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This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001558 [regulation of cell growth] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0006511 [ubiquitin-dependent protein catabolic process] GO:0006915 [apoptotic process] GO:0006954 [inflammatory response] GO:0007219 [Notch signaling pathway] GO:0016020 [membrane] GO:0016567 [protein ubiquitination] GO:0032088 [negative regulation of NF-kappaB transcription factor activity] GO:0032480 [negative regulation of type I interferon production] GO:0035519 [protein K29-linked ubiquitination] GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway] GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process] GO:0043021 [ribonucleoprotein complex binding] GO:0043066 [negative regulation of apoptotic process] GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045087 [innate immune response] GO:0045236 [CXCR chemokine receptor binding] GO:0046329 [negative regulation of JNK cascade] GO:0046718 [viral entry into host cell] GO:0050687 [negative regulation of defense response to virus] GO:0051607 [defense response to virus] GO:0061630 [ubiquitin protein ligase activity] GO:0070062 [extracellular exosome] GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway] GO:0070534 [protein K63-linked ubiquitination] GO:0070936 [protein K48-linked ubiquitination] GO:0090085 [regulation of protein deubiquitination]
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001558 [regulation of cell growth] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0006511 [ubiquitin-dependent protein catabolic process] GO:0006915 [apoptotic process] GO:0006954 [inflammatory response] GO:0007219 [Notch signaling pathway] GO:0016020 [membrane] GO:0016567 [protein ubiquitination] GO:0032088 [negative regulation of NF-kappaB transcription factor activity] GO:0032480 [negative regulation of type I interferon production] GO:0035519 [protein K29-linked ubiquitination] GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway] GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process] GO:0043021 [ribonucleoprotein complex binding] GO:0043066 [negative regulation of apoptotic process] GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045087 [innate immune response] GO:0045236 [CXCR chemokine receptor binding] GO:0046329 [negative regulation of JNK cascade] GO:0046718 [viral entry into host cell] GO:0050687 [negative regulation of defense response to virus] GO:0051607 [defense response to virus] GO:0061630 [ubiquitin protein ligase activity] GO:0070062 [extracellular exosome] GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway] GO:0070534 [protein K63-linked ubiquitination] GO:0070936 [protein K48-linked ubiquitination] GO:0090085 [regulation of protein deubiquitination]
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001558 [regulation of cell growth] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0006511 [ubiquitin-dependent protein catabolic process] GO:0006915 [apoptotic process] GO:0006954 [inflammatory response] GO:0007219 [Notch signaling pathway] GO:0016020 [membrane] GO:0016567 [protein ubiquitination] GO:0032088 [negative regulation of NF-kappaB transcription factor activity] GO:0032480 [negative regulation of type I interferon production] GO:0035519 [protein K29-linked ubiquitination] GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway] GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process] GO:0043021 [ribonucleoprotein complex binding] GO:0043066 [negative regulation of apoptotic process] GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045087 [innate immune response] GO:0045236 [CXCR chemokine receptor binding] GO:0046329 [negative regulation of JNK cascade] GO:0046718 [viral entry into host cell] GO:0050687 [negative regulation of defense response to virus] GO:0051607 [defense response to virus] GO:0061630 [ubiquitin protein ligase activity] GO:0070062 [extracellular exosome] GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway] GO:0070534 [protein K63-linked ubiquitination] GO:0070936 [protein K48-linked ubiquitination] GO:0090085 [regulation of protein deubiquitination]
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001558 [regulation of cell growth] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0006511 [ubiquitin-dependent protein catabolic process] GO:0006915 [apoptotic process] GO:0006954 [inflammatory response] GO:0007219 [Notch signaling pathway] GO:0016020 [membrane] GO:0016567 [protein ubiquitination] GO:0032088 [negative regulation of NF-kappaB transcription factor activity] GO:0032480 [negative regulation of type I interferon production] GO:0035519 [protein K29-linked ubiquitination] GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway] GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process] GO:0043021 [ribonucleoprotein complex binding] GO:0043066 [negative regulation of apoptotic process] GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045087 [innate immune response] GO:0045236 [CXCR chemokine receptor binding] GO:0046329 [negative regulation of JNK cascade] GO:0046718 [viral entry into host cell] GO:0050687 [negative regulation of defense response to virus] GO:0051607 [defense response to virus] GO:0061630 [ubiquitin protein ligase activity] GO:0070062 [extracellular exosome] GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway] GO:0070534 [protein K63-linked ubiquitination] GO:0070936 [protein K48-linked ubiquitination] GO:0090085 [regulation of protein deubiquitination]
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Disease related genes Protein evidence (Ezkurdia et al 2014)
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GO:0000209 [protein polyubiquitination] GO:0001558 [regulation of cell growth] GO:0002669 [positive regulation of T cell anergy] GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0005938 [cell cortex] GO:0006511 [ubiquitin-dependent protein catabolic process] GO:0006915 [apoptotic process] GO:0006954 [inflammatory response] GO:0007219 [Notch signaling pathway] GO:0016020 [membrane] GO:0016567 [protein ubiquitination] GO:0016874 [ligase activity] GO:0031410 [cytoplasmic vesicle] GO:0032088 [negative regulation of NF-kappaB transcription factor activity] GO:0032480 [negative regulation of type I interferon production] GO:0035519 [protein K29-linked ubiquitination] GO:0035872 [nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway] GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process] GO:0043021 [ribonucleoprotein complex binding] GO:0043066 [negative regulation of apoptotic process] GO:0043161 [proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045087 [innate immune response] GO:0045236 [CXCR chemokine receptor binding] GO:0045732 [positive regulation of protein catabolic process] GO:0046329 [negative regulation of JNK cascade] GO:0046642 [negative regulation of alpha-beta T cell proliferation] GO:0046718 [viral entry into host cell] GO:0050687 [negative regulation of defense response to virus] GO:0051607 [defense response to virus] GO:0061630 [ubiquitin protein ligase activity] GO:0070062 [extracellular exosome] GO:0070423 [nucleotide-binding oligomerization domain containing signaling pathway] GO:0070534 [protein K63-linked ubiquitination] GO:0070936 [protein K48-linked ubiquitination] GO:0090085 [regulation of protein deubiquitination]