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APLP1 | Amyloid-like protein 1; May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding (By similarity). Couples to JIP signal transduction through C-terminal binding. May interact with cellular G-protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I; Belongs to the APP family (651 aa) | |||
COMP | Cartilage oligomeric matrix protein; May play a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BI [...] (757 aa) | |||
PIWIL1 | Piwi-like protein 1; Endoribonuclease that plays a central role in postnatal germ cells by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Directly binds methylated piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived fr [...] (861 aa) | |||
VHL | Von Hippel-Lindau disease tumor suppressor; Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia- inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2; Belongs to the VHL family (213 aa) | |||
PPP1R12C | Protein phosphatase 1 regulatory subunit 12C; Regulates myosin phosphatase activity; Ankyrin repeat domain containing (782 aa) | |||
APLP2 | Amyloid-like protein 2; May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA 5’-GTCACATG-3’(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in fibroblasts (By similarity) (763 aa) | |||
APP | Amyloid-beta A4 protein; N-APP binds TNFRSF21 triggering caspase activation and degeneration of both neuronal cell bodies (via caspase-3) and axons (via caspase-6); Endogenous ligands (770 aa) | |||
HHIP | Hedgehog-interacting protein; Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family (700 aa) | |||
PIWIL4 | Piwi-like protein 4; Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons (By similarity). Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from [...] (852 aa) | |||
COL6A2 | Collagen alpha-2(VI) chain; Collagen VI acts as a cell-binding protein; Collagens (1019 aa) | |||
WFDC13 | WAP four-disulfide core domain protein 13; Putative acid-stable proteinase inhibitor; WAP four-disulfide core domain containing (93 aa) | |||
PIWIL3 | Piwi-like protein 3; May play a role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Directly binds piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequen [...] (882 aa) | |||
COL9A3 | Collagen alpha-3(IX) chain; Structural component of hyaline cartilage and vitreous of the eye; Collagen proteoglycans (684 aa) | |||
RBPJ | Recombining binding protein suppressor of hairless; Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of chromatin remodeling [...] (500 aa) | |||
EGFLAM | Pikachurin; Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity); Fibronectin type III domain containing (1017 aa) | |||
PIWIL2 | Piwi-like protein 2; Endoribonuclease that plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent re [...] (973 aa) | |||
COL9A1 | Collagen alpha-1(IX) chain; Structural component of hyaline cartilage and vitreous of the eye; Collagen proteoglycans (921 aa) | |||
COL6A1 | Collagen alpha-1(VI) chain; Collagen VI acts as a cell-binding protein; Belongs to the type VI collagen family (1028 aa) | |||
COL9A2 | Collagen alpha-2(IX) chain; Structural component of hyaline cartilage and vitreous of the eye; Collagen proteoglycans (689 aa) | |||
HSPG2 | Basement membrane-specific heparan sulfate proteoglycan core protein; Integral component of basement membranes. Component of the glomerular basement membrane (GBM), responsible for the fixed negative electrostatic membrane charge, and which provides a barrier which is both size- and charge-selective. It serves as an attachment substrate for cells. Plays essential roles in vascularization. Critical for normal heart development and for regulating the vascular response to injury. Also required for avascular cartilage development; I-set domain containing (4391 aa) | |||
AGRN | Agrin; Agrin N-terminal 110 kDa subunit- is involved in regulation of neurite outgrowth probably due to the presence of the glycosaminoglcan (GAG) side chains of heparan and chondroitin sulfate attached to the Ser/Thr- and Gly/Ser-rich regions. Also involved in modulation of growth factor signaling (By similarity); Proteoglycans (2045 aa) | |||
COL2A1 | Collagen alpha-1(II) chain; Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces (1487 aa) | |||
MAG | Myelin-associated glycoprotein; Adhesion molecule that mediates interactions between myelinating cells and neurons by binding to neuronal sialic acid- containing gangliosides and to the glycoproteins RTN4R and RTN4RL2 (By similarity). Not required for initial myelination, but seems to play a role in the maintenance of normal axon myelination. Protects motoneurons against apoptosis, also after injury; protection against apoptosis is probably mediated via interaction with neuronal RTN4R and RTN4RL2. Required to prevent degeneration of myelinated axons in adults; this probably depends on [...] (626 aa) | |||
CTPS2 | CTP synthase 2; Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides (586 aa) | |||
BOC | Brother of CDO; Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells; Fibronectin type III domain containing (1114 aa) | |||
EYS | Protein eyes shut homolog; Required to maintain the integrity of photoreceptor cells; Belongs to the EYS family (3144 aa) |