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ARSA | arylsulfatase A; Hydrolyzes cerebroside sulfate (509 aa) | |||
STS | steroid sulfatase (microsomal), isozyme S; Conversion of sulfated steroid precursors to estrogens during pregnancy (583 aa) | |||
MCEE | methylmalonyl CoA epimerase (176 aa) | |||
TREH | trehalase (brush-border membrane glycoprotein); Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose (582 aa) | |||
ARSB | arylsulfatase B (533 aa) | |||
SUMF1 | sulfatase modifying factor 1 (374 aa) | |||
WDR82 | WD repeat domain 82; Regulatory component of the SET1 complex implicated in the tethering of this complex to transcriptional start sites of active genes. Facilitates histone H3 ’Lys-4’ methylation via recruitment of the SETD1A or SETD1B to the ’Ser-5’ phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Component of PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase (313 aa) | |||
APLF | aprataxin and PNKP like factor; Nuclease involved in single-strand and double-strand DNA break repair. Recruited to sites of DNA damage through interaction with poly(ADP-ribose), a polymeric post-translational modification synthesized transiently at sites of chromosomal damage to accelerate DNA strand break repair reactions. Displays apurinic- apyrimidinic (AP) endonuclease and 3’-5’ exonuclease activities in vitro. Also able to introduce nicks at hydroxyuracil and other types of pyrimidine base damage (511 aa) | |||
FKBP2 | FK506 binding protein 2, 13kDa; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (142 aa) | |||
FKBP10 | FK506 binding protein 10, 65 kDa; PPIases accelerate the folding of proteins during protein synthesis (582 aa) | |||
ARSJ | arylsulfatase family, member J (599 aa) | |||
PPP1CA | protein phosphatase 1, catalytic subunit, alpha isozyme; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent p [...] (341 aa) | |||
COL4A5 | collagen, type IV, alpha 5; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ’chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen (1691 aa) | |||
ARSI | arylsulfatase family, member I; Displays arylsulfatase activity at neutral pH, when co- expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts (569 aa) | |||
SUMF2 | sulfatase modifying factor 2 (358 aa) | |||
UBC | ubiquitin C (685 aa) | |||
RPS21 | ribosomal protein S21 (83 aa) | |||
ARSF | arylsulfatase F (590 aa) | |||
RAE1 | RAE1 RNA export 1 homolog (S. pombe); Binds mRNA. May function in nucleocytoplasmic transport and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton (368 aa) | |||
H2AFX | H2A histone family, member X; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Required for checkpoint-mediated arrest of cell cycle progression in resp [...] (143 aa) | |||
ARSK | arylsulfatase family, member K (536 aa) | |||
ARSH | arylsulfatase family, member H (562 aa) | |||
ARSE | arylsulfatase E (chondrodysplasia punctata 1); May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates (589 aa) | |||
ARSD | arylsulfatase D (593 aa) | |||
ELAVL1 | ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R); Involved in 3’-UTR ARE-mediated MYC stabilization. Binds avidly to the AU-rich element in FOS and IL3/interleukin-3 mRNAs. In the case of the FOS AU-rich element, HUR binds to a core element of 27 nucleotides that contain AUUUA, AUUUUA and AUUUUUA motifs. Binds preferentially to the 5’-UUUU[AG]UUU-3’ motif in vitro (326 aa) | |||
ZDHHC17 | zinc finger, DHHC-type containing 17; Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HD. Palmitoylates MPP1 in erythrocytes. May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane. Has transforming activity. Mediates Mg(2+) transport (632 aa) |