AAP43112.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
arresten, partial
NCBI Official Synonym Full Names
collagen, type IV, alpha 1
NCBI Protein Information
collagen alpha-1(IV) chain; collagen alpha-1(IV) chain; COL4A1 NC1 domain; collagen IV, alpha-1 polypeptide; collagen of basement membrane, alpha-1 chain
UniProt Protein Name
Collagen alpha-1(IV) chain
UniProt Entry Name
CO4A1_HUMAN
NCBI Summary for COL4A1
This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]
UniProt Comments for COL4A1
COL4A1: 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. Defects in COL4A1 are a cause of brain small vessel disease with hemorrhage (BSVDH). Brain small vessel diseases underlie 20 to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. Inheritance is autosomal dominant. Defects in COL4A1 are the cause of hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC). 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. Defects in COL4A1 are a cause of familial porencephaly (POREN1). Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. Porencephaly type 1 is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Belongs to the type IV collagen family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Secreted; Extracellular matrix
Chromosomal Location of Human Ortholog: 13q34
Cellular Component: extracellular matrix; endoplasmic reticulum lumen; collagen type IV; extracellular region; basement membrane
Molecular Function: protein binding; platelet-derived growth factor binding; extracellular matrix structural constituent; extracellular matrix constituent conferring elasticity
Biological Process: patterning of blood vessels; receptor-mediated endocytosis; axon guidance; extracellular matrix disassembly; collagen catabolic process; extracellular matrix organization and biogenesis; epithelial cell differentiation; blood vessel morphogenesis; brain development; neuromuscular junction development
Disease: Porencephaly 1; Brain Small Vessel Disease With Or Without Ocular Anomalies; Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps; Hemorrhage, Intracerebral, Susceptibility To; Retinal Arteries, Tortuosity Of
Research Articles on COL4A1
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Products associated with COL4A1 elisa kit
Pathways associated with COL4A1 elisa kit
Diseases associated with COL4A1 elisa kit
Disease Name |
Pubmed Publications |
Kidney Diseases Antibodies |
>24 publications with COL4A1 and Kidney Diseases |
Fibrosis Antibodies |
>17 publications with COL4A1 and Fibrosis |
Disease Models, Animal Antibodies |
>14 publications with COL4A1 and Disease Models, Animal |
Familial porencephaly Antibodies |
>12 publications with COL4A1 and Familial porencephaly |
Inflammation Antibodies |
>8 publications with COL4A1 and Inflammation |
Brain Small Vessel Disease with Hemorrhage Antibodies |
>8 publications with COL4A1 and Brain Small Vessel Disease with Hemorrhage |
Hypertension Antibodies |
>7 publications with COL4A1 and Hypertension |
Hypertrophy Antibodies |
>6 publications with COL4A1 and Hypertrophy |
Heart Diseases Antibodies |
>6 publications with COL4A1 and Heart Diseases |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps Antibodies |
>6 publications with COL4A1 and Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
Organs/Tissues associated with COL4A1 elisa kit
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