| UniProt Protein Function: | BIRC1: Anti-apoptotic protein which acts by inhibiting the activities of CASP3, CASP7 and CASP9. Can inhibit the autocleavage of pro-CASP9 and cleavage of pro-CASP3 by CASP9. Capable of inhibiting CASP9 autoproteolysis at 'Asp-315' and decreasing the rate of auto proteolysis at 'Asp-330'. Acts as a mediator of neuronal survival in pathological conditions. Prevents motor- neuron apoptosis induced by a variety of signals. Possible role in the prevention of spinal muscular atrophy that seems to be caused by inappropriate persistence of motor-neuron apoptosis: mutated or deleted forms of NAIP have been found in individuals with severe spinal muscular atrophy. |
| UniProt Protein Details: | Chromosomal Location of Human Ortholog: 5q13.2 Cellular Component: basolateral plasma membrane; spindle microtubule; cytoplasm; nucleus Molecular Function:protein binding; metal ion binding; caspase inhibitor activity; ubiquitin-protein ligase activity; ATP binding Biological Process: nervous system development; regulation of signal transduction; innate immune response; protein ubiquitination; negative regulation of caspase activity; negative regulation of neuron apoptosis; inflammatory response; negative regulation of apoptosis |
| NCBI 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] |
| UniProt Code: | Q13075 |
| NCBI GenInfo Identifier: | 219520065 |
| NCBI Gene ID: | 4671 |
| NCBI Accession: | AAI43762.1 |
| UniProt Secondary Accession: | Q13075,O75857, Q13730, Q59GI6, Q8TDZ4, Q99796, B9EG72 E9PHD1, |
| UniProt Related Accession: | Q13075 |
| Molecular Weight: | 159,582 Da |
| NCBI Full Name: | NAIP protein |
| NCBI Synonym Full Names: | NLR family, apoptosis inhibitory protein |
| NCBI Official Symbol: | NAIP |
| NCBI Official Synonym Symbols: | BIRC1; NLRB1; psiNAIP |
| NCBI Protein Information: | baculoviral IAP repeat-containing protein 1; neuronal apoptosis inhibitory protein; psi neuronal apoptosis inhibitory protein; nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1 |
| UniProt Protein Name: | Baculoviral IAP repeat-containing protein 1 |
| UniProt Synonym Protein Names: | Neuronal apoptosis inhibitory protein |
| Protein Family: | Putative niacin/nicotinamide transporter |
| UniProt Gene Name: | NAIP |
| UniProt Entry Name: | BIRC1_HUMAN |
