TOPORS gene

TOP1 binding arginine/serine rich protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 31

From UniProt:

Retinitis pigmentosa 31 (RP31): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. [MIM:609923]

Cytogenetic Location: 9p21, which is the short (p) arm of chromosome 9 at position 21

Molecular Location: base pairs 32,540,544 to 32,552,628 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9p21, which is the short (p) arm of chromosome 9 at position 21
  • LUN
  • P53BP3
  • RP31
  • TP53BPL