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

Summary

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, Nov 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

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Differential isoform expression of Allergin-1 during acute and chronic inflammation.
Title: Differential isoform expression of Allergin-1 during acute and chronic inflammation.
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.
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.
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].

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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

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

NoName (e-PCR)
- UniSTS:486617

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)

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
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
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
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