NAIP (gene)

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NLR family, apoptosis inhibitory protein
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols NAIP ; BIRC1; NLRB1; psiNAIP
External IDs OMIM600355 MGI1298223 HomoloGene136092 GeneCards: NAIP Gene
Orthologs
Species Human Mouse
Entrez 4671 17948
Ensembl ENSG00000249437 ENSMUSG00000078945
UniProt Q13075 Q9QUK4
RefSeq (mRNA) NM_004536 NM_001126182
RefSeq (protein) NP_004527 NP_001119654
Location (UCSC) Chr 5:
70.26 – 70.32 Mb
Chr 13:
100.14 – 100.2 Mb
PubMed search [1] [2]

Baculoviral IAP repeat-containing protein 1 is a protein that in humans is encoded by the NAIP gene.[1][2]

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.[2]

References[edit]

  1. ^ Roy N, Mahadevan MS, McLean M, Shutler G, Yaraghi Z, Farahani R, Baird S, Besner-Johnston A, Lefebvre C, Kang X, et al. (Feb 1995). "The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy". Cell 80 (1): 167–78. doi:10.1016/0092-8674(95)90461-1. PMID 7813013. 
  2. ^ a b "Entrez Gene: NAIP NLR family, apoptosis inhibitory protein". 

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