AutismKB 2.0

Annotation Details for MR1


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Basic Information Top
Gene Symbol:MR1 ( FLJ31593,HLALS )
Gene Full Name: major histocompatibility complex, class I-related
Band: 1q25.3
Quick LinksEntrez ID:3140; OMIM: 600764; Uniprot ID:HMR1_HUMAN; ENSEMBL ID: ENSG00000153029; HGNC ID: 4975
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576IEA-extracellular region-
GO:0005783IDA-endoplasmic reticulum21190736
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0005886IBA-plasma membrane-
GO:0005886IDA-plasma membrane-
GO:0016021IEA-integral component of membrane-
GO:0042612IEA-MHC class I protein complex-
GO ID Evidence Qualifier GO_term References
GO:0003823IBA-antigen binding-
GO:0005515IPI-protein binding25416956
GO:0032393TAS-MHC class I receptor activity7624800
GO ID Evidence Qualifier GO_term References
GO:0002367IEA-cytokine production involved in immune response-
GO:0002474IEA-antigen processing and presentation of peptide antigen via MHC class I-
GO:0006955TAS-immune response7624800
GO:0007165IEA-signal transduction-
GO:0019882IBA-antigen processing and presentation-
GO:0032611IEA-interleukin-1 beta production-
GO:0032620IEA-interleukin-17 production-
GO:0045087IEA-innate immune response-
GO:0050829IEA-defense response to Gram-negative bacterium-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1195463
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018