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

Gene ID: 12837, updated on 5-Mar-2024

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
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Genomic context

See Col8a1 in Genome Data Viewer
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_000082.7Genomic Context describing neighboring genes Neighboring gene cms small ribosomal subunit 1 Neighboring gene filamin A interacting protein 1-like Neighboring gene STARR-positive B cell enhancer ABC_E7469 Neighboring gene STARR-seq mESC enhancer starr_41088 Neighboring gene STARR-positive B cell enhancer ABC_E10913 Neighboring gene predicted gene, 53930 Neighboring gene STARR-positive B cell enhancer ABC_E4181 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:57606921-57607108 Neighboring gene microRNA 1970b Neighboring gene STARR-positive B cell enhancer mm9_chr16:57669432-57669732 Neighboring gene STARR-seq mESC enhancer starr_41090 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene predicted gene, 24039

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

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 
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 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 PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

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.

mRNA and Protein(s)

  1. NM_007739.2NP_031765.2  collagen alpha-1(VIII) chain precursor

    See identical proteins and their annotated locations for NP_031765.2

    Status: VALIDATED

    Source sequence(s)
    AC162943, AK046370, AV334655, BY289783
    Consensus CDS
    CCDS37367.1
    UniProtKB/Swiss-Prot
    B8JJL9, Q00780, Q3TWU7, Q8BGL6, Q921S8, Q9D2V4
    Related
    ENSMUSP00000086745.5, ENSMUST00000089332.5
    Conserved Domains (2) summary
    smart00110
    Location:609744
    C1Q; Complement component C1q domain
    pfam01391
    Location:445502
    Collagen; Collagen triple helix repeat (20 copies)

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_000082.7 Reference GRCm39 C57BL/6J

    Range
    57444619..57575100 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)