RP9 gene

retinitis pigmentosa 9 (autosomal dominant)

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

From NCBI Gene:

The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]

From UniProt:

Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Retinitis pigmentosa 9

From UniProt:

Retinitis pigmentosa 9 (RP9): 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:180104]

Cytogenetic Location: 7p14.3, which is the short (p) arm of chromosome 7 at position 14.3

Molecular Location: base pairs 33,094,797 to 33,109,390 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p14.3, which is the short (p) arm of chromosome 7 at position 14.3
  • PAP-1
  • PAP1