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

    Gene ID: 2015, updated on 21-Dec-2019

    Summary

    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
    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

    Genomic context

    See ADGRE1 in Genome Data Viewer
    Location:
    19p13.3-p13.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (6887549..6940450)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (6887560..6940464)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene SH2 domain containing 3A Neighboring gene vav guanine nucleotide exchange factor 1 Neighboring gene Sharpr-MPRA regulatory region Neighboring gene uncharacterized LOC105372256 Neighboring gene adhesion G protein-coupled receptor E4, pseudogene Neighboring gene microtubule affinity regulating kinase 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

    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)

    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_001256252.2NP_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/Swiss-Prot
      Q14246
      Related
      ENSP00000370811.4, ENST00000381404.8
      Conserved Domains (5) summary
      smart00303
      Location:494543
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00179
      Location:80119
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:3362
      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:216256
      EGF_CA; Calcium-binding EGF domain
      cl21561
      Location:547821
      7tm_4; Olfactory receptor
    2. NM_001256253.2NP_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/Swiss-Prot
      Q14246
      UniProtKB/TrEMBL
      A8K653
      Related
      ENSP00000250572.7, ENST00000250572.12
      Conserved Domains (5) summary
      smart00303
      Location:546595
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00179
      Location:132171
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:3362
      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:268308
      EGF_CA; Calcium-binding EGF domain
      cl21561
      Location:599775
      7tm_4; Olfactory receptor
    3. NM_001256254.2NP_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/Swiss-Prot
      Q14246
      UniProtKB/TrEMBL
      A8K2Y6
      Related
      ENSP00000370814.4, ENST00000381407.9
      Conserved Domains (5) summary
      smart00303
      Location:405454
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00179
      Location:80109
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:3362
      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:458699
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam07645
      Location:127167
      EGF_CA; Calcium-binding EGF domain
    4. NM_001256255.2NP_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/Swiss-Prot
      Q14246
      Related
      ENSP00000405974.2, ENST00000450315.7
      Conserved Domains (5) summary
      smart00303
      Location:369418
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00179
      Location:80114
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:3362
      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:422663
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam12662
      Location:5383
      cEGF; Complement Clr-like EGF-like
    5. NM_001974.5NP_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
      Q14246
      Related
      ENSP00000311545.3, ENST00000312053.9
      Conserved Domains (5) summary
      smart00303
      Location:546595
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00179
      Location:132171
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:3362
      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:599840
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam07645
      Location:268308
      EGF_CA; Calcium-binding EGF domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      6887549..6940450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (5) summary
      smart00303
      Location:638687
      GPS; G-protein-coupled receptor proteolytic site domain
      smart00179
      Location:132171
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:3362
      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:691932
      7tm_2; 7 transmembrane receptor (Secretin family)
      pfam07645
      Location:360400
      EGF_CA; Calcium-binding EGF domain
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