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This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
COL3A1 (Collagen Type III Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL3A1 include Ehlers-Danlos Syndrome, Vascular Type and Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include integrin binding and SMAD binding. An important paralog of this gene is COL1A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002020 | protease binding | IPI | 19932771 |
GO:0005178 | integrin binding | NAS | 14970208 |
GO:0005201 | extracellular matrix structural constituent | IMP | 7487954 |
GO:0005515 | protein binding | IPI | 2839553 |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 25037231 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005581 | collagen trimer | IEA | -- |
GO:0005586 | collagen type III trimer | IBA,NAS | 1672129 |
GO:0005615 | extracellular space | IBA,NAS | 9036918 |
GO:0005788 | endoplasmic reticulum lumen | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
|
|
2 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Phospholipase-C Pathway |
Phospholipase-C Pathway
.56
|
PTEN Pathway
.56
|
5 | Binding and Uptake of Ligands by Scavenger Receptors |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IEA | -- |
GO:0001568 | blood vessel development | IEA | -- |
GO:0007160 | cell-matrix adhesion | IDA | 16912226 |
GO:0007179 | transforming growth factor beta receptor signaling pathway | IDA | 16360482 |
GO:0007229 | integrin-mediated signaling pathway | IMP | 14970208 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Collagenase | Approved, Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37a | · | 37b | ^ | 38a | · | 38b | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 45 | ^ | 46 | ^ | 47 | ^ | 48a | · | 48b | · | 48c | ^ | 49 | ^ | 50a | · | 50b | ^ | 51a | · | 51b | ^ | 52a | · | 52b | · | 52c | · | 52d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | |||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL3A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL3A1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL3A1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Col3a1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col3a1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | COL3A1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COL3A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COL3A1 30 |
|
||
-- 31 |
|
ManyToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | COL3A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | col3a1 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cg25C 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7880 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
101134 | Pathogenic: Ehlers-Danlos syndrome, type 4 | 188,994,960(+) | ATGACATAAAAATATT | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
101300 | Pathogenic: Ehlers-Danlos syndrome, type 4 | 188,996,507(+) | TCATTAATTTCTTCAA | ||
101348 | Pathogenic: Ehlers-Danlos syndrome, type 4 | 189,006,076(+) | TAAGATTTCTTACCCC | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
101394 | Pathogenic: Ehlers-Danlos syndrome, type 4 | 188,988,189(+) | ATATATATTCTGCTAT | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT | |
101415 | Pathogenic: Ehlers-Danlos syndrome, type 4 | 189,005,609(+) | AGGATAGACTTAAAAG | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv7233n54 | CNV | loss | 21841781 |
dgv7234n54 | CNV | loss | 21841781 |
esv1030122 | CNV | deletion | 17803354 |
esv2203663 | CNV | deletion | 18987734 |
esv2721255 | CNV | deletion | 23290073 |
esv2721256 | CNV | deletion | 23290073 |
esv2721257 | CNV | deletion | 23290073 |
esv3360634 | CNV | insertion | 20981092 |
esv3371950 | CNV | insertion | 20981092 |
esv3893522 | CNV | loss | 25118596 |
esv990670 | CNV | deletion | 20482838 |
esv993048 | CNV | deletion | 20482838 |
nsv1114155 | CNV | deletion | 24896259 |
nsv459992 | CNV | loss | 19166990 |
nsv834490 | CNV | gain | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ehlers-danlos syndrome, vascular type |
|
|
polymicrogyria with or without vascular-type ehlers-danlos syndrome |
|
|
acrogeria, gottron type |
|
|
familial thoracic aortic aneurysm and aortic dissection |
|
|
visual epilepsy |
|
|