RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins (Q24533513)

GOA release 2020-03-11

1 reference

Anand Swaroop

11

Anand

Swaroop

1 reference

20 October 2023

1

Hemant Khanna

Hemant

Khanna

1 reference

20 October 2023

8

Alan F Wright

Alan F

Wright

1 reference

20 October 2023

Toby W Hurd

2

Toby W

Hurd

1 reference

20 October 2023

Concepcion Lillo

3

Concepcion

Lillo

1 reference

20 October 2023

Xinhua Shu

4

Xinhua

Shu

1 reference

20 October 2023

Sunil K Parapuram

5

Sunil K

Parapuram

1 reference

20 October 2023

Shirley He

6

Shirley

He

1 reference

20 October 2023

Masayuki Akimoto

7

Masayuki

Akimoto

1 reference

20 October 2023

Ben Margolis

9

Ben

Margolis

1 reference

20 October 2023

David S Williams

10

David S

Williams

1 reference

Journal of Biological Chemistry

20 October 2023

language of work or name

English

0 references

publication date

30 September 2005

0 references

published in

0 references

volume

280

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issue

39

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page(s)

33580-7

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cites work

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Direct interaction of two polarity complexes implicated in epithelial tight junction assembly

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Assembly of centrosomal proteins and microtubule organization depends on PCM-1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Involvement of the cohesin protein, Smc1, in Atm-dependent and independent responses to DNA damage

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Null RPGRIP1 alleles in patients with Leber congenital amaurosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Functional genomics of the cilium, a sensory organelle

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

24 March 2017

Intraflagellar transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

IFT20 links kinesin II with a mammalian intraflagellar transport complex that is conserved in motile flagella and sensory cilia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Polarity proteins control ciliogenesis via kinesin motor interactions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Photoreceptor intersegmental transport and retinal degeneration: a conserved pathway common to motile and sensory cilia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

27 September 2017

Intraflagellar Transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Protein Translocation in Photoreceptor Light Adaptation: A Common Theme in Vertebrate and Invertebrate Vision

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Identification of a novel protein interacting with RPGR.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Microtubules and neuronal polarity: lessons from mitosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

A role for regulated binding of p150(Glued) to microtubule plus ends in organelle transport

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Abnormal axonemes in X-linked retinitis pigmentosa

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

30 May 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M505827200

RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M505827200

Nucleocytoplasmic transport: driving and directing transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M505827200

The delta subunit of type 6 phosphodiesterase reduces light-induced cGMP hydrolysis in rod outer segments

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M505827200

Photoreceptor cGMP Phosphodiesterase δ Subunit (PDEδ) Functions as a Prenyl-binding Protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M505827200

Interaction of retinal bZIP transcription factor NRL with Flt3-interacting zinc-finger protein Fiz1: possible role of Fiz1 as a transcriptional repressor

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M505827200

SMC proteins and chromosome structure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M505827200

Transport to the photoreceptor outer segment by myosin VIIa and kinesin II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M505827200

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M505827200

Complex expression pattern of RPGR reveals a role for purine-rich exonic splicing enhancers

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1249479

Retinitis pigmentosa. Genetic percentages

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/16043481

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities

1 reference

https://pubmed.ncbi.nlm.nih.gov/16043481

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Retinitis pigmentosa and the question of photoreceptor connecting cilium defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/16043481

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1074/JBC.M505827200

1 reference

release_quggaelhknhotfofaoksyo2h5m

Fatcat ID

0 references

1 reference

1 reference

1 reference