Col7a1 collagen, type VII, alpha 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Col7a1provided by MGI
Official Full Name: collagen, type VII, alpha 1provided by MGI
Primary source: MGI:MGI:88462
See related: Ensembl:ENSMUSG00000025650 AllianceGenome:MGI:88462
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
Summary: Enables identical protein binding activity. Predicted to act upstream of or within cell adhesion and negative regulation of peptidase activity. Located in basement membrane. Is expressed in glomerular basement membrane of mature renal corpuscle; pigmented retinal epithelium; skin; and surface ectoderm. Used to study recessive dystrophic epidermolysis bullosa. Human ortholog(s) of this gene implicated in epidermolysis bullosa dystrophica (multiple) and nonsyndromic congenital nail disorder 8. Orthologous to human COL7A1 (collagen type VII alpha 1 chain). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in limb E14.5 (RPKM 4.6), subcutaneous fat pad adult (RPKM 3.7) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 F2; 9 59.63 cM

Exon count:: 119

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (108782654..108813943)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (108953586..108984875)

Chromosome 9 - NC_000075.7 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?

Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
Title: Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
Biophysical characterization of a pathogenic type VII collagen mutant is presented. The pathogenic mutant lowers thermal stability of the type VII collagen domain. Due to unfolding, protease cleavage sites in the domain become accessible.
Title: A type VII collagen subdomain mutant is thermolabile and shows enhanced proteolytic degradability - Implications for the pathogenesis of recessive dystrophic epidermolysis bullosa?
specifically binds and sequesters the innate immune activator cochlin in the lumen of lymphoid conduits
Title: Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa.
miR-29 Regulates COL7A1 in Recessive Dystrophic Epidermolysis Bullosa, directly through targeting its 3' untranslated region at two distinct seed regions and indirectly through targeting an essential transcription factor required for basal COL7A1 expression, SP1
Title: miR-29 Regulates Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa.
autoantibodies to COL7, independent of the targeted epitopes, induce blisters both ex vivo and in vivo
Title: Autoantibodies to Multiple Epitopes on the Non-Collagenous-1 Domain of Type VII Collagen Induce Blisters.
The cystine knot is N-terminal to the collagen triple helix in in collagen type VII and IX and therefore probably impedes unfolding of the collagen triple helix from the N terminus.
Title: The cysteine-rich region of type VII collagen is a cystine knot with a new topology.
COL7A1 is required for re-epithelialization through organization of laminin-332 at the dermal-epidermal junction during wound healing.
Title: Collagen VII plays a dual role in wound healing.
COL7 regulates ameloblast differentiation and is essential for the formation of Tomes' processes.
Title: Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts.
Tissue-bound, but not circulating, complement-fixing COL7-specific autoantibodies are associated with T helper type (Th)1 cell type cytokine expression and response in mice seusceptible to epidermolysis bullosa acquisita.
Title: Complement-fixing anti-type VII collagen antibodies are induced in Th1-polarized lymph nodes of epidermolysis bullosa acquisita-susceptible mice.
An interaction of mvWFA2 with its neighboring domain mFNIII-9 was characterized with NMR spectroscopy and SPR
Title: Insight into interactions of the von-Willebrand-factor-A-like domain 2 with the FNIII-like domain 9 of collagen VII by NMR and SPR.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW209154 (e-PCR)
- UniSTS:179978

RH118330 (e-PCR)
- UniSTS:160967

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
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables peptidase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables serine-type endopeptidase inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of peptidase activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_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
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
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(VII) chain

Names: LC collagen; long-chain collagen; procollagen, type VII, 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_007738.4 → NP_031764.2 collagen alpha-1(VII) chain precursor

See identical proteins and their annotated locations for NP_031764.2

Status: VALIDATED

Source sequence(s)

AC140383

Consensus CDS

CCDS40770.1

UniProtKB/Swiss-Prot

Q63870, Q78EC6

Related

ENSMUSP00000107701.2, ENSMUST00000112070.8

Conserved Domains (6) summary

pfam01391
Location:2233 → 2292

Collagen; Collagen triple helix repeat (20 copies)

cd00063
Location:334 → 414

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd00109
Location:2877 → 2932

KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.

cd01482
Location:38 → 202

vWA_collagen_alphaI-XII-like; Collagen: 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 20 different ...

pfam00041
Location:234 → 318

fn3; Fibronectin type III domain

pfam00092
Location:1055 → 1223

VWA; von Willebrand factor type A domain