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ADGRE1 adhesion G protein-coupled receptor E1 [ Homo sapiens (human) ]

Gene ID: 2015, updated on 11-Apr-2024

Summary

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Official Symbol
ADGRE1provided by HGNC
Official Full Name
adhesion G protein-coupled receptor E1provided by HGNC
Primary source
HGNC:HGNC:3336
See related
Ensembl:ENSG00000174837 MIM:600493; AllianceGenome:HGNC:3336
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EMR1; TM7LN3
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 by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression
Biased expression in spleen (RPKM 6.8), appendix (RPKM 4.1) and 12 other tissues See more
Orthologs
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Genomic context

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See ADGRE1 in Genome Data Viewer
Location:
19p13.3-p13.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (6887579..6940450)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (6876897..6929770)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6887590..6940461)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6760841-6761341 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:6764936-6765836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9969 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6772949-6773449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13864 Neighboring gene SH2 domain containing 3A Neighboring gene ReSE screen-validated silencer GRCh37_chr19:6782716-6782888 Neighboring gene MPRA-validated peak3307 silencer Neighboring gene vav guanine nucleotide exchange factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:6801723-6802243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13866 Neighboring gene Sharpr-MPRA regulatory region 13171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13867 Neighboring gene MPRA-validated peak3310 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13868 Neighboring gene uncharacterized LOC105372256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13869 Neighboring gene adhesion G protein-coupled receptor E4, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9970 Neighboring gene MARK2 pseudogene 21

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. EMR1, the human homolog of F4/80, is an eosinophil-specific receptor. Hamann J, et al. Eur J Immunol, 2007 Oct. PMID 17823986
  2. The EGF-TM7 family: unusual structures at the leukocyte surface. McKnight AJ, et al. J Leukoc Biol, 1998 Mar. PMID 9500513
  3. EMR1, an unusual member in the family of hormone receptors with seven transmembrane segments. Baud V, et al. Genomics, 1995 Mar 20. PMID 7601460
  4. Human EMR2, a novel EGF-TM7 molecule on chromosome 19p13.1, is closely related to CD97. Lin HH, et al. Genomics, 2000 Jul 15. PMID 10903844
  5. The myeloid cell biomarker EMR1 is ectopically expressed in colon cancer. Ali H, et al. Tumour Biol, 2021. PMID 34486997

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The myeloid cell biomarker EMR1 is ectopically expressed in colon cancer.
    Title: The myeloid cell biomarker EMR1 is ectopically expressed in colon cancer.
  2. EMR1 expression is significantly upregulated in human masticatory mucosa during wound healing
    Title: Human gingiva transcriptome during wound healing.
  3. Additional transcription changes likely associated with Th2-like eosinophilic inflammation were prominent and included increased EMR1&3.
    Title: Gene transcription changes in asthmatic chronic rhinosinusitis with nasal polyps and comparison to those in atopic dermatitis.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
  5. Highly specific marker for eosinophils.
    Title: EMR1, the human homolog of F4/80, is an eosinophil-specific receptor.
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

EBI GWAS Catalog

Description
Exploring the genetic basis of chronic periodontitis: a genome-wide association study.
EBI GWAS Catalog

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

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein-coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in adaptive immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell adhesion TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell surface receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
adhesion G protein-coupled receptor E1
Names
EGF-like module receptor 1
EGF-like module-containing mucin-like hormone receptor-like 1
EMR1 hormone receptor
egf-like module containing, mucin-like, hormone receptor-like 1
egf-like module containing, mucin-like, hormone receptor-like sequence 1

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_001256252.2 → NP_001243181.1  adhesion G protein-coupled receptor E1 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region and has an additional segment in the 3' coding region, but maintains the reading frame, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK131562, BC059395
    Consensus CDS
    CCDS58645.1
    UniProtKB/TrEMBL
    A8K2Y6
    Related
    ENSP00000370811.4, ENST00000381404.8
    Conserved Domains (5) summary
    smart00303
    Location:494 → 543
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00179
    Location:80 → 119
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:33 → 62
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam07645
    Location:216 → 256
    EGF_CA; Calcium-binding EGF domain
    cl21561
    Location:547 → 821
    7tm_4; Olfactory receptor

  2. NM_001256253.2 → NP_001243182.1  adhesion G protein-coupled receptor E1 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK291518, AK297003, BC059395
    Consensus CDS
    CCDS58644.1
    UniProtKB/TrEMBL
    A8K653
    Related
    ENSP00000250572.7, ENST00000250572.12
    Conserved Domains (5) summary
    smart00303
    Location:546 → 595
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00179
    Location:132 → 171
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:33 → 62
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam07645
    Location:268 → 308
    EGF_CA; Calcium-binding EGF domain
    cl21561
    Location:599 → 775
    7tm_4; Olfactory receptor

  3. NM_001256254.2 → NP_001243183.1  adhesion G protein-coupled receptor E1 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks three consecutive exons in the 5' coding region but maintains the reading frame, compared to variant 1. The resulting isoform (4) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK290401, AK297003, BC059395, DA465986
    Consensus CDS
    CCDS58646.1
    UniProtKB/TrEMBL
    B2R8T0
    Related
    ENSP00000370814.4, ENST00000381407.9
    Conserved Domains (5) summary
    smart00303
    Location:405 → 454
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00179
    Location:80 → 109
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:33 → 62
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00002
    Location:458 → 699
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam07645
    Location:127 → 167
    EGF_CA; Calcium-binding EGF domain

  4. NM_001256255.2 → NP_001243184.1  adhesion G protein-coupled receptor E1 isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The resulting isoform (5) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK297011, BC059395, DA465986
    Consensus CDS
    CCDS58643.1
    UniProtKB/TrEMBL
    B2R8T0
    Related
    ENSP00000405974.2, ENST00000450315.7
    Conserved Domains (5) summary
    smart00303
    Location:369 → 418
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00179
    Location:80 → 114
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:33 → 62
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00002
    Location:422 → 663
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam12662
    Location:53 → 83
    cEGF; Complement Clr-like EGF-like

  5. NM_001974.5 → NP_001965.3  adhesion G protein-coupled receptor E1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001965.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK297003, BC059395, DA465986, X81479
    Consensus CDS
    CCDS12175.1
    UniProtKB/Swiss-Prot
    A6NHV2, B7Z486, B7Z489, E7EPX9, E9PD45, H9KV79, Q14246, Q2I7G5, Q6ZMN0, Q8NGA7
    UniProtKB/TrEMBL
    B2R8T0
    Related
    ENSP00000311545.3, ENST00000312053.9
    Conserved Domains (5) summary
    smart00303
    Location:546 → 595
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00179
    Location:132 → 171
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:33 → 62
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00002
    Location:599 → 840
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam07645
    Location:268 → 308
    EGF_CA; Calcium-binding EGF domain

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    6887579..6940450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527794.2 → XP_011526096.1  adhesion G protein-coupled receptor E1 isoform X1

    UniProtKB/TrEMBL
    B2R8T0
    Conserved Domains (5) summary
    smart00303
    Location:638 → 687
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00179
    Location:132 → 171
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:33 → 62
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00002
    Location:691 → 932
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam07645
    Location:360 → 400
    EGF_CA; Calcium-binding EGF domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    6876897..6929770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320175.1 → XP_054176150.1  adhesion G protein-coupled receptor E1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14246.3 GenPept UniProtKB/Swiss-Prot:Q14246

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