COL4A1 - collagen type IV alpha 1 chain Gene
Also Known as BSVD; BSVD1; RATOR; PADMAL; COL4A1s
Species: Homo sapiens
About COL4A1
Biased expression in placenta (RPKM 204.1), fat (RPKM 72.2) and 9 other tissues.
Summary
This gene encodes a type IV Collagen alpha protein. Type IV Collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with Other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
COL4A1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001303110.2 | NP_001290039.1 | collagen alpha-1(IV) chain isoform 2 precursor |
| NM_001845.6 | NP_001836.3 | collagen alpha-1(IV) chain isoform 1 preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables extracellular matrix structural constituent |
IMP
IMP: Inferred from mutant phenotype
|
20818663 | GOA |
| enables extracellular matrix structural constituent conferring tensile strength |
IMP
IMP: Inferred from mutant phenotype
|
16107487 | GOA |
| enables platelet-derived growth factor binding |
IDA
IDA: Inferred from direct assay
|
8900172 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12011424 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in basement membrane organization |
IMP
IMP: Inferred from mutant phenotype
|
18160688 | GOA |
| involved in blood vessel morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
20818663 | GOA |
| involved in brain development |
IMP
IMP: Inferred from mutant phenotype
|
16107487 | GOA |
| involved in branching involved in blood vessel morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
20818663 | GOA |
| involved in renal tubule morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
18160688 | GOA |
| involved in retinal blood vessel morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
20818663 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of collagen type IV trimer |
IMP
IMP: Inferred from mutant phenotype
|
16107487 | GOA |
COL4A1 Protein Structure
Collagen: Collagen triple helix repeat (20 copies) (46 - 103)
Collagen: Collagen triple helix repeat (20 copies) (64 - 119)
Collagen: Collagen triple helix repeat (20 copies) (103 - 160)
Collagen: Collagen triple helix repeat (20 copies) (172 - 221)
Collagen: Collagen triple helix repeat (20 copies) (275 - 331)
Collagen: Collagen triple helix repeat (20 copies) (378 - 426)
Collagen: Collagen triple helix repeat (20 copies) (405 - 465)
Collagen: Collagen triple helix repeat (20 copies) (474 - 532)
Collagen: Collagen triple helix repeat (20 copies) (541 - 590)
Collagen: Collagen triple helix repeat (20 copies) (645 - 688)
Collagen: Collagen triple helix repeat (20 copies) (690 - 735)
Collagen: Collagen triple helix repeat (20 copies) (743 - 796)
Collagen: Collagen triple helix repeat (20 copies) (779 - 835)
Collagen: Collagen triple helix repeat (20 copies) (839 - 895)
Collagen: Collagen triple helix repeat (20 copies) (885 - 937)
Collagen: Collagen triple helix repeat (20 copies) (948 - 1005)
Collagen: Collagen triple helix repeat (20 copies) (999 - 1056)
Collagen: Collagen triple helix repeat (20 copies) (1058 - 1116)
Collagen: Collagen triple helix repeat (20 copies) (1110 - 1162)
Collagen: Collagen triple helix repeat (20 copies) (1174 - 1229)
Collagen: Collagen triple helix repeat (20 copies) (1384 - 1440)
C4: C-terminal tandem repeated domain in type 4 procollagen (1445 - 1553)
C4: C-terminal tandem repeated domain in type 4 procollagen (1555 - 1667)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1669 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
collagen alpha-1(IV) chain |
|
COL4A1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
COL4A1 | P02462 | COL4A2 | Homo sapiens | P08572 | 12011424 | |
|
Intra
|
COL4A1 | P02462 | COL4A2 | Homo sapiens | P08572 | 12011424 |
Recombinant COL4A1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P71444 | COL4A1 Protein, Human (GST) | P02462 (G30-P167) | ≥ 90%, as determined by reducing SDS-PAGE. |
COL4A1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81201 | Collagen IV Antibody | ELISA, IHC-P, IHC-F, FC, ICC/IF | Human |
| HY-P86639 | Collagen IV Antibody (YA6331) | WB, IHC-P, ICC/IF, IP, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Retinal Arteries, Tortuosity Of |
|
|
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
|
| Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
|
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
|
| Hemorrhage, Intracerebral |
|
|
| Cerebral Palsy |
|
|
| Porencephaly |
|
|
| Col4a1-Related Disorders |
|
|
| Brain Small Vessel Disease 1 |
|
|
| Familial Porencephaly |
|
|
| Schizencephaly |
|
|
| Optic Nerve Hypoplasia, Bilateral |
|
|
| Walker-Warburg Syndrome |
|
|
| Colpocephaly |
|
|
| Brain Small Vessel Disease |
|
|
| Anterior Segment Dysgenesis |
|
|
| Cerebrovascular Disease |
|
|
| Cakut |
|
|
| Anterior Segment Dysgenesis 1 |
|
|
| Hydranencephaly |
|
|
| Hemiplegia |
|
|
| Alport Syndrome |
|
|
| Spastic Hemiplegia |
|
|
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
|
| Brain Small Vessel Disease 3 |
|
|
| Brain Small Vessel Disease 2 |
|
|
| Microcephaly |
|
|
| Phacolytic Glaucoma |
|
|
| X-Linked Alport Syndrome |
|
|
| Pseudo-Torch Syndrome 1 |
|
|
| Peters-Plus Syndrome |
|
|
| Spastic Cerebral Palsy |
|
|
| Combined Oxidative Phosphorylation Deficiency 13 |
|
|
| Autosomal Recessive Alport Syndrome |
|
|
| Hematuria, Benign Familial |
|
|
| Keratoconus |
|
|
| Autosomal Dominant Alport Syndrome |
|
|
| Aortic Valve Prolapse |
|
|
| Kidney Disease |
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
|
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
|
| Cataract |
|
|
| Axenfeld-Rieger Syndrome |
|
|
| Colorectal Cancer |
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
|
| Cerebral Degeneration |
|
|
| Amebiasis |
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
|
| Meningioma, Familial |
|
|
| Ehlers-Danlos Syndrome |
|
|
| Leukodystrophy |
|
|
| Patent Foramen Ovale |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | COL4A1 | VGNC | VGNC:39473 |
| Felis catus | COL4A1 | VGNC | VGNC:61060 |
| Rattus norvegicus | COL4A1 | RGD | RGD:1307148 |
| Mus musculus | COL4A1 | MGD | MGI:88454 |
| Bos taurus | COL4A1 | VGNC | VGNC:50081 |
| Macaca mulatta | COL4A1 | VGNC | VGNC:71297 |
| Others | COL4A1 | NCBI |