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

Gene ID: 12836, updated on 21-May-2024

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
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Genomic context

See Col7a1 in Genome Data Viewer
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_000075.7Genomic Context describing neighboring genes Neighboring gene transmembrane protein 89 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:108838602-108838711 Neighboring gene ubiquinol-cytochrome c reductase core protein 1 Neighboring gene microRNA 711 Neighboring gene STARR-positive B cell enhancer ABC_E192 Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Neighboring gene urocortin 2 Neighboring gene STARR-seq mESC enhancer starr_25229

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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

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)

  1. NM_007738.4NP_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:22332292
    Collagen; Collagen triple helix repeat (20 copies)
    cd00063
    Location:334414
    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:28772932
    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:38202
    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:234318
    fn3; Fibronectin type III domain
    pfam00092
    Location:10551223
    VWA; von Willebrand factor type A domain

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

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    108782654..108813943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)