Dsc3 desmocollin 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dsc3provided by MGI
Official Full Name: desmocollin 3provided by MGI
Primary source: MGI:MGI:1194993
See related: Ensembl:ENSMUSG00000059898 AllianceGenome:MGI:1194993
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 5430426I24Rik
Summary: This gene encodes a member of the cadherin family of proteins that mediates adhesion in desmosomes. Together with desmogleins, the encoded protein forms the transmembrane core of desmosomes, a multiprotein complex involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. Mice lacking the encoded protein exhibit a pre-implantation lethal phenotype. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. This gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jul 2016]
Expression: Biased expression in limb E14.5 (RPKM 3.5), mammary gland adult (RPKM 1.1) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 A2; 18 11.11 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (20093987..20135465, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (19960930..20002410, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

plakoglobin (Pg) in conjunction with lymphoid enhancer-binding factor 1 (Lef-1) differentially regulates the proximal promoters of Dsc2 and Dsc3
Title: Plakoglobin as a regulator of desmocollin gene expression.
hypothesize that DSC3 can contribute to the progression of tumors both by cell adhesion-dependent (skin surface) and likely by cell adhesion-independent (invading tumor cells) mechanisms
Title: Loss of Desmocollin 3 in skin tumor development and progression.
The function of DSC3 in the development and maintenance of stratified epithelia, in particular the epidermis and hair follicles, was investigated.
Title: Loss of desmocollin 3 in mice leads to epidermal blistering.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables gamma-catenin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in desmosome	IBA Inferred from Biological aspect of Ancestor more info
located_in desmosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: desmocollin-3

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_001291809.1 → NP_001278738.1 desmocollin-3 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 3' end compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.

Source sequence(s)

AC105159

Consensus CDS

CCDS89197.1

UniProtKB/Swiss-Prot

P55850

Related

ENSMUSP00000111514.5, ENSMUST00000115848.5

Conserved Domains (4) summary

cd11304
Location:247 → 351

Cadherin_repeat; Cadherin tandem repeat domain

smart01055
Location:29 → 111

Cadherin_pro; Cadherin prodomain like

pfam00028
Location:140 → 234

Cadherin; Cadherin domain

cl09101
Location:595 → 670

E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus
NM_007882.3 → NP_031908.3 desmocollin-3 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_031908.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC105159, BY151533, BY745760, CD773111, Y11169

Consensus CDS

CCDS37744.1

UniProtKB/Swiss-Prot

G5E8S6, O55110, O55122, P55850

Related

ENSMUSP00000153261.2, ENSMUST00000225110.2

Conserved Domains (4) summary

cd11304
Location:247 → 351

Cadherin_repeat; Cadherin tandem repeat domain

smart01055
Location:29 → 111

Cadherin_pro; Cadherin prodomain like

pfam00028
Location:142 → 234

Cadherin; Cadherin domain

pfam01049
Location:841 → 891

Cadherin_C; Cadherin cytoplasmic region

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_000084.7 Reference GRCm39 C57BL/6J

Range

20093987..20135465 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006525593.5 → XP_006525656.1 desmocollin-3 isoform X1

See identical proteins and their annotated locations for XP_006525656.1

UniProtKB/Swiss-Prot

G5E8S6, O55110, O55122, P55850

Conserved Domains (4) summary

cd11304
Location:247 → 351

Cadherin_repeat; Cadherin tandem repeat domain

smart01055
Location:29 → 111

Cadherin_pro; Cadherin prodomain like

pfam00028
Location:142 → 234

Cadherin; Cadherin domain

pfam01049
Location:841 → 891

Cadherin_C; Cadherin cytoplasmic region
XM_006525596.4 → XP_006525659.1 desmocollin-3 isoform X2

Conserved Domains (4) summary

cd11304
Location:183 → 287

Cadherin_repeat; Cadherin tandem repeat domain

pfam00028
Location:78 → 170

Cadherin; Cadherin domain

pfam01049
Location:777 → 827

Cadherin_C; Cadherin cytoplasmic region

cl07391
Location:2 → 49

Cadherin_pro; Cadherin prodomain like