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TRIP13 | Pachytene checkpoint protein 2 homolog; Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for [...] (432 aa) | |||
SEMA4G | Semaphorin-4G; Cell surface receptor for PLXNB2. May play a role in axon guidance (By similarity); Immunoglobulin like domain containing (843 aa) | |||
SEC14L3 | SEC14-like protein 3; Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids; SEC14 family (400 aa) | |||
ARSA | Arylsulfatase A; Hydrolyzes cerebroside sulfate; Belongs to the sulfatase family (509 aa) | |||
SEC14L5 | SEC14-like protein 5; SEC14 like lipid binding 5; PRELI domain containing (696 aa) | |||
SEC14L4 | SEC14-like protein 4; Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids; SEC14 family (406 aa) | |||
TTPA | Alpha-tocopherol transfer protein; Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells. Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity) (278 aa) | |||
UFD1L | Ubiquitin recognition factor in ER-associated degradation protein 1; Essential component of the ubiquitin-dependent proteolytic pathway which degrades ubiquitin fusion proteins. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. It may be involved in the development of some ectoderm-derive [...] (307 aa) | |||
RLBP1 | Retinaldehyde-binding protein 1; Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the ’visual cycle’ (317 aa) | |||
CLVS2 | Clavesin-2; Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (327 aa) | |||
EGFR | Epidermal growth factor receptor; Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses. Known ligands include EGF, TGFA/TGF-alpha, amphiregulin, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF. Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates [...] (1210 aa) | |||
EIF5B | Eukaryotic translation initiation factor 5B; Plays a role in translation initiation. Translational GTPase that catalyzes the joining of the 40S and 60S subunits to form the 80S initiation complex with the initiator methionine-tRNA in the P-site base paired to the start codon. GTP binding and hydrolysis induces conformational changes in the enzyme that renders it active for productive interactions with the ribosome. The release of the enzyme after formation of the initiation complex is a prerequisite to form elongation-competent ribosomes; Belongs to the TRAFAC class translation factor [...] (1220 aa) | |||
KMT2E | Histone-lysine N-methyltransferase 2E; Histone methyltransferase that specifically mono- and dimethylates ’Lys-4’ of histone H3 (H3K4me1 and H3K4me2). H3 ’Lys- 4’ methylation represents a specific tag for epigenetic transcriptional activation. Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation. Plays an essential role in retinoic- acid-induced granulopoiesis by acting as a coactivator of RAR- alpha (RARA) in target gene promoters. Also acts as an im [...] (1858 aa) | |||
DEGS1 | Sphingolipid delta(4)-desaturase DES1; Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine); Fatty acid desaturases (323 aa) | |||
PHF23 | PHD finger protein 23; Acts as a negative regulator of autophagy, through promoting ubiquitination and degradation of LRSAM1, an E3 ubiquitin ligase that promotes autophagy in response to starvation or infecting bacteria; PHD finger proteins (403 aa) | |||
CPLX2 | Complexin-2; Negatively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. Positively regulates a late step in exocytosis of various cytoplasmic vesicles, such as synaptic vesicles and other secretory vesicles. Also involved in mast cell exocytosis (By similarity); Belongs to the complexin/synaphin family (134 aa) | |||
TTPAL | Alpha-tocopherol transfer protein-like; May act as a protein that binds a hydrophobic ligand (342 aa) | |||
FOXP4 | Forkhead box protein P4; Transcriptional repressor that represses lung-specific expression; Forkhead boxes (680 aa) | |||
PHF20 | PHD finger protein 20; Methyllysine-binding protein, component of the MOF histone acetyltransferase protein complex. Not required for maintaining the global histone H4 ’Lys-16’ acetylation (H4K16ac) levels or locus specific histone acetylation, but instead works downstream in transcriptional regulation of MOF target genes (By similarity). As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues. Contributes to methyllysine-dependent p53/TP53 stabilization and up-regulation after DNA damage (1012 aa) | |||
RPGR | X-linked retinitis pigmentosa GTPase regulator; Could be a guanine-nucleotide releasing factor. Plays a role in ciliogenesis. Probably regulates cilia formation by regulating actin stress filaments and cell contractility. Plays an important role in photoreceptor integrity. May play a critical role in spermatogenesis and in intraflagellar transport processes (By similarity). May be involved in microtubule organization and regulation of transport in primary cilia (1152 aa) | |||
SEC14L1 | SEC14-like protein 1; May play a role in innate immunity by inhibiting the antiviral RIG-I signaling pathway. In this pathway, functions as a negative regulator of DDX58/RIG-I, the cytoplasmic sensor of viral nucleic acids. Prevents the interaction of DDX58 with MAVS/IPS1, an important step in signal propagation. May also regulate the SLC18A3 and SLC5A7 cholinergic transporters; PRELI domain containing (719 aa) | |||
SEC14L6 | Putative SEC14-like protein 6; SEC14 like lipid binding 6 (397 aa) | |||
CYHR1 | Cysteine and histidine rich 1; Belongs to the CYHR1 family (362 aa) | |||
ENSG00000249590 | Uncharacterized protein (338 aa) | |||
CLVS1 | Clavesin-1; Required for normal morphology of late endosomes and/or lysosomes in neurons (By similarity). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (354 aa) | |||
SEC14L2 | SEC14-like protein 2; Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May have a transcriptional activatory activity via its association with alpha-tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell; SEC14 family (403 aa) |