Gene Gene information from NCBI Gene database.
Entrez ID 4671
Gene name NLR family apoptosis inhibitory protein
Gene symbol NAIP
Synonyms (NCBI Gene)
BIRC1NLRB1psiNAIP
Chromosome 5
Chromosome location 5q13.2
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
miRNA miRNA information provided by mirtarbase database.
241
miRTarBase ID miRNA Experiments Reference
MIRT005295 hsa-miR-221-3p Western blot 18759060
MIRT731786 hsa-miR-145-5p Luciferase reporter assayqRT-PCRWestern blot 26459459
MIRT731786 hsa-miR-145-5p Luciferase reporter assayqRT-PCRWestern blot 26459459
MIRT731787 hsa-miR-1-3p Luciferase reporter assayqRT-PCRWestern blot 26459459
MIRT731787 hsa-miR-1-3p Luciferase reporter assayqRT-PCRWestern blot 26459459
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TEAD1 Unknown 23994529
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002221 Process Pattern recognition receptor signaling pathway NAS 21918512
GO:0002376 Process Immune system process IEA
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 11865055, 21371431
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600355 7634 ENSG00000249437
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13075
Protein name Baculoviral IAP repeat-containing protein 1 (Neuronal apoptosis inhibitory protein)
Protein function 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 r
PDB 2VM5 , 8FVU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00653 BIR 63 128 Inhibitor of Apoptosis domain Domain
PF00653 BIR 162 228 Inhibitor of Apoptosis domain Domain
PF00653 BIR 281 346 Inhibitor of Apoptosis domain Domain
PF05729 NACHT 464 618 NACHT domain Domain
PF17779 NOD2_WH 687 742 NOD2 winged helix domain Domain
PF17889 NLRC4_HD 766 872 NLRC4 helical domain Domain
Tissue specificity 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
MATQQKASDERISQFDHNLLPELSALLGLDAVQLAKELEEEEQKERAKMQKGYNSQMRSE
AKRLKTFVTYEPYSSWIPQEMAAAGFYFTGVKSGIQCFCCSLILFGAGLTRLPIEDHKRF
HPDCGFLL
NKDVGNIAKYDIRVKNLKSRLRGGKMRYQEEEARLASFRNWPFYVQGISPCV
LSEAGFVFTGKQDTVQCFSCGGCLGNWEEGDDPWKEHAKWFPKCEFLR
SKKSSEEITQYI
QSYKGFVDITGEHFVNSWVQRELPMASAYCNDSIFAYEELRLDSFKDWPRESAVGVAALA
KAGLFYTGIKDIVQCFSCGGCLEKWQEGDDPLDDHTRCFPNCPFLQ
NMKSSAEVTPDLQS
RGELCELLETTSESNLEDSIAVGPIVPEMAQGEAQWFQEAKNLNEQLRAAYTSASFRHMS
LLDISSDLATDHLLGCDLSIASKHISKPVQEPLVLPEVFGNLNSVMCVEGEAGSGKTVLL
KKIAFLWASGCCPLLNRFQLVFYLSLSSTRPDEGLASIICDQLLEKEGSVTEMCVRNIIQ
QLKNQVLFLLDDYKEICSIPQVIGKLIQKNHLSRTCLLIAVRTNRARDIRRYLETILEIK
AFPFYNTVCILRKLFSHN
MTRLRKFMVYFGKNQSLQKIQKTPLFVAAICAHWFQYPFDPS
FDDVAVFKSYMERLSLRNKATAEILKATVSSCGELALKGFFSCCFEFNDDDLAEAGVDED
EDLTMCLMSKFTAQRLRPFYRF
LSPAFQEFLAGMRLIELLDSDRQEHQDLGLYHLKQINS
PMMTVSAYNNFLNYVSSLPSTKAGPKIVSHLLHLVDNKESLENISENDDYLKHQPEISLQ
MQLLRGLWQICPQAYFSMVSEHLLVLALKTAY
QSNTVAACSPFVLQFLQGRTLTLGALNL
QYFFDHPESLSLLRSIHFPIRGNKTSPRAHFSVLETCFDKSQVPTIDQDYASAFEPMNEW
ERNLAEKEDNVKSYMDMQRRASPDLSTGYWKLSPKQYKIPCLEVDVNDIDVVGQDMLEIL
MTVFSASQRIELHLNHSRGFIESIRPALELSKASVTKCSISKLELSAAEQELLLTLPSLE
SLEVSGTIQSQDQIFPNLDKFLCLKELSVDLEGNINVFSVIPEEFPNFHHMEKLLIQISA
EYDPSKLVKLIQNSPNLHVFHLKCNFFSDFGSLMTMLVSCKKLTEIKFSDSFFQAVPFVA
SLPNFISLKILNLEGQQFPDEETSEKFAYILGSLSNLEELILPTGDGIYRVAKLIIQQCQ
QLHCLRVLSFFKTLNDDSVVEIAKVAISGGFQKLENLKLSINHKITEEGYRNFFQALDNM
PNLQELDISRHFTECIKAQATTVKSLSQCVLRLPRLIRLNMLSWLLDADDIALLNVMKER
HPQSKYLTILQKWILPFSPIIQK
Sequence length 1403
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  NOD-like receptor signaling pathway
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Legionellosis
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2 Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3 Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, INFANTILE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Inhibit 17292615
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 17923748
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Associate 17292615
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Associate 37873933
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Associate 36329882
★☆☆☆☆
Found in Text Mining only
Diffuse Neurofibrillary Tangles with Calcification Associate 17292615
★☆☆☆☆
Found in Text Mining only
HIV Infections Associate 33861800
★☆☆☆☆
Found in Text Mining only
Hypersensitivity Immediate Associate 11266116, 11912351, 18533950
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 22545106
★☆☆☆☆
Found in Text Mining only
Intervertebral Disc Degeneration Associate 37267294
★☆☆☆☆
Found in Text Mining only