Probable E3 ubiquitin-protein ligase HERC1

Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol 4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.

Macrocephaly, dysmorphic facies, and psychomotor retardation

MDFPMR

An autosomal recessive syndrome characterized by large head and somatic overgrowth, intellectual disability, and facial dysmorphism. Seizures, hypotonia and ataxic gait are observed in some patients.

None

The disease is caused by variants affecting the gene represented in this entry.

Protein modification; protein ubiquitination.

Widely expressed.

• Membrane
• Peripheral membrane protein
• Cytoplasm
• Cytosol
• Golgi apparatus
• Recruited onto actin-rich surface protrusions.

Probable E3 ubiquitin-protein ligase HERC1, HECT domain and RCC1-like domain-containing protein 1, HECT-type E3 ubiquitin transferase HERC1, p532, p619, HERC1

• entrezGene:8925
• omim:605109
• swissprot:Q15751

Proteins

Neuroscience

532228Da