UniProt functional annotation for P02461



	UniProt functional annotation for P02461

UniProt code: P02461.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.

Subunit: Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines. Interacts with ADGRG1 (PubMed:28258187). {ECO:0000269|PubMed:28258187}.

Subcellular location: Secreted, extracellular space, extracellular matrix {ECO:0000255|PROSITE-ProRule:PRU00793}.

Domain: The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function.

Ptm: Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. {ECO:0000269|PubMed:557335, ECO:0000269|PubMed:7016180}.

Ptm: O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.

Disease: Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]: A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. {ECO:0000269|PubMed:10706896, ECO:0000269|PubMed:10923041, ECO:0000269|PubMed:11168790, ECO:0000269|PubMed:12694234, ECO:0000269|PubMed:12786757, ECO:0000269|PubMed:1352273, ECO:0000269|PubMed:1357232, ECO:0000269|PubMed:1370809, ECO:0000269|PubMed:1496983, ECO:0000269|PubMed:1895316, ECO:0000269|PubMed:2243125, ECO:0000269|PubMed:2349939, ECO:0000269|PubMed:2492273, ECO:0000269|PubMed:2808425, ECO:0000269|PubMed:7749417, ECO:0000269|PubMed:7833919, ECO:0000269|PubMed:7912131, ECO:0000269|PubMed:8019562, ECO:0000269|PubMed:8098182, ECO:0000269|PubMed:8411057, ECO:0000269|PubMed:8514866, ECO:0000269|PubMed:8664902, ECO:0000269|PubMed:8680408, ECO:0000269|PubMed:8884076, ECO:0000269|PubMed:8990011, ECO:0000269|PubMed:9036918, ECO:0000269|PubMed:9147870, ECO:0000269|PubMed:9452103, ECO:0000269|Ref.50, ECO:0000269|Ref.55}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) [MIM:618343]: An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur. {ECO:0000269|PubMed:19455184, ECO:0000269|PubMed:25205403, ECO:0000269|PubMed:28258187, ECO:0000269|PubMed:28742248}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the fibrillar collagen family. {ECO:0000255|PROSITE-ProRule:PRU00793}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.


Subunit:		Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines. Interacts with ADGRG1 (PubMed:28258187). {ECO:0000269\|PubMed:28258187}.
Subcellular location:		Secreted, extracellular space, extracellular matrix {ECO:0000255\|PROSITE-ProRule:PRU00793}.
Domain:		The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function.
Ptm:		Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. {ECO:0000269\|PubMed:557335, ECO:0000269\|PubMed:7016180}.
Ptm:		O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
Disease:		Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050]: A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas. {ECO:0000269\|PubMed:10706896, ECO:0000269\|PubMed:10923041, ECO:0000269\|PubMed:11168790, ECO:0000269\|PubMed:12694234, ECO:0000269\|PubMed:12786757, ECO:0000269\|PubMed:1352273, ECO:0000269\|PubMed:1357232, ECO:0000269\|PubMed:1370809, ECO:0000269\|PubMed:1496983, ECO:0000269\|PubMed:1895316, ECO:0000269\|PubMed:2243125, ECO:0000269\|PubMed:2349939, ECO:0000269\|PubMed:2492273, ECO:0000269\|PubMed:2808425, ECO:0000269\|PubMed:7749417, ECO:0000269\|PubMed:7833919, ECO:0000269\|PubMed:7912131, ECO:0000269\|PubMed:8019562, ECO:0000269\|PubMed:8098182, ECO:0000269\|PubMed:8411057, ECO:0000269\|PubMed:8514866, ECO:0000269\|PubMed:8664902, ECO:0000269\|PubMed:8680408, ECO:0000269\|PubMed:8884076, ECO:0000269\|PubMed:8990011, ECO:0000269\|PubMed:9036918, ECO:0000269\|PubMed:9147870, ECO:0000269\|PubMed:9452103, ECO:0000269\|Ref.50, ECO:0000269\|Ref.55}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) [MIM:618343]: An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur. {ECO:0000269\|PubMed:19455184, ECO:0000269\|PubMed:25205403, ECO:0000269\|PubMed:28258187, ECO:0000269\|PubMed:28742248}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the fibrillar collagen family. {ECO:0000255\|PROSITE-ProRule:PRU00793}.