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

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: all
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Genomic context

Location:: 5q13.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (70968166..71025339, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (71424931..71482091, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (70263993..70321166, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Targeting Desulfovibrio vulgaris flagellin-induced NAIP/NLRC4 inflammasome activation in macrophages attenuates ulcerative colitis.
Title: Targeting Desulfovibrio vulgaris flagellin-induced NAIP/NLRC4 inflammasome activation in macrophages attenuates ulcerative colitis.
Deletions of SMNI gene exon 7 and NAIP gene exon 5 in spinal muscular atrophy patients in selected population.
Title: Deletions of SMNI gene exon 7 and NAIP gene exon 5 in spinal muscular atrophy patients in selected population.
Pan-cancer analysis of the intervertebral-disc-degeneration-related innate immunity gene NAIP.
Title: Pan-cancer analysis of the intervertebral-disc-degeneration-related innate immunity gene NAIP.
Salmonella enterica Serovar Typhimurium Induces NAIP/NLRC4- and NLRP3/ASC-Independent, Caspase-4-Dependent Inflammasome Activation in Human Intestinal Epithelial Cells.
Title: Salmonella enterica Serovar Typhimurium Induces NAIP/NLRC4- and NLRP3/ASC-Independent, Caspase-4-Dependent Inflammasome Activation in Human Intestinal Epithelial Cells.
Bacterial detection by NAIP/NLRC4 elicits prompt contractions of intestinal epithelial cell layers.
Title: Bacterial detection by NAIP/NLRC4 elicits prompt contractions of intestinal epithelial cell layers.
Results suggest that that the copy number variance of SMN2 and NAIP is correlated with the spinal muscular atrophy (SMA) phenotype in 40 patients. The copy number of SMN2 and NAIP gene had synergistic effect on SMA phenotype. Analysis of the copy number structure of the SMN1-SMN2-NAIP gene is helpful for SMA typing, disease prognosis prediction, and genetic counseling.
Title: The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study.
Our present report implies that NAIP will have broad implications for ALS symptoms as a risk factor and a promising prognostic biomarker.
Title: Neuronal apoptosis inhibitory protein is implicated in amyotrophic lateral sclerosis symptoms.
Data document a previously unknown localization of NAIP along the entire cytokinetic process whose dynamics exhibits a distinct behavior.
Title: Neuronal apoptosis inhibitory protein (NAIP) localizes to the cytokinetic machinery during cell division.
NAIP expression is most abundant in M2 macrophages, while cIAP1 and cIAP2 show an inverse pattern of expression in polarized cells, cIAP2 is preferentially expressed in M1-macrophages and cIAP1 in M2-macrophages. IAP antagonist treatment of resting M0 macrophages preceding polarization stimulation, induced upregulation of NAIP in M2 and downregulation of cIAP1 in M1 and M2 but an induction of cIAP2 in M1 macrophages.
Title: Inhibitor of apoptosis proteins, NAIP, cIAP1 and cIAP2 expression during macrophage differentiation and M1/M2 polarization.
Deletion in NAIP gene is associated with spinal muscular atrophy.
Title: Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy.

Submit: New GeneRIF Correction See all GeneRIFs (49)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2799E (e-PCR)
- UniSTS:474202

D5S2800E (e-PCR)
- UniSTS:474203

Birc1-rs1 (e-PCR), detects polymorphism
- UniSTS:143987

SHGC-171452 (e-PCR)
- UniSTS:184196

D17S610 (e-PCR)
- UniSTS:46230

D5S266 (e-PCR)
- UniSTS:146921

SHGC-32267 (e-PCR)
- UniSTS:63725

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
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 inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor 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 pyroptosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in pyroptosis	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

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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)

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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

NG_008724.1 RefSeqGene

Range

4776..61949

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001346870.2 → NP_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
NM_004536.3 → NP_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:159 → 229

BIR; Baculoviral inhibition of apoptosis protein repeat

smart00382
Location:463 → 600

AAA; ATPases associated with a variety of cellular activities

cd00116
Location:1171 → 1379

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:1055 → 1078

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:1157 → 1182

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:464 → 617

NACHT; NACHT domain
NM_022892.2 → NP_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:116 → 185

BIR; Baculoviral inhibition of apoptosis protein repeat

smart00382
Location:301 → 438

AAA; ATPases associated with a variety of cellular activities

cd00116
Location:1009 → 1212

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:893 → 916

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:995 → 1020

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:302 → 455

NACHT; NACHT domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

70968166..71025339 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

NW_025791777.1 Reference GRCh38.p14 PATCHES

Range

1381100..1513383

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047443284.1 → XP_047299240.1 baculoviral IAP repeat-containing protein 1 isoform X7
XM_047443281.1 → XP_047299237.1 baculoviral IAP repeat-containing protein 1 isoform X4

UniProtKB/TrEMBL

A0A0G2JNC7
XM_047443282.1 → XP_047299238.1 baculoviral IAP repeat-containing protein 1 isoform X5
XM_047443287.1 → XP_047299243.1 baculoviral IAP repeat-containing protein 1 isoform X8
XM_047443278.1 → XP_047299234.1 baculoviral IAP repeat-containing protein 1 isoform X1

UniProtKB/TrEMBL

A0A0G2JS53
XM_047443288.1 → XP_047299244.1 baculoviral IAP repeat-containing protein 1 isoform X9
XM_047443279.1 → XP_047299235.1 baculoviral IAP repeat-containing protein 1 isoform X2
XM_047443280.1 → XP_047299236.1 baculoviral IAP repeat-containing protein 1 isoform X3

UniProtKB/TrEMBL

B7ZLE8
XM_047443285.1 → XP_047299241.1 baculoviral IAP repeat-containing protein 1 isoform X8
XM_047443283.1 → XP_047299239.1 baculoviral IAP repeat-containing protein 1 isoform X6
XM_047443286.1 → XP_047299242.1 baculoviral IAP repeat-containing protein 1 isoform X8