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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Enzymes FDA approved drug targets Human disease related genes Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
X
Cytoband
q25
Chromosome location (bp)
123859712 - 123913972
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, copper homeostasis, mitogenic kinase signaling, cell proliferation, as well as cell invasion and metastasis 1,2,3,4,5,6,7,8,9,10,11. Acts as a direct caspase inhibitor 12,13,14. Directly bind to the active site pocket of CASP3 and CASP7 and obstructs substrate entry 15,16,17,18. Inactivates CASP9 by keeping it in a monomeric, inactive state 19. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and the target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, RIPK2, MAP3K2/MEKK2, DIABLO/SMAC, AIFM1, CCS, PTEN and BIRC5/survivin 20,21,22,23,24,25,26,27. Acts as an important regulator of innate immunity by mediating 'Lys-63'-linked polyubiquitination of RIPK2 downstream of NOD1 and NOD2, thereby transforming RIPK2 into a scaffolding protein for downstream effectors, ultimately leading to activation of the NF-kappa-B and MAP kinases signaling 28,29,30,31. 'Lys-63'-linked polyubiquitination of RIPK2 also promotes recruitment of the LUBAC complex to RIPK2 32,33. Regulates the BMP signaling pathway and the SMAD and MAP3K7/TAK1 dependent pathways leading to NF-kappa-B and JNK activation 34. Ubiquitination of CCS leads to enhancement of its chaperone activity toward its physiologic target, SOD1, rather than proteasomal degradation 35. Ubiquitination of MAP3K2/MEKK2 and AIFM1 does not lead to proteasomal degradation 36,37. Plays a role in copper homeostasis by ubiquitinating COMMD1 and promoting its proteasomal degradation 38. Can also function as E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway, targeting effector caspases for neddylation and inactivation 39. Ubiquitinates and therefore mediates the proteasomal degradation of BCL2 in response to apoptosis 40. Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner 41. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8 42. Acts as a positive regulator of Wnt signaling and ubiquitinates TLE1, TLE2, TLE3, TLE4 and AES 43. Ubiquitination of TLE3 results in inhibition of its interaction with TCF7L2/TCF4 thereby allowing efficient recruitment and binding of the transcriptional coactivator beta-catenin to TCF7L2/TCF4 that is required to initiate a Wnt-specific transcriptional program 44....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0004842[ubiquitin-protein transferase activity] GO:0004869[cysteine-type endopeptidase inhibitor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005876[spindle microtubule] GO:0006915[apoptotic process] GO:0006974[cellular response to DNA damage stimulus] GO:0010466[negative regulation of peptidase activity] GO:0010804[negative regulation of tumor necrosis factor-mediated signaling pathway] GO:0016055[Wnt signaling pathway] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0030414[peptidase inhibitor activity] GO:0030510[regulation of BMP signaling pathway] GO:0031398[positive regulation of protein ubiquitination] GO:0042127[regulation of cell population proliferation] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043027[cysteine-type endopeptidase inhibitor activity involved in apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0043154[negative regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045088[regulation of innate immune response] GO:0046330[positive regulation of JNK cascade] GO:0046872[metal ion binding] GO:0050727[regulation of inflammatory response] GO:0051726[regulation of cell cycle] GO:0052548[regulation of endopeptidase activity] GO:0055070[copper ion homeostasis] GO:0061630[ubiquitin protein ligase activity] GO:0070424[regulation of nucleotide-binding oligomerization domain containing signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0097340[inhibition of cysteine-type endopeptidase activity] GO:0120283[protein serine/threonine kinase binding] GO:1902530[positive regulation of protein linear polyubiquitination]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004842[ubiquitin-protein transferase activity] GO:0004869[cysteine-type endopeptidase inhibitor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005876[spindle microtubule] GO:0006915[apoptotic process] GO:0006974[cellular response to DNA damage stimulus] GO:0010466[negative regulation of peptidase activity] GO:0010804[negative regulation of tumor necrosis factor-mediated signaling pathway] GO:0016055[Wnt signaling pathway] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0030414[peptidase inhibitor activity] GO:0030510[regulation of BMP signaling pathway] GO:0031398[positive regulation of protein ubiquitination] GO:0042127[regulation of cell population proliferation] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043027[cysteine-type endopeptidase inhibitor activity involved in apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0043154[negative regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045088[regulation of innate immune response] GO:0046330[positive regulation of JNK cascade] GO:0046872[metal ion binding] GO:0050727[regulation of inflammatory response] GO:0051402[neuron apoptotic process] GO:0051726[regulation of cell cycle] GO:0052548[regulation of endopeptidase activity] GO:0055070[copper ion homeostasis] GO:0060785[regulation of apoptosis involved in tissue homeostasis] GO:0061630[ubiquitin protein ligase activity] GO:0070424[regulation of nucleotide-binding oligomerization domain containing signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0097340[inhibition of cysteine-type endopeptidase activity] GO:0120283[protein serine/threonine kinase binding] GO:1902530[positive regulation of protein linear polyubiquitination] GO:1990001[inhibition of cysteine-type endopeptidase activity involved in apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
Show all
GO:0042981[regulation of apoptotic process] GO:0052548[regulation of endopeptidase activity]
The Human Protein Atlas project is funded
