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Tubby like protein 1

TULP1, Tubby-like protein 1, RP14
This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates and encode proteins of unknown function. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. Mutations in this gene may be associated with retinitis pigmentosa. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CRB1, LCa, ROD, HAD, p63
Papers on TULP1
Host genetic variants influencing the clinical course of hepatitis C virus infection.
Tanaka et al., Nagoya, Japan. In J Med Virol, Feb 2016
Interestingly, these genetic variants also affect the activity of hepatitis, or disease progression in chronic hepatitis C. In addition, polymorphisms in apoptosis-related genes such as RNF7, TULP1, and MERTK are associated with fibrosis progression, and DEPDC5 and MICA variants are associated with HCV-related hepatocellular carcinoma.
TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR).
Hagstrom et al., Cleveland, United States. In Adv Exp Med Biol, Dec 2015
Mutations in the TULP1 gene are associated with early-onset retinitis pigmentosa (RP); however, the molecular mechanisms related to the deleterious effects of TULP1 mutations remains unknown.
Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.
Uusimaa et al., Oulu, Finland. In Acta Ophthalmol, Nov 2015
The analysis of nuclear candidate genes revealed mutations in NDUF8 (patient with nystagmus), TULP1 (patient with optic neuropathy, nystagmus and retinopathy) and RP2 (patient with retinopathy) genes.
Impact of common risk factors of fibrosis progression in chronic hepatitis C.
Negro et al., Lausanne, Switzerland. In Gut, Oct 2015
In genotyped patients, variants at rs9380516 (TULP1), rs738409 (PNPLA3), rs4374383 (MERTK) (AF 19.2%) and rs910049 (major histocompatibility complex region) significantly added to the risk of accelerated FPR.
A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
Bolz et al., Riyadh, Saudi Arabia. In Br J Ophthalmol, Apr 2015
BACKGROUND: In Arabian children referred with retinal dystrophy, we have observed that a specific biallelic nonsense mutation in the gene encoding tubby-like protein 1 (TULP1, c.901C>T (p.Gln301*)) is recurrent.
Proteomic profiling of SupT1 cells reveal modulation of host proteins by HIV-1 Nef variants.
Tripathi et al., Lucknow, India. In Plos One, 2014
The differential expression of the 6 proteins was analyzed by Real time PCR, Western blotting and Immunofluorescence studies with two Nef variants (RP14 and RP01) in SupT1 cells.
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.
Cremers et al., Islamabad, Pakistan. In Plos One, 2014
In addition, based on population specific mutation data we performed targeted Sanger sequencing (TSS) of frequent variants in AIPL1, CEP290, CRB1, GUCY2D, LCA5, RPGRIP1 and TULP1, in probands from 28 LCA families.
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.
Ayuso et al., Valencia, Spain. In Invest Ophthalmol Vis Sci, 2014
There were 5 of 873 families (~0.6%) with causative mutations in more than one gene (locus heterogeneity), involving the genes: (1) USH2A, RDH12, and TULP1; (2) PDE6B and a new candidate gene; (3) CERKL and CRB1; (4) BBS1 and C2orf71; and (5) ABCA4 and CRB1.
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
Iwata et al., Tokyo, Japan. In Plos One, 2013
RESULTS: Whole exome sequencing of 30 arRP/spRP patients identified disease-causing gene mutations of CNGA1 (four patients), EYS (three patients) and SAG (one patient) in eight patients and potential disease-causing gene variants of USH2A (two patients), EYS (one patient), TULP1 (one patient) and C2orf71 (one patient) in five patients.
An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice.
Naggert et al., Bar Harbor, United States. In Invest Ophthalmol Vis Sci, 2012
Mtap1a, which modifies hearing loss in Tub(tub/tub) mice, also modifies retinal degeneration in Tub and Tulp1 mice; functionally nonredundant members of the TULP family (TUB and TULP1) share a common functional interaction with MTAP1A
Translational vision research models program.
Nishina et al., Bar Harbor, United States. In Adv Exp Med Biol, 2011
A new mutation in Tulp1 was identifies in a mouse model of retinal degeneration.
Tulp1 is involved in specific photoreceptor protein transport pathways.
Grossman et al., Cleveland, United States. In Adv Exp Med Biol, 2011
Outer segment proteins are affected differently in Tulp1-/- mice, providing evidence that Tulp1 functions in selective outer segment pathways.
Immunocytochemical evidence of Tulp1-dependent outer segment protein transport pathways in photoreceptor cells.
Hagstrom et al., Cleveland, United States. In Exp Eye Res, 2011
These data implicate Tulp1 in the transport of selective integral membrane outer segment proteins and their associated proteins, specifically, the opsin and guanylate cyclase carrier pathways.
Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.
Riazuddin et al., Lahore, Pakistan. In Arch Ophthalmol, 2011
Pathogenic mutations in TULP1 are responsible for the autosomal recessive retinitis pigmentosa phenotype in these consanguineous Pakistani families, with a single ancestral mutation in TULP1 causing the disease phenotype in 4 of 5 families.
The tubby family proteins.
Jackson et al., San Francisco, United States. In Genome Biol, 2010
The vertebrate family of tubby-like proteins (TULPs) includes the founding member TUB and the related TULPs, TULP1 to TULP4.
Leber congenital amaurosis: genes, proteins and disease mechanisms.
Cremers et al., Nijmegen, Netherlands. In Prog Retin Eye Res, 2008
Recently, several defects were identified that are likely to affect intra-photoreceptor ciliary transport processes (CEP290, LCA5, RPGRIP1, TULP1).
[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update].
Kaplan et al., Paris, France. In J Fr Ophtalmol, 2005
GUCY2D accounted for by far the largest part of the LCA cases in our series (21.2%), followed by CRB1 (10%), RPE65 (6.1%), RPGRIP1 (4.5%), AIPL1 (3.4%), TULP1 (1.7%) and CRX (0.6%).
Leber Congenital Amaurosis
Beattie et al., Seattle, United States. In Unknown Journal, 2004
Pathogenic variants in 17 genes are known to cause LCA: GUCY2D (locus name: LCA1), RPE65 (LCA2), SPATA7 (LCA3), AIPL1 (LCA4), LCA5 (LCA5), RPGRIP1 (LCA6), CRX (LCA7), CRB1 (LCA8), NMNAT1 (LCA9), CEP290 (LCA10), IMPDH1 (LCA11), RD3 (LCA12), RDH12 (LCA13), LRAT (LCA14), TULP1 (LCA15),KCNJ13 (LCA16), and IQCB1.
TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.
Gilliam et al., New York City, United States. In Nat Genet, 1998
TULP1 (the gene encoding tubby-like protein 1) is a candidate target for the disease mutation because it maps to the RP14 minimum genetic region and because a mutation in the highly homologous mouse tub gene leads to obesity, deafness and early progressive retinal degeneration.
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.
Dryja et al., Boston, United States. In Nat Genet, 1998
Here we report the analysis of the human gene TULP1, which is expressed specifically in the retina.
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