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CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 [ Homo sapiens (human) ]

Gene ID: 9620, updated on 5-May-2020

Summary

Official Symbol
CELSR1provided by HGNC
Official Full Name
cadherin EGF LAG seven-pass G-type receptor 1provided by HGNC
Primary source
HGNC:HGNC:1850
See related
Ensembl:ENSG00000075275 MIM:604523
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
ME2; FMI2; CDHF9; HFMI2; ADGRC1
Summary
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]
Expression
Broad expression in kidney (RPKM 10.0), skin (RPKM 8.2) and 16 other tissues See more
Orthologs

Genomic context

See CELSR1 in Genome Data Viewer
Location:
22q13.31
Exon count:
38
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (46361174..46537620, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46756731..46933067, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene GTSE1 divergent transcript Neighboring gene G2 and S-phase expressed 1 Neighboring gene tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase Neighboring gene family with sequence similarity 136 member A pseudogene Neighboring gene VISTA enhancer hs1924 Neighboring gene uncharacterized LOC105373075 Neighboring gene GRAM domain containing 4

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434P0729

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
 
Rho protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
Wnt signaling pathway, planar cell polarity pathway NAS
Non-traceable Author Statement
more info
PubMed 
anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
apical protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
establishment of body hair planar orientation ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of planar polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of planar polarity of embryonic epithelium ISS
Inferred from Sequence or Structural Similarity
more info
 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
lateral sprouting involved in lung morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
planar cell polarity pathway involved in neural tube closure IEA
Inferred from Electronic Annotation
more info
 
planar dichotomous subdivision of terminal units involved in lung branching morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization involved in establishment of planar polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
wound healing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
cadherin EGF LAG seven-pass G-type receptor 1
Names
adhesion G protein-coupled receptor C1
cadherin family member 9
cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)
flamingo homolog 2
protocadherin flamingo 2

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.

Genomic

  1. NG_030466.2 RefSeqGene

    Range
    4551..181337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001378328.1NP_001365257.1  cadherin EGF LAG seven-pass G-type receptor 1 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AL021392, AL031588, AL031597
  2. NM_014246.4NP_055061.1  cadherin EGF LAG seven-pass G-type receptor 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_055061.1

    Status: REVIEWED

    Source sequence(s)
    AF231024, AL021392
    Consensus CDS
    CCDS14076.1
    UniProtKB/Swiss-Prot
    Q9NYQ6
    Related
    ENSP00000262738.3, ENST00000262738.7
    Conserved Domains (9) summary
    smart00303
    Location:24072460
    GPS; G-protein-coupled receptor proteolytic site domain
    cd11304
    Location:793888
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00008
    Location:20522113
    HormR; Domain present in hormone receptors
    cd00054
    Location:14071441
    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 ...
    cd00055
    Location:20022040
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    cd00110
    Location:14441627
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00002
    Location:24662697
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02210
    Location:17191849
    Laminin_G_2; Laminin G domain
    pfam16489
    Location:21312379
    GAIN; GPCR-Autoproteolysis INducing (GAIN) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    46361174..46537620 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530555.2XP_011528857.1  cadherin EGF LAG seven-pass G-type receptor 1 isoform X4

    Related
    ENSP00000501367.1, ENST00000674500.1
    Conserved Domains (8) summary
    smart00303
    Location:12061259
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00008
    Location:851912
    HormR; Domain present in hormone receptors
    cd00054
    Location:163198
    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 ...
    cd00055
    Location:801839
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    cd00110
    Location:243426
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00002
    Location:12651496
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02210
    Location:518648
    Laminin_G_2; Laminin G domain
    pfam16489
    Location:9301178
    GAIN; GPCR-Autoproteolysis INducing (GAIN) domain
  2. XM_011530554.2XP_011528856.1  cadherin EGF LAG seven-pass G-type receptor 1 isoform X3

    Conserved Domains (8) summary
    smart00303
    Location:12381291
    GPS; G-protein-coupled receptor proteolytic site domain
    smart00008
    Location:883944
    HormR; Domain present in hormone receptors
    cd00054
    Location:195230
    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 ...
    cd00055
    Location:833871
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    cd00110
    Location:275458
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00002
    Location:12971528
    7tm_2; 7 transmembrane receptor (Secretin family)
    pfam02210
    Location:550680
    Laminin_G_2; Laminin G domain
    pfam16489
    Location:9621210
    GAIN; GPCR-Autoproteolysis INducing (GAIN) domain
  3. XM_011530553.1XP_011528855.1  cadherin EGF LAG seven-pass G-type receptor 1 isoform X2

    Conserved Domains (6) summary
    cd11304
    Location:793888
    Cadherin_repeat; Cadherin tandem repeat domain
    cd00054
    Location:13641399
    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 ...
    cd00055
    Location:20022040
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    cd00110
    Location:14441627
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam02210
    Location:17191849
    Laminin_G_2; Laminin G domain
    cl02422
    Location:20522084
    HRM; Hormone receptor domain
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