NLRP5

Protein identityUniProt · HPA

UniProt accession

P59047

Gene

NLRP5

Ensembl

ENSG00000171487

Chromosome

19

Canonical length

1200 aa

Protein class

Disease related genes, Predicted intracellular proteins

Subcellular location

Golgi apparatus,Vesicles

OverviewNCBI Gene

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1200 residues, UniProt reviewed canonical sequence.

>P59047|NLRP5
     1  MKVAGGLELG AAALLSASPR ALVTLSTGPT CSILPKNPLF PQNLSSQPCI KMEGDKSLTF
    61  SSYGLQWCLY ELDKEEFQTF KELLKKKSSE STTCSIPQFE IENANVECLA LLLHEYYGAS
   121  LAWATSISIF ENMNLRTLSE KARDDMKRHS PEDPEATMTD QGPSKEKVPG ISQAVQQDSA
   181  TAAETKEQEI SQAMEQEGAT AAETEEQEIS QAMEQEGATA AETEEQGHGG DTWDYKSHVM
   241  TKFAEEEDVR RSFENTAADW PEMQTLAGAF DSDRWGFRPR TVVLHGKSGI GKSALARRIV
   301  LCWAQGGLYQ GMFSYVFFLP VREMQRKKES SVTEFISREW PDSQAPVTEI MSRPERLLFI
   361  IDGFDDLGSV LNNDTKLCKD WAEKQPPFTL IRSLLRKVLL PESFLIVTVR DVGTEKLKSE
   421  VVSPRYLLVR GISGEQRIHL LLERGIGEHQ KTQGLRAIMN NRELLDQCQV PAVGSLICVA
   481  LQLQDVVGES VAPFNQTLTG LHAAFVFHQL TPRGVVRRCL NLEERVVLKR FCRMAVEGVW
   541  NRKSVFDGDD LMVQGLGESE LRALFHMNIL LPDSHCEEYY TFFHLSLQDF CAALYYVLEG
   601  LEIEPALCPL YVEKTKRSME LKQAGFHIHS LWMKRFLFGL VSEDVRRPLE VLLGCPVPLG
   661  VKQKLLHWVS LLGQQPNATT PGDTLDAFHC LFETQDKEFV RLALNSFQEV WLPINQNLDL
   721  IASSFCLQHC PYLRKIRVDV KGIFPRDESA EACPVVPLWM RDKTLIEEQW EDFCSMLGTH
   781  PHLRQLDLGS SILTERAMKT LCAKLRHPTC KIQTLMFRNA QITPGVQHLW RIVMANRNLR
   841  SLNLGGTHLK EEDVRMACEA LKHPKCLLES LRLDCCGLTH ACYLKISQIL TTSPSLKSLS
   901  LAGNKVTDQG VMPLSDALRV SQCALQKLIL EDCGITATGC QSLASALVSN RSLTHLCLSN
   961  NSLGNEGVNL LCRSMRLPHC SLQRLMLNQC HLDTAGCGFL ALALMGNSWL THLSLSMNPV
  1021  EDNGVKLLCE VMREPSCHLQ DLELVKCHLT AACCESLSCV ISRSRHLKSL DLTDNALGDG
  1081  GVAALCEGLK QKNSVLARLG LKACGLTSDC CEALSLALSC NRHLTSLNLV QNNFSPKGMM
  1141  KLCSAFACPT SNLQIIGLWK WQYPVQIRKL LEEVQLLKPR VVIDGSWHSF DEDDRYWWKN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NLRP5 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)

0.29

Highest tissue expression

21 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NLRP5.

Disease | AllUniProt

Conditions NLRP5 is implicated in, by any mechanism.

• Oocyte/zygote/embryo maturation arrest 19 (OZEMA19) MIM:620333

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 392 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Oocyte/zygote/embryo maturation arrest 19
• Inherited oocyte maturation defect
• Preimplantation lethality

Disease | AutoantibodyPubMed

Conditions in which antibodies against NLRP5 are reported. Each links to that disease's full target list.

• Polyendocrinopathies, Autoimmune 4

ReferencesPubMed · IEDB

Publications for NLRP5 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.8

gnomAD pLI

0

gnomAD missense Z

-2.21

DepMap mean gene effect

0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actin filament organization
• cortical granule exocytosis
• establishment of organelle localization
• establishment of spindle localization
• exocytosis
• positive regulation of embryonic development
• protein storage
• regulation of cell division
• regulation of inflammatory response
• regulation of protein localization

Molecular functions

• ATP binding
• structural constituent of cytoplasmic lattice
• tubulin binding

Cellular components

• cell cortex
• cortical granule
• cytoplasm
• cytoplasmic lattice
• cytosol
• Golgi apparatus
• mitochondrion
• nucleolus
• nucleus
• subcortical maternal complex

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
• Cytoplasm
• Cytoplasmic vesicle
• Golgi apparatus
• Leucine-rich repeat
• Mitochondrion
• Nucleotide-binding
• Nucleus
• Repeat

InteractionsUniProt · HPA

Protein binding partners of NLRP5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• KHDC3L
• OOEP
• PRKCE
• TLE6
• TUBB3