riboflavin (PubMed:27527800, PubMed:31113973). Upon antigen recognition, elicits rapid innate-type MAIT cell activation to eliminate pathogenic microbes by directly killing infected cells (PubMed:24695216, PubMed:27527800, PubMed:23846752). During T cell development, drives thymic selection and post-thymic terminal differentiation of MAIT cells in a process dependent on commensal microflora (By similarity). Acts as an immune sensor of cancer cell metabolome (PubMed:31959982). May present a tumor-specific or -associated metabolite essential for cancer cell survival to a pan-cancer TCR consisting of TRAV38.2-DV8*TRAJ31 alpha chain paired with a TRBV25.1*TRBJ2.3 beta chain on a non-MAIT CD8-positive T cell clone (MC.7.G5), triggering T cell-mediated killing of a wide range of cancer cell types (PubMed:31959982).
UniProtKB/Swiss-Prot EnzymeRegulation:
Usually inhibited by pterin-based metabolites such as 6-formylpterin (6-FP, a product of folic acid photodegradation). 6-FP competitively inhibits MAIT cell activation by 5-OP-RU (PubMed:28166217). Modulated by commonly prescribed anti-inflammatory drug metabolites. Inhibited by salicilates such as 3-formylsalicylic and 5-formylsalicylic acids. Activated by diclofenac and/or its hydroxy metabolites (PubMed:28166217).

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:0030881 beta-2-microglobulin binding IDA 26795251
GO:0032393 MHC class I receptor activity TAS 7624800
GO:0042608 T cell receptor binding IDA 26795251
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:
  • Mr1 Mr1<tm1Gfn>

Animal Models for research

  • Taconic Biosciences Mouse Models for MR1

miRNA for MR1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 type I membrane protein. Endoplasmic reticulum membrane. Single-pass type I membrane protein. Golgi apparatus membrane. Single-pass type I membrane protein. Early endosome membrane. Single-pass type I membrane protein. Late endosome membrane. Single-pass type I membrane protein. Note=In the absence of antigen remains within the endoplasmic reticulum where it acts as a metabolite sensor. Antigen binding triggers trafficking of the ternary complex to the plasma membrane. After presentation, most of these complexes are rapidly internalized and degraded via endocytosis. A small subset recycles via endosomes back to the plasma membrane and may thus acquire and present new antigens that do not efficiently reach the endoplasmic reticulum. {ECO:0000269 PubMed:27043408}.
[Isoform 1]: Cell membrane. Single-pass type I membrane protein. Endoplasmic reticulum membrane. Single-pass membrane protein.
[Isoform 3]: Cell membrane. Single-pass type I membrane protein. Endoplasmic reticulum membrane. Single-pass membrane protein. 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. {ECO:0000269 PubMed:23457030}.
[Isoform 4]: Secreted.

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
endoplasmic reticulum 5
endosome 5
extracellular 3
golgi apparatus 3
lysosome 1

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:0000139 Golgi membrane IEA --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IDA 21190736
genes like me logo Genes that share ontologies with MR1: view

Pathways & Interactions for MR1 Gene

PathCards logo

SuperPathways for MR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I IEA --
GO:0002854 positive regulation of T cell mediated cytotoxicity directed against tumor cell target IDA 31959982
GO:0006955 immune response TAS 7624800
GO:0019884 antigen processing and presentation of exogenous antigen IDA 27043408
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

mRNA/cDNA for MR1 Gene

9 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for MR1 Gene

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



Protein tissue co-expression partners for MR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 (PubMed:7624800, PubMed:9780177). Low expression is detected in peripheral blood B cells, T cells, monocytes and in bronchial epithelial cells (at protein level) (PubMed:27043408). Expressed in plasmablasts or plasma B cells in the lamina propria of ileum, appendix and colon (at protein level) (PubMed:19760593). Highly expressed on a subset of CD45-positive CD3-positive thymocytes (at protein level) (PubMed:22692454).

Evidence on tissue expression from TISSUES for MR1 Gene

  • Blood(4.3)
  • Kidney(4.2)
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 30 31
  • 98.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MR1 30 31
  • 84.28 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mr1 30 17 31
  • 82.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mr1 30
  • 81.64 (n)
Oppossum
(Monodelphis domestica)
Mammalia MR1 31
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 29 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 43 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
-- 31
  • 36 (a)
ManyToMany
BFIV21 31
  • 36 (a)
ManyToMany
BF1 31
  • 35 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
-- 31
  • 35 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
-- 31
  • 32 (a)
ManyToMany
-- 31
  • 31 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 48 (a)
ManyToMany
-- 31
  • 47 (a)
ManyToMany
-- 31
  • 45 (a)
ManyToMany
-- 31
  • 44 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
-- 31
  • 36 (a)
ManyToMany
-- 31
  • 36 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
-- 31
  • 33 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
Species where no ortholog for MR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MR1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MR1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2236410 Likely Benign: not specified. - 181,049,100(+) A/Gp.His39Arg
NM_001194999.1(MR1):c.116A>G (p.His39Arg)
MISSENSE_VARIANT,FIVE_PRIME_UTR
rs3863720 Likely Benign: not specified 181,049,122(+) G/A
NM_001194999.1(MR1):c.138G>A (p.Ser46=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs528551338 Uncertain Significance: not provided 181,052,416(+) G/A
NM_001195000.1(MR1):c.605-1157G>A
SYNONYMOUS_VARIANT,INTRON
rs61731101 Benign: not provided 181,049,146(+) T/C
NM_001194999.1(MR1):c.162T>C (p.Pro54=)
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR
rs879255371 Uncertain Significance: not specified 181,050,062(+) G/A
NM_001531.2(MR1):c.380G>A (p.Ser127Asn)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

Disorders for MR1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MR1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
microscopic colitis
  • colitis, microscopic
familial febrile seizures
  • familial febrile convulsions
- 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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23
  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 23
  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 23
  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 23
  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 23

Products for MR1 Gene

  • Addgene plasmids for MR1

Sources for MR1 Gene