Your Input: | |||||
Eps8l2 | Epidermal growth factor receptor kinase substrate 8-like protein 2; Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton (By similarity). In the cochlea, is required for stereocilia maintenance in adult hair cells ; Belongs to the EPS8 family. (729 aa) | ||||
Gnai3 | Guanine nucleotide-binding protein G(i) subunit alpha; Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modul [...] (354 aa) | ||||
Ush1c | Harmonin; Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles. As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips. (910 aa) | ||||
Calm3 | Calmodulin-1; Calmodulin mediates the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis. Mediates calcium- dependent inactivation of CACNA1C. Positively regulates calcium- activated potassium channel activity of KCNN2. (149 aa) | ||||
Atp2b1 | Plasma membrane calcium-transporting ATPase 1; Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-ind [...] (1220 aa) | ||||
Twf2 | Twinfilin-2; Actin-binding protein involved in motile and morphological processes. Inhibits actin polymerization, likely by sequestering G- actin. By capping the barbed ends of filaments, it also regulates motility. Seems to play an important role in clathrin-mediated endocytosis and distribution of endocytic organelles. May play a role in regulating the mature length of the middle and short rows of stereocilia; Belongs to the actin-binding proteins ADF family. Twinfilin subfamily. (349 aa) | ||||
Gpsm2 | G-protein-signaling modulator 2; Plays an important role in mitotic spindle pole organization via its interaction with NUMA1. Required for cortical dynein-dynactin complex recruitment during metaphase (By similarity). Plays a role in metaphase spindle orientation (By similarity). Plays an important role in asymmetric cell divisions. Has guanine nucleotide dissociation inhibitor (GDI) activity towards G(i) alpha proteins, such as GNAI1 and GNAI3, and thereby regulates their activity. Belongs to the GPSM family. (679 aa) | ||||
Capzb | F-actin-capping protein subunit beta; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. Isoform 3 may play a role in spermatogenesis. Alternatively, may play a role in later maturation steps such as capacitation and fertilization which involve changes of membrane domains. Plays a role in the regulation of cell morphology and cytoskeletal organization (By sim [...] (301 aa) | ||||
Calml4 | Calmodulin-like protein 4. (153 aa) | ||||
Map4 | Microtubule-associated protein 4; Non-neuronal microtubule-associated protein. Promotes microtubule assembly. (1125 aa) | ||||
Ltf | Lactotransferrin; Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate. The lactotransferrin transferrin-like domain 1 functions as a serine protease of the peptidase S60 family that cuts arginine rich regions. This function contributes to the antimicrobial activity. Shows a preferential cleavage at -Arg-Ser-Arg-Arg-|- and -Arg-Arg-Ser-Arg-|-, and of Z-Phe-Arg-|-aminomethylcoumarin sites. (707 aa) | ||||
Cib2 | Calcium and integrin-binding family member 2; Calcium-binding protein critical for proper photoreceptor cell maintenance and function. Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release. May be involved in the mechanotransduction process (By similarity). (187 aa) | ||||
Strc | Stereocilin; Essential to the formation of horizontal top connectors between outer hair cell stereocilia. (1809 aa) | ||||
Tmc1 | Transmembrane channel-like protein 1; Probable ion channel required for the normal function of cochlear hair cells; Belongs to the TMC family. (757 aa) | ||||
Calm4 | Calmodulin-4; Implicated in the early stage of ectopic ossification. (148 aa) | ||||
Lhfpl1 | LHFPL tetraspan subfamily member 1 protein; Belongs to the LHFP family. (220 aa) | ||||
Tmem132e | Transmembrane protein 132E; Required for normal inner ear hair cell function and hearing. (1074 aa) | ||||
Eps8 | Epidermal growth factor receptor kinase substrate 8; Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and acti [...] (821 aa) | ||||
Gjb2 | Gap junction beta-2 protein; Structural component of gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore. (226 aa) | ||||
Lhfp | LHFPL tetraspan subfamily member 6 protein. (200 aa) | ||||
Prss50 | Probable threonine protease PRSS50; May be involved in proteolysis through its threonine endopeptidase activity; Belongs to the peptidase S1 family. (439 aa) | ||||
Soga1 | C-terminal 80 kDa form; Regulates autophagy by playing a role in the reduction of glucose production in an adiponectin- and insulin-dependent manner. Belongs to the SOGA family. (1654 aa) | ||||
Myo15 | Unconventional myosin-XV; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments (By similarity). Required for the arrangement of stereocilia in mature hair bundles. (3511 aa) | ||||
Calml3 | Calmodulin-like protein 3; May function as a specific light chain of unconventional myosin-10 (MYO10), also enhances MYO10 translation, possibly by acting as a chaperone for the emerging MYO10 heavy chain protein. May compete with calmodulin by binding, with different affinities, to cellular substrates (By similarity). (149 aa) | ||||
Tmc2 | Transmembrane channel-like protein 2; Probable ion channel required for the normal function of cochlear hair cells (By similarity). Component of the hair cell's mechanotransduction (MET) machinery. Involved in mechanosensitive responses of the hair cells (By similarity). (888 aa) | ||||
Whrn | Whirlin; Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. (918 aa) | ||||
Atp2b2 | Plasma membrane calcium-transporting ATPase 2; This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. Plays a role in maintaining balance and hearing; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. (1243 aa) | ||||
Cdh23 | Cadherin-23; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. (3352 aa) | ||||
Myo7a | Unconventional myosin-VIIa; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. Mediates intracellular transport of RPE65 in the retina [...] (2215 aa) | ||||
Anpep | Aminopeptidase N; Broad specificity aminopeptidase which plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Also involved in the processing of various peptides including peptide hormones, such as angiotensin III and IV, neuropeptides, and chemokines (By similarity). May also be involved the cleavage of peptides bound to major histocompatibility complex class II molecules of antigen presenting cells. May have a role in angiogenesis and promote cholesterol crystallization (By similarity). May have a role in amino aci [...] (966 aa) | ||||
Ano1 | Anoctamin-1; Calcium-activated chloride channel (CaCC) which plays an important role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage development. Belongs to the anoctamin family. (1017 aa) | ||||
Ank1 | Ankyrin-1; Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions. In skeletal muscle, isoform Mu7 together with obscurin may provide a molecular link between the sarcoplasmic reticulum and myofibrils. (1907 aa) | ||||
Tmc8 | Transmembrane channel-like protein 8; Probable ion channel. (723 aa) | ||||
Ank3 | Ankyrin-3; Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments (By similarity). In skeletal muscle, required for costamere localization of DMD and betaDAG1. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption. (1961 aa) | ||||
Ank2 | Ankyrin-2; Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic ret [...] (3900 aa) | ||||
Calm5 | Skin calmodulin-related protein 2. (140 aa) | ||||
Pcdh15 | Protocadherin-15; Calcium-dependent cell-adhesion protein. Required for inner ear neuroepithelial cell elaboration and cochlear function. Probably involved in the maintenance of normal retinal function. (1943 aa) | ||||
Kcnk2 | Potassium channel subfamily K member 2; Ion channel that contributes to passive transmembrane potassium transport. Reversibly converts between a voltage-insensitive potassium leak channel and a voltage-dependent outward rectifying potassium channel in a phosphorylation-dependent manner. In astrocytes, forms mostly heterodimeric potassium channels with KCNK1, with only a minor proportion of functional channels containing homodimeric KCNK2. In astrocytes, the heterodimer formed by KCNK1 and KCNK2 is required for rapid glutamate release in response to activation of G-protein coupled recep [...] (426 aa) | ||||
Lhfpl5 | LHFPL tetraspan subfamily member 5 protein; In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation; Belongs to the LHFP family. (219 aa) | ||||
Dnah8 | Dynein heavy chain 8, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly. (4731 aa) |