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TREX1

This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Membrane

Single cell type specificity

Cell type enhanced (Basal respiratory cells, Ionocytes, Respiratory ciliated cells, Melanocytes, Club cells, Langerhans cells)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (BJ hTERT+ SV40 Large T+ RasG12V)

Interaction

Homodimer (By similarity). Interacts (via proline-rich region) with TCERG1/CA150 (via the second WW domain) (By similarity). Component of the SET complex, composed of at least ANP32A, APEX1, HMGB2, NME1, SET and TREX1 (PubMed:16818237). Within this complex, directly interacts with SET; this interaction does not result in TREX1 inhibition (PubMed:16818237). Also interacts with NME1, but only following translocation to the nucleus (PubMed:16818237). Directly interacts with UBQLN1 (via ubiquitin-like domain); the interaction may control TREX1 subcellular location (PubMed:23979357).

Molecular function

Exonuclease, Hydrolase, Nuclease

More Types Infomation

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