NLRP7

NLRP7

Available structures

Human UniProt search: PDBe RCSB

List of PDB id codes
2KM6

Identifiers

Aliases

NLRP7, CLR19.4, HYDM, NALP7, NOD12, PAN7, PYPAF3, NLR family, pyrin domain containing 7, NLR family pyrin domain containing 7

External IDs

OMIM: 609661 HomoloGene: 51401 GeneCards: NLRP7

Gene location (Human)

Chr.	Chromosome 19 (human)^[1]

Band	19q13.42	Start	54,923,509 bp^[1]
Band	19q13.42	End	54,966,312 bp^[1]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

testicle

blood

duodenum

appendix

lymph node

spleen

monocyte

placenta

rectum

bone marrow

n/a

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	ATP binding nucleotide binding aspartic-type endopeptidase inhibitor activity interleukin-1 binding caspase binding
Cellular component	cellular component
Biological process	negative regulation of endopeptidase activity negative regulation of protein processing cellular response to lipopolysaccharide cellular response to interleukin-1 negative regulation of cytokine production involved in inflammatory response negative regulation of aspartic-type peptidase activity
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


199713


n/a

Ensembl

ENSG00000276804 ENSG00000167634 ENSG00000278173 ENSG00000277179 ENSG00000274174
ENSG00000277776 ENSG00000277786 ENSG00000275483 ENSG00000277071 ENSG00000274571


n/a

UniProt


Q8WX94


n/a

RefSeq (mRNA)


NM_001127255 NM_139176 NM_206828 NM_001405531


n/a

RefSeq (protein)


NP_001120727 NP_631915 NP_996611


n/a

Location (UCSC)

Chr 19: 54.92 – 54.97 Mb

n/a

PubMed search

^[2]

n/a

Wikidata

View/Edit Human

NACHT, LRR and PYD domains-containing protein 7 is a protein that in humans is encoded by the NLRP7 gene.^[3]^[4]^[5]

Function

NALPs are cytoplasmic proteins that form a subfamily within the larger CATERPILLER protein family. Most short NALPs, such as NALP7, have an N-terminal pyrin (MEFV) domain (PYD), followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NALPs are implicated in the activation of proinflammatory caspases (e.g., CASP1) via their involvement in multiprotein complexes called inflammasomes.^[5]

References

^ ^a ^b ^c ENSG00000167634, ENSG00000278173, ENSG00000277179, ENSG00000274174, ENSG00000277776, ENSG00000277786, ENSG00000275483, ENSG00000277071, ENSG00000274571 GRCh38: Ensembl release 89: ENSG00000276804, ENSG00000167634, ENSG00000278173, ENSG00000277179, ENSG00000274174, ENSG00000277776, ENSG00000277786, ENSG00000275483, ENSG00000277071, ENSG00000274571 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Tschopp J, Martinon F, Burns K (Feb 2003). "NALPs: a novel protein family involved in inflammation". Nat Rev Mol Cell Biol. 4 (2): 95–104. doi:10.1038/nrm1019. PMID 12563287. S2CID 31417018.
^ Wang L, Manji GA, Grenier JM, Al-Garawi A, Merriam S, Lora JM, Geddes BJ, Briskin M, DiStefano PS, Bertin J (Aug 2002). "PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing". J Biol Chem. 277 (33): 29874–80. doi:10.1074/jbc.M203915200. PMID 12019269.
^ ^a ^b "Entrez Gene: NLRP7 NLR family, pyrin domain containing 7".

Inohara N, Nuñez G (2003). "NODs: intracellular proteins involved in inflammation and apoptosis". Nat. Rev. Immunol. 3 (5): 371–82. doi:10.1038/nri1086. PMID 12766759. S2CID 8088987.
Moglabey YB, Kircheisen R, Seoud M, et al. (1999). "Genetic mapping of a maternal locus responsible for familial hydatidiform moles". Hum. Mol. Genet. 8 (4): 667–71. doi:10.1093/hmg/8.4.667. PMID 10072436.
Grenier JM, Wang L, Manji GA, et al. (2002). "Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1". FEBS Lett. 530 (1–3): 73–8. doi:10.1016/S0014-5793(02)03416-6. PMID 12387869. S2CID 25023390.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. Bibcode:2004Natur.428..529G. doi:10.1038/nature02399. PMID 15057824.
Okada K, Hirota E, Mizutani Y, et al. (2005). "Oncogenic role of NALP7 in testicular seminomas". Cancer Sci. 95 (12): 949–54. doi:10.1111/j.1349-7006.2004.tb03182.x. PMID 15596043. S2CID 13403889.
Kinoshita T, Wang Y, Hasegawa M, et al. (2005). "PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion". J. Biol. Chem. 280 (23): 21720–5. doi:10.1074/jbc.M410057200. PMID 15817483.
Murdoch S, Djuric U, Mazhar B, et al. (2006). "Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans". Nat. Genet. 38 (3): 300–2. doi:10.1038/ng1740. PMID 16462743. S2CID 28580007.
Bestor TH, Bourc'his D (2006). "Genetics and epigenetics of hydatidiform moles". Nat. Genet. 38 (3): 274–6. doi:10.1038/ng0306-274. PMID 16501554. S2CID 22981053.
Djuric U, El-Maarri O, Lamb B, et al. (2007). "Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation". Hum. Genet. 120 (3): 390–5. doi:10.1007/s00439-006-0192-3. PMID 16874523. S2CID 10117000.
Qian J, Deveault C, Bagga R, et al. (2007). "Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations". Hum. Mutat. 28 (7): 741. doi:10.1002/humu.9498. PMID 17579354. S2CID 43136262.

v t e NOD-like receptor family
CARD domain containing	NOD1/NLRC1 NOD2/NLRC2 NLRC3 NLRC4 NLRC5
Pyrin domain containing	NLRP1 NLRP2 NLRP3 NLRP4 NLRP5 NLRP6 NLRP7 NLRP8 NLRP9 NLRP10 NLRP11 NLRP12 NLRP13 NLRP14
Apoptosis inhibitory protein	NAIP
Family member X1	NLRX1

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This page was last edited on 29 January 2023, at 23:18

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Function

References

Further reading