Col8a1 collagen, type VIII, alpha 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Col8a1provided by MGI
Official Full Name: collagen, type VIII, alpha 1provided by MGI
Primary source: MGI:MGI:88463
See related: Ensembl:ENSMUSG00000068196 AllianceGenome:MGI:88463
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: Col8a-1
Summary: Predicted to be an extracellular matrix structural constituent. Acts upstream of or within camera-type eye morphogenesis; epithelial cell proliferation; and positive regulation of cell-substrate adhesion. Located in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including brain; gut; heart; limb mesenchyme; and skeleton. Orthologous to human COL8A1 (collagen type VIII alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in bladder adult (RPKM 10.3), limb E14.5 (RPKM 3.6) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 C1.1; 16 34.22 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (57444619..57575100, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (57624256..57754737, complement)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Lack of collagen VIII reduces myofibroblast differentiation and fibrosis and promotes early mortality and left ventricle dilatation in response to pressure overload in mice.
Title: Lack of collagen VIII reduces fibrosis and promotes early mortality and cardiac dilatation in pressure overload in mice.
Type VIII collagen signals via beta1 integrin and RhoA to regulate MMP-2 expression and smooth muscle cell migration.
Title: Type VIII collagen signals via β1 integrin and RhoA to regulate MMP-2 expression and smooth muscle cell migration.
Type VIII collagen mediates vessel wall remodeling after arterial injury and fibrous cap formation in atherosclerosis.
Title: Type VIII collagen mediates vessel wall remodeling after arterial injury and fibrous cap formation in atherosclerosis.
in contrast to diabetic wild-type mice EMT-like changes were attenuated in diabetic Col8alpha1/alpha2-KO mice, indicating that collagen VIII may be 1 of the major inducers of epithelial-to-mesenchymal transition-like changes in kidneys of diabetic wild-type mice
Title: Collagen VIII influences epithelial phenotypic changes in experimental diabetic nephropathy.
Type VIII collagen significantly modulates the effect of TGF-beta1 on mesangial cells and may therefore play a role in the pathogenesis of diabetic nephropathy.
Title: Type VIII collagen modulates TGF-β1-induced proliferation of mesangial cells.
Lack of type VIII collagen confers renoprotection in diabetic nephropathy in a knockout mouse model.
Title: Lack of type VIII collagen in mice ameliorates diabetic nephropathy.
Oxidized phospholipids induce type VIII collagen expression and vascular smooth muscle cell migration.
Title: Oxidized phospholipids induce type VIII collagen expression and vascular smooth muscle cell migration.
Downregulation of COL8A1 expression sensitized hepatocarcinoma cells to the action of D-limonene, impeded cell proliferation, and led to decreased invasiveness, indicating that COL8A1 might serve as a target for gene therapy in hepatocarcinoma.
Title: siRNA-targeted COL8A1 inhibits proliferation, reduces invasion and enhances sensitivity to D-limonence treatment in hepatocarcinoma cells.
These data indicate that type VIII collagen plays an important role in glial scar formation during the repair process by astrocytes.
Title: Astrocytes express type VIII collagen during the repair process of brain cold injury.
Crystal structure of mouse alpha1(VIII)(3) NC1 domain trimer at 1.9 A resolution. Surface of collagen VIII NC1 trimer has three strips of partially exposed aromatic residues, likely involved in supramolecular assemblies.
Title: Crystal structure of the collagen alpha1(VIII) NC1 trimer.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Targeted (4) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BE198922 (e-PCR)
- UniSTS:209230

Col8a1 (e-PCR), detects polymorphism
- UniSTS:507381

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within camera-type eye morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endothelial cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cell-substrate adhesion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IEA Inferred from Electronic Annotation more info
part_of collagen trimer	IEA Inferred from Electronic Annotation 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 extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: collagen alpha-1(VIII) chain

Names: procollagen type VIII 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.