• Gene id: 3140

Gene Summary

• Gene Symbol: MR1   Gene   UCSC   Ensembl
• Aliases: HLALS
• Gene name: major histocompatibility complex, class I-related
• Alternate names: major histocompatibility complex class I-related gene protein, MHC class I-like antigen MR-1, MHC class-I related-gene protein, major histocompatibility complex, class I-like sequence,
• Gene location: 1q25.3 (181033391: 181061937)     Exons: 8     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 600764

Protein Summary

• Protein general information: Q95460  
  • Name: Major histocompatibility complex class I related gene protein (MHC class I related gene protein) (Class I histocompatibility antigen like protein)
  • Length: 341  
  • Mass: 39366
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MGELMAFLLPLIIVLMVKHSDSRTHSLRYFRLGVSDPIHGVPEFISVGYVDSHPITTYDSVTRQKEPRAPWMAEN
  LAPDHWERYTQLLRGWQQMFKVELKRLQRHYNHSGSHTYQRMIGCELLEDGSTTGFLQYAYDGQDFLIFNKDTLS
  WLAVDNVAHTIKQAWEANQHELLYQKNWLEEECIAWLKRFLEYGKDTLQRTEPPLVRVNRKETFPGVTALFCKAH
  GFYPPEIYMTWMKNGEEIVQEIDYGDILPSGDGTYQAWASIELDPQSSNLYSCHVEHCGVHMVLQVPQESETIPL
  VMKAVSGSIVLVIVLAGVGVLVWRRRPREQNGAIYLPTPDR

• Structural information:
  • Protein Domains: (203..29-)
    (/note="Ig-like-C1-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003006  IPR003597   IPR011161  IPR037055  IPR011162  IPR001039  
  • Prosite: PS50835 PS00290
  • 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
  • PDBsum: 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
  • DIP: 59986
  • STRING: ENSP00000477563
• Other Databases: GeneCards:  MR1  Malacards:  MR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0031902	late endosome membrane	IDA	cellular component
GO:0031901	early endosome membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0050830	defense response to Gram-positive bacterium	IDA	biological process
GO:0002854	positive regulation of T cell mediated cytotoxicity directed against tumor cell target	IDA	biological process
GO:0030881	beta-2-microglobulin binding	IDA	molecular function
GO:0019884	antigen processing and presentation of exogenous antigen	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0042608	T cell receptor binding	IDA	molecular function
GO:0050829	defense response to Gram-negative bacterium	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0033077	T cell differentiation in thymus	ISS	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0042612	MHC class I protein complex	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006955	immune response	TAS	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032620	interleukin-17 production	IEA	biological process
GO:0032611	interleukin-1 beta production	IEA	biological process
GO:0002367	cytokine production involved in immune response	IEA	biological process
GO:0050829	defense response to Gram-negative bacterium	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0032393	MHC class I receptor activity	TAS	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R