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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NLRP7 Gene

protein-coding GIFtS: 59
GCID: GC19M055434

NLR family, pyrin domain containing 7

(Previous names: NACHT, leucine rich repeat and PYD containing 7 )
(Previous symbol: NALP7)

Explore 8 diseases affiliated with
NLRP7 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
NLR Family, Pyrin Domain Containing 7¹ ²		Nucleotide-Binding Oligomerization Domain Protein 12² ³
NALP7¹ ² ³ ⁵		PYRIN-Containing APAF1-Like Protein 3² ³
NOD12¹ ² ³ ⁵		HYDM² ⁵
PYPAF3¹ ² ³ ⁵		NACHT, LRR And PYD Containing Protein 7²
CLR19.4¹ ²		NACHT, LRR And PYD Domains-Containing Protein 7²
PAN7¹ ²		Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 7²
NACHT, Leucine Rich Repeat And PYD Containing 7¹ ²

External Ids:	HGNC: 22947¹	Entrez Gene: 199713²	Ensembl: ENSG00000167634⁷	OMIM: 609661⁵	UniProtKB: Q8WX94³

Export aliases for NLRP7 gene to outside databases

Previous GC identifers: GC19M060127 GC19M051757

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NLRP7:

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)

UniProtKB/Swiss-Prot: NALP7_HUMAN, Q8WX94

Function: Inhibits CASP1/caspase-1-dependent IL1B secretion

Gene Wiki entry for NLRP7

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NLRP7 gene promoter:
AP-1 ATF-2 c-Jun NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NLRP7 promoter sequence

Search SABiosciences Chromatin IP Primers for NLRP7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NLRP7

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.42 Ensembl cytogenetic band: 19q13.42 HGNC cytogenetic band: 19q13.42

NLRP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP7 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M055434: view genomic region (about GC identifiers)

Start:	55,434,877 bp from pter	End:	55,477,680 bp from pter
Size:	42,804 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NALP7_HUMAN, Q8WX94 (See protein sequence)

Recommended Name: NACHT, LRR and PYD domains-containing protein 7

Size: 980 amino acids; 111807 Da

Subunit: Directly interacts with CASP1 and IL1B

1 PDB 3D structure from and Proteopedia for NLRP7:

2KM6 (3D)

Secondary accessions: E9PE16 Q32MH8 Q7RTR1

Alternative splicing: 3 isoforms: Q8WX94-1 Q8WX94-2 Q8WX94-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NLRP7: NX_Q8WX94

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WX94

NLRP7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001120727.1 NP_631915.2 NP_996611.2

ENSEMBL proteins:

ENSP00000329568 ENSP00000465520 ENSP00000467123 ENSP00000468243 ENSP00000468706

ENSP00000468161 ENSP00000467234 ENSP00000467589 ENSP00000414273 ENSP00000409137

ENSP00000339491

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NLRP7 for domains About GeneDecksing

3 InterPro domains/families:

IPR007111 NACHT_NTPase

IPR004020 DAPIN

IPR011029 DEATH-like_dom

Graphical View of Domain Structure for InterPro Entry Q8WX94

ProtoNet protein and cluster: Q8WX94

1 Blocks protein family: IPB004020 Pyrin domain

UniProtKB/Swiss-Prot: NALP7_HUMAN, Q8WX94

Similarity: Belongs to the NLRP family

Similarity: Contains 1 DAPIN domain

Similarity: Contains 9 LRR (leucine-rich) repeats

Similarity: Contains 1 NACHT domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NALP7_HUMAN, Q8WX94

Function: Inhibits CASP1/caspase-1-dependent IL1B secretion

Induction: By bacterial lipopolysaccharides (LPS) and IL1B/interleukin-1 beta in peripheral blood mononuclear cells

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005524	ATP binding	IEA	--

NLRP7 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for NLRP7:

Increased gamma-H2AX phosphory

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways

NOD pathway

0.23

1 BioSystems Pathway for NLRP7

NOD pathway

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NLRP7

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

4 Interacting proteins for NLRP7 (Q8WX94³ ENSP00000329568⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CASP1	P29466³	I2D: score=1
FAF1	Q9UNN5³	I2D: score=1
IL1B	P01584³	I2D: score=1
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for NLRP7 gene (3 alternative transcripts):

NM_001127255.1 NM_139176.3 NM_206828.3

Unigene Cluster for NLRP7:

NLR family, pyrin domain containing 7

Hs.351118 [show with all ESTs]

Unigene Representative Sequence: AK302655

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000328092(uc002qii.4 uc010esk.3) ENST00000590030 ENST00000588756

ENST00000586379 ENST00000592784 ENST00000587844 ENST00000587103 ENST00000590659

ENST00000446217(uc010esl.3) ENST00000448121(uc002qig.4) ENST00000340844(uc002qih.4)

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Additional cDNA sequence:

AF464765.1 AK298630.1 AK302655.1 AK313964.1 AY154462.1 BC109124.2 BC109125.1

5 DOTS entries:

DT.91723045 DT.100686115 DT.91716314 DT.97838651 DT.95285740

24/42 AceView cDNA sequences (see all 42):

BQ066740 BQ065843 BX356996 BK001113 CR607466 AI360576 NM_139176 NM_206828

BQ642431 AY154462 BQ061119 BI828545 BQ058731 BQ059434 CR594199 BX363945

AA991648 BQ058852 AA558585 AF464765 BQ065714 BX646340 CD051200 BQ642323

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for NLRP7 (see all 6) About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	·	4c	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10a	·	10b	^	11a	·	11b	·	11c
SP1:
SP2:																									-
SP3:													-
SP4:																									-		-
SP5:

ECgene alternative splicing isoforms for NLRP7

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NLRP7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACGCTATGTA

About this image

NLRP7 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NLRP7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NLRP7

SOURCE GeneReport for Unigene cluster: Hs.351118

UniProtKB/Swiss-Prot: NALP7_HUMAN, Q8WX94

Tissue specificity: Expressed in numerous tissues including uterus and ovary, with low levels in heart and brain. Not

detected in skeletal muscle

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for NLRP7 gene from 2/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	NLRP6⁶ --	--	28(a) 23(a)	1 ↔ many possible ortholog	GL343482.1(99797-112078) GL343281.1(869690-874415)
zebrafish (Danio rerio)	Actinopterygii	si:ch211-213a13.2⁶ si:ch211-213a13.5⁶ (see all 220)	si:ch211-213a13.5 (see all 220)	7(a) 7(a) (see all 220)	many ↔ many many ↔ many (see all 220)	22(8948738-8996350) 22(9090823-9139153)

ENSEMBL Gene Tree for NLRP7 (if available)
TreeFam Gene Tree for NLRP7 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NLRP7 gene

NLRP13² NLRP4² NLRP9² NLRP6² NLRP3² NLRP14² NLRP11² NLRP10²

NLRP2² NLRP5² NLRP1² NLRP8² NLRP12²

13 SIMAP similar genes for NLRP7 using alignment to 7 protein entries: NALP7_HUMAN (see all proteins):

PYDC2 NLRP2 PP1579 CIAS1 RNH1 NLRP14

NLRP8 NLRP4 NLRP9 NLRP3 NLRP5 NLRP12

NLRP13

NLRP7 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for NLRP7
PGOHUM00000241546

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104895548^1,2	C	pathogenic	52758249(-)	`TTTCCG/TCTGCA`	6	R L	mis¹		0	--	--	--	--
rs104895530^1,2	C	pathogenic	52758350(-)	`TCCACC/TGAGAG`	6	R *	stg¹		0	--	--	--	--
rs104895549^1,2	C	pathogenic	52759653(-)	`CCATTC/TCGAAC`	5	P S	int¹ mis¹		0	--	--	--	--
rs104895506^1,2	C	pathogenic	52759779(-)	`CTGTGC/TGGATT`	6	R W	mis¹		1		NA	4552
rs104895502^1,2	C	pathogenic	52759780(-)	`TGTGCA/C/GGATTC`	9	Q P R	mis¹		0	--	--	--	--
rs104895503^1,2	C,F,	pathogenic	52767246(-)	`TATCAA/GCCAGA`	6	N S	mis¹		1		NA	4550
rs104895519^1,2	C,	untested	52755698(-)	`CCGGGC/TTCACA`	3	--	int¹		0	--	--	--	--
rs104895509^1,2	C,	untested	52756414(-)	`ATTGTG/ATAAGA`	6	/Y /C	mis¹		1		NA	4550
rs8106278^1,2	C,F,	untested	52757193(+)	`cattaG/Cctggg`	3	--	int¹		2		NA CSA	4
rs8106927^1,2	C,	untested	52757231(+)	`caagaC/Tagtga`	3	--	int¹		1		CSA	2

HapMap Linkage Disequilibrium report for NLRP7 (55434877 - 55477680 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for NLRP7
2 CNVs: 4088 32274
Human Gene Mutation Database (HGMD): NLRP7

Locus Specific Mutation Databases (LSDB): NLRP7

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NLRP7

DNA2.0 Custom Variant and Variant Library Synthesis for NLRP7

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NLRP7 for disorders           About GeneDecksing

OMIM gene information: 609661
OMIM disorders: 231090
UniProtKB/Swiss-Prot: NALP7_HUMAN, Q8WX94

Defects in NLRP7 are the cause of hydatidiform mole recurrent type 1 (HYDM1) [MIM:231090]. A disorder

characterized by excessive trophoblast development and the presence of a growing mass of tissue inside the uterus at

the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the

chorionic villi

8 diseases for NLRP7: About MalaCards

hydatidiform mole, recurrent gestational trophoblastic neoplasm trophoblastic neoplasm seminoma

embryonal carcinoma crohn's disease endometrial cancer carcinoma

1 disease from the University of Copenhagen DISEASES database for NLRP7:

Gestational trophoblastic neoplasm

3 Novoseek disease relationships for NLRP7 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
seminoma	74.2	3	15596043 (3)
carcinoma embryonal	68.1	2	15994931 (1), 15596043 (1)
tumors	4.65	2	15596043 (1)

Human Genome Epidemiology (HuGE) Navigator: NLRP7 (2 documents)

Export disorders for NLRP7 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NLRP7 gene, integrated from 9 sources (see all 39):
(articles sorted by number of sources associating them with NLRP7)

Utopia: connect your pdf to the dynamic
world of online information

NALPs: a novel protein family involved in inflammation. (PubMed id 12563287)^{1, 2, 3} Tschopp J....Burns K. (2003)
PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing. (PubMed id 12019269)^{1, 2, 3} Wang L.... Bertin J. (2002)
PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion. (PubMed id 15817483)^{1, 2, 9} Kinoshita T.... Suda T. (2005)
Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. (PubMed id 19246479)^{1, 2} Wang C.M.... Fisher R.A. (2009)
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. (PubMed id 16462743)^{1, 2} Murdoch S....Slim R. (2006)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)^{1, 2} Grimwood J.... Lucas S.M. (2004)
NODs: intracellular proteins involved in inflammation and apoptosis. (PubMed id 12766759)^{1, 2} Inohara N. and Nunez G. (2003)
Oncogenic role of NALP7 in testicular seminomas. (PubMed id 15596043)^{1, 9} Okada K....Katagiri T. (2004)
Expression of NLRP7 (PYPAF3, NALP7) protein in endometrial cancer tissues. (PubMed id 18751440)^{1, 9} Ohno S....Suda T. (2008)
Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1. (PubMed id 12387869)^{1, 9} Grenier J.M.... Bertin J. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 199713	HGNC: 22947	AceView: NALP7	Ensembl:ENSG00000167634	euGenes: HUgn199713
ECgene: NLRP7	H-InvDB: NLRP7

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NLRP7	Pharmacogenomics, SNPs, Pathways
INFEVERS	http://fmf.igh.cnrs.fr/ISSAID/infevers/search.php?n=8

Intellectual Property for NLRP7 gene
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Patent Information for NLRP7 gene:
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NLR family, pyrin domain containing 7

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NLR family, pyrin domain containing 7

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