Human Gene TULP1 (uc003okv.4) Description and Page Index
Description: Homo sapiens tubby like protein 1 (TULP1), mRNA. RefSeq Summary (NM_003322): This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]. Transcript (Including UTRs) Position: hg19 chr6:35,465,651-35,480,647 Size: 14,997 Total Exon Count: 15 Strand: - Coding Region Position: hg19 chr6:35,466,104-35,480,635 Size: 14,532 Coding Exon Count: 15
ID:TULP1_HUMAN DESCRIPTION: RecName: Full=Tubby-related protein 1; AltName: Full=Tubby-like protein 1; FUNCTION: Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long- term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4- phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages. SUBUNIT: Homodimer (Probable). May interact with ABCF1, PSIP1, ZEB1 and HMGB2 (Potential). Interacts with DNM1 (By similarity). Interacts with F-actin. Interacts with TUB (By similarity). INTERACTION: P16333:NCK1; NbExp=2; IntAct=EBI-1756778, EBI-389883; SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Secreted (By similarity). Cell junction, synapse (By similarity). Note=Detected at synapses between photoreceptor cells and second-order neurons. Does not have a cleavable signal peptide and is secreted by an alternative pathway (By similarity). TISSUE SPECIFICITY: Retina-specific. DISEASE: Defects in TULP1 are the cause of retinitis pigmentosa type 14 (RP14) [MIM:600132]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP14 inheritance is autosomal recessive. DISEASE: Defects in TULP1 are the cause of Leber congenital amaurosis type 15 (LCA15) [MIM:613843]. LCA15 is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. SIMILARITY: Belongs to the TUB family. SEQUENCE CAUTION: Sequence=CAI20251.1; Type=Erroneous gene model prediction; WEB RESOURCE: Name=Mutations of the TULP1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/tulpmut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TULP1";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TULP1 CDC HuGE Published Literature: TULP1 Positive Disease Associations: Waist Circumference Related Studies:
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O00294
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.