UniProt functional annotation for P09486



	UniProt functional annotation for P09486

UniProt code: P09486.

Organism: Homo sapiens (Human).

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

Function: Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity.

Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269|PubMed:2306517, ECO:0000269|PubMed:3400777, ECO:0000269|PubMed:7495300, ECO:0000269|PubMed:9457905}. Note=In or around the basement membrane.

Developmental stage: Expressed at high levels in tissues undergoing morphogenesis, remodeling and wound repair.

Disease: Osteogenesis imperfecta 17 (OI17) [MIM:616507]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. {ECO:0000269|PubMed:26027498}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the SPARC family. {ECO:0000305}.

Sequence caution: Sequence=AAA60993.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={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:		Appears to regulate cell growth through interactions with the extracellular matrix and cytokines. Binds calcium and copper, several types of collagen, albumin, thrombospondin, PDGF and cell membranes. There are two calcium binding sites; an acidic domain that binds 5 to 8 Ca(2+) with a low affinity and an EF-hand loop that binds a Ca(2+) ion with a high affinity.


Subcellular location:		Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269\|PubMed:2306517, ECO:0000269\|PubMed:3400777, ECO:0000269\|PubMed:7495300, ECO:0000269\|PubMed:9457905}. Note=In or around the basement membrane.
Developmental stage:		Expressed at high levels in tissues undergoing morphogenesis, remodeling and wound repair.
Disease:		Osteogenesis imperfecta 17 (OI17) [MIM:616507]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. {ECO:0000269\|PubMed:26027498}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the SPARC family. {ECO:0000305}.
Sequence caution:		Sequence=AAA60993.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};