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NLR family, apoptosis inhibitory protein (HGNC Symbol)
Entrez gene summary
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Q13075 [Direct mapping] Baculoviral IAP repeat-containing protein 1
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THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers Protein evidence (Ezkurdia et al 2014)
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GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006954 [inflammatory response] GO:0007399 [nervous system development] GO:0009966 [regulation of signal transduction] GO:0016323 [basolateral plasma membrane] GO:0016567 [protein ubiquitination] GO:0043005 [neuron projection] GO:0043025 [neuronal cell body] 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:0043200 [response to amino acid] GO:0043204 [perikaryon] GO:0043524 [negative regulation of neuron apoptotic process] GO:0045087 [innate immune response] GO:0046872 [metal ion binding] GO:0048678 [response to axon injury] GO:0070062 [extracellular exosome] GO:1990001 [inhibition of cysteine-type endopeptidase activity involved in apoptotic process]
Q13075 [Direct mapping] Baculoviral IAP repeat-containing protein 1
Show all
THUMBUP predicted membrane proteins Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842 [ubiquitin-protein transferase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006954 [inflammatory response] GO:0007399 [nervous system development] GO:0009966 [regulation of signal transduction] GO:0016323 [basolateral plasma membrane] GO:0016567 [protein ubiquitination] 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:0043524 [negative regulation of neuron apoptotic process] GO:0045087 [innate immune response] GO:0046872 [metal ion binding] GO:0070062 [extracellular exosome] GO:1990001 [inhibition of cysteine-type endopeptidase activity involved in apoptotic process]