Gene Gene information from NCBI Gene database.
Entrez ID 3140
Gene name Major histocompatibility complex, class I-related
Gene symbol MR1
Synonyms (NCBI Gene)
HLALS
Chromosome 1
Chromosome location 1q25.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
485
miRTarBase ID miRNA Experiments Reference
MIRT019837 hsa-miR-375 Microarray 20215506
MIRT1157349 hsa-miR-1224-3p CLIP-seq
MIRT1157350 hsa-miR-1234 CLIP-seq
MIRT1157351 hsa-miR-1256 CLIP-seq
MIRT1157352 hsa-miR-125a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0002376 Process Immune system process IEA
GO:0002474 Process Antigen processing and presentation of peptide antigen via MHC class I IEA
GO:0002709 Process Regulation of T cell mediated immunity IEA
GO:0002854 Process Positive regulation of T cell mediated cytotoxicity directed against tumor cell target IDA 31959982
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600764 4975 ENSG00000153029
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q95460
Protein name Major histocompatibility complex class I-related protein 1 (MHC class I-related protein 1) (Class I histocompatibility antigen-like protein)
Protein 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:19416870, PubMed:23457030, PubMed:22692454, PubM
PDB 4GUP , 4L4T , 4L4V , 4LCW , 4NQC , 4NQD , 4NQE , 4PJ5 , 4PJ7 , 4PJ8 , 4PJ9 , 4PJA , 4PJB , 4PJC , 4PJD , 4PJE , 4PJF , 4PJG , 4PJH , 4PJI , 4PJX , 5D5M , 5D7I , 5D7J , 5D7L , 5U16 , 5U17 , 5U1R , 5U2V , 5U6Q , 5U72 , 6MWR , 6PUC , 6PUD , 6PUE , 6PUF , 6PUG , 6PUH , 6PUI , 6PUJ , 6PUK , 6PUL , 6PUM , 6PVC , 6PVD , 6W9U , 6W9V , 6XQP , 7LLI , 7LLJ , 7RNO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00129 MHC_I 23 198 Class I Histocompatibility antigen, domains alpha 1 and 2 Domain
PF07654 C1-set 206 285 Immunoglobulin C1-set domain Domain
Tissue specificity 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
Sequence
Sequence length 341
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Immunodeficiency Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MR1-related disorder Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Aphasia Conduction Associate 32709702, 37922286
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Associate 34737749
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 30208917
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 26823810
★☆☆☆☆
Found in Text Mining only
Cytokine Release Syndrome Associate 36396738
★☆☆☆☆
Found in Text Mining only
Disease Associate 27881839
★☆☆☆☆
Found in Text Mining only
Dystonia Associate 35041927
★☆☆☆☆
Found in Text Mining only
Dystonia 18 Associate 27098784
★☆☆☆☆
Found in Text Mining only
Endometriosis Associate 29511377
★☆☆☆☆
Found in Text Mining only
Familial paroxysmal dystonia Associate 27098784
★☆☆☆☆
Found in Text Mining only