| SARS-2-CoV nsp interaktioproteiinit ihmisen proteiineissa (32) | Gene Cards ja PubMed apuna. |
(1) NDUFAF2, (5q12.1)
https://www.ncbi.nlm.nih.gov/gene/91942
NADH:ubiquinone oxidoreductase complex assembly factor 2.
Also known as MMTN; B17.2L; MC1DN10; mimitin; NDUFA12L
Summary: NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008] ExpressionUbiquitous expression in fat (RPKM 14.6), adrenal (RPKM 11.1) and 25 other tissues See more
(2) TOR1AIP1,(1q.25.2), torsin 1A interacting protein 1.
,https://www.ncbi.nlm.nih.gov/gene/26092
.Also known asLAP1; LAP1B; LAP1C; LGMD2Y
This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Expression Ubiquitous expression in thyroid (RPKM 27.1), ovary (RPKM 27.0) and 25 other tissues See more
(3) RAB18, (10p2.1) Ras-related protein Rab-18.
https://www.ncbi.nlm.nih.gov/gene/22931
RAB18, member RAS oncogene family. Also known as WARBM3; RAB18LI1
The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Expression Ubiquitous expression in adrenal (RPKM 23.5), brain (RPKM 23.2) and 25 other tissues See more
(4) LMAN2 , Lectin, Mannose Binding 2. Vesicular Integral-Membrane Protein VIP36.
https://www.ncbi.nlm.nih.gov/gene/10960
https://www.genecards.org/cgi-bin/carddisp.pl?gene=LMAN2.
This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq, Oct 2008]
(5) FAM162A, (3q21.1) , Protein FAM162A
https://www.ncbi.nlm.nih.gov/gene/26355
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM162A&keywords=FAM162A
Proposed to be involved in regulation of apoptosis; the exact mechanism may differ between cell types/tissues. May be involved in hypoxia-induced cell death of transformed cells implicating cytochrome C release and caspase activation (such as CASP9) and inducing mitochondrial permeability transition. May be involved in hypoxia-induced cell death of neuronal cells probably by promoting release of AIFM1 from mitochondria to cytoplasm and its translocation to the nucleus; however, the involvement of caspases has been reported conflictingly.
(6) MOGS, Mannosyl-Oligosaccharide Glucosidase
https://www.ncbi.nlm.nih.gov/gene/7841 .https://www.genecards.org/cgi-bin/carddisp.pl?gene=MOGS&keywords=MOGS.
This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
(7) AGPS, (2q31.3), Alkyldihydroxyacetonephosphate synthase, peroxisomal,
https://www.genecards.org/cgi-bin/carddisp.pl?gene=AGPS&keywords=AGPS
Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. alkyl-dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid biosynthesis.. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008 ADAS_HUMAN,O00116
(8) MTARC1, (1q41), Mitochondrial amidoxime-reducing component 1.
https://www.ncbi.nlm.nih.gov/gene/64757.https://www.genecards.org/cgi-bin/carddisp.pl?gene=MTARC1&keywords=MTARC1.
Catalyzes the reduction of N-oxygenated molecules, acting as a counterpart of cytochrome P450 and flavin-containing monooxygenases in metabolic cycles . As a component of prodrug-converting system, reduces a multitude of N-hydroxylated prodrugs particularly amidoximes, leading to increased drug bioavailability. May be involved in mitochondrial N(omega)-hydroxy-L-arginine (NOHA) reduction, regulating endogenous nitric oxide (NO) levels and biosynthesis. Postulated to cleave the N-OH bond of N-hydroxylated substrates in concert with electron transfer from NADH to cytochrome b5 reductase then to cytochrome b5, the ultimate electron donor that primes the active site for substrate reduction. . MARC1_HUMAN,Q5VT66
(9) CYB5B, (16q22.1), Cytochrome b5 type B.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5B&keywords=CYB5B
Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.
(10) QSOX2,(9q34.3), Sulfhydryloxidase 2, Quiescin sulfhhydryl oxidase 2. https://www.genecards.org/cgi-bin/carddisp.pl?gene=QSOX2&keywords=QSOX2
Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. Also seems to play a role in regulating the sensitization of neuroblastoma cells for interferon-gamma-induced apoptosis. Alias: Thiol oxidase 2 . QSOX2_HUMAN,Q6ZRP7
(11) GNG5, (1p22.3), Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=GNG5&keywords=GNG5.
- (G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules.)
- https://ars.els-cdn.com/content/image/3-s2.0-B9780123858702000093-f09-03-9780123858702.jpg
The protein encoded by this gene is a member of the RAS superfamily which are small
https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB8A&keywords=RAB8A
This protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. RAB8A_HUMAN,P61006
- ( GTP/GDP-binding proteins with an average size of 200 amino acids. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle** between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. That Rab8A is involved in polarized vesicular trafficking and neurotransmitter release. Together with RAB11A, RAB3IP, the exocyst complex, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis. Together with MYO5B and RAB11A participates in epithelial cell polarization. May be involved in ciliogenesis. Together with MICALL2, may also regulate adherens junction assembly (By similarity). May play a role in insulin-induced transport to the plasma membrane of the glucose transporter GLUT4 and therefore play a role in glucose homeostasis (By similarity). Involved in autophagy (PubMed:27103069).
- ** https://figshare.com/articles/The_Rab_GTPase_cycle/847/1
- Ras superfamily: https://jcs.biologists.org/content/118/5/843
https://www.genecards.org/cgi-bin/carddisp.pl?gene=CYB5R3&keywords=CYB5R3.
Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction. This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain.
(14) COMT, (22q11.21), Catechol-O-methyltransferase.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=COMT&keywords=COMT. Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. Catalyzes the O-methylation, and thereby the inactivation, of catecholamine neurotransmitters and catechol hormones. Also shortens the biological half-lives of certain neuroactive drugs, like L-DOPA, alpha-methyl DOPA and isoproterenol. (That means:)
In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters.
(15) SELENOS, (15q26.3), Selenoprotein S .
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SELENOS&keywords=SELENOS.
Involved in the degradation process of misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Probably acts by serving as a linker between DERL1, which mediates the retrotranslocation of misfolded proteins into the cytosol, and the ATPase complex VCP, which mediates the translocation and ubiquitination. SELS_HUMAN,Q9BQE4.
This potein may also have a role in inflammation control. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Two additional phylogenetically conserved stem-loop structures (Stem-loop 1 and Stem-loop 2) in the 3' UTR of this mRNA have been shown to function as modulators of Sec insertion. An alternatively spliced transcript variant, lacking the SECIS element and encoding a non-Sec containing shorter isoform, has been described for this gene (PMID:23614019). [provided by RefSeq, Jul 2017].
(16) NAT14, (19q13.42), N-acetyltransferase 14,
Probable acetyltransferase that binds the 5'-GGACTACAG-3' sequence of coproporphyrinogen oxidase promoter. Able to activate transcription of a reporter construct in vitro. NAT14_HUMAN,Q8WUY8.
(17) RAB14, (9q33.2), Ras-related protein Rab14.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB14&keywords=RAB14
Involved in membrane trafficking between the
Golgi complex and endosomes during early embryonic development.
Regulates the Golgi to endosome transport of FGFR-containing vesicles
during early development, a key process for developing basement membrane
and epiblast and primitive endoderm lineages during early
postimplantation development. May act by modulating the kinesin
KIF16B-cargo association to endosomes (By similarity). Regulates,
together with its guanine nucleotide exchange factor DENND6A, the
specific endocytic transport of ADAM10, N-cadherin/CDH2 shedding and
cell-cell adhesion. RAB14_HUMAN,P61106.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACSL3&keywords=ACSL3.
The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates.Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Mitochondrial LC-Fatty Acid Beta-Oxidation.
(19) RALA, (7p14.1), Ras-related protein Ral-A
https://www.ncbi.nlm.nih.gov/gene/5898
RAS like proto-oncogene A. Also known as RAL.
Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles. The RALA-exocyst complex regulates integrin-dependent membrane raft exocytosis and growth signaling (PubMed:20005108). Key regulator of LPAR1 signaling and competes with GRK2 for binding to LPAR1 thus affecting the signaling properties of the receptor. Required for anchorage-independent proliferation of transformed cells (PubMed:19306925). During mitosis, supports the stabilization and elongation of the intracellular bridge between dividing cells. Cooperates with EXOC2 to recruit other components of the exocyst to the early midbody (PubMed:18756269). RALA_HUMAN,P11233
(20) RAB5C, (17q21.2), Ras-related protein Rab-5C.
https://www.ncbi.nlm.nih.gov/gene/5878
RAB5C, member RAS oncogene family. Also known as RABL; L1880; RAB5L; RAB5CL
Summary: Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in kidney (RPKM 55.2), bone marrow (RPKM 47.2) and 25 other tissues See more
RAB5C (RAB5C, Diseases associated with RAB5C include Argentine Hemorrhagic Fever. Among its related pathways are Metabolism of proteins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include GTP binding and GDP binding. An important paralog of this gene is RAB5A .https://www.genecards.org/Search/Keyword?queryString=RAB5C
(21) RAB7A, (3q21.3), Ras-related protein Rab-7a
https://www.ncbi.nlm.nih.gov/gene/7879
Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. Plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbial pathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e.g. Salmonella) and sometimes by excluding RAB7A function (e.g. Mycobacterium). In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA (PubMed:11179213, PubMed:12944476, PubMed:14617358, PubMed:20028791, PubMed:21255211). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). RAB7A_HUMAN,P51149
(22) RAB2A, (8q12.1-12.2), Ras-related protein Rab-2A
https://www.ncbi.nlm.nih.gov/gene/5862
Official Full Name RAB2A, member RAS oncogene family. Also known as LHX; RAB2.
Summary: The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in brain (RPKM 44.0), thyroid (RPKM 43.9) and 25 other tissues See more
(23) RHOA (3p21.31), Transforming protein RhoA
https://www.ncbi.nlm.nih.gov/gene/387#gene-expression .
https://www.genecards.org/cgi-bin/carddisp.pl?gene=RHOA&keywords=RHOA
ras homolog family member A. Also known as Aplysia Ras-Related Homolog 12, ARHA; ARH12; RHO12; EDFAOB; RHOH12.
Small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Mainly associated with cytoskeleton organization, in active state binds to a variety of effector proteins to regulate cellular responses such cytoskeletal dynamics, cell migration and cell cycle. Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers (PubMed:8910519, PubMed:9121475). Involved in a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis (PubMed:16236794, PubMed:12900402). Plays an essential role in cleavage furrow formation. Required for the apical junction formation of keratinocyte cell-cell adhesion (PubMed:20974804, PubMed:23940119). Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly (PubMed:19934221). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854). Regulates KCNA2 potassium channel activity by reducing its location at the cell surface in response to CHRM1 activation; promotes KCNA2 endocytosis (PubMed:9635436, PubMed:19403695). May be an activator of PLCE1 (PubMed:16103226). In neurons, involved in the inhibiton of the initial spine growth. Upon activation by CaMKII, modulates dendritic spine structural plasticity by relaying CaMKII transient activation to synapse-specific, long-term signaling (By similarity). RHOA_HUMAN,P61586 (Microbial infection) Serves as a target for the yopT cysteine peptidase from Yersinia pestis, vector of the plague. RHOA_HUMAN,P61586
https://www.ncbi.nlm.nih.gov/gene/10890
Official Full Name RAB10, member RAS oncogene family.
Summary: RAB10 belongs to the RAS (see HRAS; MIM 190020) superfamily of small GTPases. RAB proteins localize to exocytic and endocytic compartments and regulate intracellular vesicle trafficking: https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB10&keywords=RAB10
That Rab is mainly involved in the biosynthetic transport of proteins from the Golgi to the plasma membrane (PubMed:21248164). Regulates, for instance, SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane (By similarity). In parallel, it regulates the transport of TLR4, a toll-like receptor to the plasma membrane and therefore may be important for innate immune response (By similarity). Plays also a specific role in asymmetric protein transport to the plasma membrane (PubMed:16641372). In neurons, it is involved in axonogenesis through regulation of vesicular membrane trafficking toward the axonal plasma membrane (By similarity). In epithelial cells, it regulates transport from the Golgi to the basolateral membrane (PubMed:16641372). May play a role in the basolateral recycling pathway and in phagosome maturation (By similarity). May play a role in endoplasmic reticulum dynamics and morphology controlling tubulation along microtubules and tubules fusion (PubMed:23263280). Together with LRRK2, RAB8A, and RILPL1, it regulates ciliogenesis (PubMed:30398148). When phosphorylated by LRRK2 on Thr-73, binds RILPL1 and inhibits ciliogenesis (PubMed:30398148). RAB10_HUMAN,P61026
(25) RAB1A (2p14), Ras-related protein Rab-1A
https://www.ncbi.nlm.nih.gov/gene/5861
https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAB1A&keywords=RAB1A
RAB1A, member RAS oncogene family, RAB1; YPT1
Diseases associated with RAB1A include Legionellosis. Among its related pathways are Metabolism of proteins and Sertoli-Sertoli Cell Junction Dynamics. RAB1A regulates vesicular protein transport from the endoplasmic reticulum (ER) to the Golgi compartment and on to the cell surface, and plays a role in IL-8 and growth hormone secretion. Regulates the level of CASR present at the cell membrane. Plays a role in cell adhesion and cell migration, via its role in protein trafficking. Plays a role in autophagosome assembly and cellular defense reactions against pathogenic bacteria. Plays a role in microtubule-dependent protein transport by early endosomes and in anterograde melanosome transport. RAB1A_HUMAN,P62820
(26) GNB1, (1p36.33), Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=GNB1&keywords=GNB1
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.
(27) HS2ST1 (1p36.33), Heparan Sulfate 2-O-Sulfotransferase 1.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=HS2ST1&keywords=HS2ST1
Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and galactosylceramide sulfotransferase activity. (Arvelen tämänkeramidijohdannaisen sulfotransferaasin tarvitsevan K1- vitamiinikoentsyymiä ).
Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008].
(28) SCCPDH, (1q44), Saccharopine dehydrogenase-like oxidoreductase.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SCCPDH&keywords=SCCPDH
( Saccharopine = lysine biosynthesis intermediate, lysine is essential aminoacid for human. SCCPDH- deficiency causes hyperlysinemia: https://www.malacards.org/card/hyperlysinemia_type_i ) .
(29) SCARB1, (12q24.31.), Scavenger Receptor Class B Member 1. CD36 Antigen (Collagen Type I Receptor, Thrombospondin, CD36 antiugen.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=SCARB1&keywords=SCARB1.
The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2.
(30) DCAKD, (17q21.31), Dephospho-CoA kinase domain-containing protein.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=DCAKD&keywords=DCAKD
(31) DNAJC19, (3q26.33) Mitochondrial import inner membrane translocase subunit TIM14.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=DNAJC19&keywords=DNAJC19
Probable 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. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity) TIM14_HUMAN,Q96DA6 .
(32) PTGS2, (1q31.1), Prostaglandin G/H synthase, COX2.
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PTGS2&keywords=PTGS2
Converts arachidonate to prostaglandin H2 (PGH2), a committed step in prostanoid synthesis Constitutively expressed in some tissues in physiological conditions, such as the endothelium, kidney and brain, and in pathological conditions, such as in cancer. PTGS2 is responsible for production of inflammatory prostaglandins. Up-regulation of PTGS2 is also associated with increased cell adhesion, phenotypic changes, resistance to apoptosis and tumor angiogenesis. In cancer cells, PTGS2 is a key step in the production of prostaglandin E2 (PGE2), which plays important roles in modulating motility, proliferation and resistance to apoptosis. During neuroinflammation, plays a role in neuronal secretion of specialized preresolving mediators (SPMs), especially 15-R-lipoxin A4, that regulates phagocytic microglia (By similarity).
- ( Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009] Cyclooxygenase (also known as COX, Prostaglandin-endoperoxide synthase, Prostaglandin G/H synthase) is expressed in cells in three isoforms. COX-1 (constitutive) and COX-2 (inducible) isoforms catalyze the rate-limiting step of prostaglandin production.).
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