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TIMM13 | translocase of inner mitochondrial membrane 13 homolog (yeast); Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins [...] (95 aa) | |||
DBX1 | developing brain homeobox 1 (382 aa) | |||
TLX2 | T-cell leukemia homeobox 2; Transcription activator that binds DNA elements with the consensus sequence 5’-CGGTAATTGG-3’. Binds DNA via its homeobox. Required for normal cell death of enteric neurons in the gastrointestinal tract. Required for normal development of the enteric nervous system, and for proper development of normal motility of the gastrointestinal tract (By similarity) (284 aa) | |||
LHX1 | LIM homeobox 1; Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis (406 aa) | |||
LHX5 | LIM homeobox 5; Plays an essential role in the regulation of neuronal differentiation and migration during development of the central nervous system (402 aa) | |||
BARHL1 | BarH-like homeobox 1 (327 aa) | |||
PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha; Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in insulin signaling and secretion. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane and glucose uptake in response to insulin- mediated RHOQ activation. Regulates insulin secretion through two different mechanisms- involved in glucose-induced insulin secretion downs [...] (1686 aa) | |||
TP53 | tumor protein p53; Acts as a tumor suppressor in many tumor types; induces growth arrest or apoptosis depending on the physiological circumstances and cell type. Involved in cell cycle regulation as a trans-activator that acts to negatively regulate cell division by controlling a set of genes required for this process. One of the activated genes is an inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be mediated either by stimulation of BAX and FAS antigen expression, or by repression of Bcl-2 expression (By similarity) (393 aa) | |||
SAE1 | SUMO1 activating enzyme subunit 1; The heterodimer acts as a E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2 (346 aa) | |||
TLX3 | T-cell leukemia homeobox 3 (291 aa) | |||
LDB2 | LIM domain binding 2; Binds to the LIM domain of a wide variety of LIM domain- containing transcription factors (373 aa) | |||
CLTB | clathrin, light chain B; Clathrin is the major protein of the polyhedral coat of coated pits and vesicles (229 aa) | |||
UBE2I | ubiquitin-conjugating enzyme E2I; Accepts the ubiquitin-like proteins SUMO1, SUMO2, SUMO3 and SUMO4 from the UBLE1A-UBLE1B E1 complex and catalyzes their covalent attachment to other proteins with the help of an E3 ligase such as RANBP2 or CBX4. Can catalyze the formation of poly- SUMO chains. Necessary for sumoylation of FOXL2 and KAT5. Essential for nuclear architecture and chromosome segregation. Sumoylates p53/TP53 at ’Lys-386’ (By similarity) (158 aa) | |||
DBX2 | developing brain homeobox 2 (339 aa) | |||
PARK7 | parkinson protein 7; Protects cells against oxidative stress and cell death. Plays a role in regulating expression or stability of the mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the substantia nigra pars compacta and attenuates the oxidative stress induced by calcium entry into the neurons via L-type channels during pacemaking. Eliminates hydrogen peroxide and protects cells against hydrogen peroxide-induced cell death. May act as an atypical peroxiredoxin-like peroxidase that scavenges hydrogen peroxide. Following removal of a C-terminal peptide [...] (189 aa) | |||
AP2A1 | adaptor-related protein complex 2, alpha 1 subunit; Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as [...] (977 aa) | |||
XRCC6 | X-ray repair complementing defective repair in Chinese hamster cells 6; Single stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3’-5’ direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the [...] (609 aa) | |||
HLX | H2.0-like homeobox; Transcription factor required for TBX21/T-bet-dependent maturation of Th1 cells as well as maintenance of Th1-specific gene expression. Involved in embryogenesis and hematopoiesis (By similarity) (488 aa) | |||
TLX1 | T-cell leukemia homeobox 1; Controls the genesis of the spleen. Binds to the DNA sequence 5’-GGCGGTAAGTGG-3’ (330 aa) | |||
BARHL2 | BarH-like homeobox 2; Potential regulator of neural basic helix-loop-helix genes (By similarity) (387 aa) | |||
FAM73A | family with sequence similarity 73, member A (632 aa) | |||
ARX | aristaless related homeobox; Transcription factor required for normal brain development. May be important for maintenance of specific neuronal subtypes in the cerebral cortex and axonal guidance in the floor plate (562 aa) | |||
XRCC5 | X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining); Single stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3’-5’ direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase [...] (732 aa) | |||
LDB1 | LIM domain binding 1; Binds to the LIM domain of a wide variety of LIM domain- containing transcription factors. May regulate the transcriptional activity of LIM-containing proteins by determining specific partner interactions. Play a role in the development of interneurons and motor neurons in cooperation with LHX3 and ISL1. Acts synergistically with LHX1/LIM1 in axis formation and activation of gene expression. Acts with LMO2 in the regulation of red blood cell development, maintaining erythroid precursors in an immature state (By similarity) (411 aa) | |||
NKX1-1 | NK1 homeobox 1 (411 aa) | |||
NKX1-2 | NK1 homeobox 2; May function in cell specification, particularly in the CNS (By similarity) (332 aa) |