akirin 2; Required for the innate immune response. Downstream effector of the Toll-like receptor (TLR), TNF and IL-1 beta signaling pathways leading to the production of IL-6. Forms a complex with YWHAB that acts to repress transcription of DUSP1 (By similarity)

ubiquitin C

CD4 molecule; Accessory protein for MHC class-II antigen/T-cell receptor interaction. May regulate T-cell activation. Induces the aggregation of lipid rafts

spastic paraplegia 21 (autosomal recessive, Mast syndrome); May play a role as a negative regulatory factor in CD4- dependent T-cell activation

CTP synthase 2; Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides

spastic paraplegia 21 (autosomal recessive, Mast syndrome); May play a role as a negative regulatory factor in CD4- dependent T-cell activation

CTP synthase 2; Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides

ubiquitin C

cutC copper transporter homolog (E. coli); May play a role in copper homeostasis. Can bind one Cu(1+) per subunit

ubiquitin C

DEAH (Asp-Glu-Ala-His) box polypeptide 40; Probable ATP-dependent RNA helicase (By similarity)

spastic paraplegia 21 (autosomal recessive, Mast syndrome); May play a role as a negative regulatory factor in CD4- dependent T-cell activation

DEAH (Asp-Glu-Ala-His) box polypeptide 40; Probable ATP-dependent RNA helicase (By similarity)

ubiquitin C

deltex homolog 2 (Drosophila); Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context. Mediates the antineural activity of Notch, possibly by inhibiting the transcriptional activation mediated by MATCH1. Functions as an ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity

ubiquitin C

deltex 3-like (Drosophila); Ubiquitin ligase that mediates monoubiquitination of ’Lys-91’ of histone H4 (H4K91ub1), in response to DNA damage. Protects cells exposed to DNA-damaging agents. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post- translational modifications such as H4 ’Lys-20’ methylation (H4K20me). Involved in the recruitment of 53BP1/TP53BP1 to sites of DNA damage by mediating H4K91ub1 formation. In concert with PARP9, plays a role in PARP1-dependent DNA damage repair. PARP1- dependen [...]

spastic paraplegia 21 (autosomal recessive, Mast syndrome); May play a role as a negative regulatory factor in CD4- dependent T-cell activation

deltex 3-like (Drosophila); Ubiquitin ligase that mediates monoubiquitination of ’Lys-91’ of histone H4 (H4K91ub1), in response to DNA damage. Protects cells exposed to DNA-damaging agents. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post- translational modifications such as H4 ’Lys-20’ methylation (H4K20me). Involved in the recruitment of 53BP1/TP53BP1 to sites of DNA damage by mediating H4K91ub1 formation. In concert with PARP9, plays a role in PARP1-dependent DNA damage repair. PARP1- dependen [...]

tripartite motif containing 9; E3 ubiquitin-protein ligase which ubiquitinates itself in cooperation with an E2 enzyme UBE2D2/UBC4 and serves as a targeting signal for proteasomal degradation. May play a role in regulation of neuronal functions and may also participate in the formation or breakdown of abnormal inclusions in neurodegenerative disorders. May act as a regulator of synaptic vesicle exocytosis by controlling the availability of SNAP25 for the SNARE complex formation

deltex 3-like (Drosophila); Ubiquitin ligase that mediates monoubiquitination of ’Lys-91’ of histone H4 (H4K91ub1), in response to DNA damage. Protects cells exposed to DNA-damaging agents. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post- translational modifications such as H4 ’Lys-20’ methylation (H4K20me). Involved in the recruitment of 53BP1/TP53BP1 to sites of DNA damage by mediating H4K91ub1 formation. In concert with PARP9, plays a role in PARP1-dependent DNA damage repair. PARP1- dependen [...]

ubiquitin C

family with sequence similarity 114, member A1; May play a role in neuronal cell development (By similarity)

spastic paraplegia 21 (autosomal recessive, Mast syndrome); May play a role as a negative regulatory factor in CD4- dependent T-cell activation

family with sequence similarity 114, member A1; May play a role in neuronal cell development (By similarity)

ubiquitin C

golgi-associated, gamma adaptin ear containing, ARF binding protein 2; Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF- dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif

ubiquitin C

glycogen synthase kinase 3 alpha; Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1. Requires primed phosphorylation of the majority of its substrates. Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. Regulates glycogen metabolism in liver, but not in muscle. M [...]

spastic paraplegia 21 (autosomal recessive, Mast syndrome); May play a role as a negative regulatory factor in CD4- dependent T-cell activation

glycogen synthase kinase 3 alpha; Constitutively active protein kinase that acts as a negative regulator in the hormonal control of glucose homeostasis, Wnt signaling and regulation of transcription factors and microtubules, by phosphorylating and inactivating glycogen synthase (GYS1 or GYS2), CTNNB1/beta-catenin, APC and AXIN1. Requires primed phosphorylation of the majority of its substrates. Contributes to insulin regulation of glycogen synthesis by phosphorylating and inhibiting GYS1 activity and hence glycogen synthesis. Regulates glycogen metabolism in liver, but not in muscle. M [...]

ubiquitin C

3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble); This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase

spastic paraplegia 21 (autosomal recessive, Mast syndrome); May play a role as a negative regulatory factor in CD4- dependent T-cell activation

3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble); This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase

ubiquitin C

myotubularin related protein 8; Phosphatase that acts on lipids with a phosphoinositol headgroup (Probable)

myotubularin related protein 9; Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential)

myotubularin related protein 9; Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential)

myotubularin related protein 8; Phosphatase that acts on lipids with a phosphoinositol headgroup (Probable)