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CRY1 | cryptochrome 1 (photolyase-like); Blue light-dependent regulator of the circadian feedback loop. Inhibits CLOCK|NPAS2-ARNTL E box-mediated transcription. Acts, in conjunction with CRY2, in maintaining period length and circadian rhythmicity. Has no photolyase activity. Capable of translocating circadian clock core proteins such as PER proteins to the nucleus. May inhibit CLOCK|NPAS2-ARNTL transcriptional activity through stabilizing the unphosphorylated form of ARNTL (586 aa) | |||
CNTFR | ciliary neurotrophic factor receptor; Binds to CNTF. The alpha subunit provides the receptor specificity (372 aa) | |||
THAP10 | THAP domain containing 10 (257 aa) | |||
ZNF764 | zinc finger protein 764; May be involved in transcriptional regulation (408 aa) | |||
CHCHD3 | coiled-coil-helix-coiled-coil-helix domain containing 3; Required for maintenance of mitochondrial crista integrity and mitochondrial function. May act as a scaffolding protein that stabilizes protein complexes involved in crista architecture and protein import. Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription (227 aa) | |||
CHIC2 | cysteine-rich hydrophobic domain 2 (165 aa) | |||
PHLDA1 | pleckstrin homology-like domain, family A, member 1; Seems to be involved in regulation of apoptosis. May be involved in detachment-mediated programmed cell death. May mediate apoptosis during neuronal development. May be involved in regulation of anti-apoptotic effects of IGF1. May be involved in translational regulation (401 aa) | |||
SPG7 | spastic paraplegia 7 (pure and complicated autosomal recessive); Putative ATP-dependent zinc metalloprotease (795 aa) | |||
ADAMTSL4 | ADAMTS-like 4; Positive regulation of apoptosis. May facilitate FBN1 microfibril biogenesis (1074 aa) | |||
OTX1 | orthodenticle homeobox 1; Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS)- 5’-TCTAATCCC-3’ (354 aa) | |||
CATSPER1 | cation channel, sperm associated 1; Voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte. Activated by extracellular progesterone and prostaglandins following the sequence- progesterone > PGF1-alpha = PGE1 > PGA1 > PGE2 >> PGD2. The primary effect of progesterone activation is to shift voltage dependence towards more physiological, negative membrane potentials; it is not mediated by metabotropic receptors and second m [...] (780 aa) | |||
GLRX3 | glutaredoxin 3; Critical negative regulator of cardiac hypertrophy and a positive inotropic regulator (By similarity). May play a role in regulating the function of the thioredoxin system. Does not posses any thyoredoxin activity since it lacks the conserved motif that is essential for catalytic activity (335 aa) | |||
RERE | arginine-glutamic acid dipeptide (RE) repeats; Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death (1566 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) | |||
PLSCR1 | phospholipid scramblase 1; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system (318 aa) | |||
PLSCR4 | phospholipid scramblase 4; May mediate accelerated ATP-independent bidirectional transbilayer migration of phospholipids upon binding calcium ions that results in a loss of phospholipid asymmetry in the plasma membrane. May play a central role in the initiation of fibrin clot formation, in the activation of mast cells and in the recognition of apoptotic and injured cells by the reticuloendothelial system (329 aa) | |||
TOP3B | topoisomerase (DNA) III beta; Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5’-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3’-OH DNA strand. The free DNA strand than undergoes passage around the unbroken strand thus removing DNA supercoi [...] (862 aa) | |||
DLK2 | delta-like 2 homolog (Drosophila); Regulates adipogenesis (By similarity) (383 aa) | |||
SMCP | sperm mitochondria-associated cysteine-rich protein; Involved in sperm motility. Its absence is associated with genetic background dependent male infertility. Infertility may be due to reduced sperm motility in the female reproductive tract and inability to penetrate the oocyte zona pellucida (By similarity) (116 aa) | |||
C10orf62 | chromosome 10 open reading frame 62 (223 aa) | |||
NPDC1 | neural proliferation, differentiation and control, 1; Suppresses oncogenic transformation in neural and non- neural cells and down-regulates neural cell proliferation. Might be involved in transcriptional regulation (By similarity) (325 aa) | |||
SPRY2 | sprouty homolog 2 (Drosophila); May function as an antagonist of fibroblast growth factor (FGF) pathways and may negatively modulate respiratory organogenesis (315 aa) | |||
SLC25A6 | solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6; Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis (298 aa) | |||
FBXL18 | F-box and leucine-rich repeat protein 18; Substrate-recognition component of the SCF (SKP1-CUL1-F- box protein)-type E3 ubiquitin ligase complex (By similarity) (718 aa) | |||
KRTAP4-12 | keratin associated protein 4-12; In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high- sulfur and high-glycine-tyrosine keratins (201 aa) | |||
ATG12 | autophagy related 12; Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through an ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. The ATG12-ATG5 conjugate also regulates negatively the innate antiviral immune response by blocking the type I IFN production pathway through direct associ [...] (140 aa) |