Your Input:
|
||||
RP1 | retinitis pigmentosa 1 (autosomal dominant); Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity) (2156 aa) | |||
ISL1 | ISL LIM homeobox 1; Binds and regulates the promoters of the insulin, glucagon and somatostatin genes. Involved in the specificarion of motor neurons in cooperation with LHX3 and LDB1 (By similarity) (349 aa) | |||
MAPRE3 | microtubule-associated protein, RP/EB family, member 3; Binds to the plus end of microtubules and regulates the dynamics of the microtubule cytoskeleton. Promotes microtubule growth. May be involved in spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity) (281 aa) | |||
RLIM | ring finger protein, LIM domain interacting; E3 ubiquitin-protein ligase. Acts as a negative coregulator for LIM homeodomain transcription factors by mediating the ubiquitination and subsequent degradation of LIM cofactors LDB1 and LDB2 and by mediating the recruitment the SIN3a/histone deacetylase corepressor complex. Ubiquitination and degradation of LIM cofactors LDB1 and LDB2 allows DNA-bound LIM homeodomain transcription factors to interact with other protein partners such as RLIM. Plays a role in telomere length-mediated growth suppression by mediating the ubiquitination and degr [...] (624 aa) | |||
LMO2 | LIM domain only 2 (rhombotin-like 1); Acts with TAL1/SCL to regulate red blood cell development. Also acts with LDB1 to maintain erythroid precursors in an immature state (227 aa) | |||
LYL1 | lymphoblastic leukemia derived sequence 1 (280 aa) | |||
ELF2 | E74-like factor 2 (ets domain transcription factor); Isoform 1 transcriptionally activates the LYN and BLK promoters and acts synergistically with RUNX1 to transactivate the BLK promoter (581 aa) | |||
RB1 | retinoblastoma 1; Key regulator of entry into cell division that acts as a tumor suppressor. Promotes G0-G1 transition when phosphorylated by CDK3/cyclin-C. Acts as a transcription repressor of E2F1 target genes. The underphosphorylated, active form of RB1 interacts with E2F1 and represses its transcription activity, leading to cell cycle arrest. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases SUV39H1, SUV [...] (928 aa) | |||
TAL1 | T-cell acute lymphocytic leukemia 1; Implicated in the genesis of hemopoietic malignancies. It may play an important role in hemopoietic differentiation. Serves as a positive regulator of erythroid differentiation (By similarity) (331 aa) | |||
MAPRE2 | microtubule-associated protein, RP/EB family, member 2; May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity) (327 aa) | |||
NHLH1 | nescient helix loop helix 1; May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system (133 aa) | |||
SSBP2 | single-stranded DNA binding protein 2 (361 aa) | |||
RBBP8 | retinoblastoma binding protein 8; Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in processing meiotic and mitotic double-strand breaks (DSBs) by ensuring both resection and intrachromosomal association of the broken ends. Functions downstream of the MRN complex and ATM, promotes ATR activation and its recruitment to DSBs in the S/G2 phase facilitating the generation of ssDNA. Component of the BRCA1-RBBP8 complex that regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage. Promotes microhomology-mediated alternative end joining (A-NHEJ) d [...] (897 aa) | |||
SP1 | Sp1 transcription factor; Transcription factor that can activate or repress transcription in response to physiological and pathological stimuli. Binds with high affinity to GC-rich motifs and regulates the expression of a large number of genes involved in a variety of processes such as cell growth, apoptosis, differentiation and immune responses. Highly regulated by post-translational modifications (phosphorylations, sumoylation, proteolytic cleavage, glycosylation and acetylation). Binds also the PDGFR- alpha G-box promoter. May have a role in modulating the cellular response to DNA d [...] (785 aa) | |||
TAL2 | T-cell acute lymphocytic leukemia 2 (108 aa) | |||
GATA2 | GATA binding protein 2; Transcriptional activator which regulates endothelin-1 gene expression in endothelial cells. Binds to the consensus sequence 5’-AGATAG-3’ (480 aa) | |||
STAT1 | signal transducer and activator of transcription 1, 91kDa (750 aa) | |||
KDM5B | lysine (K)-specific demethylase 5B; Histone demethylase that demethylates ’Lys-4’ of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 ’Lys-9’ or H3 ’Lys-27’. Demethylates trimethylated, dimethylated and monomethylated H3 ’Lys-4’. Acts as a transcriptional corepressor for FOXG1B and PAX9. Favors the proliferation of breast cancer cells by repressing tumor suppressor genes such as BRCA1 and HOXA5. In contrast, may act as a tumor suppressor for melanoma (1544 aa) | |||
EBF3 | early B-cell factor 3; Transcriptional activator which recognizes variations of the palindromic sequence 5’-ATTCCCNNGGGAATT-3’ (By similarity) (551 aa) | |||
GATA1 | GATA binding protein 1 (globin transcription factor 1); Transcriptional activator which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence [AT]GATA[AG] within regulatory regions of globin genes and of other genes expressed in erythroid cells (413 aa) | |||
GATA3 | GATA binding protein 3; Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. Binds to the consensus sequence 5’-AGATAG-3’ (444 aa) | |||
MLLT4 | myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (1651 aa) | |||
ERG | v-ets erythroblastosis virus E26 oncogene homolog (avian); Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure (486 aa) | |||
KDM5A | lysine (K)-specific demethylase 5A; Histone demethylase that specifically demethylates ’Lys- 4’ of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 ’Lys-9’, H3 ’Lys-27’, H3 ’Lys-36’, H3 ’Lys-79’ or H4 ’Lys-20’. Demethylates trimethylated and dimethylated but not monomethylated H3 ’Lys-4’. May stimulate transcription mediated by nuclear receptors. May be involved in transcriptional regulation of Hox proteins during cell differentiation. May participate in transcriptional repression of cytokines such as CXCL12 (1690 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) | |||
BEX2 | brain expressed X-linked 2; Regulator of mitochondrial apoptosis and G1 cell cycle in breast cancer. Protects the breast cancer cells against mitochondrial apoptosis and this effect is mediated through the modulation of BCL2 protein family, which involves the positive regulation of anti-apoptotic member BCL2 and the negative regulation of pro-apoptotic members BAD, BAK1 and PUMA. Required for the normal cell cycle progression during G1 in breast cancer cells through the regulation of CCND1 and CDKN1A. Regulates the level of PP2A regulatory subunit B and PP2A phosphatase activity (160 aa) |