NLRP1 NLR family pyrin domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NLRP1provided by HGNC
Official Full Name: NLR family pyrin domain containing 1provided by HGNC
Primary source: HGNC:HGNC:14374
See related: Ensembl:ENSG00000091592 MIM:606636; AllianceGenome:HGNC:14374
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: NAC; JRRP; MSPC; AIADK; CARD7; CIDED; NALP1; SLEV1; DEFCAP; PP1044; VAMAS1; CLR17.1; DEFCAP-L/S
Summary: This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Expression: Broad expression in skin (RPKM 23.7), spleen (RPKM 21.9) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (5501396..5584509, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (5395133..5478273, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (5404716..5487829, complement)

Chromosome 17 - NC_000017.11 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?

Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia.
Title: Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia.
NLRP1 restricts porcine deltacoronavirus infection via IL-11 inhibiting the phosphorylation of the ERK signaling pathway.
Title: NLRP1 restricts porcine deltacoronavirus infection via IL-11 inhibiting the phosphorylation of the ERK signaling pathway.
Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases.
Title: Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases.
Low-level NLRP1 is associated with increased metastasis and risk of recurrence of non-melanoma skin cancer.
Title: Low-level NLRP1 is associated with increased metastasis and risk of recurrence of non-melanoma skin cancer.
NLRP1- A CINDERELLA STORY: a perspective of recent advances in NLRP1 and the questions they raise.
Title: NLRP1- A CINDERELLA STORY: a perspective of recent advances in NLRP1 and the questions they raise.
Purinergic neurotransmission receptor P2X4 silencing alleviates intracerebral hemorrhage-induced neuroinflammation by blocking the NLRP1/Caspase-1 pathway.
Title: Purinergic neurotransmission receptor P2X4 silencing alleviates intracerebral hemorrhage-induced neuroinflammation by blocking the NLRP1/Caspase-1 pathway.
A common variant close to the "tripwire" linker region of NLRP1 contributes to severe COVID-19.
Title: A common variant close to the "tripwire" linker region of NLRP1 contributes to severe COVID-19.
[Expressions of NLRP1 and NLRC4 inflammasomes in prostate cancer and their clinical value].
Title: [Expressions of NLRP1 and NLRC4 inflammasomes in prostate cancer and their clinical value].
Structural basis for thioredoxin-mediated suppression of NLRP1 inflammasome.
Title: Structural basis for thioredoxin-mediated suppression of NLRP1 inflammasome.
Tripping the wire: sensing of viral protease activity by CARD8 and NLRP1 inflammasomes.
Title: Tripping the wire: sensing of viral protease activity by CARD8 and NLRP1 inflammasomes.

Submit: New GeneRIF Correction See all GeneRIFs (143)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autoinflammation with arthritis and dyskeratosis MedGen: C4479278 OMIM: 617388 GeneReviews: Not available	Compare labs
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome MedGen: C3808876 OMIM: 615225 GeneReviews: Not available	Compare labs
Respiratory papillomatosis, juvenile recurrent, congenital MedGen: C5394112 OMIM: 618803 GeneReviews: Not available	Compare labs
Vitiligo-associated multiple autoimmune disease susceptibility 1 MedGen: C1847835 OMIM: 606579 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of NLR family, pyrin domain containing 1 (NLRP1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Upregulation of apoptosis genes such as caspase 1, NALP1, and TNF receptor-associated factor 5 are induced by HIV-gp120/ethanol in human neurons	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1303 (e-PCR), detects polymorphism
- UniSTS:37388

RH78691 (e-PCR)
- UniSTS:6688

STS-H51285 (e-PCR)
- UniSTS:66370

SHGC-148247 (e-PCR)
- UniSTS:172962

RH121127 (e-PCR)
- UniSTS:134122

D17S974 (e-PCR)
- UniSTS:11768

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteine-type endopeptidase activator activity involved in apoptotic process	NAS Non-traceable Author Statement more info	PubMed
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular condensate scaffold activity	IDA Inferred from Direct Assay more info	PubMed
enables pattern recognition receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in NLRP1 inflammasome complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in NLRP1 inflammasome complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in antiviral innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic process	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to UV-B	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to bacterium	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in pattern recognition receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptosis	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptosis	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in response to muramyl dipeptide	ISS Inferred from Sequence or Structural Similarity more info
involved_in self proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of NLRP1 inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
part_of NLRP1 inflammasome complex	IPI Inferred from Physical Interaction more info	PubMed
part_of NLRP1 inflammasome complex	TAS Traceable Author Statement more info	PubMed
part_of canonical inflammasome complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleolus	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: NACHT, LRR and PYD domains-containing protein 1

Names: NACHT, LRR and PYD containing protein 1; NACHT, leucine rich repeat and PYD (pyrin domain) containing 1; NACHT, leucine rich repeat and PYD containing 1; caspase recruitment domain protein 7; caspase recruitment domain-containing protein 7; death effector filament-forming Ced-4-like apoptosis protein; nucleotide-binding domain and caspase recruitment domain; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1

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_011651.1 RefSeqGene

Range

5004..75395

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001033053.3 → NP_001028225.1 NACHT, LRR and PYD domains-containing protein 1 isoform 5

See identical proteins and their annotated locations for NP_001028225.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) has an alternate 3' sequence, as compared to variant 1. The resulting isoform (5) has a distinct and shorter C-terminus, as compared to isoform 1.

Source sequence(s)

AB023143, AC055839, AK026398, BP391071

Consensus CDS

CCDS32537.1

UniProtKB/TrEMBL

A0A8V8TNN3

Related

ENSP00000262467.5, ENST00000262467.11

Conserved Domains (6) summary

smart00382
Location:327 → 416

AAA; ATPases associated with a variety of cellular activities

cd00116
Location:810 → 988

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 ...

cd08320
Location:9 → 88

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00034
Location:810 → 838

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:328 → 497

NACHT; NACHT domain

pfam13553
Location:1104 → 1357

FIIND; Function to find
NM_014922.5 → NP_055737.1 NACHT, LRR and PYD domains-containing protein 1 isoform 2

See identical proteins and their annotated locations for NP_055737.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, as compared to variant 1. The encoded isoform 2 is missing an internal segment, as compared to isoform 1.

Source sequence(s)

AB023143, AC055839, AI819334

Consensus CDS

CCDS42245.1

UniProtKB/TrEMBL

A0A8V8TNJ2

Related

ENSP00000459661.3, ENST00000571451.7

Conserved Domains (8) summary

cd08320
Location:9 → 88

Pyrin_NALPs; Pyrin death domain found in NALP proteins

cd08330
Location:1336 → 1416

CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins

sd00034
Location:810 → 838

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:328 → 497

NACHT; NACHT domain

pfam13553
Location:1100 → 1310

FIIND; Function to find

pfam17776
Location:623 → 733

NLRC4_HD2; NLRC4 helical domain HD2

pfam17779
Location:567 → 621

NOD2_WH; NOD2 winged helix domain

cl39015
Location:810 → 988

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 ...
NM_033004.4 → NP_127497.1 NACHT, LRR and PYD domains-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_127497.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AB023143, AC055839, AF229060, AI819334

Consensus CDS

CCDS42246.1

UniProtKB/Swiss-Prot

E9PE50, I6L9D9, Q9BZZ8, Q9BZZ9, Q9C000, Q9H5Z7, Q9H5Z8, Q9HAV8, Q9UFT4, Q9Y2E0

UniProtKB/TrEMBL

A0A8V8TNJ2

Related

ENSP00000460475.1, ENST00000572272.6

Conserved Domains (8) summary

cd08320
Location:9 → 88

Pyrin_NALPs; Pyrin death domain found in NALP proteins

cd08330
Location:1380 → 1460

CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins

sd00034
Location:810 → 838

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:328 → 497

NACHT; NACHT domain

pfam13553
Location:1100 → 1354

FIIND; Function to find

pfam17776
Location:623 → 733

NLRC4_HD2; NLRC4 helical domain HD2

pfam17779
Location:567 → 621

NOD2_WH; NOD2 winged helix domain

cl39015
Location:810 → 988

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 ...
NM_033006.4 → NP_127499.1 NACHT, LRR and PYD domains-containing protein 1 isoform 3

See identical proteins and their annotated locations for NP_127499.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame exon in the middle coding region, as compared to variant 1. The encoded isoform 3 is missing an internal segment, as compared to isoform 1.

Source sequence(s)

AB023143, AC055839, AF229062, AI819334

Consensus CDS

CCDS42244.1

UniProtKB/TrEMBL

A0A8V8TNJ2

Related

ENSP00000346390.3, ENST00000354411.8

Conserved Domains (7) summary

smart00382
Location:327 → 416

AAA; ATPases associated with a variety of cellular activities

cd00116
Location:800 → 960

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 ...

cd08320
Location:9 → 88

Pyrin_NALPs; Pyrin death domain found in NALP proteins

cd08330
Location:1350 → 1430

CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins

sd00034
Location:810 → 838

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:328 → 497

NACHT; NACHT domain

pfam13553
Location:1070 → 1324

FIIND; Function to find
NM_033007.4 → NP_127500.1 NACHT, LRR and PYD domains-containing protein 1 isoform 4

See identical proteins and their annotated locations for NP_127500.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two in-frame exons in the coding region, as compared to variant 1. The encoded isoform 4 is missing two internal segments, as compared to isoform 1.

Source sequence(s)

AB023143, AC055839, AF229061, AI819334

Consensus CDS

CCDS58508.1

UniProtKB/TrEMBL

A0A8V8TNJ2

Related

ENSP00000460216.1, ENST00000577119.5

Conserved Domains (7) summary

smart00382
Location:327 → 416

AAA; ATPases associated with a variety of cellular activities

cd00116
Location:800 → 960

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 ...

cd08320
Location:9 → 88

Pyrin_NALPs; Pyrin death domain found in NALP proteins

cd08330
Location:1306 → 1386

CARD_ASC_NALP1; Caspase activation and recruitment domain found in Human ASC, NALP1, and similar proteins

sd00034
Location:810 → 838

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:328 → 497

NACHT; NACHT domain

pfam13553
Location:1070 → 1280

FIIND; Function to find