• Gene id: 4671

Gene Summary

• Gene Symbol: NAIP   Gene   UCSC   Ensembl
• Aliases: BIRC1, NLRB1, psiNAIP
• Gene name: NLR family apoptosis inhibitory protein
• Alternate names: baculoviral IAP repeat-containing protein 1, neuronal apoptosis inhibitory protein, nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1, psi neuronal apoptosis inhibitory protein,
• Gene location: 5q13.2 (71025338: 70968165)     Exons: 19     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 600355

Protein Summary

• Protein general information: Q13075  
  • Name: Baculoviral IAP repeat containing protein 1 (Neuronal apoptosis inhibitory protein)
  • Length: 1403  
  • Mass: 159582
  • Tissue specificity: Expressed in motor neurons, but not in sensory neurons. Found in liver and placenta, and to a lesser extent in spinal cord.
• Sequence:

  MATQQKASDERISQFDHNLLPELSALLGLDAVQLAKELEEEEQKERAKMQKGYNSQMRSEAKRLKTFVTYEPYSS
  WIPQEMAAAGFYFTGVKSGIQCFCCSLILFGAGLTRLPIEDHKRFHPDCGFLLNKDVGNIAKYDIRVKNLKSRLR
  GGKMRYQEEEARLASFRNWPFYVQGISPCVLSEAGFVFTGKQDTVQCFSCGGCLGNWEEGDDPWKEHAKWFPKCE
  FLRSKKSSEEITQYIQSYKGFVDITGEHFVNSWVQRELPMASAYCNDSIFAYEELRLDSFKDWPRESAVGVAALA
  KAGLFYTGIKDIVQCFSCGGCLEKWQEGDDPLDDHTRCFPNCPFLQNMKSSAEVTPDLQSRGELCELLETTSESN
  LEDSIAVGPIVPEMAQGEAQWFQEAKNLNEQLRAAYTSASFRHMSLLDISSDLATDHLLGCDLSIASKHISKPVQ
  EPLVLPEVFGNLNSVMCVEGEAGSGKTVLLKKIAFLWASGCCPLLNRFQLVFYLSLSSTRPDEGLASIICDQLLE
  KEGSVTEMCVRNIIQQLKNQVLFLLDDYKEICSIPQVIGKLIQKNHLSRTCLLIAVRTNRARDIRRYLETILEIK
  AFPFYNTVCILRKLFSHNMTRLRKFMVYFGKNQSLQKIQKTPLFVAAICAHWFQYPFDPSFDDVAVFKSYMERLS
  LRNKATAEILKATVSSCGELALKGFFSCCFEFNDDDLAEAGVDEDEDLTMCLMSKFTAQRLRPFYRFLSPAFQEF
  LAGMRLIELLDSDRQEHQDLGLYHLKQINSPMMTVSAYNNFLNYVSSLPSTKAGPKIVSHLLHLVDNKESLENIS
  ENDDYLKHQPEISLQMQLLRGLWQICPQAYFSMVSEHLLVLALKTAYQSNTVAACSPFVLQFLQGRTLTLGALNL
  QYFFDHPESLSLLRSIHFPIRGNKTSPRAHFSVLETCFDKSQVPTIDQDYASAFEPMNEWERNLAEKEDNVKSYM
  DMQRRASPDLSTGYWKLSPKQYKIPCLEVDVNDIDVVGQDMLEILMTVFSASQRIELHLNHSRGFIESIRPALEL
  SKASVTKCSISKLELSAAEQELLLTLPSLESLEVSGTIQSQDQIFPNLDKFLCLKELSVDLEGNINVFSVIPEEF
  PNFHHMEKLLIQISAEYDPSKLVKLIQNSPNLHVFHLKCNFFSDFGSLMTMLVSCKKLTEIKFSDSFFQAVPFVA
  SLPNFISLKILNLEGQQFPDEETSEKFAYILGSLSNLEELILPTGDGIYRVAKLIIQQCQQLHCLRVLSFFKTLN
  DDSVVEIAKVAISGGFQKLENLKLSINHKITEEGYRNFFQALDNMPNLQELDISRHFTECIKAQATTVKSLSQCV
  LRLPRLIRLNMLSWLLDADDIALLNVMKERHPQSKYLTILQKWILPFSPIIQK

• Structural information:
  • Protein Domains: (464..75-)
    (/note="NACHT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00136"-)
  • Interpro: IPR003593  IPR001370  IPR032675  IPR007111  IPR028789   IPR040535  IPR041075  IPR027417  
  • Prosite: PS01282 PS50143 PS50837
  • CDD: cd00022
  • PDB: 2VM5
  • PDBsum: 2VM5
  • DIP: 59150
  • STRING: ENSP00000428657
• Other Databases: GeneCards:  NAIP  Malacards:  NAIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0072557	IPAF inflammasome complex	IBA	cellular component
GO:0016045	detection of bacterium	IBA	biological process
GO:0070269	pyroptosis	IBA	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA	biological process
GO:0043027	cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IBA	molecular function
GO:0042742	defense response to bacterium	IBA	biological process
GO:0006954	inflammatory response	IBA	biological process
GO:0005524	ATP binding	IBA	molecular function
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0043524	negative regulation of neuron apoptotic process	TAS	biological process
GO:0005524	ATP binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043027	cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IEA	molecular function
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0004869	cysteine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process
GO:0043066	negative regulation of apoptotic process	ISS	biological process
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa04621	NOD-like receptor signaling pathway
hsa05134	Legionellosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq