Human Gene NAIP (ENST00000517649.6_12) from GENCODE V47lift37
  Description: NLR family apoptosis inhibitory protein, transcript variant 1 (from RefSeq NM_004536.3)
Gencode Transcript: ENST00000517649.6_12
Gencode Gene: ENSG00000249437.8_15
Transcript (Including UTRs)
   Position: hg19 chr5:70,263,993-70,321,166 Size: 57,174 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr5:70,265,931-70,308,742 Size: 42,812 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:70,263,993-70,321,166)mRNA (may differ from genome)Protein (1403 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BIRC1_HUMAN
DESCRIPTION: RecName: Full=Baculoviral IAP repeat-containing protein 1; AltName: Full=Neuronal apoptosis inhibitory 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 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.
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.
SUBUNIT: Interacts (via NACHT domain) with APAF1 (via CARD and NACHT domains). Interacts with C.violaceum needle protein CprI.
TISSUE SPECIFICITY: Expressed in motor neurons, but not in sensory neurons. Found in liver and placenta, and to a lesser extent in spinal cord.
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.
SIMILARITY: Contains 3 BIR repeats.
SIMILARITY: Contains 1 NACHT domain.
SEQUENCE CAUTION: Sequence=AAC62261.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NAIP
Diseases sorted by gene-association score: spinal muscular atrophy-3* (31), spinal muscular atrophy (27), spinal muscular atrophy-2* (27), spinal muscular atrophy-1* (26), muscular atrophy (20), granulomatous myositis (16), survival motor neuron spinal muscular atrophy (12), proximal spinal muscular atrophy (9), legionellosis (8), motor neuron disease (8), brown-vialetto-van laere syndrome (5), neuromuscular disease (5), muscle tissue disease (1), amyotrophic lateral sclerosis 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.32 RPKM in Whole Blood
Total median expression: 105.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -270.50943-0.287 Picture PostScript Text
3' UTR -489.601938-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR001370 - BIR
IPR007111 - NACHT_NTPase

Pfam Domains:
PF00653 - Inhibitor of Apoptosis domain
PF05729 - NACHT domain
PF17779 - NOD2 winged helix domain
PF17889 - NLRC4 helical domain

SCOP Domains:
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1
52540 - P-loop containing nucleoside triphosphate hydrolases
57924 - Inhibitor of apoptosis (IAP) repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2VM5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13075
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004842 ubiquitin-protein transferase activity
GO:0004869 cysteine-type endopeptidase inhibitor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0030414 peptidase inhibitor activity
GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process
GO:0046872 metal ion binding

Biological Process:
GO:0002376 immune system process
GO:0006915 apoptotic process
GO:0006954 inflammatory response
GO:0007399 nervous system development
GO:0010466 negative regulation of peptidase activity
GO:0016567 protein ubiquitination
GO:0043066 negative regulation of apoptotic process
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043200 response to amino acid
GO:0043524 negative regulation of neuron apoptotic process
GO:0045087 innate immune response
GO:0048678 response to axon injury
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1990001 inhibition of cysteine-type endopeptidase activity involved in apoptotic process
GO:0090307 mitotic spindle assembly

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0016323 basolateral plasma membrane
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043204 perikaryon


-  Descriptions from all associated GenBank mRNAs
  AB209123 - Homo sapiens mRNA for baculoviral IAP repeat-containing 1 variant protein.
JD344144 - Sequence 325168 from Patent EP1572962.
U19251 - Homo sapiens neuronal apoptosis inhibitory protein mRNA, complete cds.
JD469387 - Sequence 450411 from Patent EP1572962.
JD328583 - Sequence 309607 from Patent EP1572962.
JD177519 - Sequence 158543 from Patent EP1572962.
JD177518 - Sequence 158542 from Patent EP1572962.
JD447022 - Sequence 428046 from Patent EP1572962.
JD447021 - Sequence 428045 from Patent EP1572962.
JD217654 - Sequence 198678 from Patent EP1572962.
JD242152 - Sequence 223176 from Patent EP1572962.
JD473601 - Sequence 454625 from Patent EP1572962.
JD159134 - Sequence 140158 from Patent EP1572962.
JD159133 - Sequence 140157 from Patent EP1572962.
JD079906 - Sequence 60930 from Patent EP1572962.
JD105748 - Sequence 86772 from Patent EP1572962.
JD372699 - Sequence 353723 from Patent EP1572962.
JD145579 - Sequence 126603 from Patent EP1572962.
JD266050 - Sequence 247074 from Patent EP1572962.
JD138015 - Sequence 119039 from Patent EP1572962.
JD514785 - Sequence 495809 from Patent EP1572962.
JD258643 - Sequence 239667 from Patent EP1572962.
JD558330 - Sequence 539354 from Patent EP1572962.
JD138016 - Sequence 119040 from Patent EP1572962.
JD522360 - Sequence 503384 from Patent EP1572962.
JD564407 - Sequence 545431 from Patent EP1572962.
JD556427 - Sequence 537451 from Patent EP1572962.
JD138017 - Sequence 119041 from Patent EP1572962.
JD522361 - Sequence 503385 from Patent EP1572962.
JD500537 - Sequence 481561 from Patent EP1572962.
JD556428 - Sequence 537452 from Patent EP1572962.
JD358170 - Sequence 339194 from Patent EP1572962.
JD071048 - Sequence 52072 from Patent EP1572962.
JD319535 - Sequence 300559 from Patent EP1572962.
JD500538 - Sequence 481562 from Patent EP1572962.
JD338908 - Sequence 319932 from Patent EP1572962.
JD291800 - Sequence 272824 from Patent EP1572962.
JD432556 - Sequence 413580 from Patent EP1572962.
JD237498 - Sequence 218522 from Patent EP1572962.
JD347857 - Sequence 328881 from Patent EP1572962.
JD081082 - Sequence 62106 from Patent EP1572962.
JD113334 - Sequence 94358 from Patent EP1572962.
JD302893 - Sequence 283917 from Patent EP1572962.
JD396993 - Sequence 378017 from Patent EP1572962.
AK295115 - Homo sapiens cDNA FLJ58811 complete cds.
AK124511 - Homo sapiens cDNA FLJ42520 fis, clone BRACE3000840, highly similar to Baculoviral IAP repeat-containing protein 1.
BC143761 - Homo sapiens NLR family, apoptosis inhibitory protein, mRNA (cDNA clone MGC:177292 IMAGE:9052275), complete cds.
BC136273 - Homo sapiens NLR family, apoptosis inhibitory protein, mRNA (cDNA clone MGC:167883 IMAGE:9020260), complete cds.
AB048534 - Homo sapiens psiNAIP mRNA for psi neuronal apoptosis inhibitory protein, partial cds.
DQ571633 - Homo sapiens piRNA piR-31745, complete sequence.
DQ596410 - Homo sapiens piRNA piR-34476, complete sequence.
DQ786305 - Homo sapiens clone HLS_IMAGE_755093 mRNA sequence.
DQ579000 - Homo sapiens piRNA piR-47112, complete sequence.
DQ576271 - Homo sapiens piRNA piR-44383, complete sequence.
AK311046 - Homo sapiens cDNA, FLJ18088.
AK309627 - Homo sapiens cDNA, FLJ99668.
JD521469 - Sequence 502493 from Patent EP1572962.
JD273480 - Sequence 254504 from Patent EP1572962.
JD054799 - Sequence 35823 from Patent EP1572962.
JD231033 - Sequence 212057 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B9EG72, BIRC1, BIRC1_HUMAN, E9PHD1, ENST00000517649.1, ENST00000517649.2, ENST00000517649.3, ENST00000517649.4, ENST00000517649.5, NM_004536, O75857, Q13075, Q13730, Q59GI6, Q8TDZ4, Q99796, uc323puf.1, uc323puf.2
UCSC ID: ENST00000517649.6_12
RefSeq Accession: NM_004536.3
Protein: Q13075 (aka BIRC1_HUMAN or BIR1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.