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

Gene ID: 4671, updated on 13-Feb-2019

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
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

Genomic context

See NAIP in Genome Data Viewer
Location:
5q13.2
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (70968483..71025114, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (70264310..70320941, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene mitochondrial import receptor subunit TOM5 homolog pseudogene Neighboring gene small EDRK-rich factor 1A Neighboring gene survival of motor neuron 1, telomeric Neighboring gene uncharacterized LOC112267942 Neighboring gene NAIP promoter region Neighboring gene general transcription factor IIH subunit 2 Neighboring gene OCLN pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 13B-2 Neighboring gene NLR family apoptosis inhibitory protein pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • Legionellosis, organism-specific biosystem (from KEGG)
    Legionellosis, organism-specific biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
  • Legionellosis, conserved biosystem (from KEGG)
    Legionellosis, conserved biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
  • NOD-like receptor signaling pathway, organism-specific biosystem (from KEGG)
    NOD-like receptor signaling pathway, organism-specific biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • NOD-like receptor signaling pathway, conserved biosystem (from KEGG)
    NOD-like receptor signaling pathway, conserved biosystemSpecific families of pattern recognition receptors are responsible for detecting various pathogens and generating innate immune responses. The intracellular NOD-like receptor (NLR) family contains mo...
  • Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystem (from WikiPathways)
    Nucleotide-binding Oligomerization Domain (NOD) pathway, organism-specific biosystemThe NOD (nucleotide-binding oligomerization domain) proteins NOD1 and NOD2 have important roles in innate immunity as sensors of microbial components derived from bacterial peptidoglycan. The importa...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ18088, FLJ42520, FLJ58811

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
cysteine-type endopeptidase inhibitor activity involved in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron apoptotic process TAS
Traceable Author Statement
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 

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)

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
    5001..61632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Both variants 1 and 3 encode the same protein. This variant represents use of a long terminal repeat (LTR) promoter and exon sequence, and results in testis-specific expression.
    Source sequence(s)
    AC044797
    Consensus CDS
    CCDS4009.1
    UniProtKB/Swiss-Prot
    Q13075
    Related
    ENSP00000443944.1, ENST00000194097.8
  2. NM_004536.2NP_004527.2  baculoviral IAP repeat-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_004527.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 3 encode the same protein.
    Source sequence(s)
    AB048534, AC044797, U19251
    Consensus CDS
    CCDS4009.1
    UniProtKB/Swiss-Prot
    Q13075
    Related
    ENSP00000428657.1, ENST00000517649.5
    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_022892.1NP_075043.1  baculoviral IAP repeat-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_075043.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as psiNAIP, lacks two internal exons in the 5' coding region, as compared to variant 1. The resulting isoform (2) has an alternate and shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AB048534, AC044797, U19251
    Consensus CDS
    CCDS43327.1
    UniProtKB/Swiss-Prot
    Q13075
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    70968483..71025114 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    385732..442341
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NT_187651.1 Reference GRCh38.p12 ALT_REF_LOCI_2

    Range
    516878..573494 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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