NLRP7 NLR family pyrin domain containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NLRP7provided by HGNC
Official Full Name: NLR family pyrin domain containing 7provided by HGNC
Primary source: HGNC:HGNC:22947
See related: Ensembl:ENSG00000167634 MIM:609661; AllianceGenome:HGNC:22947
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HYDM; PAN7; NALP7; NOD12; PYPAF3; CLR19.4
Summary: This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression: Biased expression in testis (RPKM 2.5), lung (RPKM 0.4) and 7 other tissues See more
Orthologs: all
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Genomic context

Location:: 19q13.42

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (54923515..54966243, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (58017788..58060691, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (55434877..55458873, complement)

Chromosome 19 - NC_000019.10 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?

Gene body hypomethylation of pyroptosis-related genes NLRP7, NLRP2, and NLRP3 facilitate non-invasive surveillance of hepatocellular carcinoma.
Title: Gene body hypomethylation of pyroptosis-related genes NLRP7, NLRP2, and NLRP3 facilitate non-invasive surveillance of hepatocellular carcinoma.
NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.
Title: NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.
NLRP7 Enhances Choriocarcinoma Cell Survival and Camouflage in an Inflammasome Independent Pathway.
Title: NLRP7 Enhances Choriocarcinoma Cell Survival and Camouflage in an Inflammasome Independent Pathway.
Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.
Title: Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.
Title: Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.
[Analysis of three Chinese pedigrees affected with recurrent hydatidiform mole due to variants of NLRP7 gene].
Title: [Analysis of three Chinese pedigrees affected with recurrent hydatidiform mole due to variants of NLRP7 gene].
Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants.
Title: Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants.
NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.
Title: NLRP7 variants in spontaneous abortions with multilocus imprinting disturbances from women with recurrent pregnancy loss.
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
Title: Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.
Title: The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.

Submit: New GeneRIF Correction See all GeneRIFs (74)

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
Hydatidiform mole, recurrent, 1 MedGen: C3463897 OMIM: 231090 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G67808 (e-PCR)
- UniSTS:225583

D19S890 (e-PCR)
- UniSTS:30410

D19S924 (e-PCR), detects polymorphism
- UniSTS:26834

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables aspartic-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables caspase binding	IPI Inferred from Physical Interaction more info	PubMed
enables interleukin-1 binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to interleukin-1	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to lipopolysaccharide	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of cytokine production involved in inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-1 beta production	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of interleukin-1 beta production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein processing	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of inflammatory response	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: NACHT, LRR and PYD domains-containing protein 7

Names: NACHT, LRR and PYD containing protein 7; NACHT, leucine rich repeat and PYD containing 7; PYRIN-containing Apaf1-like protein 3; nucleotide-binding oligomerization domain protein 12; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7

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_008056.2 RefSeqGene

Range

23739..47735

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001127255.2 → NP_001120727.1 NACHT, LRR and PYD domains-containing protein 7 isoform 3

See identical proteins and their annotated locations for NP_001120727.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).

Source sequence(s)

AC011476

Consensus CDS

CCDS46183.1

UniProtKB/TrEMBL

B4DYY2

Related

ENSP00000468706.1, ENST00000592784.6

Conserved Domains (5) summary

COG1100
Location:172 → 256

Gem1; GTPase SAR1 family domain [General function prediction only]

cd00116
Location:730 → 997

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:791 → 814

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:172 → 340

NACHT; NACHT domain
NM_001405531.1 → NP_001392460.1 NACHT, LRR and PYD domains-containing protein 7 isoform 3

Status: VALIDATED

Source sequence(s)

AC011476

Related

ENSP00000467123.1, ENST00000588756.5
NM_139176.4 → NP_631915.2 NACHT, LRR and PYD domains-containing protein 7 isoform 1

See identical proteins and their annotated locations for NP_631915.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 3, resulting in a shorter protein (isoform 1), compared to isoform 3.

Source sequence(s)

AC011476

Consensus CDS

CCDS12912.1

UniProtKB/TrEMBL

A0A0G2JPH3

Related

ENSP00000329568.5, ENST00000328092.9

Conserved Domains (5) summary

COG1100
Location:172 → 256

Gem1; GTPase SAR1 family domain [General function prediction only]

cd00116
Location:702 → 969

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:763 → 786

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:172 → 340

NACHT; NACHT domain
NM_206828.4 → NP_996611.2 NACHT, LRR and PYD domains-containing protein 7 isoform 2

See identical proteins and their annotated locations for NP_996611.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 3, resulting in a shorter protein (isoform 2), compared to isoform 3.

Source sequence(s)

AC011476

Consensus CDS

CCDS33109.1

UniProtKB/Swiss-Prot

E9PE16, Q32MH8, Q7RTR1, Q8WX94

UniProtKB/TrEMBL

A0A0G2JMB6

Related

ENSP00000339491.2, ENST00000340844.6

Conserved Domains (5) summary

COG1100
Location:172 → 256

Gem1; GTPase SAR1 family domain [General function prediction only]

cd00116
Location:751 → 940

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:791 → 814

LRR_RI; leucine-rich repeat [structural motif]

pfam05729
Location:172 → 340

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

54923515..54966243 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438386.1 → XP_047294342.1 NACHT, LRR and PYD domains-containing protein 7 isoform X1

UniProtKB/TrEMBL

K7ERG0

Related

ENSP00000468243.1, ENST00000586379.5

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

826907..869641 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054329669.1 → XP_054185644.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054329667.1 → XP_054185642.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054329670.1 → XP_054185645.1 NACHT, LRR and PYD domains-containing protein 7 isoform X3
XM_054329666.1 → XP_054185641.1 NACHT, LRR and PYD domains-containing protein 7 isoform X2
XM_054329668.1 → XP_054185643.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054329671.1 → XP_054185646.1 NACHT, LRR and PYD domains-containing protein 7 isoform X4

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

Range

568712..611445 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054330148.1 → XP_054186123.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330146.1 → XP_054186121.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330149.1 → XP_054186124.1 NACHT, LRR and PYD domains-containing protein 7 isoform X7
XM_054330145.1 → XP_054186120.1 NACHT, LRR and PYD domains-containing protein 7 isoform X6
XM_054330147.1 → XP_054186122.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330150.1 → XP_054186125.1 NACHT, LRR and PYD domains-containing protein 7 isoform X8

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

Range

903495..946229 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054330461.1 → XP_054186436.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330459.1 → XP_054186434.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330462.1 → XP_054186437.1 NACHT, LRR and PYD domains-containing protein 7 isoform X10
XM_054330458.1 → XP_054186433.1 NACHT, LRR and PYD domains-containing protein 7 isoform X9
XM_054330460.1 → XP_054186435.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330463.1 → XP_054186438.1 NACHT, LRR and PYD domains-containing protein 7 isoform X11

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

Range

931032..973766 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054330714.1 → XP_054186689.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330712.1 → XP_054186687.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330715.1 → XP_054186690.1 NACHT, LRR and PYD domains-containing protein 7 isoform X13
XM_054330711.1 → XP_054186686.1 NACHT, LRR and PYD domains-containing protein 7 isoform X12
XM_054330713.1 → XP_054186688.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330716.1 → XP_054186691.1 NACHT, LRR and PYD domains-containing protein 7 isoform X14

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

Range

905581..948315 complement

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mRNA and Protein(s)

XM_054330945.1 → XP_054186920.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330943.1 → XP_054186918.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330946.1 → XP_054186921.1 NACHT, LRR and PYD domains-containing protein 7 isoform X16
XM_054330942.1 → XP_054186917.1 NACHT, LRR and PYD domains-containing protein 7 isoform X15
XM_054330944.1 → XP_054186919.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054330947.1 → XP_054186922.1 NACHT, LRR and PYD domains-containing protein 7 isoform X17

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

Range

841874..884608 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331223.1 → XP_054187198.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054331221.1 → XP_054187196.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054331224.1 → XP_054187199.1 NACHT, LRR and PYD domains-containing protein 7 isoform X19
XM_054331220.1 → XP_054187195.1 NACHT, LRR and PYD domains-containing protein 7 isoform X18
XM_054331222.1 → XP_054187197.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054331225.1 → XP_054187200.1 NACHT, LRR and PYD domains-containing protein 7 isoform X20

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

Range

827859..868985 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054331493.1 → XP_054187468.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5

UniProtKB/TrEMBL

A0A0G2JNK3
XM_054331495.1 → XP_054187470.1 NACHT, LRR and PYD domains-containing protein 7 isoform X21
XM_054331492.1 → XP_054187467.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5

UniProtKB/TrEMBL

A0A0G2JNK3
XM_054331494.1 → XP_054187469.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5

UniProtKB/TrEMBL

A0A0G2JNK3
XM_054331496.1 → XP_054187471.1 NACHT, LRR and PYD domains-containing protein 7 isoform X22

Reference GRCh38.p14 ALT_REF_LOCI_8

Genomic

NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

Range

635670..678404 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333534.1 → XP_054189509.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054333532.1 → XP_054189507.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054333535.1 → XP_054189510.1 NACHT, LRR and PYD domains-containing protein 7 isoform X24
XM_054333531.1 → XP_054189506.1 NACHT, LRR and PYD domains-containing protein 7 isoform X23
XM_054333533.1 → XP_054189508.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054333536.1 → XP_054189511.1 NACHT, LRR and PYD domains-containing protein 7 isoform X25

Reference GRCh38.p14 ALT_REF_LOCI_9

Genomic

NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

Range

905991..948725 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054333632.1 → XP_054189607.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054333630.1 → XP_054189605.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054333633.1 → XP_054189608.1 NACHT, LRR and PYD domains-containing protein 7 isoform X27
XM_054333629.1 → XP_054189604.1 NACHT, LRR and PYD domains-containing protein 7 isoform X26
XM_054333631.1 → XP_054189606.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054333634.1 → XP_054189609.1 NACHT, LRR and PYD domains-containing protein 7 isoform X28

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

58017788..58060691 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320156.1 → XP_054176131.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054320154.1 → XP_054176129.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054320157.1 → XP_054176132.1 NACHT, LRR and PYD domains-containing protein 7 isoform X30
XM_054320153.1 → XP_054176128.1 NACHT, LRR and PYD domains-containing protein 7 isoform X29
XM_054320155.1 → XP_054176130.1 NACHT, LRR and PYD domains-containing protein 7 isoform X5
XM_054320158.1 → XP_054176133.1 NACHT, LRR and PYD domains-containing protein 7 isoform X31