Full name: TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: LUN; P53BP3; RP31; TP53BPL

Summary: This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]

Expression: Ubiquitous expression in testis (RPKM 10.5), bone marrow (RPKM 10.0) and 25 other tissues

Gene size: 12043bp

Exon count: 3