GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:21159800

From GONUTS
Jump to: navigation, search
Citation

Chakarova, CF, Khanna, H, Shah, AZ, Patil, SB, Sedmak, T, Murga-Zamalloa, CA, Papaioannou, MG, Nagel-Wolfrum, K, Lopez, I, Munro, P, Cheetham, M, Koenekoop, RK, Rios, RM, Matter, K, Wolfrum, U, Swaroop, A and Bhattacharya, SS (2011) TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Hum. Mol. Genet. 20:975-87

Abstract

We recently reported that mutations in the widely expressed nuclear protein TOPORS (topoisomerase I-binding arginine/serine rich) are associated with autosomal dominant retinal degeneration. However, the precise localization and a functional role of TOPORS in the retina remain unknown. Here, we demonstrate that TOPORS is a novel component of the photoreceptor sensory cilium, which is a modified primary cilium involved with polarized trafficking of proteins. In photoreceptors, TOPORS localizes primarily to the basal bodies of connecting cilium and in the centrosomes of cultured cells. Morpholino-mediated silencing of topors in zebrafish embryos demonstrates in another species a comparable retinal problem as seen in humans, resulting in defective retinal development and failure to form outer segments. These defects can be rescued by mRNA encoding human TOPORS. Taken together, our data suggest that TOPORS may play a key role in regulating primary cilia-dependent photoreceptor development and function. Additionally, it is well known that mutations in other ciliary proteins cause retinal degeneration, which may explain why mutations in TOPORS result in the same phenotype.

Links

PubMed PMC3033188 Online version:10.1093/hmg/ddq543

Keywords

Animals; Cell Line; Cells, Cultured; Centrosome/metabolism; Cilia/genetics; Cilia/metabolism; Humans; Mice; Neoplasm Proteins/genetics; Neoplasm Proteins/metabolism; Nuclear Proteins/genetics; Nuclear Proteins/metabolism; Photoreceptor Cells/metabolism; Protein Transport; Retina/metabolism; Retinal Degeneration/genetics; Retinal Degeneration/metabolism; Ubiquitin-Protein Ligases/genetics; Ubiquitin-Protein Ligases/metabolism; Zebrafish

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

DANRE:A0JMC0

involved_in

GO:0010842: retina layer formation

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-110331-5

P

Seeded From UniProt

complete

DANRE:E7F1A2

involved_in

GO:0010842: retina layer formation

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-110331-5

P

Seeded From UniProt

complete

BOVIN:F1N329

located_in

GO:0005813: centrosome

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

BOVIN:F1N329

enables

GO:0043015: gamma-tubulin binding

ECO:0000314: direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

DANRE:F1QSD4

involved_in

GO:0010842: retina layer formation

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-110331-5

P

Seeded From UniProt

complete

PIG:F1SE69

located_in

GO:0032391: photoreceptor connecting cilium

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

DANRE:Q5BLE0

involved_in

GO:0010842: retina layer formation

ECO:0000315: mutant phenotype evidence used in manual assertion

ZFIN:ZDB-MRPHLNO-110331-5

P

Seeded From UniProt

complete

DANRE:Q5BLE0

involved_in

GO:0043066: negative regulation of apoptotic process

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

DANRE:Q5BLE0

involved_in

GO:0046548: retinal rod cell development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

DANRE:Q5BLE0

involved_in

GO:0046549: retinal cone cell development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

DANRE:Q5BLE0

involved_in

GO:0010842: retina layer formation

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

DANRE:Q5BLE0

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:TOPRS

located_in

GO:0032391: photoreceptor connecting cilium

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

MOUSE:TOPRS

located_in

GO:0005634: nucleus

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000740)

Seeded From UniProt

complete

MOUSE:TOPRS

located_in

GO:0036064: ciliary basal body

ECO:0000314: direct assay evidence used in manual assertion

C

  • part_of:(CL:0000210)

Seeded From UniProt

complete

HUMAN:TOPRS

located_in

GO:0000922: spindle pole

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TOPRS

located_in

GO:0005814: centriole

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TOPRS

located_in

GO:0032391: photoreceptor connecting cilium

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TOPRS

part_of

GO:0000930: gamma-tubulin complex

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TOPRS

colocalizes_with

GO:0016605: PML body

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TOPRS

located_in

GO:0036064: ciliary basal body

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TOPRS

located_in

GO:0030496: midbody

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TOPRS

part_of

GO:0000922: spindle pole

ECO:0000314: direct assay evidence used in manual assertion

C

exists_during:(GO:0000278)

Seeded From UniProt

complete

HUMAN:TOPRS

part_of

GO:0030496: midbody

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

exists_during:(GO:0051326)

Seeded From UniProt

complete

HUMAN:TOPRS

colocalizes_with

GO:0005868: cytoplasmic dynein complex

ECO:0000304: author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TOPRS

part_of

GO:0000930: gamma-tubulin complex

ECO:0000314: direct assay evidence used in manual assertion

C

exists_during:(GO:0000080)|exists_during:(GO:0000084)|exists_during:(GO:0000085)

Seeded From UniProt

complete

HUMAN:TOPRS

part_of

GO:0005814: centriole

ECO:0000314: direct assay evidence used in manual assertion

C

exists_during:(GO:0000080)|exists_during:(GO:0000084)|exists_during:(GO:0000085)

Seeded From UniProt

complete

HUMAN:TOPRS

involved_in

GO:0010842: retina layer formation

ECO:0000250: sequence similarity evidence used in manual assertion

UniProtKB:Q5BLE0

P

Seeded From UniProt

complete

HUMAN:TOPRS

colocalizes_with

GO:0016605: PML body

ECO:0000314: direct assay evidence used in manual assertion

C

exists_during:(GO:0000080)|exists_during:(GO:0000084)|exists_during:(GO:0000085)

Seeded From UniProt

complete

HUMAN:TOPRS

part_of

GO:0032391: photoreceptor connecting cilium

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TOPRS

involved_in

GO:0035845: photoreceptor cell outer segment organization

ECO:0000250: sequence similarity evidence used in manual assertion

UniProtKB:Q5BLE0

P

Seeded From UniProt

complete

HUMAN:TOPRS

part_of

GO:0036064: ciliary basal body

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:TOPRS

involved_in

GO:0046548: retinal rod cell development

ECO:0000250: sequence similarity evidence used in manual assertion

UniProtKB:Q5BLE0

P

Seeded From UniProt

complete

HUMAN:TOPRS

involved_in

GO:0043066: negative regulation of apoptotic process

ECO:0000250: sequence similarity evidence used in manual assertion

UniProtKB:Q5BLE0

P

Seeded From UniProt

complete

HUMAN:TOPRS

involved_in

GO:0046549: retinal cone cell development

ECO:0000250: sequence similarity evidence used in manual assertion

UniProtKB:Q5BLE0

P

Seeded From UniProt

complete


See also

References

See Help:References for how to manage references in GONUTS.