InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL4A1

Summary

InnateDB Protein

IDBP-50260.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL4A1

Protein Name

collagen, type IV, alpha 1

Synonyms

arresten; HANAC; ICH; POREN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000364979

InnateDB Gene

IDBG-50258 (COL4A1)

Protein Structure

UniProt Annotation

Function

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. Inhibits expression of hypoxia-inducible factor 1alpha and ERK1/2 and p38 MAPK activation. Ligand for alpha1/beta1 integrin.

Subcellular Localization

Secreted, extracellular space, extracellular matrix, basement membrane.

Disease Associations

Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]: An autosomal dominant disease characterized by weakening of the blood vessels in the brain and retinal arteriolar tortuosity. In affected individuals, stroke is often the first symptom and is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke). Patients also have leukoencephalopathy and may experience seizures and migraine headaches accompanied by visual sensations known as auras. {ECO:0000269PubMed:16598045, ECO:0000269PubMed:17379824, ECO:0000269PubMed:17696175, ECO:0000269PubMed:19477666, ECO:0000269PubMed:20385946}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]: The clinical renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large arteries. {ECO:0000269PubMed:18160688, ECO:0000269PubMed:20818663}. Note=The disease is caused by mutations affecting the gene represented in this entry.Porencephaly 1 (POREN1) [MIM:175780]: A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres, neurologic manifestations, facial paresis, and visual defects. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. {ECO:0000269PubMed:15905400, ECO:0000269PubMed:16107487, ECO:0000269PubMed:19194877}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in placenta. {ECO:0000269PubMed:10811134, ECO:0000269PubMed:16481288}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.

Experimentally validated
Total	18 [view]
Protein-Protein	18 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding
GO:0030023	extracellular matrix constituent conferring elasticity
GO:0048407	platelet-derived growth factor binding

Biological Process

GO:0001569	patterning of blood vessels
GO:0007411	axon guidance
GO:0007420	brain development
GO:0007528	neuromuscular junction development
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process
GO:0030855	epithelial cell differentiation
GO:0048514	blood vessel morphogenesis
GO:0061304	retinal blood vessel morphogenesis
GO:0061333	renal tubule morphogenesis
GO:0071230	cellular response to amino acid stimulus
GO:0071711	basement membrane organization

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005587	collagen type IV trimer
GO:0005604	basement membrane
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix