Col3a1
Gene Detail

Symbol Name ID

Col3a1 collagen, type III, alpha 1 MGI:88453

Synonyms

Col3a-1

Feature Type

protein coding gene

Genetic Map

Chromosome 1

23.67 cM
Detailed Genetic Map ± 1 cM


Mapping data(17)

Sequence Map

Chr1:45311538-45349706 bp, + strand From VEGA annotation of GRCm38   38169 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:55433  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken

Gene Tree: Col3a1

Human homologs

Human Homolog		COL3A1, collagen, type III, alpha 1
NCBI Gene ID		1281
neXtProt AC		NX_P02461
Human Synonyms		EDS4A
Human Chr (Location)		2q31; chr2:189839099-189877472 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human COL3A1

Alleles and phenotypes

All alleles(4) : Targeted(3) Spontaneous(1)
 

Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death.

 
Human Diseases Modeled Using Mouse Col3a1 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (30 annotations)

Process	blood vessel development, cell-matrix adhesion, ...
Component	collagen, collagen type III, ...
Function	extracellular matrix structural constituent, integrin binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (52 records)
Data Summary: Results (409)    Tissues (172)    Images (51)
Theiler Stages: 15, 17, 19, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	399
RT-PCR	10

cDNA source data(1125)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(1136) Genomic(6) cDNA(1126) Primer pair(3) Other(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000021335 (Evidence)
Ensembl Gene Model	ENSMUSG00000026043 (Evidence)
Entrez Gene	12825 (Evidence)
UniGene	249555
DFCI	TC1573630, TC1617397, TC1664840, TC1727621
DoTS	DT.101184276, DT.101242375, DT.101406451, DT.87042571, DT.94332183, DT.94354293, DT.99867153
NIA Mouse Gene Index	U000236
Consensus CDS Project	CCDS35554.1
International Mouse Knockout Project Status	Col3a1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021335	VEGA Gene Model | MGI Sequence Detail	38169	C57BL/6J
transcript	OTTMUST00000050577	VEGA | MGI Sequence Detail	5564	Not Applicable
polypeptide	OTTMUSP00000023637	VEGA | MGI Sequence Detail	1464	Not Applicable

All sequences(73) RefSeq(2) UniProt(12)

Polymorphisms

RFLP(4) : SNPs(208 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008160	Collagen triple helix repeat
InterPro	IPR000885	Fibrillar collagen, C-terminal
InterPro	IPR001007	von Willebrand factor, type C
Protein Ontology	PR:000003328	collagen alpha-1(III) chain

References

(Earliest) J:20241 Liau G, et al., Coordinate regulation of the levels of type III and type I collagen mRNA in most but not all mouse fibroblasts. J Biol Chem. 1985 Jan 10;260(1):531-6
(Latest) J:187339 Jeong SJ, et al., Characterization of G protein-coupled receptor 56 protein expression in the mouse developing neocortex. J Comp Neurol. 2012 Sep 1;520(13):2930-40
All references(115)

Other accession IDs

MGD-MRK-2064, MGD-MRK-2065, MGI:2138608