Aliases for MILR1 Gene

Aliases for MILR1 Gene

  • Mast Cell Immunoglobulin Like Receptor 1 2 3 5
  • Allergin-1 2 3 3 4
  • Allergy Inhibitory Receptor 1 2 3 4
  • Mast Cell Antigen 32 2 3 4
  • MCA-32 2 3 4
  • Mast Cell Immunoglobulin-Like Receptor 1 2 4
  • C17orf60 3 4
  • MCA32 3 4
  • Probable Mast Cell Antigen 32 Homolog 3
  • Chromosome 17 Open Reading Frame 60 2
  • MILR1 5

External Ids for MILR1 Gene

Previous HGNC Symbols for MILR1 Gene

  • C17orf60

Previous GeneCards Identifiers for MILR1 Gene

  • GC17P062462

Summaries for MILR1 Gene

GeneCards Summary for MILR1 Gene

MILR1 (Mast Cell Immunoglobulin Like Receptor 1) is a Protein Coding gene. Diseases associated with MILR1 include Mitochondrial Dna Depletion Syndrome 16 and Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4. An important paralog of this gene is FCRL5.

UniProtKB/Swiss-Prot Summary for MILR1 Gene

  • Immunoglobulin-like receptor which plays an inhibitory role in degranulation of mast cells. Negatively regulates IgE-mediated mast cell activation and suppresses the type I immediate hypersensitivity reaction (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MILR1 Gene

Genomics for MILR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MILR1 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
GH17J064448 Promoter 0.3 Ensembl 250.7 +1.0 995 2.8 MILR1 piR-57387-022 POLG2
GH17J064494 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 17.9 +47.8 47795 5.2 SP1 ZNF207 ZNF654 MYC NCOR1 SSRP1 ZNF592 POLR2A JUND YY1 POLG2 HSALNG0118098 MN297499 lnc-DDX5-2 CEP95 ENSG00000265982 SLC16A6P1 PLEKHM1P1 FTSJ3 DDX5
GH17J064500 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +56.1 56056 8.3 LARP7 BCLAF1 SP1 ZNF207 IKZF1 NCOR1 ZNF600 MYC SSRP1 JUND CEP95 POLG2 DDX5 lnc-POLG2-1 DDX42 FTSJ3 SLC16A6P1 ENSG00000265982 PLEKHM1P1 SMARCD2
GH17J064657 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +211.3 211253 6.5 ZNF207 IKZF1 ZNF600 ZNF10 POLR2A ZIC2 YY1 NONO CTCF ZNF592 Hsa-Mir-574_5p-031 SMURF2 lnc-DDX5-3 POLG2 FTSJ3 CEP95 SLC16A6P1 DDX42 DDX5 SMARCD2
GH17J064619 Enhancer 1 ENCODE dbSUPER 13.2 +170.9 170881 1.7 NCOR1 IKZF1 NFIC SMAD4 TAL1 RARA PRDM6 BCL6 PRDM10 STAT5A MILR1 lnc-DDX5-4 Hsa-Mir-574_5p-031 SMURF2 lnc-DDX5-3 DDX5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MILR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MILR1

Genomic Locations for MILR1 Gene

Latest Assembly
chr17:64,449,006-64,496,469
(GRCh38/hg38)
Size:
47,464 bases
Orientation:
Plus strand

Previous Assembly
chr17:62,461,568-62,470,123
(GRCh37/hg19 by Entrez Gene)
Size:
8,556 bases
Orientation:
Plus strand

chr17:62,461,569-62,464,760
(GRCh37/hg19 by Ensembl)
Size:
3,192 bases
Orientation:
Plus strand

Genomic View for MILR1 Gene

Genes around MILR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MILR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MILR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MILR1 Gene

Proteins for MILR1 Gene

  • Protein details for MILR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z6M3-MILR1_HUMAN
    Recommended name:
    Allergin-1
    Protein Accession:
    Q7Z6M3
    Secondary Accessions:
    • A1L458
    • B4DUS1
    • B7ZM50
    • B9EGN0
    • D6RUW6
    • D6RUW8

    Protein attributes for MILR1 Gene

    Size:
    343 amino acids
    Molecular mass:
    38735 Da
    Quaternary structure:
    • Monomer. Interacts (tyrosine-phosphorylated) with PTPN6, PTPN11 and INPP5D.
    SequenceCaution:
    • Sequence=AAI36595.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAG62433.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for MILR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MILR1 Gene

Post-translational modifications for MILR1 Gene

  • N-glycosylated.
  • Glycosylation at Asn51, Asn60, Asn151, Asn157, Asn89, and Asn182
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MILR1 Gene

Domains & Families for MILR1 Gene

Gene Families for MILR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MILR1 Gene

Suggested Antigen Peptide Sequences for MILR1 Gene

GenScript: Design optimal peptide antigens:
  • Mast cell antigen 32 (MCA32_HUMAN)
genes like me logo Genes that share domains with MILR1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MILR1 Gene

Function for MILR1 Gene

Molecular function for MILR1 Gene

UniProtKB/Swiss-Prot Function:
Immunoglobulin-like receptor which plays an inhibitory role in degranulation of mast cells. Negatively regulates IgE-mediated mast cell activation and suppresses the type I immediate hypersensitivity reaction (By similarity).

Phenotypes From GWAS Catalog for MILR1 Gene

Gene Ontology (GO) - Molecular Function for MILR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IBA 21873635
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with MILR1: view
genes like me logo Genes that share phenotypes with MILR1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MILR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MILR1 Gene

Localization for MILR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MILR1 Gene

Cell membrane. Single-pass type I membrane protein.

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 MILR1 gene
Compartment Confidence
plasma membrane 3
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MILR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA,NAS 20526344
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MILR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MILR1 Gene

Pathways & Interactions for MILR1 Gene

PathCards logo

SuperPathways for MILR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MILR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway IBA 21873635
GO:0033004 negative regulation of mast cell activation IEA,ISS --
GO:0043303 mast cell degranulation IEA,ISS --
GO:0098742 cell-cell adhesion via plasma-membrane adhesion molecules IBA 21873635
genes like me logo Genes that share ontologies with MILR1: view

No data available for Pathways by source and SIGNOR curated interactions for MILR1 Gene

Drugs & Compounds for MILR1 Gene

No Compound Related Data Available

Transcripts for MILR1 Gene

mRNA/cDNA for MILR1 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 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 MILR1

Alternative Splicing Database (ASD) splice patterns (SP) for MILR1 Gene

No ASD Table

Relevant External Links for MILR1 Gene

GeneLoc Exon Structure for
MILR1

Expression for MILR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MILR1 Gene

mRNA differential expression in normal tissues according to GTEx for MILR1 Gene

This gene is overexpressed in Whole Blood (x13.9) and Spleen (x4.7).

Protein differential expression in normal tissues from HIPED for MILR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (51.4), Monocytes (9.5), and Adipocyte (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MILR1 Gene



Protein tissue co-expression partners for MILR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MILR1

SOURCE GeneReport for Unigene cluster for MILR1 Gene:

Hs.631749

mRNA Expression by UniProt/SwissProt for MILR1 Gene:

Q7Z6M3-MILR1_HUMAN
Tissue specificity: Expressed in myeloid cells (dendritic cells, macrophages and neutrophils, weak expression on B-cells but not in T-cells or natural killer cells), peripheral blood basophils and mast cells (at protein level).
genes like me logo Genes that share expression patterns with MILR1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MILR1 Gene

Orthologs for MILR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MILR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MILR1 29 30
  • 98.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MILR1 29 30
  • 78.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MILR1 29 30
  • 77.25 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Milr1 30
  • 6 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MILR1 30
  • 3 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MILR1 29 30
  • 47.56 (n)
OneToOne
Species where no ortholog for MILR1 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)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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 MILR1 Gene

ENSEMBL:
Gene Tree for MILR1 (if available)
TreeFam:
Gene Tree for MILR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MILR1: view image
Alliance of Genome Resources:
Additional Orthologs for MILR1

Paralogs for MILR1 Gene

genes like me logo Genes that share paralogs with MILR1: view

Variants for MILR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MILR1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1027735 Uncertain Significance: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 64,492,719(+) G/A
NM_007215.4(POLG2):c.743C>T (p.Ser248Leu)
MISSENSE
1033196 Pathogenic: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 64,485,808(+) G/A
NM_007215.4(POLG2):c.1030C>T (p.Arg344Ter)
NONSENSE
1033197 Uncertain Significance: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 64,492,713(+) T/C
NM_007215.4(POLG2):c.749A>G (p.Gln250Arg)
MISSENSE
889720 Uncertain Significance: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 64,477,966(+) A/G
NM_007215.4(POLG2):c.1315T>C (p.Phe439Leu)
MISSENSE
889721 Uncertain Significance: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 64,485,872(+) C/T
NM_007215.4(POLG2):c.970-4G>A
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MILR1 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 MILR1 Gene

Variant ID Type Subtype PubMed ID
nsv2120 CNV insertion 18451855

Additional Variant Information for MILR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MILR1
Leiden Open Variation Database (LOVD)
MILR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for MILR1 Gene

Disorders for MILR1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MILR1 Gene - From: CVR and GCD

Additional Disease Information for MILR1

genes like me logo Genes that share disorders with MILR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MILR1 Gene

Publications for MILR1 Gene

  1. An immunoglobulin-like receptor, Allergin-1, inhibits immunoglobulin E-mediated immediate hypersensitivity reactions. (PMID: 20526344) Hitomi K … Shibuya A (Nature immunology 2010) 2 3 4
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. (PMID: 30157269) Hoff KE … Copeland WC (PloS one 2018) 72
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. (PMID: 27592148) Varma H … Naini AB (European journal of medical genetics 2016) 72

Products for MILR1 Gene

Sources for MILR1 Gene