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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
    mouse all
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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

    Gene LinkOut

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

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