UniProt functional annotation for P04275



	UniProt functional annotation for P04275

UniProt code: P04275.

Organism: Homo sapiens (Human).

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

Function: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet- surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.

Subunit: Multimeric. Interacts with F8. {ECO:0000269|PubMed:10961880, ECO:0000269|PubMed:9218428}.

Subcellular location: Secreted {ECO:0000269|PubMed:10961880}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:10961880}. Note=Localized to storage granules.

Tissue specificity: Plasma.

Domain: The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage granules.

Ptm: All cysteine residues are involved in intrachain or interchain disulfide bonds.

Ptm: N- and O-glycosylated. {ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:19139490, ECO:0000269|PubMed:19159218}.

Disease: von Willebrand disease 1 (VWD1) [MIM:193400]: A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. {ECO:0000269|PubMed:10887119, ECO:0000269|PubMed:11698279}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: von Willebrand disease 2 (VWD2) [MIM:613554]: A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. {ECO:0000269|PubMed:12406074, ECO:0000269|PubMed:1409710, ECO:0000269|PubMed:1419803, ECO:0000269|PubMed:1419804, ECO:0000269|PubMed:1420817, ECO:0000269|PubMed:1429668, ECO:0000269|PubMed:1672694, ECO:0000269|PubMed:1673047, ECO:0000269|PubMed:1729889, ECO:0000269|PubMed:1761120, ECO:0000269|PubMed:1832934, ECO:0000269|PubMed:1906179, ECO:0000269|PubMed:2010538, ECO:0000269|PubMed:2011604, ECO:0000269|PubMed:21592258, ECO:0000269|PubMed:2786201, ECO:0000269|PubMed:7620154, ECO:0000269|PubMed:7734373, ECO:0000269|PubMed:7789955, ECO:0000269|PubMed:8011991, ECO:0000269|PubMed:8123843, ECO:0000269|PubMed:8123844, ECO:0000269|PubMed:8338947, ECO:0000269|PubMed:8348943, ECO:0000269|PubMed:8376405, ECO:0000269|PubMed:8435341, ECO:0000269|PubMed:8486782, ECO:0000269|PubMed:8547152, ECO:0000269|PubMed:8622978}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: von Willebrand disease 3 (VWD3) [MIM:277480]: A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses. {ECO:0000269|PubMed:10887119, ECO:0000269|PubMed:7989040, ECO:0000269|PubMed:8088787}. Note=The disease is caused by variants affecting the gene represented in this entry.

Sequence caution: Sequence=AAB59512.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-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:		Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet- surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.


Subunit:		Multimeric. Interacts with F8. {ECO:0000269\|PubMed:10961880, ECO:0000269\|PubMed:9218428}.
Subcellular location:		Secreted {ECO:0000269\|PubMed:10961880}. Secreted, extracellular space, extracellular matrix {ECO:0000269\|PubMed:10961880}. Note=Localized to storage granules.
Tissue specificity:		Plasma.
Domain:		The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage granules.
Ptm:		All cysteine residues are involved in intrachain or interchain disulfide bonds.
Ptm:		N- and O-glycosylated. {ECO:0000269\|PubMed:14760718, ECO:0000269\|PubMed:19139490, ECO:0000269\|PubMed:19159218}.
Disease:		von Willebrand disease 1 (VWD1) [MIM:193400]: A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. {ECO:0000269\|PubMed:10887119, ECO:0000269\|PubMed:11698279}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		von Willebrand disease 2 (VWD2) [MIM:613554]: A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. {ECO:0000269\|PubMed:12406074, ECO:0000269\|PubMed:1409710, ECO:0000269\|PubMed:1419803, ECO:0000269\|PubMed:1419804, ECO:0000269\|PubMed:1420817, ECO:0000269\|PubMed:1429668, ECO:0000269\|PubMed:1672694, ECO:0000269\|PubMed:1673047, ECO:0000269\|PubMed:1729889, ECO:0000269\|PubMed:1761120, ECO:0000269\|PubMed:1832934, ECO:0000269\|PubMed:1906179, ECO:0000269\|PubMed:2010538, ECO:0000269\|PubMed:2011604, ECO:0000269\|PubMed:21592258, ECO:0000269\|PubMed:2786201, ECO:0000269\|PubMed:7620154, ECO:0000269\|PubMed:7734373, ECO:0000269\|PubMed:7789955, ECO:0000269\|PubMed:8011991, ECO:0000269\|PubMed:8123843, ECO:0000269\|PubMed:8123844, ECO:0000269\|PubMed:8338947, ECO:0000269\|PubMed:8348943, ECO:0000269\|PubMed:8376405, ECO:0000269\|PubMed:8435341, ECO:0000269\|PubMed:8486782, ECO:0000269\|PubMed:8547152, ECO:0000269\|PubMed:8622978}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		von Willebrand disease 3 (VWD3) [MIM:277480]: A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses. {ECO:0000269\|PubMed:10887119, ECO:0000269\|PubMed:7989040, ECO:0000269\|PubMed:8088787}. Note=The disease is caused by variants affecting the gene represented in this entry.
Sequence caution:		Sequence=AAB59512.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};