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CRX | Cone-rod homeobox protein; Transcription factor that binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, such as NRL, RORB and RAX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors. Belongs to the paired homeobox family. (299 aa) | ||||
PRPH2 | Peripherin-2; Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity). Belongs to the PRPH2/ROM1 family. (346 aa) | ||||
GUCY2D | Retinal guanylyl cyclase 1; Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment. May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity). Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. (1103 aa) | ||||
JAG1 | Protein jagged-1; Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro). (1218 aa) | ||||
RPE65 | Retinoid isomerohydrolase; Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore. Essential for the production of 11-cis retinal for both rod and cone photoreceptors. Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye- specific carotenoid. The soluble form binds vitamin A (all-tr [...] (533 aa) | ||||
VCAN | Versican core protein; May play a role in intercellular signaling and in connecting cells with the extracellular matrix. May take part in the regulation of cell motility, growth and differentiation. Binds hyaluronic acid. (3396 aa) | ||||
ROM1 | Rod outer segment membrane protein 1; Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks (By similarity). Plays a role in the organization of the ROS and maintenance of ROS disk diameter (By similarity). Involved in the maintenance of the retina outer nuclear layer (By similarity). (351 aa) | ||||
FSCN2 | Fascin-2; Acts as an actin bundling protein. May play a pivotal role in photoreceptor cell-specific events, such as disk morphogenesis. (516 aa) | ||||
LRAT | Lecithin retinol acyltransferase; Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis- retinaldehyde which is the chromophore for rhodopsin and t [...] (230 aa) | ||||
SLC25A15 | Mitochondrial ornithine transporter 1; Ornithine-citrulline antiporter. Connects the cytosolic and the intramitochondrial reactions of the urea cycle by exchanging cytosolic ornithine with matrix citrulline. The stoichiometry is close to 1:1 (By similarity). Belongs to the mitochondrial carrier (TC 2.A.29) family. (301 aa) | ||||
CHM | Rab proteins geranylgeranyltransferase component A 1; Substrate-binding subunit of the Rab geranylgeranyltransferase (GGTase) complex. Binds unprenylated Rab proteins and presents the substrate peptide to the catalytic component B composed of RABGGTA and RABGGTB, and remains bound to it after the geranylgeranyl transfer reaction. The component A is thought to be regenerated by transferring its prenylated Rab back to the donor membrane. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative [...] (653 aa) | ||||
CRB1 | Protein crumbs homolog 1; Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion; Belongs to the Crumbs protein family. (1406 aa) | ||||
OAT | Ornithine aminotransferase, mitochondrial; Ornithine aminotransferase. (439 aa) | ||||
ABCA4 | Retinal-specific phospholipid-transporting ATPase ABCA4; Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP. Transports preferentially phosphatidylethanolamine. In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all- trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR- PE). Once transported to the cytoplasmic su [...] (2273 aa) | ||||
PAX2 | Paired box protein Pax-2; Transcription factor that may have a role in kidney cell differentiation. Has a critical role in the development of the urogenital tract, the eyes, and the CNS. (396 aa) | ||||
EYS | Protein eyes shut homolog; Required to maintain the integrity of photoreceptor cells. Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer segments via the transition zone (By similarity); Belongs to the EYS family. (3165 aa) | ||||
GUCA1A-2 | Guanylate cyclase activator 1A. (201 aa) | ||||
CYP4V2 | Cytochrome P450 4V2; Omega-hydroxylase that oxidizes medium-chain saturated fatty acids and polyunsaturated omega-3 fatty acids, and which plays a role in fatty acid and steroid metabolism in the eye. Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12). Acts as a polyunsaturated omega-3 fatty acids hydroxylase by mediating oxidation of docosahexaenoate (DHA) to 22-hydroxydocosahexaenoate. Also produces some 21- [...] (525 aa) | ||||
HADHA | Trifunctional enzyme subunit alpha, mitochondrial; Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway. The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA. Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long-chain fatty acids. Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional en [...] (763 aa) | ||||
ACVRL1 | Serine/threonine-protein kinase receptor R3; Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well. (503 aa) | ||||
LCA5 | Lebercilin; Involved in intraflagellar protein (IFT) transport in photoreceptor cilia; Belongs to the LCA5 family. (697 aa) | ||||
SPATA7 | Spermatogenesis-associated protein 7; Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity). (599 aa) | ||||
NDE1 | Nuclear distribution protein nudE homolog 1; Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative neurona [...] (335 aa) | ||||
SAG | S-arrestin; Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO (By similarity). May play a role in preventing light-dependent degeneration of retinal photoreceptor cells. (405 aa) | ||||
TEAD1 | Transcriptional enhancer factor TEF-1; Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell [...] (426 aa) | ||||
NRL | Neural retina-specific leucine zipper protein; Acts as a transcriptional activator which regulates the expression of several rod-specific genes, including RHO and PDE6B. Functions also as a transcriptional coactivator, stimulating transcription mediated by the transcription factor CRX and NR2E3. Binds in a sequence-specific manner to the rhodopsin promoter. (237 aa) | ||||
POU3F4 | POU domain, class 3, transcription factor 4; Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain. (361 aa) |