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SRSF9 | Serine/arginine-rich splicing factor 9; Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10; Belongs to the splicing factor SR family (221 aa) | |||
MRPL44 | 39S ribosomal protein L44, mitochondrial; Component of the 39S subunit of mitochondrial ribosome. May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome; Mitochondrial ribosomal proteins (332 aa) | |||
SRSF1 | Serine/arginine-rich splicing factor 1; Plays a role in preventing exon skipping, ensuring the accuracy of splicing and regulating alternative splicing. Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5’- and 3’-splice site binding components, U1 snRNP and U2AF. Can stimulate binding of U1 snRNP to a 5’-splice site-containing pre-mRNA. Binds to purine-rich RNA sequences, either the octamer, 5’-RGAAGAAC-3’ (r=A or G) or the decamers, AGGACAGAGC/AGGACGAAGC. Binds preferentially to the 5’- CGAGGCG-3’ motif in vitro. Three copies of the octame [...] (248 aa) | |||
MARS | Methionine--tRNA ligase, cytoplasmic; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction- the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA; Belongs to the class-I aminoacyl-tRNA synthetase family (900 aa) | |||
MCCC1 | Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial; Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism (725 aa) | |||
MARS2 | Methionine--tRNA ligase, mitochondrial; methionyl-tRNA synthetase 2, mitochondrial; Aminoacyl tRNA synthetases, Class I (593 aa) | |||
MED19 | Mediator of RNA polymerase II transcription subunit 19; 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 (194 aa) | |||
ACACB | Acetyl-CoA carboxylase 2; Catalyzes the ATP-dependent carboxylation of acetyl-CoA to malonyl-CoA. Carries out three functions- biotin carboxyl carrier protein, biotin carboxylase and carboxyltransferase. Involved in inhibition of fatty acid and glucose oxidation and enhancement of fat storage (By similarity). May play a role in regulation of mitochondrial fatty acid oxidation through malonyl- CoA-dependent inhibition of carnitine palmitoyltransferase 1 (By similarity) (2458 aa) | |||
MCCC2 | Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial; Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism; Belongs to the AccD/PCCB family (563 aa) | |||
TBC1D20 | TBC1 domain family member 20; GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude (403 aa) | |||
C1orf111 | Spermatogenesis-associated protein 46; Play a role in spermiogenesis and fertilization (261 aa) | |||
YARS | Tyrosine--tRNA ligase, cytoplasmic; Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction- tyrosine is first activated by ATP to form Tyr- AMP and then transferred to the acceptor end of tRNA(Tyr); Belongs to the class-I aminoacyl-tRNA synthetase family (528 aa) | |||
BMS1 | Ribosome biogenesis protein BMS1 homolog; May act as a molecular switch during maturation of the 40S ribosomal subunit in the nucleolus (1282 aa) | |||
PCCA | propionyl-CoA carboxylase alpha subunit (728 aa) | |||
CATSPERD | Cation channel sperm-associated protein subunit delta; Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for CATSPER1 stability before intraflagellar transport and/or incorporation of the CatSper complex channel into the flagellar membrane; Cation channels sperm associated (798 aa) | |||
PC | Pyruvate carboxylase, mitochondrial; Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate (1178 aa) | |||
AIMP1 | Aminoacyl tRNA synthase complex-interacting multifunctional protein 1; Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase. Binds tRNA. Possesses inflammatory cytokine activity. Negatively regulates TGF-beta signaling through stabilization of SMURF2 by binding to SMURF2 and inhibiting its SMAD7-mediated degradation. Involved in glucose homeostasis through induction of glucagon secretion at low glucose levels. Promotes dermal fibroblast proliferation and wound repair. Regulates KDELR1- mediated retention of HSP90B1 [...] (336 aa) | |||
HLCS | Biotin--protein ligase; Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl- CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase (726 aa) | |||
BTD | Biotinidase; Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation (545 aa) | |||
SNRNP35 | Small nuclear ribonucleoprotein U11/U12 subunit 35; RNA binding motif containing (251 aa) | |||
DROSHA | Ribonuclease 3; Ribonuclease III double-stranded (ds) RNA-specific endoribonuclease that is involved in the initial step of microRNA (miRNA) biogenesis. Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DROSHA cleaves the 3’ and 5’ strands of a stem-loop in pri-miRNAs (processing center 11 bp from the dsRNA- ssRNA junction) to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs. Invo [...] (1374 aa) | |||
DICER1 | Endoribonuclease Dicer; Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3’ overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA- induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, a [...] (1922 aa) | |||
TMC7 | Transmembrane channel-like protein 7; Probable ion channel; Transmembrane channel likes (758 aa) | |||
ANKRD29 | Ankyrin repeat domain-containing protein 29; Ankyrin repeat domain containing (301 aa) | |||
SNRNP70 | U1 small nuclear ribonucleoprotein 70 kDa; Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5’ splice-site and the subsequent assembly of the spliceosome. SNRNP70 binds to the loop I region of U1-snRNA. The truncated isoforms cannot bind U1-snRNA; RNA binding motif containing (437 aa) | |||
C3orf27 | Protein GR6; Chromosome 3 open reading frame 27 (149 aa) |