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| ATP7B | Copper-transporting ATPase 2; Copper ion transmembrane transporter involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile; ATPase copper transporting (1465 aa) | |||
| ATXN1 | Ataxin-1; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. In concert with CIC and ATXN1L, involved in brain development (By similarity) (815 aa) | |||
| SLC27A1 | Long-chain fatty acid transport protein 1; Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. The LFCA import appears to be hormone-regulated in a tissue-specific manner. In adipocytes, but not myocytes, insulin induces a rapid translocation of FATP1 from intracellular compartments to the plasma membrane, paralleled by increased LFCA uptake. May act directly as a bona fide transporter, or alternatively, in a cytoplasmic or membrane- associated multimeric protein complex to trap and draw fatty acids towards accumulation. Plays a pivotal role in regula [...] (646 aa) | |||
| HSD17B7 | 3-keto-steroid reductase; Responsible for the reduction of the keto group on the C-3 of sterols; Short chain dehydrogenase/reductase superfamily (341 aa) | |||
| DNHD1 | Dynein heavy chain domain 1 (4753 aa) | |||
| DNAH3 | Dynein heavy chain 3, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity); Belongs to the dynein heavy chain family (4116 aa) | |||
| DNAH9 | Dynein heavy chain 9, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP; Dyneins, axonemal (4486 aa) | |||
| SLC27A6 | Long-chain fatty acid transport protein 6; Involved in translocation of long-chain fatty acids (LFCA) across the plasma membrane. Thought to function as the predominant fatty acid protein transporter in heart; Acyl-CoA synthetase family (619 aa) | |||
| SLC27A5 | Bile acyl-CoA synthetase; Acyl-CoA synthetase involved in bile acid metabolism. Proposed to catalyze the first step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi by activating them to their CoA thioesters. Seems to activate secondary bile acids entering the liver from the enterohepatic circulation. In vitro, also activates 3-alpha,7- alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol; Belongs to the ATP-dependent AMP-binding enzyme family (690 aa) | |||
| DNAH5 | Dynein heavy chain 5, axonemal; Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles; Dyneins, axonemal (4624 aa) | |||
| CHKA | Choline kinase alpha; Has a key role in phospholipid biosynthesis and may contribute to tumor cell growth. Catalyzes the first step in phosphatidylcholine biosynthesis. Contributes to phosphatidylethanolamine biosynthesis. Phosphorylates choline and ethanolamine. Has higher activity with choline (457 aa) | |||
| SLC27A2 | Very long-chain acyl-CoA synthetase; Acyl-CoA synthetase probably involved in bile acid metabolism. Proposed to activate C27 precursors of bile acids to their CoA thioesters derivatives before side chain cleavage via peroxisomal beta-oxidation occurs. In vitro, activates 3-alpha,7- alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol. Does not utilize C24 bile acids as substrates. In vitro, also activates long- and branched-chain fatty acids and may have additional roles in fatty acid metabolism. May [...] (620 aa) | |||
| COMMD1 | COMM domain-containing protein 1; Proposed scaffold protein that is implicated in diverse physiological processes and whose function may be in part linked to its ability to regulate ubiquitination of specific cellular proteins. Can modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes by displacing CAND1; in vitro promotes CRL E3 activity and dissociates CAND1 from CUL1 and CUL2. Promotes ubiquitination of NF-kappa-B subunit RELA and its subsequent proteasomal degradation. Down-regulates NF-kappa-B activity. Involved in the regulation of membrane expression and ubiquitin [...] (190 aa) | |||
| CLU | Clusterin; Isoform 1 functions as extracellular chaperone that prevents aggregation of nonnative proteins. Prevents stress- induced aggregation of blood plasma proteins. Inhibits formation of amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA and aggregation-prone LYZ variants (in vitro). Does not require ATP. Maintains partially unfolded proteins in a state appropriate for subsequent refolding by other chaperones, such as HSPA8/HSC70. Does not refold proteins by itself. Binding to cell surface receptors triggers internalization of the chaperone-client complex and subsequent lysosom [...] (449 aa) | |||
| ZBTB16 | Zinc finger and BTB domain-containing protein 16; Probable transcription factor. May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins; Belongs to the krueppel C2H2-type zinc-finger protein family (673 aa) | |||
| HP | Haptoglobin; As a result of hemolysis, hemoglobin is found to accumulate in the kidney and is secreted in the urine. Haptoglobin captures, and combines with free plasma hemoglobin to allow hepatic recycling of heme iron and to prevent kidney damage. Haptoglobin also acts as an Antimicrobial; Antioxidant, has antibacterial activity and plays a role in modulating many aspects of the acute phase response. Hemoglobin/haptoglobin complexes are rapidely cleared by the macrophage CD163 scavenger receptor expressed on the surface of liver Kupfer cells through an endocytic lysosomal degradation [...] (406 aa) | |||
| DYNC1H1 | Cytoplasmic dynein 1 heavy chain 1; Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression; Belongs to the dynein heavy chain family (4646 aa) | |||
| R3HDM4 | R3H domain containing 4 (268 aa) | |||
| ALDH18A1 | Delta-1-pyrroline-5-carboxylate synthase; Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine (795 aa) | |||
| GLRX | Glutaredoxin-1; Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins; Glutaredoxin domain containing (106 aa) | |||
| SOD3 | Extracellular superoxide dismutase [Cu-Zn]; Protect the extracellular space from toxic effect of reactive oxygen intermediates by converting superoxide radicals into hydrogen peroxide and oxygen (240 aa) | |||
| LSS | Lanosterol synthase; Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. Through the production of lanosterol may regulate lens protein aggregation and increase transparency; Belongs to the terpene cyclase/mutase family (732 aa) | |||
| CHKB | Choline/ethanolamine kinase; Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis; Belongs to the choline/ethanolamine kinase family (395 aa) | |||
| DCTN4 | Dynactin subunit 4; Could have a dual role in dynein targeting and in ACTR1A/Arp1 subunit of dynactin pointed-end capping. Could be involved in ACTR1A pointed-end binding and in additional roles in linking dynein and dynactin to the cortical cytoskeleton (467 aa) | |||
| ATOX1 | Copper transport protein ATOX1; Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense; Belongs to the ATX1 family (68 aa) | |||
| CCS | Copper chaperone for superoxide dismutase; Delivers copper to copper zinc superoxide dismutase (SOD1) (274 aa) | |||
