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WD repeat domain 19

ORF26, WDR19
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains six WD repeats, a clathrin heavy-chain repeat, and three transmembrane domains. This gene is conserved from C. elegans to human. It may participate in androgen-regulated signaling mechanisms or in the vesicular trafficking of androgen-regulated secretory processes. Alternatively spliced transcript variants encoding distinct isoforms have been reported but the full-length nature of one of these variants has not been defined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: POLYMERASE, ACID, Orf, HAD, CAN
Papers on ORF26
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.
Cheong et al., Seoul, South Korea. In Pediatr Nephrol, Sep 2015
BACKGROUND: Nephronophthisis 13 (NPHP 13) is associated with mutations in the WDR19 gene, which encodes for a protein in the intraflagellar transport complex.
Identification of Human Herpesvirus 8 Sequences in Conjunctiva Intraepithelial Neoplasia and Squamous Cell Carcinoma of Ugandan Patients.
Tornesello et al., Napoli, Italy. In Biomed Res Int, 2014
In this study biopsies and PBMCs of conjunctiva neoplasia patients along with nonneoplastic conjunctiva tissues have been analyzed for HHV8 sequences by PCR targeting ORF26.
Mutation of POC1B in a severe syndromic retinal ciliopathy.
Bolz et al., Köln, Germany. In Hum Mutat, 2014
The phenotype associated with homozygous p.Arg106ProPOC1B may thus be highly variable, analogous to homozygous p.Leu710Ser in WDR19 causing either isolated retinitis pigmentosa or Jeune syndrome.
Type III secretion system genes of Edwardsiella tarda associated with intracellular replication and virulence in zebrafish.
Nakai et al., Hiroshima, Japan. In Dis Aquat Organ, 2014
Two possible effector candidate genes (eseE and eseG) and 7 hypothetical genes (esaB, escC, orf13, orf19, orf26, orf29, and orf30) located in the T3SS gene cluster were inactivated by an allelic exchange method, and we found that E. tarda strains carrying insertion mutations in escC, orf13, orf19, orf29, and orf30 were unable to replicate within J774 macrophages and HEp-2 epithelial cells.
Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
Bergmann et al., Memmingen, Germany. In Pediatr Nephrol, 2014
We identified the novel homozygous WDR19 mutation c.1483G > C (p.Gly495Arg) that affects an evolutionarily highly conserved residue in the intraflagellar transport protein IFT144, is absent from databases and is predicted to be pathogenic by all bioinformatic sources used.
Molecular typing of human herpesvirus 8 isolates from patients with Kaposi's sarcoma in Hungary.
Konya et al., Debrecen, Hungary. In Anticancer Res, 2014
After identifying the presence of HHV-8 by amplification of its orf26 region, the orf-K1 region was amplified, sequenced and used for phylogenetic analysis.
Whole-genome sequences of two turkey adenovirus types reveal the existence of two unknown lineages that merit the establishment of novel species within the genus Aviadenovirus.
Hess et al., Vienna, Austria. In J Gen Virol, 2014
The genome organization of TAdV-5 was almost the same as that of FAdV-1 but with a possible difference in the splicing pattern of ORF11 and ORF26.
Cranioectodermal Dysplasia
Knoers et al., Seattle, United States. In Unknown Journal, 2013
DIAGNOSIS/TESTING: The diagnosis of CED is established in those with typical clinical findings and can be confirmed in 40% of affected individuals by identification of biallelic mutations in one of the four genes known to be associated with CED: IFT122 (previously WDR10), WDR35 (IFT121), WDR19 (IFT144), or IFT43 (previously C14orf179).
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
Koenekoop et al., Montréal, Canada. In Clin Genet, 2013
We identified a novel missense mutation in WDR19, c.2129T>C which lead to a p.Leu710Ser.
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
GPN Study Group et al., Ann Arbor, United States. In Hum Genet, 2013
In addition, we present the first case of Caroli disease due to mutations in WDR19/NPHP13 and the second case ever with a recessive mutation in GLIS2/NPHP7.
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
Cormier-Daire et al., Paris, France. In J Med Genet, 2013
To date, mutations in IFT80, DYNC2H1, TTC21B and WDR19 have been reported in ATD.
The BBSome controls IFT assembly and turnaround in cilia.
Hu et al., Rochester, United States. In Nat Cell Biol, 2012
Further analyses revealed that the BBSome (refs 3, 4), a group of conserved proteins affected in human Bardet-Biedl syndrome(5) (BBS), assembles IFT complexes at the ciliary base, then binds to the anterograde IFT particle in a DYF-2- (an orthologue of human WDR19) and BBS-1-dependent manner, and lastly reaches the ciliary tip to regulate proper IFT recycling.
Ciliary disorder of the skeleton.
Cormier-Daire et al., Paris, France. In Am J Med Genet C Semin Med Genet, 2012
Mutations have been identified in dynein motor (DYNC2H1), in intraflagellar transport (IFT) complexes (IFT80, IFT122, IFT43, WDR35, WDR19, and TTC21B) as well as in genes responsible for the basal body (NEK1, EVC, and EVC2).
Partial genome analysis of murine gammaherpesvirus 4556.
Valovičová et al., Bratislava, Slovakia. In Acta Virol, 2011
Due to these differences, immune evasion protein M4 and structural proteins encoded by ORF8 (gB), ORF11 (p43), ORF26 and ORF52, respectively, are predicted to have a reduced hydrophilicity and surface exposure compard with their MHV-68 counterparts.
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.
Arts et al., Bergen, Norway. In Am J Hum Genet, 2011
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19
Reflections on the interpretation of heterogeneity and strain differences based on very limited PCR sequence data from Kaposi's sarcoma-associated herpesvirus genomes.
Hayward et al., Baltimore, United States. In J Clin Virol, 2007
However, a number of other clinical and epidemiological studies claiming evidence for KSHV in multiple myeloma or sarcoid and more recently in primary pulmonary hypertension, as well as claims about the biological significance of DNA sequence polymorphisms based just on small ORF26 PCR DNA fragments have not been convincing.
Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium.
Nelson et al., Seattle, United States. In Genomics, 2003
Expressed in normal and neoplastic prostate epithelium and is regulated by androgenic hormones.
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