Col6a1 collagen, type VI, alpha 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Col6a1provided by MGI
Official Full Name: collagen, type VI, alpha 1provided by MGI
Primary source: MGI:MGI:88459
See related: Ensembl:ENSMUSG00000001119 AllianceGenome:MGI:88459
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: Col6a-1
Summary: Predicted to enable collagen binding activity and platelet-derived growth factor binding activity. Acts upstream of or within several processes, including extracellular matrix organization; lung development; and skeletal muscle tissue development. Located in sarcolemma. Is active in several cellular components, including lysosome; myofibril; and sarcoplasmic reticulum. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart and pericardium; and sensory organ. Used to study Bethlem myopathy and Ullrich congenital muscular dystrophy. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1A. Orthologous to human COL6A1 (collagen type VI alpha 1 chain). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in subcutaneous fat pad adult (RPKM 393.3), ovary adult (RPKM 227.8) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.71 cM

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (76544626..76561869, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (76708792..76726044, complement)

Chromosome 10 - NC_000076.7 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 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 VI promotes recovery from colitis by inducing lymphangiogenesis and drainage of inflammatory cells.
Title: Collagen VI promotes recovery from colitis by inducing lymphangiogenesis and drainage of inflammatory cells.
Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis.
Title: Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis.
Non-canonical Fzd7 signaling contributes to breast cancer mesenchymal-like stemness involving Col6a1.
Title: Non-canonical Fzd7 signaling contributes to breast cancer mesenchymal-like stemness involving Col6a1.
Type VI collagen and its cleavage product, endotrophin, cooperatively regulate the adipogenic and lipolytic capacity of adipocytes.
Title: Type VI collagen and its cleavage product, endotrophin, cooperatively regulate the adipogenic and lipolytic capacity of adipocytes.
Col6a1(-/-) mice have decreased level of plasma adiponectin.
Title: Role of adiponectin in the metabolism of skeletal muscles in collagen VI-related myopathies.
Collagen VI Deficiency is associated with alveolar and airway abnormalities in the Lung.
Title: Collagen VI Deficiency Results in Structural Abnormalities in the Mouse Lung.
Ex vivo muscle preparations from ColVI null mice revealed altered neuromuscular transmission, with electrophysiological defects and decreased safety factor (i.e., the excess current generated in response to a nerve impulse over that required to reach the action potential threshold).
Title: Collagen VI is required for the structural and functional integrity of the neuromuscular junction.
These data indicated an inhibitory role of ColVI in ENCC migration and suggested that ColVI suppression in the intestine might represent a novel therapeutic strategy for aganglionic colonic diseases.
Title: Collagen VI suppresses fibronectin-induced enteric neural crest cell migration by downregulation of focal adhesion proteins.
Col6a1-/- neural cultures displayed an increased incidence of spontaneous apoptosis and higher vulnerability to oxidative stress, accompanied by altered regulation of autophagy with increased p62 protein levels and decreased LC3 lipidation. Analysis of brain sections confirmed increased apoptosis and abnormal regulation of autophagy in the CNS of collagen VI-deficient animals.
Title: Lack of collagen VI promotes neurodegeneration by impairing autophagy and inducing apoptosis during aging.
This study demonstrates that Col6a1-Cre driver mice are as useful as Twist2-Cre driver mice for functional analyses of GALT-resident mesenchymal cells, including MCi cells.
Title: Targeted deletion of RANKL in M cell inducer cells by the Col6a1-Cre driver.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Col6a1 (e-PCR), detects polymorphism
- UniSTS:141371

AI747156 (e-PCR)
- UniSTS:180058

NoName (e-PCR)
- UniSTS:236390

UniSTS:531308 (e-PCR)
- UniSTS:531308

Col6a1 (e-PCR), detects polymorphism
- UniSTS:531308

Col6a1 (e-PCR), detects polymorphism
- UniSTS:259059

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables collagen binding	ISO Inferred from Sequence Orthology more info	PubMed
enables extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables platelet-derived growth factor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within 2-oxoglutarate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adipose tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within apoptotic nuclear changes	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within basement membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within caveola assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell death	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to amino acid stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within circadian rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within collagen fibril organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within collagen metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endodermal cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within energy homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within energy reserve metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extracellular matrix assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fat cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycolytic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair follicle development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within insulin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within insulin-like growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb joint morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung alveolus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrial depolarization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mitochondrial depolarization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrial transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal locomotion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle structure development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within muscle system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelination in peripheral nervous system	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within organelle organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peripheral nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein lipidation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein tetramerization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within reduction of food intake in response to dietary excess	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell size	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory system process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to UV	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to bleomycin	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to decreased oxygen levels	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to lipid	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to mechanical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to muscle activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to pain	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to peptide	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to polyamine macromolecule	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to reactive oxygen species	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to toxic substance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to wounding	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to wounding	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of mechanical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within single fertilization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal muscle organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tissue remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within transmission of nerve impulse	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tricarboxylic acid cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within uterus development	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
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
is_active_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular matrix	IMP Inferred from Mutant Phenotype more info	PubMed
located_in extracellular region	ISO Inferred from Sequence Orthology more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in intracellular vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
is_active_in myofibril	IMP Inferred from Mutant Phenotype more info	PubMed
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: collagen alpha-1(VI) chain

Names: procollagen, type VI, 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_009933.5 → NP_034063.1 collagen alpha-1(VI) chain precursor

See identical proteins and their annotated locations for NP_034063.1

Status: VALIDATED

Source sequence(s)

AC168276

Consensus CDS

CCDS23952.1

UniProtKB/Swiss-Prot

Q04857

Related

ENSMUSP00000001147.5, ENSMUST00000001147.5

Conserved Domains (2) summary

pfam01391
Location:271 → 328

Collagen; Collagen triple helix repeat (20 copies)

cd01480
Location:823 → 1008

vWA_collagen_alpha_1-VI-type; VWA_collagen alpha(VI) type: The extracellular matrix represents a complex alloy of variable members of diverse protein families defining structural integrity and various physiological functions. The most abundant family is the collagens with more than ...