NAIP (gene)

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NAIP
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesNAIP, BIRC1, NLRB1, psiNLR family, apoptosis inhibitory protein, NLR family apoptosis inhibitory protein
External IDsOMIM: 600355 MGI: 1298226 HomoloGene: 136092 GeneCards: NAIP
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004536
NM_022892
NM_001346870

NM_001126182
NM_010872

RefSeq (protein)

NP_001333799
NP_004527
NP_075043

NP_001119654
NP_035002

Location (UCSC)Chr 5: 70.97 – 71.03 MbChr 13: 100.28 – 100.34 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Baculoviral IAP repeat-containing protein 1 is a protein that in humans is encoded by the NAIP gene.[5][6]

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.[6]

References

  1. ^ a b c ENSG00000276068, ENSG00000249437 GRCh38: Ensembl release 89: ENSG00000278613, ENSG00000276068, ENSG00000249437 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000078945 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 15141092.
  6. ^ a b "Entrez Gene: NAIP NLR family, apoptosis inhibitory protein".

Further reading

External links