PDGFC

PDGFC
Identifiers
Aliases	PDGFC, FALLOTEIN, SCDGF, platelet derived growth factor C
External IDs	OMIM: 608452; MGI: 1859631; HomoloGene: 9423; GeneCards: PDGFC; OMA:PDGFC - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	156,971,799 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	81,121,347 bp
RNA expression pattern
	Top expressed in
	parotid gland; ; germinal epithelium; ; tibia; ; parietal pleura; ; periodontal fiber; ; skin of hip; ; kidney tubule; ; metanephric glomerulus; ; seminal vesicula; ; stromal cell of endometrium;
	Top expressed in
	gastrula; ; vas deferens; ; efferent ductule; ; calvaria; ; internal carotid artery; ; tunica media of zone of aorta; ; renal corpuscle; ; vestibular sensory epithelium; ; stroma of bone marrow; ; abdominal wall;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein homodimerization activity; protein binding; growth factor activity; platelet-derived growth factor receptor binding;
Cellular component	Golgi membrane; nucleus; extracellular region; endoplasmic reticulum lumen; membrane; cell surface; extracellular exosome; plasma membrane; extracellular space; cytoplasm; cytosol;
Biological process	positive regulation of ERK1 and ERK2 cascade; cellular response to amino acid stimulus; positive regulation of cell population proliferation; bone development; positive regulation of protein autophosphorylation; positive regulation of phosphatidylinositol 3-kinase signaling; multicellular organism development; activation of transmembrane receptor protein tyrosine kinase activity; central nervous system development; embryo development; positive regulation of cell division; positive regulation of cell migration; positive regulation of DNA replication; positive regulation of MAP kinase activity; animal organ morphogenesis; digestive tract development; regulation of peptidyl-tyrosine phosphorylation; positive regulation of fibroblast proliferation; platelet-derived growth factor receptor signaling pathway; blood coagulation; regulation of signaling receptor activity; embryonic organ development; positive regulation of cold-induced thermogenesis;
	Sources:Amigo / QuickGO
Orthologs
	56034
	54635
	ENSG00000145431
	ENSMUSG00000028019
	Q9NRA1
	Q8CI19
	NM_016205
	NM_019971; NM_001357746
	NP_057289
	NP_064355; NP_001344675
	Wikidata
View/Edit Human	View/Edit Mouse

Platelet-derived growth factor C, also known as PDGF-C, is a 345-amino acid protein that in humans is encoded by the PDGFC gene.^[5]^[6] Platelet-derived growth factors are important in connective tissue growth, survival and function, and consist of disulphide-linked dimers involving two polypeptide chains, PDGF-A and PDGF-B. PDGF-C is a member of the PDGF/VEGF family of growth factors with a unique two-domain structure and expression pattern. PDGF-C was not previously identified with PDGF-A and PDGF-B, possibly because it may be that it is synthesized and secreted as a latent growth factor, requiring proteolytic removal of the N-terminal CUB domain for receptor binding and activation.^[7]

Function

The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain.^[6]

PDGF-C is a key component of the PDGFR-α signaling pathway and has a specific role in palatogenesis and the morphogenesis of the integumentary tissue. The phenotypes of compound mutants imply that PDGF-C and PDGF-A may function as principal ligands for PDGFR-α.^[8]

Mouse knockout studies show that PDGF-C is required for palatogenesis. Although human studies support an etiologic role for several genes in cleft lip and palate etiology (PVRL1, IRF6, and MSX1), expression levels of the mouse homologs of these genes were unaltered in Pdgfc−/− mutant embryos that develop clefts, suggesting that their activity is not related to PDGF-C signaling in palatogenesis, so PDGF-C signaling is a new pathway in palatogenesis.^[9]

Interactions

PDGFC has been shown to interact with PDGFRA.^[10]

PDGF-C is a latent growth factor with proteolytic activation, and the processing enzyme might be controlled by the other CLP-associated genes that may indirectly connect to PDGF-C signaling. Notably, a 30-cM region on human chromosome 4, where the PDGFC gene maps, shows strong linkage association with CLP26, and clinical genetic data further suggest a potential link between PDGFC gene polymorphism and cleft lip and palate.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000145431 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028019 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Hamada T, Ui-Tei K, Miyata Y (June 2000). "A novel gene derived from developing spinal cords, SCDGF, is a unique member of the PDGF/VEGF family". FEBS Lett. 475 (2): 97–102. doi:10.1016/S0014-5793(00)01640-9. PMID 10858496. S2CID 19634520.
^ ^a ^b "Entrez Gene: PDGFC platelet derived growth factor C".
^ Li X, Pontén A, Aase K, Karlsson L, Abramsson A, Uutela M, Bäckström G, Hellström M, Boström H, Li H, Soriano P, Betsholtz C, Heldin CH, Alitalo K, Ostman A, Eriksson U (May 2000). "PDGF-C is a new protease-activated ligand for the PDGF alpha-receptor". Nat. Cell Biol. 2 (5): 302–9. doi:10.1038/35010579. PMID 10806482. S2CID 25066476.
^ ^a ^b Ding H, Wu X, Boström H, Kim I, Wong N, Tsoi B, O'Rourke M, Koh GY, Soriano P, Betsholtz C, Hart TC, Marazita ML, Field LL, Tam PP, Nagy A (October 2004). "A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling". Nat. Genet. 36 (10): 1111–6. doi:10.1038/ng1415. PMID 15361870.
^ Choi SJ, Marazita ML, Hart PS, Sulima PP, Field LL, McHenry TG, Govil M, Cooper ME, Letra A, Menezes R, Narayanan S, Mansilla MA, Granjeiro JM, Vieira AR, Lidral AC, Murray JC, Hart TC (December 2009). "The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P". European Journal of Human Genetics. 17 (11): 774–84. doi:10.1038/ejhg.2008.245. PMC 2788748. PMID 19092777.
^ Gilbertson DG, Duff ME, West JW, Kelly JD, Sheppard PO, Hofstrand PD, Gao Z, Shoemaker K, Bukowski TR, Moore M, Feldhaus AL, Humes JM, Palmer TE, Hart CE (July 2001). "Platelet-derived growth factor C (PDGF-C), a novel growth factor that binds to PDGF alpha and beta receptor". J. Biol. Chem. 276 (29): 27406–14. doi:10.1074/jbc.M101056200. PMID 11297552.

External links

PDGFC human gene location in the UCSC Genome Browser.
PDGFC human gene details in the UCSC Genome Browser.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000145431 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028019 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10858496-5] Hamada T, Ui-Tei K, Miyata Y (June 2000). "A novel gene derived from developing spinal cords, SCDGF, is a unique member of the PDGF/VEGF family". FEBS Lett. 475 (2): 97–102. doi:10.1016/S0014-5793(00)01640-9. PMID 10858496. S2CID 19634520.

[entrez-6] "Entrez Gene: PDGFC platelet derived growth factor C".

[pmid10806482-7] Li X, Pontén A, Aase K, Karlsson L, Abramsson A, Uutela M, Bäckström G, Hellström M, Boström H, Li H, Soriano P, Betsholtz C, Heldin CH, Alitalo K, Ostman A, Eriksson U (May 2000). "PDGF-C is a new protease-activated ligand for the PDGF alpha-receptor". Nat. Cell Biol. 2 (5): 302–9. doi:10.1038/35010579. PMID 10806482. S2CID 25066476.

[pmid15361870-8] Ding H, Wu X, Boström H, Kim I, Wong N, Tsoi B, O'Rourke M, Koh GY, Soriano P, Betsholtz C, Hart TC, Marazita ML, Field LL, Tam PP, Nagy A (October 2004). "A specific requirement for PDGF-C in palate formation and PDGFR-alpha signaling". Nat. Genet. 36 (10): 1111–6. doi:10.1038/ng1415. PMID 15361870.

[pmid19092777-9] Choi SJ, Marazita ML, Hart PS, Sulima PP, Field LL, McHenry TG, Govil M, Cooper ME, Letra A, Menezes R, Narayanan S, Mansilla MA, Granjeiro JM, Vieira AR, Lidral AC, Murray JC, Hart TC (December 2009). "The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P". European Journal of Human Genetics. 17 (11): 774–84. doi:10.1038/ejhg.2008.245. PMC 2788748. PMID 19092777.

[pmid11297552-10] Gilbertson DG, Duff ME, West JW, Kelly JD, Sheppard PO, Hofstrand PD, Gao Z, Shoemaker K, Bukowski TR, Moore M, Feldhaus AL, Humes JM, Palmer TE, Hart CE (July 2001). "Platelet-derived growth factor C (PDGF-C), a novel growth factor that binds to PDGF alpha and beta receptor". J. Biol. Chem. 276 (29): 27406–14. doi:10.1074/jbc.M101056200. PMID 11297552.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

Function

Interactions

References

Further reading

External links