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TSC2 | tuberous sclerosis 2; In complex with TSC1, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase- activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. Stimulates weakly the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 in vitro. Mutations in TSC2 lead to constitut [...] (1807 aa) | |||
C19orf44 | chromosome 19 open reading frame 44 (657 aa) | |||
MLH1 | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli); Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS- heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to deg [...] (756 aa) | |||
MED28 | mediator complex subunit 28; Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May be part of a complex containing NF2/merlin that [...] (178 aa) | |||
LATS1 | LATS, large tumor suppressor, homolog 1 (Drosophila); Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1 inhibits its translocation in [...] (1130 aa) | |||
FRS3 | fibroblast growth factor receptor substrate 3; Adapter protein that links FGF and NGF receptors to downstream signaling pathways. Involved in the activation of MAP kinases. Down-regulates ERK2 signaling by interfering with the phosphorylation and nuclear translocation of ERK2 (492 aa) | |||
ARHGEF40 | Rho guanine nucleotide exchange factor (GEF) 40; May act as a guanine nucleotide exchange factor (GEF) (By similarity) (1519 aa) | |||
SPERT | spermatid associated (448 aa) | |||
CTNNAL1 | catenin (cadherin-associated protein), alpha-like 1; May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1) (734 aa) | |||
DZIP1L | DAZ interacting protein 1-like (767 aa) | |||
SYCE1 | synaptonemal complex central element protein 1; Major component of the transverse central element of synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Requires SYCP1 in order to be incorporated into the central element. May have a role in the synaptonemal complex assembly, stabilization and recombination (By similarity) (351 aa) | |||
CCNG1 | cyclin G1; May play a role in growth regulation. Is associated with G2/M phase arrest in response to DNA damage. May be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation (By similarity) (295 aa) | |||
TSGA10 | testis specific, 10; May play a role in the sperm tail fibrous sheath, a major sperm tail structure (By similarity) (698 aa) | |||
TXLNB | taxilin beta; Promotes motor nerve regeneration (By similarity). May be involved in intracellular vesicle traffic (684 aa) | |||
SH3RF2 | SH3 domain containing ring finger 2; Inhibits PPP1CA phosphatase activity. May be a E3 ubiquitin-protein ligase (Potential). May play a role in cardiac function (729 aa) | |||
CEP57L1 | centrosomal protein 57kDa-like 1; Centrosomal protein which may be required for microtubule attachment to centrosomes (By similarity) (460 aa) | |||
PLEKHN1 | pleckstrin homology domain containing, family N member 1 (611 aa) | |||
METTL17 | methyltransferase like 17; May be a component of the mitochondrial small ribosomal subunit (By similarity) (478 aa) | |||
DUSP14 | dual specificity phosphatase 14; Involved in the inactivation of MAP kinases. Dephosphorylates ERK, JNK and p38 MAP-kinases (198 aa) | |||
ACTN1 | actinin, alpha 1; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (914 aa) | |||
FAM161A | family with sequence similarity 161, member A; Involved in ciliogenesis (716 aa) | |||
CEP44 | centrosomal protein 44kDa (399 aa) | |||
ZNF655 | zinc finger protein 655 (526 aa) | |||
MMAB | methylmalonic aciduria (cobalamin deficiency) cblB type (250 aa) | |||
GOLGA6L2 | golgin A6 family-like 2 (909 aa) | |||
TUBGCP4 | tubulin, gamma complex associated protein 4; Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome (666 aa) |