U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    NAIP NLR family apoptosis inhibitory protein [ Homo sapiens (human) ]

    Gene ID: 4671, updated on 28-Oct-2024

    Summary

    Official Symbol
    NAIPprovided by HGNC
    Official Full Name
    NLR family apoptosis inhibitory proteinprovided by HGNC
    Primary source
    HGNC:HGNC:7634
    See related
    Ensembl:ENSG00000249437 MIM:600355; AllianceGenome:HGNC:7634
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BIRC1; NLRB1; psiNAIP
    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 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]
    Expression
    Broad expression in appendix (RPKM 20.5), spleen (RPKM 11.7) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NAIP in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (70968166..71025339, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (71424931..71482091, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70263993..70321166, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene small EDRK-rich factor 1A Neighboring gene mitochondrial import receptor subunit TOM5 homolog Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70220520-70221452 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70227603-70228594 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:70228664-70229392 Neighboring gene survival motor neuron- antisense 1 Neighboring gene survival of motor neuron 1, telomeric Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70260097-70260788 Neighboring gene uncharacterized LOC112267942 Neighboring gene NAIP promoter region Neighboring gene general transcription factor IIH subunit 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:70362331-70362930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:70380837-70381338 Neighboring gene OCLN pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 13B-2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ18088, FLJ42520, FLJ58811

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cysteine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in detection of bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in icosanoid biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of tumor necrosis factor-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in pattern recognition receptor signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of JNK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of inflammatory response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of interleukin-1 beta production NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in pyroptotic inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in pyroptotic inflammatory response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acts_upstream_of_negative_effect regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of IPAF inflammasome complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of canonical inflammasome complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    baculoviral IAP repeat-containing protein 1
    Names
    neuronal apoptosis inhibitory protein
    nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1
    psi neuronal apoptosis inhibitory protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008724.1 RefSeqGene

      Range
      4776..61949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346870.2NP_001333799.1  baculoviral IAP repeat-containing protein 1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Consensus CDS
      CCDS4009.1
      UniProtKB/Swiss-Prot
      B9EG72, E9PHD1, O75857, Q13075, Q13730, Q59GI6, Q8TDZ4, Q99796
      UniProtKB/TrEMBL
      E7EQW0
      Related
      ENSP00000443944.1, ENST00000194097.8
    2. NM_004536.3NP_004527.2  baculoviral IAP repeat-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_004527.2

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Consensus CDS
      CCDS4009.1
      UniProtKB/Swiss-Prot
      B9EG72, E9PHD1, O75857, Q13075, Q13730, Q59GI6, Q8TDZ4, Q99796
      UniProtKB/TrEMBL
      E7EQW0
      Related
      ENSP00000428657.2, ENST00000517649.6
      Conserved Domains (6) summary
      smart00238
      Location:159229
      BIR; Baculoviral inhibition of apoptosis protein repeat
      smart00382
      Location:463600
      AAA; ATPases associated with a variety of cellular activities
      cd00116
      Location:11711379
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:10551078
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:11571182
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:464617
      NACHT; NACHT domain
    3. NM_022892.2NP_075043.1  baculoviral IAP repeat-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_075043.1

      Status: REVIEWED

      Source sequence(s)
      AC044797
      Consensus CDS
      CCDS43327.1
      UniProtKB/TrEMBL
      A0A0G2JQE0
      Related
      ENSP00000428363.1, ENST00000523981.5
      Conserved Domains (6) summary
      smart00238
      Location:116185
      BIR; Baculoviral inhibition of apoptosis protein repeat
      smart00382
      Location:301438
      AAA; ATPases associated with a variety of cellular activities
      cd00116
      Location:10091212
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:893916
      LRR_RI; leucine-rich repeat [structural motif]
      sd00034
      Location:9951020
      LRR_AMN1; leucine-rich repeat [structural motif]
      pfam05729
      Location:302455
      NACHT; NACHT domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      70968166..71025339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791777.1 Reference GRCh38.p14 PATCHES

      Range
      1381100..1513383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443284.1XP_047299240.1  baculoviral IAP repeat-containing protein 1 isoform X7

    2. XM_047443281.1XP_047299237.1  baculoviral IAP repeat-containing protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A0G2JNC7
    3. XM_047443282.1XP_047299238.1  baculoviral IAP repeat-containing protein 1 isoform X5

    4. XM_047443287.1XP_047299243.1  baculoviral IAP repeat-containing protein 1 isoform X8

    5. XM_047443278.1XP_047299234.1  baculoviral IAP repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JS53
    6. XM_047443288.1XP_047299244.1  baculoviral IAP repeat-containing protein 1 isoform X9

    7. XM_047443279.1XP_047299235.1  baculoviral IAP repeat-containing protein 1 isoform X2

    8. XM_047443280.1XP_047299236.1  baculoviral IAP repeat-containing protein 1 isoform X3

      UniProtKB/TrEMBL
      B7ZLE8
    9. XM_047443285.1XP_047299241.1  baculoviral IAP repeat-containing protein 1 isoform X8

    10. XM_047443283.1XP_047299239.1  baculoviral IAP repeat-containing protein 1 isoform X6

    11. XM_047443286.1XP_047299242.1  baculoviral IAP repeat-containing protein 1 isoform X8

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      385507..442658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      516561..573719 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      71424931..71482091 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)