UniProt functional annotation for P12111



	UniProt functional annotation for P12111

UniProt code: P12111.

Organism: Homo sapiens (Human).

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

Function: Collagen VI acts as a cell-binding protein.

Subunit: Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).

Subcellular location: Secreted, extracellular space, extracellular matrix {ECO:0000250}.

Ptm: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. {ECO:0000269|PubMed:1689238}.

Ptm: The N-terminus is blocked.

Disease: Bethlem myopathy 1 (BTHLM1) [MIM:158810]: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269|PubMed:10399756, ECO:0000269|PubMed:15689448, ECO:0000269|PubMed:17886299, ECO:0000269|PubMed:9536084}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]: A congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269|PubMed:15689448}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Dystonia 27 (DYT27) [MIM:616411]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs. {ECO:0000269|PubMed:26004199}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the type VI collagen family. {ECO:0000305}.

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 VI acts as a cell-binding protein.


Subunit:		Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or alpha-6(VI).
Subcellular location:		Secreted, extracellular space, extracellular matrix {ECO:0000250}.
Ptm:		Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. {ECO:0000269\|PubMed:1689238}.
Ptm:		The N-terminus is blocked.
Disease:		Bethlem myopathy 1 (BTHLM1) [MIM:158810]: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269\|PubMed:10399756, ECO:0000269\|PubMed:15689448, ECO:0000269\|PubMed:17886299, ECO:0000269\|PubMed:9536084}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Ullrich congenital muscular dystrophy 1 (UCMD1) [MIM:254090]: A congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269\|PubMed:15689448}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Dystonia 27 (DYT27) [MIM:616411]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT27 is an autosomal recessive form characterized by segmental isolated dystonia involving the face, neck, bulbar muscles, and upper limbs. {ECO:0000269\|PubMed:26004199}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the type VI collagen family. {ECO:0000305}.