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

Gene ID: 2015, updated on 23-May-2018
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; Vega:OTTHUMG00000181966
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
See ADGRE1 in Genome Data Viewer
Location:
19p13.3-p13.2
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (6887549..6940453)
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 uncharacterized LOC105372256 Neighboring gene adhesion G protein-coupled receptor E4, pseudogene Neighboring gene microtubule affinity regulating kinase 1 pseudogene

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Class B/2 (Secretin family receptors), organism-specific biosystem (from REACTOME)
    Class B/2 (Secretin family receptors), organism-specific biosystemThis family is known as Family B (secretin-receptor family, family 2) G-protein-coupled receptors. Family B GPCRs include secretin, calcitonin, parathyroid hormone/parathyroid hormone-related peptide...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • GPCRs, Class B Secretin-like, organism-specific biosystem (from WikiPathways)
    GPCRs, Class B Secretin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.gpcr.org/7tm/ (originally at http://www.cmbi.kun.nl/7tm/). The groupings are based on the GPCR phylogenetic tree available fr...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein alpha-subunit binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-protein coupled receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-protein coupled receptor activity IEA
Inferred from Electronic Annotation
more info
 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
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 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
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

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_001256252.1NP_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, DA465986
    Consensus CDS
    CCDS58645.1
    UniProtKB/Swiss-Prot
    Q14246
    Related
    ENSP00000370811.4, OTTHUMP00000267996, ENST00000381404.8, OTTHUMT00000458487
    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_001256253.1NP_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, DA465986
    Consensus CDS
    CCDS58644.1
    UniProtKB/Swiss-Prot
    Q14246
    UniProtKB/TrEMBL
    A8K653
    Related
    ENSP00000250572.7, OTTHUMP00000267992, ENST00000250572.12, OTTHUMT00000458483
    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_001256254.1NP_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, OTTHUMP00000267993, ENST00000381407.9, OTTHUMT00000458484
    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_001256255.1NP_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, OTTHUMP00000267995, ENST00000450315.7, OTTHUMT00000458486
    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_001974.4NP_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, OTTHUMP00000267994, ENST00000312053.8, OTTHUMT00000458485
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    6887549..6940453
    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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