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MILR1 mast cell immunoglobulin like receptor 1 [ Homo sapiens (human) ]

Gene ID: 284021, updated on 5-Mar-2024

Summary

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Official Symbol
MILR1provided by HGNC
Official Full Name
mast cell immunoglobulin like receptor 1provided by HGNC
Primary source
HGNC:HGNC:27570
See related
Ensembl:ENSG00000271605 AllianceGenome:HGNC:27570
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MCA32; MCA-32; C17orf60; Allergin-1
Summary
Predicted to enable transmembrane signaling receptor activity. Predicted to be involved in several processes, including cell-cell adhesion via plasma-membrane adhesion molecules; mast cell degranulation; and negative regulation of mast cell activation. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in appendix (RPKM 7.6), lymph node (RPKM 6.4) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
17q23.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (64449115..64497356)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (65318873..65366741)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62461567..62470123)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L31 pseudogene 57 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62398397-62398608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12589 Neighboring gene platelet and endothelial cell adhesion molecule 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12591 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62469307-62469807 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62486099-62486273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:62492349-62493208 Neighboring gene DNA polymerase gamma 2, accessory subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12594 Neighboring gene ATP synthase membrane subunit f pseudogene 4 Neighboring gene microRNA 3064 Neighboring gene microRNA 5047 Neighboring gene DEAD-box helicase 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Differential isoform expression of Allergin-1 during acute and chronic inflammation. Geerdink RJ, et al. Immun Inflamm Dis, 2022 Dec. PMID 36444625, Free PMC Article
  2. Influence of MILR1 promoter polymorphism on expression levels and the phenotype of atopy. Nanatsue K, et al. J Hum Genet, 2014 Sep. PMID 25007884
  3. Expression and function of Allergin-1 on human primary mast cells. Nagai K, et al. PLoS One, 2013. PMID 24116093, Free PMC Article
  4. [Immunoglobulin-like receptor, allergin-1 regulates the activation of mast cells]. Tahara-Hanaoka S, et al. Arerugi, 2013 Nov. PMID 24552759
  5. An immunoglobulin-like receptor, Allergin-1, inhibits immunoglobulin E-mediated immediate hypersensitivity reactions. Hitomi K, et al. Nat Immunol, 2010 Jul. PMID 20526344

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Differential isoform expression of Allergin-1 during acute and chronic inflammation.
    Title: Differential isoform expression of Allergin-1 during acute and chronic inflammation.
  2. Data indicate that the rs6504230 polymorphism affects MILR1 (mast cell immunoglobulin-like receptor 1; synonyms, Allergin-1) expression levels, leading to a susceptibility to producing specific IgE antibodies against common allergens.
    Title: Influence of MILR1 promoter polymorphism on expression levels and the phenotype of atopy.
  3. Allergin-1S1, a splicing isoform of Allergin-1, is predominantly expressed on human primary MC in both bronchoalveolar lavage fluid and nasal scratching specimens. Moreover, Allergin-1S1 inhibits IgE-mediated activation from human primary MC in BAL fluid.
    Title: Expression and function of Allergin-1 on human primary mast cells.
  4. It is a immunoglobulin-like receptor which regulates the activation of mast cell.(review)
    Title: [Immunoglobulin-like receptor, allergin-1 regulates the activation of mast cells].
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC163278

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cell surface receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mast cell degranulation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of mast cell activation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
allergin-1
Names
allergy inhibitory receptor 1
mast cell antigen 32
probable mast cell antigen 32 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001085423.2 → NP_001078892.1  allergin-1 isoform Allergin-1L precursor

    See identical proteins and their annotated locations for NP_001078892.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (L) represents the longest transcript and encodes the longest isoform (Allergin-1L, also known as long form).
    Source sequence(s)
    BC053534, BE296352, CD687595
    Consensus CDS
    CCDS74133.1
    UniProtKB/Swiss-Prot
    A1L458, B4DUS1, B7ZM50, B9EGN0, D6RUW6, D6RUW8, Q7Z6M3
    Related
    ENSP00000482801.1, ENST00000619286.5
    Conserved Domains (2) summary
    pfam13895
    Location:37 → 121
    Ig_2; Immunoglobulin domain
    pfam13927
    Location:128 → 200
    Ig_3; Immunoglobulin domain

  2. NM_001291316.2 → NP_001278245.1  allergin-1 isoform Allergin-1S1 precursor

    See identical proteins and their annotated locations for NP_001278245.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (S1) lacks an alternate in-frame exon in the central coding region, compared to variant L, resulting in an isoform (Allergin-1S1, also known as short form 1) that is shorter than isoform Allergin-1L.
    Source sequence(s)
    AC234063
    Consensus CDS
    CCDS77087.1
    UniProtKB/Swiss-Prot
    Q7Z6M3
    Conserved Domains (1) summary
    pfam13895
    Location:37 → 121
    Ig_2; Immunoglobulin domain

  3. NM_001291317.2 → NP_001278246.1  allergin-1 isoform Allergin-1S2 precursor

    See identical proteins and their annotated locations for NP_001278246.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (S2) lacks an alternate in-frame exon in the 5' coding region, compared to variant L, resulting in an isoform (Allergin-1S2, also known as short form 2) that is shorter than isoform Allergin-1L.
    Source sequence(s)
    AC234063
    Consensus CDS
    CCDS77088.1
    UniProtKB/Swiss-Prot
    Q7Z6M3
    Related
    ENSP00000477504.1, ENST00000612535.4
    Conserved Domains (1) summary
    pfam13927
    Location:38 → 110
    Ig_3; Immunoglobulin domain

  4. NM_001369493.1 → NP_001356422.1  allergin-1 isoform Allergin-1L precursor

    Status: VALIDATED

    Source sequence(s)
    AC234063
    Consensus CDS
    CCDS74133.1
    UniProtKB/Swiss-Prot
    A1L458, B4DUS1, B7ZM50, B9EGN0, D6RUW6, D6RUW8, Q7Z6M3

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    64449115..64497356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450708.2 → XP_024306476.2  allergin-1 isoform X2

    UniProtKB/Swiss-Prot
    A1L458, B4DUS1, B7ZM50, B9EGN0, D6RUW6, D6RUW8, Q7Z6M3

  2. XM_047435791.1 → XP_047291747.1  allergin-1 isoform X2

    UniProtKB/Swiss-Prot
    A1L458, B4DUS1, B7ZM50, B9EGN0, D6RUW6, D6RUW8, Q7Z6M3

  3. XM_024450707.2 → XP_024306475.2  allergin-1 isoform X2

    UniProtKB/Swiss-Prot
    A1L458, B4DUS1, B7ZM50, B9EGN0, D6RUW6, D6RUW8, Q7Z6M3

  4. XM_047435790.1 → XP_047291746.1  allergin-1 isoform X2

    UniProtKB/Swiss-Prot
    A1L458, B4DUS1, B7ZM50, B9EGN0, D6RUW6, D6RUW8, Q7Z6M3
    Related
    ENSP00000480749.1, ENST00000615220.4

  5. XM_047435789.1 → XP_047291745.1  allergin-1 isoform X1

  6. XM_047435792.1 → XP_047291748.1  allergin-1 isoform X3

  7. XM_047435793.1 → XP_047291749.1  allergin-1 isoform X4

    Related
    ENSP00000481318.1, ENST00000616498.4

RNA

  1. XR_002957990.2 RNA Sequence

  2. XR_002957989.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    65318873..65366741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315770.1 → XP_054171745.1  allergin-1 isoform X2

    UniProtKB/Swiss-Prot
    A1L458, B4DUS1, B7ZM50, B9EGN0, D6RUW6, D6RUW8, Q7Z6M3

  2. XM_054315769.1 → XP_054171744.1  allergin-1 isoform X2

    UniProtKB/Swiss-Prot
    A1L458, B4DUS1, B7ZM50, B9EGN0, D6RUW6, D6RUW8, Q7Z6M3

  3. XM_054315768.1 → XP_054171743.1  allergin-1 isoform X2

    UniProtKB/Swiss-Prot
    A1L458, B4DUS1, B7ZM50, B9EGN0, D6RUW6, D6RUW8, Q7Z6M3

  4. XM_054315771.1 → XP_054171746.1  allergin-1 isoform X2

    UniProtKB/Swiss-Prot
    A1L458, B4DUS1, B7ZM50, B9EGN0, D6RUW6, D6RUW8, Q7Z6M3

  5. XM_054315767.1 → XP_054171742.1  allergin-1 isoform X2

    UniProtKB/Swiss-Prot
    A1L458, B4DUS1, B7ZM50, B9EGN0, D6RUW6, D6RUW8, Q7Z6M3

  6. XM_054315766.1 → XP_054171741.1  allergin-1 isoform X1

  7. XM_054315772.1 → XP_054171747.1  allergin-1 isoform X3

  8. XM_054315773.1 → XP_054171748.1  allergin-1 isoform X4

RNA

  1. XR_008484810.1 RNA Sequence

  2. XR_008484811.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z6M3.2 GenPept UniProtKB/Swiss-Prot:Q7Z6M3

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