COL3A1 - collagen type III alpha 1 chain Gene
Also Known as EDS4A; EDSVASC; PMGEDSV
Species: Homo sapiens
About COL3A1
This gene has 6 transcripts (splice variants), 107 orthologues, 37 paralogues and is associated with 98 phenotypes. Biased expression in gall bladder (RPKM 1491.0), placenta (RPKM 1173.3) and 12 other tissues.
Summary
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 type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]
COL3A1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000090.4 | NP_000081.2 | collagen alpha-1(III) chain preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables extracellular matrix structural constituent |
IMP
IMP: Inferred from mutant phenotype
|
7487954 | GOA |
| enables integrin binding |
IMP
IMP: Inferred from mutant phenotype
|
9573018 | GOA |
| enables platelet-derived growth factor binding |
IDA
IDA: Inferred from direct assay
|
8900172 | GOA |
| enables protease binding |
IPI
IPI: Inferred from physical interaction
|
19932771 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
2839553 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of collagen type III trimer |
IDA
IDA: Inferred from direct assay
|
19932771 | GOA |
| part of collagen type III trimer |
IMP
IMP: Inferred from mutant phenotype
|
7487954 | GOA |
| part of collagen type III trimer |
IPI
IPI: Inferred from physical interaction
|
18805790 | GOA |
| located in collagen-containing extracellular matrix |
IMP
IMP: Inferred from mutant phenotype
|
7487954 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
7487954 | GOA |
COL3A1 Protein Structure
VWC: von Willebrand factor type C domain (32 - 88)
Collagen: Collagen triple helix repeat (20 copies) (102 - 139)
Collagen: Collagen triple helix repeat (20 copies) (171 - 226)
Collagen: Collagen triple helix repeat (20 copies) (201 - 258)
Collagen: Collagen triple helix repeat (20 copies) (294 - 352)
Collagen: Collagen triple helix repeat (20 copies) (354 - 412)
Collagen: Collagen triple helix repeat (20 copies) (474 - 532)
Collagen: Collagen triple helix repeat (20 copies) (534 - 592)
Collagen: Collagen triple helix repeat (20 copies) (959 - 1015)
Collagen: Collagen triple helix repeat (20 copies) (1077 - 1135)
Collagen: Collagen triple helix repeat (20 copies) (1137 - 1195)
COLFI: Fibrillar collagen C-terminal domain (1249 - 1465)
- 0
- 300
- 600
- 900
- 1200
- 1466 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
collagen alpha-1(III) chain |
|
COL3A1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81101 | Collagen III Antibody | WB, ELISA, IHC-P, IHC-F, ICC/IF | Human, Dog, Rabbit |
| HY-P83919 | Collagen III Antibody (YA3616) | IHC-P, FC, ELISA | Human |
| HY-P83919A | Collagen III Antibody (YA3616)(PBS only) | IHC-P, FC, ELISA | Human |
| HY-P86627 | Collagen III Antibody (YA6319) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ehlers-Danlos Syndrome, Vascular Type |
|
|
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
|
| Ehlers-Danlos Syndrome |
|
|
| Acrogeria, Gottron Type |
|
|
| Aortic Aneurysm, Familial Thoracic 4 |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Familial Abdominal Aortic Aneurysm |
|
|
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
|
| Aortic Dissection |
|
|
| Familial Cerebral Saccular Aneurysm |
|
|
| Loeys-Dietz Syndrome |
|
|
| Hypermobile Ehlers-Danlos Syndrome |
|
|
| Lipoblastoma |
|
|
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
|
| Pelvic Organ Prolapse |
|
|
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
|
| Marfan Syndrome |
|
|
| Brittle Bone Disorder |
|
|
| Breast Scirrhous Carcinoma |
|
|
| Collagen Disease |
|
|
| Hypermobility Syndrome |
|
|
| Splenic Artery Aneurysm |
|
|
| Aortic Valve Disease 1 |
|
|
| Aortic Aneurysm |
|
|
| Connective Tissue Disease |
|
|
| Varicose Veins |
|
|
| Polymicrogyria |
|
|
| Congenital Disorder Of Glycosylation, Type Iic |
|
|
| Placenta Disease |
|
|
| Carotid Artery Dissection |
|
|
| Hemopneumothorax |
|
|
| Arterial Tortuosity Syndrome |
|
|
| Pulsating Exophthalmos |
|
|
| Tricuspid Valve Prolapse |
|
|
| Plantar Fascial Fibromatosis |
|
|
| Vascular Disease |
|
|
| Myocardial Infarction |
|
|
| Orthostatic Intolerance |
|
|
| Stickler Syndrome, Type I |
|
|
| Prolapse Of Urethra |
|
|
| Aortic Disease |
|
|
| Loeys-Dietz Syndrome 1 |
|
|
| Amebiasis |
|
|
| Cerebral Arterial Disease |
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
|
| Inguinal Hernia |
|
|
| Bethlem Myopathy 1 |
|
|
| Aortic Aneurysm, Familial Abdominal, 1 |
|
|
| Stickler Syndrome |
|
|
| Interstitial Lung Disease 2 |
|
|
| Osteochondrodysplasia |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Hypertension, Essential |
|
|
| Williams-Beuren Syndrome |
|
|
| Dilated Cardiomyopathy |
|
|
| Hypertrophic Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | COL3A1 | RGD | RGD:71029 |
| Mus musculus | COL3A1 | MGD | MGI:88453 |
| Canis familiaris | COL3A1 | VGNC | VGNC:39472 |
| Macaca mulatta | COL3A1 | VGNC | VGNC:71296 |
| Bos taurus | COL3A1 | VGNC | VGNC:27565 |
| Felis catus | COL3A1 | VGNC | VGNC:61059 |
| Others | COL3A1 | NCBI |