| Chromosomal localization | Potential substrate proteins | Mouse model | Human disease |
---|---|---|---|---|
HERC1 | 15q22 | TSC2 | n.a. | Tuberous sclerosis complex (?) |
HERC2 | 15q13 | Unknown | Neuromuscular and spermatogenic defects; juvenile lethality | ? |
HERC5 | 4q22 | Unknown | n.a. | ? |
Nedd4-1 | 15q21 | PTEN, ENaC, viral Gag proteins, numerous membrane transport proteins or receptors | n.a. | Liddle's syndrome (?) Retroviral infection (?) Cancer (?) |
Nedd4-2 | 18q21 | ENaC, Nav 1.5, numerous membrane transport proteins | n.a. | Liddle's syndrome (?) Retroviral infection (?) |
Smurf1 | 7q21-31 | Smad1, Smad5 | Bone homeostasis | Bone homeostasis (?) |
Smurf2 | 17q22-23 | Smad1, Smad2, SnoN, TGF-β receptor | Double knockout with Smurf1; embryonic lethal | Cancer (?) |
Itch | 20q11.22-11.23 | JunB, c-jun, PKC-θ PLC-γ1, p63, p73 | Defects in Th2 cell differentiation and tolerance | Th2 cell allergy (?) |
E6-AP | 15q11-13 | Bak, Blk, HHR23, Mcm7, AIB1 In complex with the HPV E6 oncoprotein: p53, PDZ domain-containing proteins (e.g. hDlg, Scribble, MAGI-1), NFX1-91 | AS-like phenotype | AS Cervical cancer |
EDD | 8q22.3 | TopBP1, Paip2 | Defects in yolk sac and allantoic vascular development; embryonic lethal | Cancer (?) |
HECTH9 | Xp11.22 | histones, Mcl-1, c-Myc, p53 | n.a. | Cancer (?) |