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

    Gene ID: 284021, updated on 10-Dec-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 cell surface receptor signaling pathway; mast cell degranulation; and negative regulation of mast cell activation. Predicted to be located in plasma membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in appendix (RPKM 7.6), lymph node (RPKM 6.4) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MILR1 in Genome Data Viewer
    Location:
    17q23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (64449115..64497356)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (65318873..65366741)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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)

    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
      Related
      ENSP00000520797.1, ENST00000718367.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      Related
      ENSP00000520795.1, ENST00000718366.1

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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