Von Willebrand factor, type C (VWFC or VWC)is a

protein domain In molecular biology, a protein domain is a region of a protein's polypeptide chain that is self-stabilizing and that folds independently from the rest. Each domain forms a compact folded three-dimensional structure. Many proteins consist of s ...

is found in various

blood plasma Blood plasma is a light amber-colored liquid component of blood in which blood cells are absent, but contains proteins and other constituents of whole blood in suspension. It makes up about 55% of the body's total blood volume. It is the intra ...

proteins: complement factors B, C2, CR3 and CR4; the

integrins Integrins are transmembrane receptors that facilitate cell-cell and cell-extracellular matrix (ECM) adhesion. Upon ligand binding, integrins activate signal transduction pathways that mediate cellular signals such as regulation of the cell cycle, ...

(I-domains); collagen types VI, VII, XII and XIV; and other extracellular proteins.

Function

Although the majority of VWA-containing proteins are

extracellular This glossary of biology terms is a list of definitions of fundamental terms and concepts used in biology, the study of life and of living organisms. It is intended as introductory material for novices; for more specific and technical definitions ...

, the most ancient ones present in all eukaryotes are all intracellular proteins involved in functions such as

transcription Transcription refers to the process of converting sounds (voice, music etc.) into letters or musical notes, or producing a copy of something in another medium, including: Genetics * Transcription (biology), the copying of DNA into RNA, the fir ...

DNA repair DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. In human cells, both normal metabolic activities and environmental factors such as radiation can cause DNA dam ...

ribosomal Ribosomes ( ) are macromolecular machines, found within all cells, that perform biological protein synthesis (mRNA translation). Ribosomes link amino acids together in the order specified by the codons of messenger RNA (mRNA) molecules to fo ...

and

membrane A membrane is a selective barrier; it allows some things to pass through but stops others. Such things may be molecules, ions, or other small particles. Membranes can be generally classified into synthetic membranes and biological membranes. B ...

transport and the proteasome. A common feature appears to be involvement in multiprotein complexes. Proteins that incorporate vWF domains participate in numerous biological events (e.g. cell adhesion, migration, homing, pattern formation, and signal transduction), involving interaction with a large array of ligands.

Mutation effects

A number of human diseases arise from mutations in VWA domains. The domain is named after the

von Willebrand factor Von Willebrand factor (VWF) () is a blood glycoprotein involved in hemostasis, specifically, platelet adhesion. It is deficient and/or defective in von Willebrand disease and is involved in many other diseases, including thrombotic thrombocytopen ...

(VWF) type C repeat which is found in multidomain protein/multifunctional proteins involved in maintaining homeostasis. For the von Willebrand factor the duplicated VWFC domain is thought to participate in

oligomerization In chemistry and biochemistry, an oligomer () is a molecule that consists of a few repeating units which could be derived, actually or conceptually, from smaller molecules, monomers.Quote: ''Oligomer molecule: A molecule of intermediate relative ...

, but not in the initial dimerization step. The presence of this region in a number of other complex-forming proteins points to the possible involvement of the VWFC domain in complex formation.

Human proteins containing this domain

* BMP binding endothelial regulator (BMPER) * Cysteine-rich motor neuron 1 protein (CRIM1) * Extracellular matrix protein 2 (ECM2) * Fraser extracellular matrix complex subunit 1 (FRAS1) * Neural EGFL like 1 (NELL1) * Neural EGFL like 2 (NELL2) * Peroxidasin like (PXDNL) * Von Willebrand factor C and EGF domain-containing protein (VWCE) *

Von Willebrand factor Von Willebrand factor (VWF) () is a blood glycoprotein involved in hemostasis, specifically, platelet adhesion. It is deficient and/or defective in von Willebrand disease and is involved in many other diseases, including thrombotic thrombocytopen ...

(VWF)

Chordin family

Chordin Chordin (from Greek χορδή, string, catgut) is a protein with a prominent role in dorsal–ventral patterning during early embryonic development. In humans it is encoded for by the ''CHRD'' gene. History Chordin was originally identified ...

(CHRD) *

Chordin-like 1 Chordin-like 1 is a protein that in humans is encoded by the CHRDL1 gene. Chordin-Like 1 (CHRDL1) is a structural glycoprotein that sits on the X chromosome and specifically encodes Venotropin, which is an antagonistic protein to bone morphogenic ...

(CHRDL1) * Chordin-like 2 (CHRDL2) * Brorin (VWC2)

Collagen Collagen () is the main structural protein in the extracellular matrix found in the body's various connective tissues. As the main component of connective tissue, it is the most abundant protein in mammals, making up from 25% to 35% of the whole ...
family

Collagen, type I, alpha 1 Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is a protein that in humans is encoded by the gene. ''COL1A1'' encodes the major component of type I collagen, the fibrillar collagen found in most connective tissues, including c ...

(COL1A1) *

Collagen, type II, alpha 1 Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), also known as COL2A1, is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen. Function This g ...

(COL2A1) *

Collagen, type III, alpha 1 Type III Collagen is a homotrimer, or a protein composed of three identical peptide chains (monomers), each called an alpha 1 chain of type III collagen. Formally, the monomers are called collagen type III, alpha-1 chain and in humans are encoded ...

(COL3A1) * Collagen, type V, alpha 2 (COL5A2)

Mucin Mucins () are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most animals. Mucins' key characteristic is their ability to form gels; therefore they are a key component in most ...
family

* Mucin 2 (MUC2) * Mucin 5B (MUC5B)

Thrombospondin Thrombospondins (TSPs) are a family of secreted glycoproteins with antiangiogenic functions. Due to their dynamic role within the extracellular matrix they are considered matricellular proteins. The first member of the family, thrombospondin 1 (T ...
superfamily

Thrombospondin 1 Thrombospondin 1, abbreviated as THBS1, is a protein that in humans is encoded by the ''THBS1'' gene. Thrombospondin 1 is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell an ...

(THBS1) * Thrombospondin 2 (THBS2) *

SCO-spondin SCO-spondin is a protein that in humans is encoded by the ''SSPO'' gene. SCO-spondin is secreted by the subcommissural organ, and contributes to commissural axon growth and the formation of Reissner's fiber Reissner's fiber ''(named after Ernst ...

(SSPO)

CCN family

*CCN1: Cysteine-rich angiogenic inducer 61 (CYR61) *CCN2: Connective tissue growth factor (CTGF) *CCN3: Nephroblastoma overexpressed (NOV) *CCN4: WNT1-inducible-signaling pathway protein 1 (WISP1) *CCN5:

WNT1-inducible-signaling pathway protein 2 WNT1-inducible-signaling pathway protein 2, or WISP-2 (also named CCN5) is a matricellular protein that in humans is encoded by the ''WISP2'' gene. Function The CCN family of proteins regulates diverse cellular functions, including cell adhesi ...

(WISP2)

References

{{InterPro content, IPR001007 Von Willebrand factor type C domain Protein domains Protein families