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MGP004635

UniProt Annotations

Entry Information

Gene Name	tripartite motif containing 2
Protein Entry
UniProt ID
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9C040-1; Sequence=Displayed; Name=2; IsoId=Q9C040-2; Sequence=VSP_046923;
Disease	Charcot-Marie-Tooth disease 2R (CMT2R) [MIM:615490]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269\|PubMed:23562820}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	The interaction with myosin V is dependent upon its NHL repeats, which form a beta-propeller (NHL) domain containing six blades. {ECO:0000250}.
Function	UBE2D1-dependent E3 ubiquitin-protein ligase that mediates the ubiquitination of NEFL and of phosphorylated BCL2L11. Plays a neuroprotective function. May play a role in neuronal rapid ischemic tolerance. {ECO:0000250}.
Pathway	Protein modification; protein ubiquitination.
Ptm	RING-type zinc finger-dependent and UBE2D1-dependent autoubiquitination. {ECO:0000250}.
Sequence Caution	Sequence=AAG53472.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA25443.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity	Belongs to the TRIM/RBCC family. {ECO:0000305}.
Similarity	Contains 1 B box-type zinc finger. {ECO:0000255\|PROSITE-ProRule:PRU00024}.
Similarity	Contains 1 filamin repeat. {ECO:0000255\|PROSITE- ProRule:PRU00087}.
Similarity	Contains 1 RING-type zinc finger. {ECO:0000255\|PROSITE-ProRule:PRU00175}.
Similarity	Contains 6 NHL repeats. {ECO:0000255\|PROSITE- ProRule:PRU00504}.
Subcellular Location	Cytoplasm {ECO:0000250}.
Subunit	Interacts with myosin V; myosin V may not be a substrate for ubiquitination (By similarity). Interacts with NEFL (By similarity). Interacts with phosphorylated BCL2L11. {ECO:0000250, ECO:0000269\|PubMed:21478148}.