Dchs1 dachsous cadherin related 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dchs1provided by MGI
Official Full Name: dachsous cadherin related 1provided by MGI
Primary source: MGI:MGI:2685011
See related: Ensembl:ENSMUSG00000036862 AllianceGenome:MGI:2685011
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: FIB1; CDH25; Gm165; PCDH16; 3110041P15Rik; C130033F22Rik
Summary: Predicted to enable beta-catenin binding activity and cadherin binding activity. Involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; hippo signaling; and mitral valve morphogenesis. Acts upstream of or within several processes, including condensed mesenchymal cell proliferation; ossification involved in bone maturation; and post-anal tail morphogenesis. Located in apical part of cell. Is expressed in several structures, including alimentary system; central nervous system; heart; hemolymphoid system gland; and lung. Used to study mitral valve prolapse. Human ortholog(s) of this gene implicated in Van Maldergem syndrome 1 and mitral valve prolapse. Orthologous to human DCHS1 (dachsous cadherin-related 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in whole brain E14.5 (RPKM 20.4), limb E14.5 (RPKM 19.1) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 E3; 7 55.98 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (105402196..105437562, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (105752989..105788355, complement)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neonatal lethality of mouse A/J-7[SM] consomic strain is caused by an insertion mutation in the Dchs1 gene.
Title: Neonatal lethality of mouse A/J-7(SM) consomic strain is caused by an insertion mutation in the Dchs1 gene.
Fat4 and Dchs1 mutants mimic the craniofacial phenotype of the human Van Maldergem syndrome and Dchs1-Fat4 signalling is essential for osteoblast differentiation.
Title: Dchs1-Fat4 regulation of osteogenic differentiation in mouse.
Dchs1-Fat4 planar cell polarity pathway controls cell orientation in the early skeletal condensation to define the shape and relative dimensions of the mouse sternum.
Title: Dchs1-Fat4 regulation of polarized cell behaviours during skeletal morphogenesis.
Fat4 and Dachsous1 are critical regulators of lymphatic valve morphogenesis.
Title: Dachsous1-Fat4 Signaling Controls Endothelial Cell Polarization During Lymphatic Valve Morphogenesis-Brief Report.
novel mechanisms of Fat4-Dchs1 signalling have evolved to control cell proliferation within the developing vertebrae.
Title: Fat4-Dchs1 signalling controls cell proliferation in developing vertebrae.
Dchs1 is a Fat4 receptor in stromal signaling essential for kidney development.
Title: Fat4/Dchs1 signaling between stromal and cap mesenchyme cells influences nephrogenesis and ureteric bud branching.
Stromal Fat4 acts non-autonomously with Dchs1/2 to restrict the nephron progenitor pool.
Title: Stromal Fat4 acts non-autonomously with Dchs1/2 to restrict the nephron progenitor pool.
DCHS1 deficiency in mitral valve prolapse patient mitral valve interstitial cells (MVICs), as well as in Dchs1(+/-) mouse MVICs, result in altered migration and cellular patterning, supporting these processes as aetiological underpinnings for the disease
Title: Mutations in DCHS1 cause mitral valve prolapse.
These findings suggest that Fat and Dachsous self-bend due to the loss of Ca(2+)-binding amino acids from specific EC-EC linkers, and can therefore adapt to confined spaces.
Title: Giant cadherins Fat and Dachsous self-bend to organize properly spaced intercellular junctions.
Dchs1 and Fat4 function as a ligand-receptor pair during murine development, and novel requirements for Dchs1-Fat4 signaling in multiple organs are identified
Title: Characterization of a Dchs1 mutant mouse reveals requirements for Dchs1-Fat4 signaling during mammalian development.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI414982 (e-PCR)
- UniSTS:208169

PCDH16_1801 (e-PCR)
- UniSTS:280891

Dchs1 (e-PCR), detects polymorphism
- UniSTS:478926

UniSTS:478931 (e-PCR)
- UniSTS:478931

Dchs1 (e-PCR), detects polymorphism
- UniSTS:478931

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cadherin binding	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 anatomical structure morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching involved in ureteric bud morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell migration involved in endocardial cushion formation	IEA Inferred from Electronic Annotation more info
involved_in cell migration involved in endocardial cushion formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell adhesion via plasma-membrane adhesion molecules	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cochlea development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within condensed mesenchymal cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within condensed mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within establishment of planar polarity	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules	IDA Inferred from Direct Assay more info	PubMed
involved_in hippo signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitral valve formation	IEA Inferred from Electronic Annotation more info
involved_in mitral valve formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mitral valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitral valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nephron development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neural tube development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ossification involved in bone maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pattern specification process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-anal tail morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
part_of catenin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protocadherin-16

Names: dachsous 1; protein Dchs1; protein dachsous homolog 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)

NM_001162943.1 → NP_001156415.1 protocadherin-16 precursor

See identical proteins and their annotated locations for NP_001156415.1

Status: VALIDATED

Source sequence(s)

AC121823

Consensus CDS

CCDS52351.1

UniProtKB/Swiss-Prot

E9PVD3

Related

ENSMUSP00000077574.6, ENSMUST00000078482.13

Conserved Domains (1) summary

cd11304
Location:1108 → 1201

Cadherin_repeat; Cadherin tandem repeat domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000073.7 Reference GRCm39 C57BL/6J

Range

105402196..105437562 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006507655.5 → XP_006507718.1 protocadherin-16 isoform X1

Conserved Domains (1) summary

cd11304
Location:1248 → 1341

Cadherin_repeat; Cadherin tandem repeat domain
XM_030242498.2 → XP_030098358.1 protocadherin-16 isoform X2

UniProtKB/Swiss-Prot

E9PVD3

Conserved Domains (1) summary

cd11304
Location:1108 → 1201

Cadherin_repeat; Cadherin tandem repeat domain