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ATXN1 | ataxin 1; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function (815 aa) | |||
PITX1 | paired-like homeodomain 1; May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb (314 aa) | |||
TBX6 | T-box 6; T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells- neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia (By similarity) (436 aa) | |||
RBM47 | RNA binding motif protein 47 (593 aa) | |||
FAM46D | family with sequence similarity 46, member D (389 aa) | |||
RBFOX1 | RNA binding protein, fox-1 homolog (C. elegans) 1; RNA-binding protein that regulates alternative splicing events by binding to 5’-UGCAUGU-3’ elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis (418 aa) | |||
BOLL | bol, boule-like (Drosophila); Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3’-UTR of mRNAs and regulating their translation (By similarity) (295 aa) | |||
R3HDM2 | R3H domain containing 2 (976 aa) | |||
PRKAG1 | protein kinase, AMP-activated, gamma 1 non-catalytic subunit; AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes- inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Al [...] (340 aa) | |||
CDKN2D | cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4); Interacts strongly with CDK4 and CDK6 and inhibits them (166 aa) | |||
RBPMS | RNA binding protein with multiple splicing; Acts as a coactivator of transcriptional activity. Required to increase TGFB1/Smad-mediated transactivation. Acts through SMAD2, SMAD3 and SMAD4 to increase transcriptional activity. Increases phosphorylation of SMAD2 and SMAD3 on their C- terminal SSXS motif, possibly through recruitment of TGFBR1. Promotes the nuclear accumulation of SMAD2, SMAD3 and SMAD4 proteins. Binds to poly(A) RNA (219 aa) | |||
HOXA1 | homeobox A1; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments (335 aa) | |||
AKAP9 | A kinase (PRKA) anchor protein (yotiao) 9 (3907 aa) | |||
VENTX | VENT homeobox; May be involved in ventralization (258 aa) | |||
C6orf165 | chromosome 6 open reading frame 165 (622 aa) | |||
SMAP2 | small ArfGAP2 (429 aa) | |||
ROR2 | receptor tyrosine kinase-like orphan receptor 2; Tyrosine-protein kinase receptor which may be involved in the early formation of the chondrocytes. It seems to be required for cartilage and growth plate development. Phosphorylates YWHAB, leading to induction of osteogenesis and bone formation (943 aa) | |||
PRR20A | proline rich 20A (221 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) | |||
MAPK1IP1L | mitogen-activated protein kinase 1 interacting protein 1-like (245 aa) | |||
IPO11 | importin 11; Functions in nuclear protein import as nuclear transport receptor. Serves as receptor for nuclear localization signals (NLS) in cargo substrates. Is thought to mediate docking of the importin/substrate complex to the nuclear pore complex (NPC) through binding to nucleoporin and the complex is subsequently translocated through the pore by an energy requiring, Ran- dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to the importin, the importin/substrate complex dissociates and importin is re-exported from the nucleus to the cytoplasm where GTP hydrolysis r [...] (1015 aa) | |||
RBFOX2 | RNA binding protein, fox-1 homolog (C. elegans) 2; RNA-binding protein that regulates alternative splicing events (By similarity) (451 aa) | |||
C1orf94 | chromosome 1 open reading frame 94 (598 aa) | |||
USO1 | USO1 vesicle docking protein homolog (yeast); General vesicular transport factor required for intercisternal transport in the Golgi stack; it is required for transcytotic fusion and/or subsequent binding of the vesicles to the target membrane. May well act as a vesicular anchor by interacting with the target membrane and holding the vesicular and target membranes in proximity (By similarity) (971 aa) | |||
DAZAP2 | DAZ associated protein 2 (207 aa) | |||
RAD51D | RAD51 homolog D (S. cerevisiae) (348 aa) |