NLRP7

Protein identityUniProt · HPA

UniProt accession

Q8WX94

Gene

NLRP7

Ensembl

ENSG00000167634

Chromosome

19

Canonical length

980 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Golgi apparatus

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

980 residues, UniProt reviewed canonical sequence.

>Q8WX94|NLRP7
     1  MTSPQLEWTL QTLLEQLNED ELKSFKSLLW AFPLEDVLQK TPWSEVEEAD GKKLAEILVN
    61  TSSENWIRNA TVNILEEMNL TELCKMAKAE MMEDGQVQEI DNPELGDAEE DSELAKPGEK
   121  EGWRNSMEKQ SLVWKNTFWQ GDIDNFHDDV TLRNQRFIPF LNPRTPRKLT PYTVVLHGPA
   181  GVGKTTLAKK CMLDWTDCNL SPTLRYAFYL SCKELSRMGP CSFAELISKD WPELQDDIPS
   241  ILAQAQRILF VVDGLDELKV PPGALIQDIC GDWEKKKPVP VLLGSLLKRK MLPRAALLVT
   301  TRPRALRDLQ LLAQQPIYVR VEGFLEEDRR AYFLRHFGDE DQAMRAFELM RSNAALFQLG
   361  SAPAVCWIVC TTLKLQMEKG EDPVPTCLTR TGLFLRFLCS RFPQGAQLRG ALRTLSLLAA
   421  QGLWAQMSVF HREDLERLGV QESDLRLFLD GDILRQDRVS KGCYSFIHLS FQQFLTALFY
   481  ALEKEEGEDR DGHAWDIGDV QKLLSGEERL KNPDLIQVGH FLFGLANEKR AKELEATFGC
   541  RMSPDIKQEL LQCKAHLHAN KPLSVTDLKE VLGCLYESQE EELAKVVVAP FKEISIHLTN
   601  TSEVMHCSFS LKHCQDLQKL SLQVAKGVFL ENYMDFELDI EFERCTYLTI PNWARQDLRS
   661  LRLWTDFCSL FSSNSNLKFL EVKQSFLSDS SVRILCDHVT RSTCHLQKVE IKNVTPDTAY
   721  RDFCLAFIGK KTLTHLTLAG HIEWERTMML MLCDLLRNHK CNLQYLRLGG HCATPEQWAE
   781  FFYVLKANQS LKHLRLSANV LLDEGAMLLY KTMTRPKHFL QMLSLENCRL TEASCKDLAA
   841  VLVVSKKLTH LCLAKNPIGD TGVKFLCEGL SYPDCKLQTL VLQQCSITKL GCRYLSEALQ
   901  EACSLTNLDL SINQIARGLW ILCQALENPN CNLKHLRLKT YETNLEIKKL LEEVKEKNPK
   961  LTIDCNASGA TAPPCCDFFC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NLRP7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

3.7 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NLRP7.

Disease | AllUniProt

Conditions NLRP7 is implicated in, by any mechanism.

• Hydatidiform mole, recurrent, 1 (HYDM1) MIM:231090

Disease | GeneticClinVar

26 pathogenic / likely-pathogenic of 403 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hydatidiform mole, recurrent, 1
• Oocyte/zygote/embryo maturation arrest 25
• Hydatidiform mole
• Gastric cancer
• NLRP7-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.02

gnomAD pLI

0

gnomAD missense Z

-0.51

DepMap mean gene effect

0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to interleukin-1
• cellular response to lipopolysaccharide
• negative regulation of cytokine production involved in inflammatory response
• negative regulation of interleukin-1 beta production
• negative regulation of protein processing
• regulation of inflammatory response

Molecular functions

• aspartic-type endopeptidase inhibitor activity
• ATP binding
• caspase binding
• identical protein binding
• interleukin-1 binding

Cellular components

• cytoplasm

Protein domainsUniProt · Pfam · InterPro

• Leucine-rich repeat
• DAPIN domain
• NACHT nucleoside triphosphatase
• Death-like domain superfamily
• P-loop containing nucleoside triphosphate hydrolase
• Leucine-rich repeat domain superfamily
• NOD1/2, winged helix domain
• NACHT, LRR and PYD domains-containing protein, helical domain HD2
• NLRP family, innate immunity and inflammation regulators
• PAAD/DAPIN/Pyrin domain
• NACHT domain
• Leucine Rich repeat
• NLRC4 helical domain HD2
• NOD2 winged helix domain

KeywordsUniProt

• ATP-binding
• Leucine-rich repeat
• Nucleotide-binding
• Repeat

InteractionsUniProt · HPA

Protein binding partners of NLRP7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CASP1
• IL1B