ADGRE1 (adhesion G protein-coupled receptor E1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2015
Gene name Adhesion G protein-coupled receptor E1
Gene symbol ADGRE1
Synonyms (NCBI Gene)
EMR1TM7LN3
Chromosome 19
Chromosome location 19p13.3-p13.2
Summary This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments b
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity IBA
GO:0004930 Function G protein-coupled receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600493 3336 ENSG00000174837
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14246
Protein name Adhesion G protein-coupled receptor E1 (EGF-like module receptor 1) (EGF-like module-containing mucin-like hormone receptor-like 1) (EMR1 hormone receptor)
Protein function Orphan receptor involved in cell adhesion and probably in cell-cell interactions specifically involving cells of the immune system. May play a role in regulatory T-cells (Treg) development.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12662 cEGF 53 → 83 Complement Clr-like EGF-like Domain
PF07645 EGF_CA 132 → 170 Calcium-binding EGF domain Domain
PF07645 EGF_CA 172 → 213 Calcium-binding EGF domain Domain
PF12662 cEGF 241 → 271 Complement Clr-like EGF-like Domain
PF01825 GPS 548 → 590 GPCR proteolysis site, GPS, motif Motif
PF00002 7tm_2 599 → 840 7 transmembrane receptor (Secretin family) Family
Tissue specificity TISSUE SPECIFICITY: Expression is restricted to eosinophils. {ECO:0000269|PubMed:17823986, ECO:0000269|PubMed:24530099}.
Sequence 
MRGFNLLLFWGCCVMHSWEGHIRPTRKPNTKGNNCRDSTLCPAYATCTNTVDSYYCACKQ
GFLSSNGQNHFKDPGVRCKDIDECSQSPQPCGPNSSCKNLSGRYKCSCLDGFSSPTGNDW
VPGKPGNFSCTDINECLTSSVCPEHSDCVNSMGSYSCSCQVGFISRNSTCEDVDECADPR
ACPEHATCNNTVGNYSCFCNPGFESSSGHLSFQGLKASCEDIDECTEMCPINSTCTNTPG
SYFCTCHPGFAPSNGQLNFTDQGVECRDIDECRQDPSTCGPNSICTNALGSYSCGCIAGF
HPNPEGSQKDGNFSCQRVLFKCKEDVIPDNKQIQQCQEGTAVKPAYVSFCAQINNIFSVL
DKVCENKTTVVSLKNTTESFVPVLKQISTWTKFTKEETSSLATVFLESVESMTLASFWKP
SANITPAVRTEYLDIESKVINKECSEENVTLDLVAKGDKMKIGCSTIEESESTETTGVAF
VSFVGMESVLNERFFKDHQAPLTTSEIKLKMNSRVVGGIMTGEKKDGFSDPIIYTLENIQ
PKQKFERPICVSWSTDVKGGRWTSFGCVILEASETYTICSCNQMANLAVIMASGELTMDF
SLYIISHVGIIISLVCLVLAIATFLLCRSIRNHNTYLHLHLCVCLLLAKTLFLAGIHKTD
NKMGCAIIAGFLHYLFLACFFWMLVEAVILFLMVRNLKVVNYFSSRNIKMLHICAFGYGL
PMLVVVISASVQPQGYGMHNRCWLNTETGFIWSFLGPVCTVIVINSLLLTWTLWILRQRL
SSVNAEVSTLKDTRLLTFKAFAQLFILGCSWVLGIFQIGPVAGVMAYLFTIINSLQGAFI
FLIHCLLNGQVREEYKRWITGKTKPSSQSQTSRILLSSMPSASKTG
Sequence length 886
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Class B/2 (Secretin family receptors)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs140779395 RCV005927696
ADGRE1-related disorder Likely benign; Benign rs34941944, rs117242880, rs141986863 RCV003947090
RCV003922076
RCV003970462
Lung cancer Benign rs140779395 RCV005927700
Lymphoma Benign rs140779395 RCV005927698
Show/Hide Text Mining Associations (20)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 27220887
Chronic Periodontitis Associate 23459936, 25056994
Colorectal Neoplasms Associate 34486997
Coma Associate 23614351
HAIR AN syndrome Stimulate 18825363
Hypereosinophilic Syndrome Associate 24530099
Hyperplasia Associate 35586138
Idiopathic Pulmonary Fibrosis Associate 21309737
Inflammation Stimulate 20930711
Inflammation Associate 33737203