COL4A3BP
| Collagen, type IV, alpha 3 (Goodpasture antigen) binding protein | |||||||||||
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| Identifiers | |||||||||||
| Symbols | COL4A3BP ; CERT; CERTL; FLJ20597; GPBP; STARD11 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 4173 | ||||||||||
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| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
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Collagen, type IV, alpha 3 (Goodpasture antigen) binding protein, also known as COL4A3BP, is a human gene.[1]
This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Two transcripts exist for this gene.[1]
References
Further reading
- Kalluri R (1999). "Goodpasture syndrome". Kidney Int. 55 (3): 1120–2. doi:10.1046/j.1523-1755.1999.0550031120.x. PMID 10027952.
- Alpy F, Tomasetto C (2005). "Give lipids a START: the StAR-related lipid transfer (START) domain in mammals". J. Cell. Sci. 118 (Pt 13): 2791–801. doi:10.1242/jcs.02485. PMID 15976441.
- Raya A, Revert F, Navarro S, Saus J (1999). "Characterization of a novel type of serine/threonine kinase that specifically phosphorylates the human goodpasture antigen". J. Biol. Chem. 274 (18): 12642–9. PMID 10212244.
- Raya A, Revert-Ros F, Martinez-Martinez P; et al. (2001). "Goodpasture antigen-binding protein, the kinase that phosphorylates the goodpasture antigen, is an alternatively spliced variant implicated in autoimmune pathogenesis". J. Biol. Chem. 275 (51): 40392–9. doi:10.1074/jbc.M002769200. PMID 11007769.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Hanada K, Kumagai K, Yasuda S; et al. (2004). "Molecular machinery for non-vesicular trafficking of ceramide". Nature. 426 (6968): 803–9. doi:10.1038/nature02188. PMID 14685229.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Kumagai K, Yasuda S, Okemoto K; et al. (2005). "CERT mediates intermembrane transfer of various molecular species of ceramides". J. Biol. Chem. 280 (8): 6488–95. doi:10.1074/jbc.M409290200. PMID 15596449.
- Borza DB, Bondar O, Colon S; et al. (2005). "Goodpasture autoantibodies unmask cryptic epitopes by selectively dissociating autoantigen complexes lacking structural reinforcement: novel mechanisms for immune privilege and autoimmune pathogenesis". J. Biol. Chem. 280 (29): 27147–54. doi:10.1074/jbc.M504050200. PMID 15917228.
- Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Granero F, Revert F, Revert-Ros F; et al. (2005). "A human-specific TNF-responsive promoter for Goodpasture antigen-binding protein". FEBS J. 272 (20): 5291–305. doi:10.1111/j.1742-4658.2005.04925.x. PMID 16218959.
- Longo I, Scala E, Mari F; et al. (2006). "Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families". Nephrol. Dial. Transplant. 21 (3): 665–71. doi:10.1093/ndt/gfi312. PMID 16338941.
- Perry RJ, Ridgway ND (2006). "Oxysterol-binding protein and vesicle-associated membrane protein-associated protein are required for sterol-dependent activation of the ceramide transport protein". Mol. Biol. Cell. 17 (6): 2604–16. doi:10.1091/mbc.E06-01-0060. PMID 16571669.
- Kawano M, Kumagai K, Nishijima M, Hanada K (2006). "Efficient trafficking of ceramide from the endoplasmic reticulum to the Golgi apparatus requires a VAMP-associated protein-interacting FFAT motif of CERT". J. Biol. Chem. 281 (40): 30279–88. doi:10.1074/jbc.M605032200. PMID 16895911.
- Kharrat M, Makni S, Makni K; et al. (2006). "Autosomal dominant Alport's syndrome: study of a large Tunisian family". Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia. 17 (3): 320–5. PMID 16970251.
- Olsen JV, Blagoev B, Gnad F; et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- Kumagai K, Kawano M, Shinkai-Ouchi F; et al. (2007). "Interorganelle trafficking of ceramide is regulated by phosphorylation-dependent cooperativity between the PH and START domains of CERT". J. Biol. Chem. 282 (24): 17758–66. doi:10.1074/jbc.M702291200. PMID 17442665.
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