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Gene : TOPORS Homo sapiens

Name  ? TOP1 binding arginine/serine rich protein Cytological Location  9p21.1
Brief Description  TOP1 binding arginine/serine rich protein
description  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]
  • synonyms:
  • retinitis pigmentosa 31 (autosomal dominant),
  • topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase,
  • LUN,
  • TP53BPL,
  • uc003zrb.4,
  • NM_005802,
  • RP31,
  • LUN,
  • AF098300,
  • TP53BPL,
  • P53BP3,
  • OTTHUMG00000019743,
  • RP31,
  • HGNC:21653
  • identifiers:
  • 10210,
  • ENSG00000197579,

Genome feature

Region: gene ? Length: 12085  
Location: 9:32540544-32552628 reverse strand Cyto location: 9p21.1

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1 Diseases

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28 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results