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TULP2 | Tubby like protein 2; Belongs to the TUB family (520 aa) | |||
TULP1 | Tubby-related protein 1; 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 vit [...] (542 aa) | |||
SLC2A12 | Solute carrier family 2, facilitated glucose transporter member 12; Facilitative glucose transporter; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily (617 aa) | |||
SLC2A13 | Proton myo-inositol cotransporter; H(+)-myo-inositol cotransporter. Can also transport related stereoisomers; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family (648 aa) | |||
HDGFRP3 | Hepatoma-derived growth factor-related protein 3; Enhances DNA synthesis and may play a role in cell proliferation (203 aa) | |||
TUB | Tubby protein homolog; Functions in signal transduction from heterotrimeric G protein-coupled receptors. Binds to membranes containing phosphatidylinositol 4,5-bisphosphate. Can bind DNA (in vitro). May contribute to the regulation of transcription in the nucleus. Could be involved in the hypothalamic regulation of body weight (By similarity). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages (561 aa) | |||
ST8SIA3 | Sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R-alpha 2,8-sialyltransferase; Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto the terminal sialic acid of an acceptor through alpha-2,8-linkages. Is active with alpha-2,3-linked, alpha-2,6-linked and alpha-2,8-linked sialic acid of N-linked oligosaccharides of glycoproteins and glycolipids. Displays preference for substrates with alpha-2,3-linked terminal sialic acid. It can form polysialic acid in vitro directly on alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid; Belongs to the glycosyltransferase 29 family (380 aa) | |||
B3GNT3 | N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3; Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Has activity for type 2 oligosaccharides. Also acts as a core1-1,3-N- acetylglucosaminyltransferase (Core1-beta3GlcNAcT) to form the 6- sulfo sialyl Lewis x on extended core1 O-glycans; Belongs to the glycosyltransferase 31 family (372 aa) | |||
SPECC1L | Cytospin-A; Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration; Belongs to the cytospin-A family (1117 aa) | |||
SLC2A10 | Solute carrier family 2, facilitated glucose transporter member 10; Facilitative glucose transporter; Solute carriers (541 aa) | |||
RRAGD | Ras-related GTP-binding protein D; Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids (400 aa) | |||
SLC2A6 | Solute carrier family 2, facilitated glucose transporter member 6; Facilitative glucose transporter; binds cytochalasin B with low affinity; Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily (507 aa) | |||
RRAGC | Ras-related GTP-binding protein C; Guanine nucleotide-binding protein forming heterodimeric Rag complexes required for the amino acid-induced relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. This is a crucial step in the activation of the TOR signaling cascade by amino acids (399 aa) | |||
SLC2A8 | Solute carrier family 2, facilitated glucose transporter member 8; Insulin-regulated facilitative glucose transporter. Binds cytochalasin B in a glucose-inhibitable manner. Seems to be a dual-specific sugar transporter as it is inhibitable by fructose (By similarity); Solute carriers (477 aa) | |||
C9orf41 | Carnosine N-methyltransferase; N-methyltransferase that mediates the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L- histidine), is an abundant constituent of vertebrate skeletal muscles. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA- His) (409 aa) | |||
SLC30A6 | Zinc transporter 6; Zinc-efflux transporter which allocates the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment; Solute carriers (501 aa) | |||
PITRM1 | Presequence protease, mitochondrial; ATP-independent protease that degrades mitochondrial transit peptides after their cleavage. Also degrades other unstructured peptides. Specific for peptides in the range of 10 to 65 residues. Able to degrade amyloid beta A4 (APP) protein when it accumulates in mitochondrion, suggesting a link with Alzheimer disease. Shows a preference for cleavage after small polar residues and before basic residues, but without any positional preference; Belongs to the peptidase M16 family. PreP subfamily (1038 aa) | |||
DOK6 | Docking protein 6; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK6 promotes Ret- mediated neurite growth. May have a role in brain development and/or maintenance (331 aa) | |||
SLC30A5 | Zinc transporter 5; Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP; Solute carriers (765 aa) | |||
TULP3 | Tubby-related protein 3; Negative regulator of the Shh signaling transduction pathway- recruited to primary cilia via association with the IFT complex A (IFT-A) and is required for recruitment of G protein- coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT- A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. Not involved in ciliogenesis; Belongs to the TUB family (501 aa) | |||
TFIP11 | Tuftelin-interacting protein 11; Involved in pre-mRNA splicing, specifically in spliceosome disassembly during late-stage splicing events. Intron turnover seems to proceed through reactions in two lariat-intron associated complexes termed Intron Large (IL) and Intron Small (IS). In cooperation with DHX15 seems to mediate the transition of the U2, U5 and U6 snRNP-containing IL complex to the snRNP-free IS complex leading to efficient debranching and turnover of excised introns. May play a role in the differentiation of ameloblasts and odontoblasts or in the forming of the enamel extrace [...] (837 aa) | |||
ACTBL2 | Beta-actin-like protein 2; Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells (376 aa) | |||
SLC43A3 | Solute carrier family 43 member 3; Putative transporter; Belongs to the SLC43A transporter (TC 2.A.1.44) family (504 aa) | |||
C12orf43 | Uncharacterized protein C12orf43; Chromosome 12 open reading frame 43 (252 aa) | |||
GPATCH8 | G-patch domain containing 8 (1502 aa) | |||
ENSG00000273637 | annotation not available (321 aa) |