Property Summary

NCBI Gene PubMed Count 40
Grant Count 40
R01 Count 22
Funding $5,421,263.34
PubMed Score 52.16
PubTator Score 45.84

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell 1.600 0.005
group 3 medulloblastoma 1.900 0.005

Gene RIF (18)

PMID Text
26987071 photoreceptor degeneration caused by missense mutations via endoplasmic reticulum unfolded protein response
26427415 Data suggest that mutant tubby like protein 1 (TULP1) proteins are misfolded and accumulate within the endoplasmic reticulum (ER) leading to induction of the unfolded protein response (UPR) stress response complex.
25342276 The TULP1 allele p.Gln301* represents a founder mutation on the Arabian Peninsula and is associated with a recognisable congenital recessive rod-cone dystrophy phenotype in the homozygous state.
25074776 Retinal degeneration with TULP1 mutations leads to a small central island of residual foveal cones at early ages which are less sensitive than expected from the residual structure.
24664737 Tubby and Tulp1 mediated phagocytosis through MerTK-dependent signaling with non-muscle myosin II redistribution leading to colocalization of phagocytosed vesicles with rearranged NMMIIA.
24547928 This study highlights the value of the broad sequencing strategy of exome sequencing for disease gene identification in Leber congenital amaurosis, over other existing methods.
23499059 Maternal uniparental isodisomy of chromosome 6 unmasked a mutation in the TULP1 gene as a novel cause of cone dysfunction.
22841784 The single nucleotide polymorphisms rs4374383 and rs9380516 were linked to the functionally related genes MERTK and TULP1, which encode factors involved in phagocytosis of apoptotic cells by macrophages.
22665969 One recurrent (c.1138A>G; p.Thr380Ala) and one novel (c.1445G>A; p.Arg482Gln) mutations in TULP1 have been identified in Pakistani families with early-onset retinitis pigmentosa.
22605927 Homozygous autosomal recessive retinitis pigmentosa-causing mutations have been found in three Indian families. These included a missense mutation in TULP1.
More...

AA Sequence

MPLRDETLREVWASDSGHEEESLSPEAPRRPKQRPAPAQRLRKKRTEAPESPCPTGSKPRKPGAGRTGRP      1 - 70
REEPSPDPAQARAPQTVYARFLRDPEAKKRDPRETFLVARAPDAEDEEEEEEEDEEDEEEEAEEKKEKIL     71 - 140
LPPKKPLREKSSADLKERRAKAQGPRGDLGSPDPPPKPLRVRNKEAPAGEGTKMRKTKKKGSGEADKDPS    141 - 210
GSPASARKSPAAMFLVGEGSPDKKALKKKGTPKGARKEEEEEEEAATVIKKSNQKGKAKGKGKKKAKEER    211 - 280
APSPPVEVDEPREFVLRPAPQGRTVRCRLTRDKKGMDRGMYPSYFLHLDTEKKVFLLAGRKRKRSKTANY    281 - 350
LISIDPTNLSRGGENFIGKLRSNLLGNRFTVFDNGQNPQRGYSTNVASLRQELAAVIYETNVLGFRGPRR    351 - 420
MTVIIPGMSAENERVPIRPRNASDGLLVRWQNKTLESLIELHNKPPVWNDDSGSYTLNFQGRVTQASVKN    421 - 490
FQIVHADDPDYIVLQFGRVAEDAFTLDYRYPLCALQAFAIALSSFDGKLACE                      491 - 542
//

Text Mined References (40)

PMID Year Title
26987071 2016 Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration.
26427415 2016 TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR).
25342276 2015 A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.
25074776 2014 TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones.
24664737 2014 Synergistic interaction of tubby and tubby-like protein 1 (Tulp1).
24547928 2015 Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
23499059 2013 Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
22841784 2012 Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.
22665969 2012 Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
22605927 2012 Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.
More...