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; addition... See more...

Aliases for NAIP Gene

Aliases for NAIP Gene

  • NLR Family Apoptosis Inhibitory Protein 2 3 5
  • Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And BIR Domain Containing 1 2 3
  • Baculoviral IAP Repeat-Containing Protein 1 3 4
  • Neuronal Apoptosis Inhibitory Protein 3 4
  • BIRC1 3 4
  • Psi Neuronal Apoptosis Inhibitory Protein 3
  • NLR Family, BIR Domain Containing 1 2
  • Baculoviral IAP Repeat-Containing 1 2
  • PsiNAIP 3
  • NLRB1 3

External Ids for NAIP Gene

Previous HGNC Symbols for NAIP Gene

  • BIRC1

Previous GeneCards Identifiers for NAIP Gene

  • GC05M070401
  • GC05M070301
  • GC05M070267

Summaries for NAIP Gene

Entrez Gene Summary for NAIP Gene

  • 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. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]

GeneCards Summary for NAIP Gene

NAIP (NLR Family Apoptosis Inhibitory Protein) is a Protein Coding gene. Diseases associated with NAIP include Spinal Muscular Atrophy, Type Iii and Spinal Muscular Atrophy, Type I. Among its related pathways are Nucleotide-binding Oligomerization Domain (NOD) pathway and Pathogenic Escherichia coli infection. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and cysteine-type endopeptidase inhibitor activity involved in apoptotic process. An important paralog of this gene is NLRC4.

UniProtKB/Swiss-Prot Summary for NAIP Gene

  • 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.
  • Acts as a sensor component of the NLRC4 inflammasome that specifically recognizes and binds needle protein CprI from pathogenic bacteria C.violaceum. Association of pathogenic bacteria proteins drives in turn drive assembly and activation of the NLRC4 inflammasome, promoting caspase-1 activation, cytokine production and macrophage pyroptosis. The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria such as C.violaceum and L.pneumophila.

Gene Wiki entry for NAIP Gene

Additional gene information for NAIP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NAIP Gene

Genomics for NAIP Gene

GeneHancer (GH) Regulatory Elements for NAIP Gene

Promoters and enhancers for NAIP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J071017 Promoter 0.7 EPDnew Ensembl 500.4 +5.9 5913 3.6 NAIP RF00017-4696 piR-39472-004 RF00017-4695 RF00017-4693
GH05J071481 Enhancer 0.9 Ensembl ENCODE 4.6 -457.9 -457886 3.6 ZSCAN5C TCF12 JUND FOS TCF7 ATF2 FOXA2 WT1 CREB1 CEBPB lnc-GTF2H2-9 MCCC2 BDP1 ENSG00000253366 GUSBP9 SMN1 MRPS27 NAIP RF00017-4702 RF00017-4700
GH05J071388 Enhancer 0.8 Ensembl 5.3 -363.2 -363226 0.7 TOE1 CTBP1 TAF9B HDAC3 NCOR1 NFIC TRIM24 CEBPG MNT ZNF335 NAIP lnc-BDP1-4 PMCHL2 lnc-BDP1-3 LINC02197 lnc-GTF2H2-9
GH05J071403 Enhancer 0.4 Ensembl 5.3 -380.2 -380187 1.8 OSR2 ZNF843 FEZF1 ZNF580 MCCC2 NAIP lnc-BDP1-3 PMCHL2 lnc-BDP1-4 LINC02197 lnc-GTF2H2-9
GH05J071838 Enhancer 0.5 Ensembl 4.2 -814.3 -814287 1.2 EP300 RFX1 SMC3 POLR2A USF1 MITF SMARCA4 RAD21 BMI1 NAIP RF02543-039 RF00994-836 LOC105379027
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NAIP on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NAIP

Top Transcription factor binding sites by QIAGEN in the NAIP gene promoter:
  • aMEF-2
  • AML1a
  • FOXD1
  • MEF-2A
  • Pax-2
  • Pax-2a
  • Pax-2b
  • POU2F1
  • POU2F1a
  • STAT5A

Genomic Locations for NAIP Gene

Genomic Locations for NAIP Gene
chr5:70,968,483-71,025,114
(GRCh38/hg38)
Size:
56,632 bases
Orientation:
Minus strand
chr5:70,264,310-70,320,941
(GRCh37/hg19)
Size:
56,632 bases
Orientation:
Minus strand

Genomic View for NAIP Gene

Genes around NAIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NAIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NAIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAIP Gene

Proteins for NAIP Gene

  • Protein details for NAIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13075-BIRC1_HUMAN
    Recommended name:
    Baculoviral IAP repeat-containing protein 1
    Protein Accession:
    Q13075
    Secondary Accessions:
    • B9EG72
    • E9PHD1
    • O75857
    • Q13730
    • Q59GI6
    • Q8TDZ4
    • Q99796

    Protein attributes for NAIP Gene

    Size:
    1403 amino acids
    Molecular mass:
    159582 Da
    Quaternary structure:
    • Interacts (via NACHT domain) with APAF1 (via CARD and NACHT domains). Interacts with C.violaceum needle protein CprI.
    SequenceCaution:
    • Sequence=AAC62261.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NAIP Gene

    Alternative splice isoforms for NAIP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAIP Gene

Post-translational modifications for NAIP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NAIP Gene

Domains & Families for NAIP Gene

Gene Families for NAIP Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for NAIP Gene

Blocks:
  • Baculovirus inhibitor of apoptosis protein repeat (BIR)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NAIP Gene

GenScript: Design optimal peptide antigens:
  • NAIP protein (B7ZLE8_HUMAN)
  • Neuronal apoptosis inhibitory protein (BIRC1_HUMAN)
  • Psi neuronal apoptosis inhibitory protein (Q8TDZ4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13075

UniProtKB/Swiss-Prot:

BIRC1_HUMAN :
  • Both the BIR and NACHT domains are essential for effective inhibition of pro-CASP9 cleavage. BIR3 domain binds to procaspase-9 and the NACHT domain interacts with the NACHT domain of APAF1 forming a bridge between pro-CASP9 and APAF1.
Domain:
  • Both the BIR and NACHT domains are essential for effective inhibition of pro-CASP9 cleavage. BIR3 domain binds to procaspase-9 and the NACHT domain interacts with the NACHT domain of APAF1 forming a bridge between pro-CASP9 and APAF1.
genes like me logo Genes that share domains with NAIP: view

Function for NAIP Gene

Molecular function for NAIP Gene

UniProtKB/Swiss-Prot 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 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.
UniProtKB/Swiss-Prot Function:
Acts as a sensor component of the NLRC4 inflammasome that specifically recognizes and binds needle protein CprI from pathogenic bacteria C.violaceum. Association of pathogenic bacteria proteins drives in turn drive assembly and activation of the NLRC4 inflammasome, promoting caspase-1 activation, cytokine production and macrophage pyroptosis. The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria such as C.violaceum and L.pneumophila.

Gene Ontology (GO) - Molecular Function for NAIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004869 cysteine-type endopeptidase inhibitor activity IEA --
GO:0005515 protein binding IPI 21371431
GO:0005524 ATP binding IMP 21371431
GO:0030414 peptidase inhibitor activity IEA --
GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process IEA --
genes like me logo Genes that share ontologies with NAIP: view
genes like me logo Genes that share phenotypes with NAIP: view

Animal Model Products

CRISPR Products

miRNA for NAIP Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NAIP Gene

Localization for NAIP Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NAIP gene
Compartment Confidence
plasma membrane 4
nucleus 3
cytosol 3
extracellular 2
cytoskeleton 2
mitochondrion 2
lysosome 2
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NAIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0016323 basolateral plasma membrane ISS --
genes like me logo Genes that share ontologies with NAIP: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for NAIP Gene

Pathways & Interactions for NAIP Gene

genes like me logo Genes that share pathways with NAIP: view

SIGNOR curated interactions for NAIP Gene

Inactivates:

Gene Ontology (GO) - Biological Process for NAIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006915 apoptotic process IEA --
GO:0006954 inflammatory response IEA --
GO:0007399 nervous system development TAS 7813013
GO:0010466 negative regulation of peptidase activity IEA --
genes like me logo Genes that share ontologies with NAIP: view

Drugs & Compounds for NAIP Gene

(8) Drugs for NAIP Gene - From: DGIdb and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
AEG40826 Pharma Antagonist Inhibitor of apoptosis proteins (IAPS) antagonist 0
GDC0917 Pharma Antagonist Inhibitor of apoptosis proteins (IAPS) antagonist 0
LCL161 Pharma Antagonist Antagonist of IAPs inhibitor, Inhibitor of apoptosis proteins (IAPS) antagonist 0
TL 32711 Pharma Antagonist Inhibitor of apoptosis proteins (IAPS) antagonist 0
genes like me logo Genes that share compounds with NAIP: view

Transcripts for NAIP Gene

mRNA/cDNA for NAIP Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAIP Gene

No ASD Table

Relevant External Links for NAIP Gene

GeneLoc Exon Structure for
NAIP

Expression for NAIP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NAIP Gene

mRNA differential expression in normal tissues according to GTEx for NAIP Gene

This gene is overexpressed in Whole Blood (x21.0).

Protein differential expression in normal tissues from HIPED for NAIP Gene

This gene is overexpressed in Heart (19.2), Monocytes (18.9), Lymph node (10.1), Peripheral blood mononuclear cells (8.7), and Blymphocyte (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NAIP Gene



Protein tissue co-expression partners for NAIP Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NAIP

SOURCE GeneReport for Unigene cluster for NAIP Gene:

Hs.654500

mRNA Expression by UniProt/SwissProt for NAIP Gene:

Q13075-BIRC1_HUMAN
Tissue specificity: Expressed in motor neurons, but not in sensory neurons. Found in liver and placenta, and to a lesser extent in spinal cord.

Evidence on tissue expression from TISSUES for NAIP Gene

  • Nervous system(4.5)
  • Blood(4.2)
  • Liver(4.2)
  • Spleen(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NAIP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
  • mouth
  • tongue
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with NAIP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for NAIP Gene

Orthologs for NAIP Gene

This gene was present in the common ancestor of animals.

Orthologs for NAIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NAIP 31 30
  • 99.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NAIP 31 30
  • 81.18 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Naip2 17 31 30
  • 76.84 (n)
Naip1 31
  • 68 (a)
OneToMany
Naip5 31
  • 67 (a)
OneToMany
Naip6 31
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia NAIP 31
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490991 30
  • 52.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta Iap2 31
  • 20 (a)
ManyToMany
th 31
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 23 (a)
ManyToMany
-- 31
  • 22 (a)
ManyToMany
-- 31
  • 20 (a)
ManyToMany
-- 31
  • 19 (a)
ManyToMany
-- 31
  • 18 (a)
ManyToMany
-- 31
  • 14 (a)
ManyToMany
-- 31
  • 13 (a)
ManyToMany
-- 31
  • 11 (a)
ManyToMany
Species where no ortholog for NAIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NAIP Gene

ENSEMBL:
Gene Tree for NAIP (if available)
TreeFam:
Gene Tree for NAIP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NAIP: view image

Paralogs for NAIP Gene

Paralogs for NAIP Gene

(8) SIMAP similar genes for NAIP Gene using alignment to 5 proteins:

  • BIRC1_HUMAN
  • B7ZLE8_HUMAN
  • E5RJA3_HUMAN
  • E7EQW0_HUMAN
  • H0YAX2_HUMAN

Pseudogenes.org Pseudogenes for NAIP Gene

genes like me logo Genes that share paralogs with NAIP: view

Variants for NAIP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NAIP Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
156975 Not Provided: Large for gestational age; Normal pregnancy; Gestational diabetes mellitus uncontrolled 71,009,868(-) AGAAAGTCATGTAGAA SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT,INTRON_VARIANT
710844 Likely Benign: not provided 71,012,727(-) C/A MISSENSE_VARIANT,INTRON_VARIANT
711015 Likely Benign: not provided 71,012,595(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs1423904967 - p.Val535Met

Additional dbSNP identifiers (rs#s) for NAIP Gene

Structural Variations from Database of Genomic Variants (DGV) for NAIP Gene

Variant ID Type Subtype PubMed ID
dgv1106e214 CNV gain 21293372
dgv134e203 CNV gain+loss 21179565
dgv19n31 CNV gain 19718026
dgv27n14 CNV loss 18776910
dgv3323e59 CNV duplication 20981092
dgv5695n100 CNV gain 25217958
dgv5696n100 CNV loss 25217958
dgv5697n100 CNV gain+loss 25217958
dgv7e224 CNV loss 25118596
dgv9838n54 CNV loss 21841781
dgv9845n54 CNV loss 21841781
dgv9857n54 CNV loss 21841781
dgv9859n54 CNV gain 21841781
dgv9860n54 CNV gain 21841781
dgv9861n54 CNV gain 21841781
dgv9862n54 CNV loss 21841781
dgv9863n54 CNV gain 21841781
dgv9864n54 CNV loss 21841781
dgv9865n54 CNV loss 21841781
dgv9866n54 CNV gain 21841781
dgv9867n54 CNV gain 21841781
dgv9868n54 CNV gain 21841781
dgv9869n54 CNV loss 21841781
dgv9870n54 CNV loss 21841781
dgv9871n54 CNV loss 21841781
dgv9872n54 CNV loss 21841781
dgv9876n54 CNV loss 21841781
esv1011240 CNV gain 20482838
esv22113 CNV gain+loss 19812545
esv2590135 CNV gain 19546169
esv2673843 CNV deletion 23128226
esv2759348 CNV gain+loss 17122850
esv32787 CNV gain+loss 17666407
esv3349626 CNV duplication 20981092
esv3379231 CNV duplication 20981092
esv3380146 CNV duplication 20981092
esv3380184 CNV duplication 20981092
esv3570183 CNV loss 25503493
esv3605385 CNV loss 21293372
esv3605386 CNV loss 21293372
esv3890644 CNV gain+loss 25118596
esv3890645 CNV loss 25118596
esv3890647 CNV loss 25118596
esv3890650 CNV loss 25118596
esv3890652 CNV loss 25118596
esv3890655 CNV gain 25118596
esv3890656 CNV loss 25118596
nsv1033366 CNV gain 25217958
nsv1034703 CNV gain 25217958
nsv10707 CNV gain+loss 18304495
nsv1074306 CNV deletion 25765185
nsv1119034 CNV deletion 24896259
nsv428117 CNV gain+loss 18775914
nsv433373 CNV gain 18776910
nsv469668 CNV gain 16826518
nsv471434 CNV gain 19718026
nsv4870 CNV insertion 18451855
nsv511106 OTHER inversion 20534489
nsv511107 OTHER complex 20534489
nsv511278 CNV gain 21212237
nsv511290 CNV gain 21212237
nsv598462 CNV gain 21841781
nsv598533 CNV loss 21841781
nsv598536 CNV gain 21841781
nsv598543 CNV loss 21841781
nsv598545 CNV loss 21841781
nsv598560 CNV loss 21841781
nsv598561 CNV loss 21841781
nsv598573 CNV loss 21841781
nsv598578 CNV loss 21841781
nsv598583 CNV loss 21841781
nsv598584 CNV gain 21841781
nsv598587 CNV gain+loss 21841781
nsv598637 CNV loss 21841781
nsv7371 OTHER inversion 18451855
nsv821643 CNV loss 15273396
nsv823094 CNV loss 20364138
nsv823095 CNV gain 20364138
nsv823096 CNV gain+loss 20364138
nsv830339 CNV gain 17160897
nsv964885 CNV duplication 23825009
nsv964886 CNV duplication 23825009
nsv964887 CNV duplication 23825009
nsv980677 CNV duplication 23825009

Variation tolerance for NAIP Gene

Gene Damage Index Score: 1.67; 31.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAIP Gene

Human Gene Mutation Database (HGMD)
NAIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NAIP

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAIP Gene

Disorders for NAIP Gene

MalaCards: The human disease database

(16) MalaCards diseases for NAIP Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NAIP in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NAIP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NAIP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NAIP Gene

Publications for NAIP Gene

  1. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. (PMID: 7813013) Roy N … Kang X (Cell 1995) 2 3 4 23 54
  2. Structures of BIR domains from human NAIP and cIAP2. (PMID: 19923725) Herman MD … Nyman T (Acta crystallographica. Section F, Structural biology and crystallization communications 2009) 3 4 23 54
  3. Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease. (PMID: 19287802) Jedrzejowska M … Hausmanowa-Petrusewicz I (Acta biochimica Polonica 2009) 3 23 41 54
  4. Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy. (PMID: 19198020) Liang YH … Zhang XN (Journal of Zhejiang University. Science. B 2009) 3 23 41 54
  5. Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy. (PMID: 18842367) Watihayati MS … Zilfalil BA (Brain & development 2009) 3 23 41 54

Products for NAIP Gene

Sources for NAIP Gene