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ACOT13 | acyl-CoA thioesterase 13; Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates. Can also hydrolyze 3- hydroxyphenylacetyl-CoA and 3,4-dihydrohyphenylacetyl-CoA (in vitro) (140 aa) | |||
SNX3 | sorting nexin 3 (162 aa) | |||
SPR | sepiapterin reductase (7,8-dihydrobiopterin-NADP+ oxidoreductase); Catalyzes the final one or two reductions in tetra- hydrobiopterin biosynthesis to form 5,6,7,8-tetrahydrobiopterin (261 aa) | |||
SBDS | Shwachman-Bodian-Diamond syndrome; Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell prol [...] (250 aa) | |||
NDUFA2 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (99 aa) | |||
TOMM40 | translocase of outer mitochondrial membrane 40 homolog (yeast); Channel-forming protein essential for import of protein precursors into mitochondria (By similarity) (361 aa) | |||
SCO2 | SCO2 cytochrome c oxidase assembly protein; Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2) (266 aa) | |||
MRPL53 | mitochondrial ribosomal protein L53 (112 aa) | |||
TIMM44 | translocase of inner mitochondrial membrane 44 homolog (yeast); Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source (452 aa) | |||
STOM | stomatin; Thought to regulate cation conductance. May regulate ASIC2 and ASIC3 gating (By similarity) (288 aa) | |||
RBMS1 | RNA binding motif, single stranded interacting protein 1; Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5’-[AT]CT[AT][AT]T-3’. Probably has a role in DNA replication (406 aa) | |||
SRRM2 | serine/arginine repetitive matrix 2 (2752 aa) | |||
MPLKIP | M-phase specific PLK1 interacting protein; May play a role in maintenance of cell cycle integrity by regulating mitosis or cytokinesis (179 aa) | |||
ACAA1 | acetyl-CoA acyltransferase 1 (424 aa) | |||
SARNP | SAP domain containing ribonucleoprotein; Binds both single-stranded and double-stranded DNA with higher affinity for the single-stranded form. Specifically binds to scaffold/matrix attachment region DNA. Also binds single- stranded RNA. Enhances RNA unwinding activity of DDX39A. May participate in important transcriptional or translational control of cell growth, metabolism and carcinogenesis (210 aa) | |||
UBE4B | ubiquitination factor E4B; Binds to the ubiquitin moieties of preformed conjugates and catalyzes ubiquitin chain assembly in conjunction with E1, E2, and E3 (By similarity) (1302 aa) | |||
UBC | ubiquitin C (685 aa) | |||
CLN3 | ceroid-lipofuscinosis, neuronal 3 (438 aa) | |||
STX7 | syntaxin 7; May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles. Mediates the endocytic trafficking from early endosomes to late endosomes and lysosomes (261 aa) | |||
TIAL1 | TIA1 cytotoxic granule-associated RNA binding protein-like 1; RNA-binding protein. Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis (392 aa) | |||
EIF6 | eukaryotic translation initiation factor 6; Binds to the 60S ribosomal subunit and prevents its association with the 40S ribosomal subunit to form the 80S initiation complex in the cytoplasm. May behave as a stimulatory translation initiation factor downstream insulin/growth factors. Is also involved in ribosome biogenesis. Associates with pre-60S subunits in the nucleus and is involved in its nuclear export. Cytoplasmic release of TIF6 from 60S subunits and nuclear relocalization is promoted by a RACK1 (GNB2L1)-dependent protein kinase C activity (245 aa) | |||
SF1 | splicing factor 1 (673 aa) | |||
SRPRB | signal recognition particle receptor, B subunit; Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system. Has GTPase activity. May mediate the membrane association of SRPR (By similarity) (271 aa) | |||
VDAC3 | voltage-dependent anion channel 3; Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules (By similarity) (284 aa) | |||
SLIRP | SRA stem-loop interacting RNA binding protein; RNA-binding protein that acts as a nuclear receptor corepressor. Probably acts by binding the SRA RNA, and repressing the SRA-mediated nuclear receptor coactivation. Binds the STR7 loop of SRA RNA. Also able to repress glucocorticoid (GR), androgen (AR), thyroid (TR) and VDR-mediated transactivation (109 aa) | |||
NDUFA7 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (113 aa) |