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Parkinson's Disease, the second most common neurodegenerative disease after Alzheimer's Disease, is characterized by the loss of dopaminergic neurons and the presence of Lewy bodies (comprised of alpha synuclein and parkin inclusions). Autosomal Recessive Juvenile Parkinsonism (AR-JP) is a recently described form of Parkinson's Disease that has been linked to a gene that codes for parkin. Parkin, a 52 kDa protein, has a suggested role in the ubiquitin/proteasome pathway for protein degradation. The amino terminus bears sequence homology to ubiquitin while functionally it acts as a RING type ubiquitin protein ligase (E3) that coordinates the transfer of ubiquitin to substrate proteins, thus targeting them for degradation by the proteasome.

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Parkinson's Disease, the second most common neurodegenerative disease after Alzheimer's Disease, is characterized by the loss of dopaminergic neurons and the presence of Lewy bodies (comprised of alpha synuclein and parkin inclusions). Autosomal Recessive Juvenile Parkinsonism (AR-JP) is a recently described form of Parkinson's Disease that has been linked to a gene that codes for parkin. Parkin, a 52 kDa protein, has a suggested role in the ubiquitin/proteasome pathway for protein degradation. The amino terminus bears sequence homology to ubiquitin while functionally it acts as a RING type ubiquitin protein ligase (E3) that coordinates the transfer of ubiquitin to substrate proteins, thus targeting them for degradation by the proteasome.

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Ubiquitin is an abundant, highly conserved protein found in all eukaryotic cells either free or covalently attached to cellular proteins. Ubiquitination is an important mechanism through which three classes of enzymes act in concert to target short-lived or abnormal proteins for destruction. The three classes of enzymes involved in ubiquitination are the ubiquitin-activating enzymes (E1s), the ubiquitin-conjugating enzymes (E2s) and the ubiquitin-protein ligases (E3s). As an E2 class enzyme, UBE2W (Ubiquitin-conjugating enzyme E2 W), also known as Ubiquitin carrier protein W, is a 151 amino acid that catalyzes the conjugation of ubiquitin to proteins that are meant for lysosomal degradation. Functioning as a homodimer, UBE2W is widely expressed, with highest levels in testis. There are two isoforms of UBE2W that are produced as a result of alternative splicing events.

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Parkinson's Disease, the second most common neurodegenerative disease after Alzheimer's Disease, is characterized by the loss of dopaminergic neurons and the presence of Lewy bodies (comprised of alpha synuclein and parkin inclusions). Autosomal Recessive Juvenile Parkinsonism (AR-JP) is a recently described form of Parkinson's Disease that has been linked to a gene that codes for parkin. Parkin, a 52 kDa protein, has a suggested role in the ubiquitin/proteasome pathway for protein degradation. The amino terminus bears sequence homology to ubiquitin while functionally it acts as a RING type ubiquitin protein ligase (E3) that coordinates the transfer of ubiquitin to substrate proteins, thus targeting them for degradation by the proteasome.

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Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX1, but not RBX2, suggests that the RBX1-UBE2M complex neddylates specific target proteins, such as CUL1, CUL2, CUL3 and CUL4. Involved in cell proliferation.

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UGP2 (UDP glucose pyrophosphorylase 2) is an important intermediary in cellular metabolic pathways. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP glucose and MgPPi.

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Has no ubiquitin ligase activity on its own. The UBE2V1-UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through Lys-63. This type of poly-ubiquitination activates IKK and does not seem to involve protein degradation by the proteasome. Plays a role in the activation of NF-kappa-B mediated by IL1B, TNF, TRAF6 and TRAF2. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage.

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SRRM3

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Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2.

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Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex involved in circadian clock function. The SCF(FBXL3) complex acts by mediating ubiquitination and subsequent degradation of CRY1 and CRY2. Recruiter of target protein that may recognize and bind to some phosphorylated proteins and promotes their ubiquitination and degradation.

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GLB1L3 is a 653 amino acid protein belonging to the glycosyl hydrolase 35 family. GLB1L3 exists as three alternatively spliced isoforms and is encoded by a gene that maps to human chromosome 11q25. With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11.

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This gene is located within a region of a segmental duplication on chromosome 16p. The product of this gene belongs to the eukaryotic subfamily of the BolA-like proteins. This gene encodes the BolA-like protein 2. The BolA-like proteins are widely conserved from prokaryotes to eukaryotes, and these proteins seem to be involved in cell proliferation or cell-cycle regulation. This duplicated region contains a complete copy of the short splice variant of the BOLA2 gene and a partial copy of the long splice variant of the BOLA2 gene.

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GTPase-activating protein (GAP) promoting GTP hydrolysis on RHOA, CDC42 and RAC1 small GTPases. May be involved in the differentiation of neuronal cells during the formation of neurite extensions. Involved in NMDA receptor activity-dependent actin reorganization in dendritic spines. May mediate cross-talks between Ras- and Rho-regulated signaling pathways in cell growth regulation. Isoform 2 has higher GAP activity (By similarity).

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DENND2C is a 928 amino acid protein that contains a dDENN domain, a DENN domain, and a uDENN domain and exists as three isoforms as a result of alternative splicing. The DENND2C protein is thought to target to actin filaments and control Rab9-dependent trafficking of mannose-6-phosphate receptor to lysosomes. The gene encoding DENND2C maps to human chromosome 1, the largest human chromosome which spans about 260 million base pairs and makes up 8% of the human genome. Other notable genes located on chromosome 1 include LMNA, which is associated with the rare aging disease Hutchinson-Gilford progeria, and the MUTYH gene, which is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinson's, Gaucher disease and Usher syndrome.

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May play an important role in the regulation of lymphoma cell growth. Interacts with a 16-kDa Leu-13 protein to form a complex possibly involved in signal transduction. May act as the viral receptor for HCV.

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The retinal pigment epithelium (RPE) is a monolayer simple epithelium in proximity to the outer surface of the retinal photoreceptor cells. Retinal pigment epithelium-specific protein (RPE65) is a 65 kDa protein belonging to the carotene dioxygenase family. This protein is important in 11-cis retinal production as well as in visual pigment regeneration. RPE65 is attached to the membrane by a lipid anchor when palmitoylated (membrane form) and soluble when unpalmitoylated. The soluble form of the protein binds vitamin A. Defects in RPE65 causes autosomal dominant retinitis pigmentosa and/or Leber congenital amaurosis type 2.

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This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). [provided by RefSeq, Jul 2008].

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STK40 may be a negative regulator of NF-kappa-B and p53-mediated gene transcription. There are four named isoforms.

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Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-dihydrosphingosine, D-erythro-sphingosine and L-threo-dihydrosphingosine. Binds phosphoinositides.

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This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants.

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Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription.

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GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting it to the putatively inactive GDP-bound state.Tissue specificity: Expressed in fetal as well as in adult tissues. Expressed abundantly in the lymphoid tissues such as thymus, spleen and peripheral blood lymphocytes and also shows a significant expression in the spinal cord.

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This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants.

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Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription.

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May participate in adhesion reactions between T lymphocytes and accessory cells by homophilic interaction.

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Acts both as NAD-dependent protein ADP-ribosyl transferase and NAD-dependent protein deacetylase. Catalyzes the transfer of ADP-ribosyl groups onto target proteins, including mitochondrial GLUD1, inhibiting GLUD1 enzyme activity. Acts as a negative regulator of mitochondrial glutamine metabolism by mediating mono ADP-ribosylation of GLUD1: expressed in response to DNA damage and negatively regulates anaplerosis by inhibiting GLUD1, leading to block metabolism of glutamine into tricarboxylic acid cycle and promoting cell cycle arrest. In response to mTORC1 signal, SIRT4 expression is repressed, promoting anaplerosis and cell proliferation. Acts as a tumor suppressor. Also acts as a NAD-dependent protein deacetylase: mediates deacetylation of 'Lys-471' of MLYCD, inhibiting its activity, thereby acting as a regulator of lipid homeostasis. Down-regulates insulin secretion.

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NAD-dependent protein deacetylase. Activates or deactivates mitochondrial target proteins by deacetylating key lysine residues. Known targets include ACSS1, IDH, GDH, SOD2, PDHA1, LCAD, SDHA and the ATP synthase subunit ATP5O. Contributes to the regulation of the cellular energy metabolism. Important for regulating tissue-specific ATP levels.

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Acts as a transcriptional regulator. Acts as a negative regulator of receptor-dependent signaling pathways. Specifically inhibits transactivation of the nuclear receptor with whom it interacts. Inhibits transcriptional activity of NEUROD1 on E-box-containing promoter by interfering with the coactivation function of the p300/CBP-mediated trancription complex for NEUROD1.

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Acyl-coenzyme A synthetases (ACSs) are a large family of related enzymes known to catalyze the fundamental initial reaction in fatty acid metabolism. The ACS family is roughly characterized based on fatty acid chain length preference amongst different members. The nomenclature in the ACS family reflects this relationship and includes short-chain ACS (ACSS), medium-chain ACS (ACSM), long-chain ACS (ACSL) and very long-chain ACS (ACSVL). ACSVL family members are capable of activating both long (LCFAs) and very long-chain fatty acids (VLCFAs). There are six members of the human ACSVL subfamily, which have been described as solute carrier family 27A (SLC27A) gene products. They represent a group of evolutionarily conserved fatty acid transport proteins (FATPs) recognized for their role in facilitating translocation of long-chain fatty acids across the plasma membrane. The family nomenclature has recently been unified with their respective acyl-CoA synthetase family designations: ACSVL1 (FATP2), ACSVL2 (FATP6), ACSVL3 (FATP3), ACSVL4 (FATP1), ACSVL5 (FATP4) and ACSVL6 (FATP5). ACSVLs have unique expression patterns and are found in major organs of fatty acid metabolism, such as adipose tissue, liver, heart and kidney. ACSVL2 is a 619 amino acid multi-pass membrane protein. Encoded by a gene that maps to human chromosome 5q23.3, ACSVL2 may function as the predominant fatty acid protein transporter in heart.

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Acyl-coenzyme A synthetases (ACSs) are a large family of related enzymes known to catalyze the fundamental initial reaction in fatty acid metabolism. The ACS family is roughly characterized based on fatty acid chain length preference amongst different members. The nomenclature in the ACS family reflects this relationship and includes short-chain ACS (ACSS), medium-chain ACS (ACSM), long-chain ACS (ACSL) and very long-chain ACS (ACSVL). ACSVL family members are capable of activating both long (LCFAs) and very long-chain fatty acids (VLCFAs). There are six members of the human ACSVL subfamily, which have been described as solute carrier family 27A (SLC27A) gene products. They represent a group of evolutionarily conserved fatty acid transport proteins (FATPs) recognized for their role in facilitating translocation of long-chain fatty acids across the plasma membrane. The family nomenclature has recently been unified with their respective acyl-CoA synthetase family designations: ACSVL1 (FATP2), ACSVL2 (FATP6), ACSVL3 (FATP3), ACSVL4 (FATP1), ACSVL5 (FATP4) and ACSVL6 (FATP5). ACSVLs have unique expression patterns and are found in major organs of fatty acid metabolism, such as adipose tissue, liver, heart and kidney. ACSVL2 is a 619 amino acid multi-pass membrane protein. Encoded by a gene that maps to human chromosome 5q23.3, ACSVL2 may function as the predominant fatty acid protein transporter in heart.