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Table 1 Summary of HECT E3s discussed

From: HECT E3s and human disease

 

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 (?)

  1. n.a., not available; ?, link to human disease has not been reported; (?), the respective HECT E3 has been linked to the respective disease but it remains unclear as to whether it is causally involved. For references, see text.