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| TBC1D17 | TBC1 domain family member 17; Probable GTPase-activating protein for Rab8; its transient association with Rab8 is mediated by OPTN. Inhibits Rab8-mediated endocytic trafficking, such as of transferrin receptor (TfR) and reduces Rab8 recruitnment to tubules emanating from the endocytic recycling compartment (ERC). Involved in regulation of autophagy. Mediates inhibition of autophagy caused by the OPTN variant GLC1E LYS-50; the function requires its catalytic activity, however, the involved Rab is not known (648 aa) | |||
| EHHADH | Peroxisomal bifunctional enzyme; enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase; In the C-terminal section; belongs to the 3- hydroxyacyl-CoA dehydrogenase family (723 aa) | |||
| GUCY1B3 | Guanylate cyclase soluble subunit beta-1; Mediates responses to nitric oxide (NO) by catalyzing the biosynthesis of the signaling molecule cGMP; Belongs to the adenylyl cyclase class-4/guanylyl cyclase family (619 aa) | |||
| FBXW11 | F-box/WD repeat-containing protein 11; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. SCF(FBXW11) mediates the ubiquitination of phosphorylated CTNNB1 and participates in Wnt signaling. SCF(FBXW11) mediates the ubiquitination of phosphorylated NFKBIA, which degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription. SCF(FBXW11) media [...] (542 aa) | |||
| ACAT1 | Acetyl-CoA acetyltransferase, mitochondrial; Plays a major role in ketone body metabolism (427 aa) | |||
| ACAA2 | 3-ketoacyl-CoA thiolase, mitochondrial; Abolishes BNIP3-mediated apoptosis and mitochondrial damage (397 aa) | |||
| TBC1D21 | TBC1 domain family member 21; May act as a GTPase-activating protein for Rab family protein(s). May be involved in acrosome formation and cytoskeletal reorganization during spermiogenesis, possibly by regulating RAB3A activity (336 aa) | |||
| ECI1 | Enoyl-CoA delta isomerase 1, mitochondrial; Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species (302 aa) | |||
| FAM20C | Extracellular serine/threonine protein kinase FAM20C; Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth. Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome. Mainly phosphorylates proteins within the Ser- x-Glu/pSer motif, but also displays a broader substrate specificity. Phosphorylates casein as well as a number of proteins involved in biomineralization such as AMELX, AMTN, ENAM and SPP1. [...] (584 aa) | |||
| HADHB | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta (474 aa) | |||
| PUS10 | Putative tRNA pseudouridine synthase Pus10; Pseudouridylate synthases catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. PUS10 catalyzes the formation of the universal psi55 in the GC loop of transfer RNAs (Probable). Modulator of TRAIL-induced cell death via activation of procaspase 8 and BID cleavage. Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death (529 aa) | |||
| ACAA1 | 3-ketoacyl-CoA thiolase, peroxisomal; acetyl-CoA acyltransferase 1 (424 aa) | |||
| MXRA7 | Matrix-remodeling-associated protein 7; Matrix remodeling associated 7 (204 aa) | |||
| HIBCH | 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial; Hydrolyzes 3-hydroxyisobutyryl-CoA (HIBYL-CoA), a saline catabolite. Has high activity toward isobutyryl-CoA. Could be an isobutyryl-CoA dehydrogenase that functions in valine catabolism. Also hydrolyzes 3-hydroxypropanoyl-CoA (386 aa) | |||
| WDR64 | WD repeat-containing protein 64; WD repeat domain containing (1081 aa) | |||
| ACAT2 | Acetyl-CoA acetyltransferase, cytosolic; acetyl-CoA acetyltransferase 2 (397 aa) | |||
| ECHS1 | Enoyl-CoA hydratase, mitochondrial; Straight-chain enoyl-CoA thioesters from C4 up to at least C16 are processed, although with decreasing catalytic rate. Has high substrate specificity for crotonyl-CoA and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA and methacrylyl-CoA. It is noteworthy that binds tiglyl-CoA, but hydrates only a small amount of this substrate (290 aa) | |||
| BTRC | F-box/WD repeat-containing protein 1A; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds to phosphorylated target proteins. SCF(BTRC) mediates the ubiquitination of CTNNB1 and participates in Wnt signaling. SCF(BTRC) mediates the ubiquitination of NFKBIA, NFKBIB and NFKBIE; the degradation frees the associated NFKB1 to translocate into the nucleus and to activate transcription. Ubiquitination of NFKBIA occurs at ’Lys- 21 [...] (605 aa) | |||
| FAM206A | Protein Simiate; Family with sequence similarity 206 member A (181 aa) | |||
| TBC1D25 | TBC1 domain family member 25; Acts as a GTPase-activating protein specific for RAB33B. Involved in the regulation of autophagosome maturation, the process in which autophagosomes fuse with endosomes and lysosomes (688 aa) | |||
| HADHA | Trifunctional enzyme subunit alpha, mitochondrial; Bifunctional subunit; In the central section; belongs to the 3-hydroxyacyl- CoA dehydrogenase family (763 aa) | |||
| CDYL | Chromodomain Y-like protein; Isoform 2- Chromatin reader protein that recognizes and binds histone H3 trimethylated at ’Lys-9’, dimethylated at ’Lys- 27’ and trimethylated at ’Lys-27’ (H3K9me3, H3K27me2 and H3K27me3, respectively). Part of multimeric repressive chromatin complexes, where it is required for transmission and restoration of repressive histone marks, thereby preserving the epigenetic landscape. Required for chromatin targeting and maximal enzymatic activity of Polycomb repressive complex 2 (PRC2); acts as a positive regulator of PRC2 activity by bridging the pre-existing h [...] (544 aa) | |||
| PCDHA12 | Protocadherin alpha-12; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain; Clustered protocadherins (941 aa) | |||
| DCTN2 | Dynactin subunit 2; Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development; Dynactin (406 aa) | |||
| TBC1D15 | TBC1 domain family member 15; Acts as a GTPase activating protein for RAB7A. Does not act on RAB4, RAB5 or RAB6 (By similarity) (691 aa) | |||
| CDYL2 | Chromodomain Y like 2 (506 aa) | |||
