Protein 1 kritične regije sindroma mačijeg oka jest protein koji je kod ljudi kodiran genom CECR1 sa hromosoma 22.[3][4]
Kratke činjenice Dostupne strukture, PDB ...
Zatvori
Dužina polipeptidnog lanca je 511 aminokiselina, a molekulska težina
58.934 Da.[4]
10 | | 20 | | 30 | | 40 | | 50 |
MLVDGPSERP | | ALCFLLLAVA | | MSFFGSALSI | | DETRAHLLLK | | EKMMRLGGRL |
VLNTKEELAN | | ERLMTLKIAE | | MKEAMRTLIF | | PPSMHFFQAK | | HLIERSQVFN |
ILRMMPKGAA | | LHLHDIGIVT | | MDWLVRNVTY | | RPHCHICFTP | | RGIMQFRFAH |
PTPRPSEKCS | | KWILLEDYRK | | RVQNVTEFDD | | SLLRNFTLVT | | QHPEVIYTNQ |
NVVWSKFETI | | FFTISGLIHY | | APVFRDYVFR | | SMQEFYEDNV | | LYMEIRARLL |
PVYELSGEHH | | DEEWSVKTYQ | | EVAQKFVETH | | PEFIGIKIIY | | SDHRSKDVAV |
IAESIRMAMG | | LRIKFPTVVA | | GFDLVGHEDT | | GHSLHDYKEA | | LMIPAKDGVK |
LPYFFHAGET | | DWQGTSIDRN | | ILDALMLNTT | | RIGHGFALSK | | HPAVRTYSWK |
KDIPIEVCPI | | SNQVLKLVSD | | LRNHPVATLM | | ATGHPMVISS | | DDPAMFGAKG |
LSYDFYEVFM | | GIGGMKADLR | | TLKQLAMNSI | | KYSTLLESEK | | NTFMEIWKKR |
WDKFIADVAT | | K |
Ovaj gen kodira člana [[porodica protein
a|porodice proteina]] iz potporodice adenozin-deaminaza. Kodirani protein može djelovati kao faktor rasta i imati aktivnost adenozin-deaminaza. Može biti odgovoran za neke od fenotipskih karakteristika povezanih sa sindromom mačijeg oka. Za ovaj gen su identificirane dvije varijante transkripta koje kodiraju različite izoforme.[4]
Riazi MA, Brinkman-Mills P, Nguyen T, Pan H, Phan S, Ying F, Roe BA, Tochigi J, Shimizu Y, Minoshima S, Shimizu N, Buchwald M, McDermid HE (May 2000). "The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome". Genomics. 64 (3): 277–85. doi:10.1006/geno.1999.6099. PMID 10756095.
- Charlab R, Valenzuela JG, Andersen J, Ribeiro JM (2001). "The invertebrate growth factor/CECR1 subfamily of adenosine deaminase proteins". Gene. 267 (1): 13–22. doi:10.1016/S0378-1119(01)00393-6. PMID 11311551.
- 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. PMC 139241. PMID 12477932.
- 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.
- Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
- 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. PMC 528928. PMID 15489334.
- Zavialov AV, Engström A (2006). "Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity". Biochem. J. 391 (Pt 1): 51–7. doi:10.1042/BJ20050683. PMC 1237138. PMID 15926889.
- Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.