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MYOC | myocilin, trabecular meshwork inducible glucocorticoid response; May participate in the obstruction of fluid outflow in the trabecular meshwork (504 aa) | |||
CKM | creatine kinase, muscle; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa (381 aa) | |||
PARP2 | poly (ADP-ribose) polymerase 2; Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks (583 aa) | |||
TDRD1 | tudor domain containing 1 (1189 aa) | |||
ACTN4 | actinin, alpha 4; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Probably involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation (911 aa) | |||
ABCB7 | ATP-binding cassette, sub-family B (MDR/TAP), member 7; Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins (753 aa) | |||
MYOM2 | myomesin 2 (1465 aa) | |||
EIF4A3 | eukaryotic translation initiation factor 4A3; ATP-dependent RNA helicase. Component of a splicing- dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Core components of the EJC, that remains bound to spliced mRNAs throughout all stages of mRNA metabolism, functions to mark the position of the exon-exon junction [...] (411 aa) | |||
CBLC | Cbl proto-oncogene, E3 ubiquitin protein ligase C; Regulator of EGFR mediated signal transduction (474 aa) | |||
TRIM54 | tripartite motif containing 54; May bind and stabilize microtubules during myotubes formation (By similarity) (400 aa) | |||
CKB | creatine kinase, brain; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa (381 aa) | |||
IQCB1 | IQ motif containing B1; Involved in ciliogenesis (By similarity) (598 aa) | |||
FHL2 | four and a half LIM domains 2; May function as a molecular transmitter linking various signaling pathways to transcriptional regulation. Negatively regulates the transcriptional repressor E4F1 and may function in cell growth. Inhibits the transcriptional activity of FOXO1 and its apoptotic function by enhancing the interaction of FOXO1 with SIRT1 and FOXO1 deacetylation (279 aa) | |||
ZDHHC7 | zinc finger, DHHC-type containing 7; Palmitoyltransferase with broad specificity. Palmitoylates SNAP25 and DLG4/PSD95. May palmitoylate GABA receptors on their gamma subunit (GABRG1, GABRG2 and GABRG3) and thereby regulate their synaptic clustering and/or cell surface stability (By similarity). Palmitoylates sex steroid hormone receptors, including ESR1, PGR and AR, thereby regulating their targeting to the plasma membrane. This affects rapid intracellular signaling by sex hormones via ERK and AKT kinases and the generation of cAMP, but does not affect that mediated by their nuclear re [...] (345 aa) | |||
ACTN2 | actinin, alpha 2; F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (894 aa) | |||
NTPCR | nucleoside-triphosphatase, cancer-related; Has nucleotide phosphatase activity towards ATP, GTP, CTP, TTP and UTP. Hydrolyzes nucleoside diphosphates with lower efficiency (190 aa) | |||
PARP1 | poly (ADP-ribose) polymerase 1; Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. Mediates the poly(ADP- ribosyl)ation of APLF and CHFR. Positively regulates the transcription of MTUS1 and negatively regulates the transcription of MTUS2/TIP150. With EEF1A1 and TXK, forms a complex that acts as a [...] (1014 aa) | |||
TRIM63 | tripartite motif containing 63, E3 ubiquitin protein ligase; E3 ubiquitin ligase. Mediates the ubiquitination and subsequent proteasomal degradation of CKM, GMEB1 and HIBADH. Regulates the proteasomal degradation of muscle proteins under amino acid starvation, where muscle protein is catabolized to provide other organs with amino acids. Inhibits de novo skeletal muscle protein synthesis under amino acid starvation. Regulates proteasomal degradation of cardiac troponin I/TNNI3 and probably of other sarcomeric-associated proteins. May play a role in striated muscle atrophy and hypertroph [...] (353 aa) | |||
ASB9 | ankyrin repeat and SOCS box containing 9; Substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes at least two forms of creatine kinase, CKB and CKMT1A (294 aa) | |||
PARP4 | poly (ADP-ribose) polymerase family, member 4 (1724 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) | |||
PARP3 | poly (ADP-ribose) polymerase family, member 3; Involved in the base excision repair (BER) pathway, by catalyzing the poly(ADP-ribosyl)ation of a limited number of acceptor proteins involved in chromatin architecture and in DNA metabolism. This modification follows DNA damages and appears as an obligatory step in a detection/signaling pathway leading to the reparation of DNA strand breaks. May link the DNA damage surveillance network to the mitotic fidelity checkpoint. Negatively influences the G1/S cell cycle progression without interfering with centrosome duplication. Binds DNA. May b [...] (540 aa) | |||
GAMT | guanidinoacetate N-methyltransferase (269 aa) | |||
MIB2 | mindbomb E3 ubiquitin protein ligase 2 (1070 aa) | |||
SUGT1P3 | suppressor of G2 allele of SKP1 (S. cerevisiae) pseudogene 3 (91 aa) | |||
HSPB2 | HSPB2-C11orf52 readthrough (non-protein coding); May regulate the kinase DMPK (182 aa) |