UBE4A

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. [provided by RefSeq]

Full Name

ubiquitination factor E4A (UFD2 homolog, yeast)

Function

Ubiquitin-protein ligase that probably functions as an E3 ligase in conjunction with specific E1 and E2 ligases. May also function as an E4 ligase mediating the assembly of polyubiquitin chains on substrates ubiquitinated by another E3 ubiquitin ligase. Mediates 'Lys-48'-linked polyubiquitination of substrates.

Biological Process

Biological Process protein polyubiquitination Source:GO_Central1 Publication
Biological Process ubiquitin-dependent ERAD pathway Source:GO_Central1 Publication
Biological Process ubiquitin-dependent protein catabolic process Source:ProtInc1 Publication

Cellular Location

Cytoplasm

Involvement in disease

Neurodevelopmental disorder with hypotonia and gross motor and speech delay (NEDHMS):
An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy, axial hypotonia, limited or absent ability to walk, impaired intellectual development, and poor or absent speech. Additional features may include seizures, behavioral problems, distal skeletal anomalies, and facial dysmorphism.