Gene Gene information from NCBI Gene database.
Entrez ID 284021
Gene name Mast cell immunoglobulin like receptor 1
Gene symbol MILR1
Synonyms (NCBI Gene)
Allergin-1C17orf60MCA-32MCA32
Chromosome 17
Chromosome location 17q23.3
miRNA miRNA information provided by mirtarbase database.
106
miRTarBase ID miRNA Experiments Reference
MIRT1149156 hsa-miR-1273f CLIP-seq
MIRT1149157 hsa-miR-143 CLIP-seq
MIRT1149158 hsa-miR-1827 CLIP-seq
MIRT1149159 hsa-miR-3122 CLIP-seq
MIRT1149160 hsa-miR-3200-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity IBA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane NAS 20526344
GO:0006955 Process Immune response IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z6M3
Protein name Allergin-1 (Allergy inhibitory receptor 1) (Mast cell antigen 32) (MCA-32) (Mast cell immunoglobulin-like receptor 1)
Protein 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).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17736 Ig_C17orf99 37 119 C17orf99 Ig domain Domain
PF17736 Ig_C17orf99 124 217 C17orf99 Ig domain Domain
Tissue specificity 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). {ECO:0000269|PubMed:2052634
Sequence
MWSHLNRLLFWSIFSSVTCRKAVLDCEAMKTNEFPSPCLDSKTKVVMKGQNVSMFCSHKN
KSLQITYSLFRRKTHLGTQDGKGEPAIFNLSITEAHESGPYKCKAQVTSCSKYSRDFSF
T
IVDPVTSPVLNIMVIQTETDRHITLHCLSVNGSLPINYTFFENHVAISPAISKYDREPAE
FNLTKKNPGEEEEYRCEAKNRLPNYATYSHPVTMPST
GGDSCPFCLKLLLPGLLLLLVVI
ILILAFWVLPKYKTRKAMRNNVPRDRGDTAMEVGIYANILEKQAKEESVPEVGSRPCVST
AQDEAKHSQELQYATPVFQEVAPREQEACDSYKSGYVYSELNF
Sequence length 343
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 16 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 16B Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autoimmune Diseases Autoimmune Diseases BEFREE 30556363
★☆☆☆☆
Found in Text Mining only
Common Variable Immunodeficiency Common variable immunodeficiency Pubtator 33190167 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus BEFREE 30556363
★☆☆☆☆
Found in Text Mining only