NLRP3 NLR family pyrin domain containing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NLRP3provided by HGNC
Official Full Name: NLR family pyrin domain containing 3provided by HGNC
Primary source: HGNC:HGNC:16400
See related: Ensembl:ENSG00000162711 MIM:606416; AllianceGenome:HGNC:16400
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: AII; AVP; FCU; MWS; FCAS; KEFH; CIAS1; FCAS1; NALP3; C1orf7; CLR1.1; DFNA34; PYPAF1; AGTAVPRL
Summary: This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020]
Annotation information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
Expression: Biased expression in bone marrow (RPKM 20.0), appendix (RPKM 6.0) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q44

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (247416077..247448817)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (246852567..246885459)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (247579475..247612119)

Chromosome 1 - NC_000001.11 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?

RNF20 Reduces Cell Proliferation and Warburg Effect by Promoting NLRP3 Ubiquitination in Liver Cancer.
Title: RNF20 Reduces Cell Proliferation and Warburg Effect by Promoting NLRP3 Ubiquitination in Liver Cancer.
ZDHHC5-mediated NLRP3 palmitoylation promotes NLRP3-NEK7 interaction and inflammasome activation.
Title: ZDHHC5-mediated NLRP3 palmitoylation promotes NLRP3-NEK7 interaction and inflammasome activation.
NLRP3 Inflammasome-dependent Pathway is Involved in the Pathogenesis of Polycystic Ovary Syndrome.
Title: NLRP3 Inflammasome-dependent Pathway is Involved in the Pathogenesis of Polycystic Ovary Syndrome.
ER stress promotes mitochondrial calcium overload and activates the ROS/NLRP3 axis to mediate fatty liver ischemic injury.
Title: ER stress promotes mitochondrial calcium overload and activates the ROS/NLRP3 axis to mediate fatty liver ischemic injury.
The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.
Title: The discovery of NLRP3 and its function in cryopyrin-associated periodic syndromes and innate immunity.
The role of the NLRP3 inflammasome and pyroptosis in cardiovascular diseases.
Title: The role of the NLRP3 inflammasome and pyroptosis in cardiovascular diseases.
Linc00657 promoted pyroptosis in THP-1-derived macrophages and exacerbated atherosclerosis via the miR-106b-5p/TXNIP/NLRP3 axis.
Title: Linc00657 promoted pyroptosis in THP-1-derived macrophages and exacerbated atherosclerosis via the miR-106b-5p/TXNIP/NLRP3 axis.
Expression and correlation of the NOD-like receptor family, pyrin domain-containing 3 inflammasome and the silent information regulator 1 in patients with drug-resistant epilepsy.
Title: Expression and correlation of the NOD-like receptor family, pyrin domain-containing 3 inflammasome and the silent information regulator 1 in patients with drug-resistant epilepsy.
Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses.
Title: Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses.
NFkappaB and NLRP3/NLRC4 inflammasomes regulate differentiation, activation and functional properties of monocytes in response to distinct SARS-CoV-2 proteins.
Title: NFκB and NLRP3/NLRC4 inflammasomes regulate differentiation, activation and functional properties of monocytes in response to distinct SARS-CoV-2 proteins.

Submit: New GeneRIF Correction See all GeneRIFs (1121)

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
Chronic infantile neurological, cutaneous and articular syndrome MedGen: C0409818 OMIM: 607115 GeneReviews: Not available	Compare labs
Familial amyloid nephropathy with urticaria AND deafness MedGen: C0268390 OMIM: 191900 GeneReviews: Not available	Compare labs
Familial cold autoinflammatory syndrome 1 MedGen: C4551895 OMIM: 120100 GeneReviews: Not available	Compare labs
Hearing loss, autosomal dominant 34, with or without inflammation MedGen: C4521680 OMIM: 617772 GeneReviews: Not available	Compare labs
Keratitis fugax hereditaria MedGen: C1835697 OMIM: 148200 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study for reading and language abilities in two population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiethnic meta-analysis of genome-wide association studies in &gt;100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	HIV-1 inhibitors T20, NVP, AZT, and raltegravir significantly attenuate HIV-1-induced IL-1B production and NLRP3 activation, suggesting that HIV-1 gp41, RT, and IN are required for pro-IL-1B expression and NLRP3 activation	PubMed
integrase	gag-pol	HIV-1 inhibitors T20, NVP, AZT, and raltegravir significantly attenuate HIV-1-induced IL-1B production and NLRP3 activation, suggesting that HIV-1 gp41, RT, and IN are required for pro-IL-1B expression and NLRP3 activation	PubMed
reverse transcriptase	gag-pol	HIV-1 inhibitors T20, NVP, AZT, and raltegravir significantly attenuate HIV-1-induced IL-1B production and NLRP3 activation, suggesting that HIV-1 gp41, RT, and IN are required for pro-IL-1B expression and NLRP3 activation	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

SHGC-76649 (e-PCR)
- UniSTS:70843

D1S2215 (e-PCR), detects polymorphism
- UniSTS:11979

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables cysteine-type endopeptidase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables molecular condensate scaffold activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidoglycan binding	TAS Traceable Author Statement more info	PubMed
enables phosphatidylinositol phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables signaling adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables small molecule sensor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in NLRP3 inflammasome complex assembly	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 lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response	TAS Traceable Author Statement more info	PubMed
involved_in detection of biotic stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in detection of biotic stimulus	TAS Traceable Author Statement more info	PubMed
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of acute inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of acute inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-1 beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of non-canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of non-canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in osmosensory signaling pathway	NAS Non-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 NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T-helper 2 cell cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T-helper 2 cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of inflammatory response	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	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-1 beta production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-4 production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IPI Inferred from Physical Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of type 2 immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in pyroptosis	NAS Non-traceable Author Statement more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
part_of NLRP3 inflammasome complex	IBA Inferred from Biological aspect of Ancestor more info
part_of NLRP3 inflammasome complex	IDA Inferred from Direct Assay more info	PubMed
part_of NLRP3 inflammasome complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in interphase microtubule organizing center	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microtubule organizing center	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: NACHT, LRR and PYD domains-containing protein 3

Names: NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3; NACHT, LRR and PYD containing protein 3; PYRIN-containing APAF1-like protein 1; caterpiller protein 1.1; cold autoinflammatory syndrome 1 protein; cold-induced autoinflammatory syndrome 1 protein; cryopyrin; cryopyrin, NACHT, LRR and PYD domains - containing protein 3; deafness, autosomal dominant 34; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3

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_007509.2 RefSeqGene

Range

4984..37936

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_197

mRNA and Protein(s)

NM_001079821.3 → NP_001073289.2 NACHT, LRR and PYD domains-containing protein 3 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 6. Both variants 3 and 6 encode the same isoform (e).

Source sequence(s)

AC104335, AF410477, AK314998, AL606804

UniProtKB/TrEMBL

A0A7I2R3P8, A0A7I2YME5

Related

ENSP00000375704.4, ENST00000391828.8

Conserved Domains (7) summary

cd00116
Location:573 → 949

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:8 → 91

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:741 → 769

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:218 → 387

NACHT; NACHT domain

pfam14484
Location:142 → 207

FISNA; Fish-specific NACHT associated domain

pfam17779
Location:464 → 518

NOD2_WH; NOD2 winged helix domain

cl39015
Location:883 → 1029

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_001127461.3 → NP_001120933.2 NACHT, LRR and PYD domains-containing protein 3 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 6. The encoded isoform (c) is shorter than isoform e.

Source sequence(s)

AB208891, AC104335, AK314998

Consensus CDS

CCDS44346.2

UniProtKB/TrEMBL

A0A7I2PMC6, A0A7I2YME5

Related

ENSP00000355452.3, ENST00000366496.7

Conserved Domains (6) summary

cd00116
Location:573 → 977

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:8 → 91

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:741 → 762

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:218 → 387

NACHT; NACHT domain

pfam14484
Location:142 → 207

FISNA; Fish-specific NACHT associated domain

pfam17779
Location:464 → 518

NOD2_WH; NOD2 winged helix domain
NM_001127462.3 → NP_001120934.2 NACHT, LRR and PYD domains-containing protein 3 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame exon in the mid-coding region, compared to variant 6. The encoded isoform (d) is shorter than isoform e.

Source sequence(s)

AC104335, AF410477, AL606804, AY422168

Consensus CDS

CCDS44347.2

UniProtKB/TrEMBL

A0A7I2PRX0, A0A7I2YME5

Related

ENSP00000375703.3, ENST00000391827.3

Conserved Domains (8) summary

smart00368
Location:909 → 936

LRR_RI; Leucine rich repeat, ribonuclease inhibitor type

cd00116
Location:573 → 892

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:8 → 91

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:741 → 769

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:697 → 717

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:218 → 387

NACHT; NACHT domain

pfam14484
Location:142 → 207

FISNA; Fish-specific NACHT associated domain

pfam17779
Location:464 → 518

NOD2_WH; NOD2 winged helix domain
NM_001243133.2 → NP_001230062.1 NACHT, LRR and PYD domains-containing protein 3 isoform e

See identical proteins and their annotated locations for NP_001230062.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) represents the longest transcript and encodes isoform e. Variants 1 and 6 represent the same transcript but use different translation start sites since both sites are likely used. The encoded isoform (e) uses the most conserved translation start site. Both variants 3 and 6 encode the same isoform (e).

Source sequence(s)

AC104335, AF410477, AF427617

Consensus CDS

CCDS1632.2

UniProtKB/TrEMBL

A0A7I2R3P8, A0A7I2YME5

Related

ENSP00000337383.4, ENST00000336119.8

Conserved Domains (7) summary

cd00116
Location:573 → 949

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:8 → 91

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:741 → 769

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:218 → 387

NACHT; NACHT domain

pfam14484
Location:142 → 207

FISNA; Fish-specific NACHT associated domain

pfam17779
Location:464 → 518

NOD2_WH; NOD2 winged helix domain

cl39015
Location:883 → 1029

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_004895.5 → NP_004886.3 NACHT, LRR and PYD domains-containing protein 3 isoform a

See identical proteins and their annotated locations for NP_004886.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the same transcript, but uses an upstream translation start codon, compared to variant 6. Variants 1 and 6 represent the same transcript but use different translation start sites since both sites are likely used. The encoded isoform (a) uses a less conserved upstream translation start codon and has a slightly longer N-terminus, compared to isoform e.

Source sequence(s)

AC104335, AF410477, AF427617

UniProtKB/Swiss-Prot

A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20

UniProtKB/TrEMBL

A0A7I2YME5

Conserved Domains (5) summary

cd00116
Location:575 → 951

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:10 → 93

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:743 → 771

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:220 → 389

NACHT; NACHT domain

pfam14484
Location:144 → 209

FISNA; Fish-specific NACHT associated domain
NM_183395.3 → NP_899632.2 NACHT, LRR and PYD domains-containing protein 3 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks two alternate in-frame exons, which are located in the mid-coding and 3' coding regions, compared to variant 6. The encoded isoform (b) is shorter than isoform e.

Source sequence(s)

AC104335, AF410477, AF427617, AL606804, AY092033

Consensus CDS

CCDS1633.2

UniProtKB/TrEMBL

A0A7I2PJH0, A0A7I2YME5

Related

ENSP00000294752.4, ENST00000348069.7

Conserved Domains (7) summary

cd00116
Location:573 → 920

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:8 → 91

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:741 → 769

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:697 → 717

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:218 → 387

NACHT; NACHT domain

pfam14484
Location:142 → 207

FISNA; Fish-specific NACHT associated domain

pfam17779
Location:464 → 518

NOD2_WH; NOD2 winged helix 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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

247416077..247448817

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047443535.1 → XP_047299491.1 NACHT, LRR and PYD domains-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
XM_024452862.2 → XP_024308630.1 NACHT, LRR and PYD domains-containing protein 3 isoform X4

UniProtKB/TrEMBL

A0A7I2YME5

Conserved Domains (6) summary

cd00116
Location:575 → 922

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:10 → 93

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:743 → 771

LRR_RI; leucine-rich repeat [structural motif]

sd00034
Location:699 → 719

LRR_AMN1; leucine-rich repeat [structural motif]

pfam05729
Location:220 → 389

NACHT; NACHT domain

pfam14484
Location:144 → 209

FISNA; Fish-specific NACHT associated domain
XM_024452874.2 → XP_024308642.1 NACHT, LRR and PYD domains-containing protein 3 isoform X6

UniProtKB/TrEMBL

A0A7I2YME5

Conserved Domains (5) summary

cd00116
Location:575 → 865

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:10 → 93

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:743 → 771

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:220 → 389

NACHT; NACHT domain

pfam14484
Location:144 → 209

FISNA; Fish-specific NACHT associated domain
XM_047443539.1 → XP_047299495.1 NACHT, LRR and PYD domains-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
XM_047443533.1 → XP_047299489.1 NACHT, LRR and PYD domains-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20
XM_047443557.1 → XP_047299513.1 NACHT, LRR and PYD domains-containing protein 3 isoform X3

Conserved Domains (6) summary

cd00116
Location:575 → 979

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:10 → 93

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:743 → 764

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:220 → 389

NACHT; NACHT domain

pfam14484
Location:144 → 210

FISNA; Fish-specific NACHT associated domain

pfam17779
Location:466 → 520

NOD2_WH; NOD2 winged helix domain
XM_047443546.1 → XP_047299502.1 NACHT, LRR and PYD domains-containing protein 3 isoform X2
XM_047443571.1 → XP_047299527.1 NACHT, LRR and PYD domains-containing protein 3 isoform X5
XM_047443578.1 → XP_047299534.1 NACHT, LRR and PYD domains-containing protein 3 isoform X4
XM_047443582.1 → XP_047299538.1 NACHT, LRR and PYD domains-containing protein 3 isoform X6
XM_017000181.2 → XP_016855670.1 NACHT, LRR and PYD domains-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20

UniProtKB/TrEMBL

A0A7I2YME5

Conserved Domains (5) summary

cd00116
Location:575 → 951

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:10 → 93

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:743 → 771

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:220 → 389

NACHT; NACHT domain

pfam14484
Location:144 → 209

FISNA; Fish-specific NACHT associated domain
XM_017000182.2 → XP_016855671.1 NACHT, LRR and PYD domains-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20

UniProtKB/TrEMBL

A0A7I2YME5

Related

ENSP00000513275.1, ENST00000697350.1

Conserved Domains (5) summary

cd00116
Location:575 → 951

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:10 → 93

Pyrin_NALPs; Pyrin death domain found in NALP proteins

sd00033
Location:743 → 771

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:220 → 389

NACHT; NACHT domain

pfam14484
Location:144 → 209

FISNA; Fish-specific NACHT associated domain
XM_047443562.1 → XP_047299518.1 NACHT, LRR and PYD domains-containing protein 3 isoform X2
XM_047443534.1 → XP_047299490.1 NACHT, LRR and PYD domains-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

A0A024R5Q0, B2RC97, B7ZKS9, B7ZKT2, B7ZKT3, O75434, Q17RS2, Q59H68, Q5JQS8, Q5JQS9, Q6TG35, Q8TCW0, Q8TEU9, Q8WXH9, Q96P20