Col3a1 collagen, type III, alpha 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Col3a1provided by MGI
Official Full Name: collagen, type III, alpha 1provided by MGI
Primary source: MGI:MGI:88453
See related: Ensembl:ENSMUSG00000026043 AllianceGenome:MGI:88453
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: Tsk2; Tsk-2; Col3a-1
Summary: This gene encodes the alpha-1 subunit of the fibril-forming type III collagen found in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue. The encoded protein forms homotrimeric type III procollagen that undergoes proteolytic processing during fibril formation. A majority of mice lacking the encoded protein die within two days of birth but about 5% of the animals survive to adulthood. The surviving mice exhibit severe cortical malformation and experience significantly shorter lifespan. The mutant mouse named "tight skin 2" exhibiting systemic sclerosis phenotype was found to harbor a missense point mutation in this gene. A pseudogene of this gene has been defined on chromosome 8. [provided by RefSeq, Nov 2015]
Expression: Biased expression in bladder adult (RPKM 483.4), limb E14.5 (RPKM 351.2) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C1.1; 1 23.67 cM

Exon count:: 51

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (45350698..45388866)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (45311538..45349706)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Collagen Characterization in a Model of Nonalcoholic Steatohepatitis with Fibrosis; A Call for Development of Targeted Therapeutics.
Title: Collagen Characterization in a Model of Nonalcoholic Steatohepatitis with Fibrosis; A Call for Development of Targeted Therapeutics.
Type III Collagen is Required for Adipogenesis and Actin Stress Fibre Formation in 3T3-L1 Preadipocytes.
Title: Type III Collagen is Required for Adipogenesis and Actin Stress Fibre Formation in 3T3-L1 Preadipocytes.
A novel transgenic mouse model for corneal scar visualization.
Title: A novel transgenic mouse model for corneal scar visualization.
Type III collagen is a key regulator of the collagen fibrillar structure and biomechanics of articular cartilage and meniscus.
Title: Type III collagen is a key regulator of the collagen fibrillar structure and biomechanics of articular cartilage and meniscus.
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model of the Ehlers-Danlos syndrome.
Title: Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.
findings suggest that deficiencies of leucine and isoleucine reduce type I and III tropocollagen syntheses in skin by suppressing the action of mTOR
Title: Branched-chain amino acids regulate type I tropocollagen and type III tropocollagen syntheses via modulation of mTOR in the skin.
osthole could inhibit the collagen I and III expressions and their ratio in CFs treated with TGF-beta1 via Smad signaling pathway, which might be one of its anti-fibrotic action mechanisms.
Title: Osthole inhibits the expressions of collagen I and III through Smad signaling pathway after treatment with TGF-β1 in mouse cardiac fibroblasts.
The findings indicate the critical role of CatB in regulating the expression of collagens III and IV by fibroblasts via prolonging TLR2/NF-kappaB activation and oxidative stress.
Title: Cathepsin B Regulates Collagen Expression by Fibroblasts via Prolonging TLR2/NF-κB Activation.
Tight skin 2 mice exhibit a novel time line of events leading to increased extracellular matrix deposition and dermal fibrosis.
Title: Tight skin 2 mice exhibit a novel time line of events leading to increased extracellular matrix deposition and dermal fibrosis.
Tsk2 expressing mice harbor numerous autoantibodies in their plasma, including some which are similar to antinuclear antibodies present in systemic sclerosis patients.
Title: Demonstration of autoimmunity in the tight skin-2 mouse: a model for scleroderma.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Associated conditions

Description	Tests
tight skin 2 GeneReviews: Not available

Variation

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Alleles

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

Chemically induced (ENU) (2)
Endonuclease-mediated (5) 1 citation
Spontaneous (1) 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

Col3a1 (e-PCR), detects polymorphism
- UniSTS:472845

Ms10w (e-PCR), detects polymorphism
- UniSTS:234005

GDB:181238 (e-PCR)
- UniSTS:155206

UniSTS:531307 (e-PCR)
- UniSTS:531307

Col3a1 (e-PCR), detects polymorphism
- UniSTS:531307

X57983 (e-PCR)
- UniSTS:125805

AW550625 (e-PCR)
- UniSTS:178389

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SMAD binding	IPI Inferred from Physical Interaction more info	PubMed
enables extracellular matrix structural constituent	ISO Inferred from Sequence Orthology more info
enables extracellular matrix structural constituent conferring tensile strength	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables integrin binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables platelet-derived growth factor binding	ISO Inferred from Sequence Orthology more info
enables protease binding	IEA Inferred from Electronic Annotation more info
enables protease binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aorta smooth muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in basement membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to amino acid stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in collagen fibril organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in elastic fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endochondral bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in heart development	ISO Inferred from Sequence Orthology more info
involved_in in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in integrin-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in layer formation in cerebral cortex	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb joint morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lung development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of immune response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptide cross-linking	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Rho protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in response to angiotensin	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to cytokine	IEA Inferred from Electronic Annotation more info
involved_in response to cytokine	ISO Inferred from Sequence Orthology more info
involved_in response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to radiation	IEA Inferred from Electronic Annotation more info
involved_in response to radiation	ISO Inferred from Sequence Orthology more info
involved_in skin development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin development	ISO Inferred from Sequence Orthology more info
involved_in supramolecular fiber organization	ISO Inferred from Sequence Orthology more info
involved_in tissue homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in transforming growth factor beta1 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in wound healing	IEA Inferred from Electronic Annotation more info
involved_in wound healing	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of collagen trimer	IDA Inferred from Direct Assay more info	PubMed
part_of collagen type III trimer	IDA Inferred from Direct Assay more info	PubMed
part_of collagen type III trimer	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	ISO Inferred from Sequence Orthology more info
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: collagen alpha-1(III) chain

Names: procollagen, type III, alpha 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_009930.2 → NP_034060.2 collagen alpha-1(III) chain preproprotein

See identical proteins and their annotated locations for NP_034060.2

Status: REVIEWED

Source sequence(s)

AK019448, BC043089, BY139268

Consensus CDS

CCDS35554.1

UniProtKB/Swiss-Prot

P08121, Q61429, Q9CRN7

UniProtKB/TrEMBL

Q3TVI5

Related

ENSMUSP00000085192.7, ENSMUST00000087883.13

Conserved Domains (3) summary

pfam01391
Location:413 → 472

Collagen; Collagen triple helix repeat (20 copies)

pfam00093
Location:33 → 89

VWC; von Willebrand factor type C domain

pfam01410
Location:1231 → 1463

COLFI; Fibrillar collagen C-terminal domain