Protein Family Models

DCAF17, DDB1- and CUL4-associated factor 17, is a family of proteins found in eukaryotes. It may function as a substrate-receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex [1]. Mutations in the human protein, otherwise known as C2orf37, are responsible for Woodhouse-Sakati Syndrome. Woodhouse-Sakati Syndrome is a rare autosomal recessive multi-systemic disorder characterised by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome [2]. [1]. 16949367. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. Jin J, Arias EE, Chen J, Harper JW, Walter JC;. Mol Cell. 2006;23:709-721. [2]. 19026396. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS;. Am J Hum Genet. 2008;83:684-691. (from Pfam)

Date:

2024-10-16

IL17R_fnIII_D2 is the second extracellular fibronectin III-like domain on interleukin17-receptor-D molecules. The exact ligands of IL17R-D are not known [1,2,3]. [1]. 19838198. Structural basis of receptor sharing by interleukin 17 cytokines. Ely LK, Fischer S, Garcia KC;. Nat Immunol. 2009;10:1245-1251. [2]. 21349428. Functional specialization of interleukin-17 family members. Iwakura Y, Ishigame H, Saijo S, Nakae S;. Immunity. 2011;34:149-162. [3]. 23643382. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N;. Am J Hum Genet. 2013;92:725-743. (from Pfam)

Date:

2024-10-16