Seroatlas · Human Serome Atlas

NLRP1

NACHT, LRR and PYD domains-containing protein 1

Also known as: CARD7, CLR17.1, DEFCAP, DKFZp586O1822, KIAA0926, NAC, NALP1, NLRP1_HUMAN, SLEV1, VAMAS1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9C000
Gene: NLRP1
Ensembl: ENSG00000091592
Chromosome: 17
Canonical length: 1473 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1473 residues, UniProt reviewed canonical sequence.

>Q9C000|NLRP1
     1  MAGGAWGRLA CYLEFLKKEE LKEFQLLLAN KAHSRSSSGE TPAQPEKTSG MEVASYLVAQ
    61  YGEQRAWDLA LHTWEQMGLR SLCAQAQEGA GHSPSFPYSP SEPHLGSPSQ PTSTAVLMPW
   121  IHELPAGCTQ GSERRVLRQL PDTSGRRWRE ISASLLYQAL PSSPDHESPS QESPNAPTST
   181  AVLGSWGSPP QPSLAPREQE APGTQWPLDE TSGIYYTEIR EREREKSEKG RPPWAAVVGT
   241  PPQAHTSLQP HHHPWEPSVR ESLCSTWPWK NEDFNQKFTQ LLLLQRPHPR SQDPLVKRSW
   301  PDYVEENRGH LIEIRDLFGP GLDTQEPRIV ILQGAAGIGK STLARQVKEA WGRGQLYGDR
   361  FQHVFYFSCR ELAQSKVVSL AELIGKDGTA TPAPIRQILS RPERLLFILD GVDEPGWVLQ
   421  EPSSELCLHW SQPQPADALL GSLLGKTILP EASFLITART TALQNLIPSL EQARWVEVLG
   481  FSESSRKEYF YRYFTDERQA IRAFRLVKSN KELWALCLVP WVSWLACTCL MQQMKRKEKL
   541  TLTSKTTTTL CLHYLAQALQ AQPLGPQLRD LCSLAAEGIW QKKTLFSPDD LRKHGLDGAI
   601  ISTFLKMGIL QEHPIPLSYS FIHLCFQEFF AAMSYVLEDE KGRGKHSNCI IDLEKTLEAY
   661  GIHGLFGAST TRFLLGLLSD EGEREMENIF HCRLSQGRNL MQWVPSLQLL LQPHSLESLH
   721  CLYETRNKTF LTQVMAHFEE MGMCVETDME LLVCTFCIKF SRHVKKLQLI EGRQHRSTWS
   781  PTMVVLFRWV PVTDAYWQIL FSVLKVTRNL KELDLSGNSL SHSAVKSLCK TLRRPRCLLE
   841  TLRLAGCGLT AEDCKDLAFG LRANQTLTEL DLSFNVLTDA GAKHLCQRLR QPSCKLQRLQ
   901  LVSCGLTSDC CQDLASVLSA SPSLKELDLQ QNNLDDVGVR LLCEGLRHPA CKLIRLGLDQ
   961  TTLSDEMRQE LRALEQEKPQ LLIFSRRKPS VMTPTEGLDT GEMSNSTSSL KRQRLGSERA
  1021  ASHVAQANLK LLDVSKIFPI AEIAEESSPE VVPVELLCVP SPASQGDLHT KPLGTDDDFW
  1081  GPTGPVATEV VDKEKNLYRV HFPVAGSYRW PNTGLCFVMR EAVTVEIEFC VWDQFLGEIN
  1141  PQHSWMVAGP LLDIKAEPGA VEAVHLPHFV ALQGGHVDTS LFQMAHFKEE GMLLEKPARV
  1201  ELHHIVLENP SFSPLGVLLK MIHNALRFIP VTSVVLLYHR VHPEEVTFHL YLIPSDCSIR
  1261  KAIDDLEMKF QFVRIHKPPP LTPLYMGCRY TVSGSGSGML EILPKELELC YRSPGEDQLF
  1321  SEFYVGHLGS GIRLQVKDKK DETLVWEALV KPGDLMPATT LIPPARIAVP SPLDAPQLLH
  1381  FVDQYREQLI ARVTSVEVVL DKLHGQVLSQ EQYERVLAEN TRPSQMRKLF SLSQSWDRKC
  1441  KDGLYQALKE THPHLIMELW EKGSKKGLLP LSS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NLRP1 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): 0.34
Highest tissue expression: 46 nTPM

Expression across tissuesHPA

Tissue

spleen: 46 nTPM
choroid plexus: 45 nTPM
skin: 37 nTPM
lymph node: 27 nTPM
bone marrow: 23 nTPM
tonsil: 23 nTPM

Single-cell type

neutrophils: 411 nCPM
early primary spermatocytes: 236 nCPM
microglia: 184 nCPM
nk-cells: 165 nCPM
differentiating spermatogonia: 161 nCPM
t-cells: 157 nCPM

Immune cell

basophil: 33 nTPM
neutrophil: 28 nTPM
non-classical monocyte: 9.3 nTPM
NK-cell: 8 nTPM
eosinophil: 7.4 nTPM
classical monocyte: 7.1 nTPM

Brain region

cerebral cortex: 68 nTPM
white matter: 10 nTPM
medulla oblongata: 9.6 nTPM
midbrain: 9.3 nTPM
pons: 9.2 nTPM
spinal cord: 9.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NLRP1.

Disease | AllUniProt

Conditions NLRP1 is implicated in, by any mechanism.

Vitiligo-associated multiple autoimmune disease 1 (VAMAS1) MIM:606579
Palmoplantar carcinoma, multiple self-healing (MSPC) MIM:615225
Autoinflammation with arthritis and dyskeratosis (AIADK) MIM:617388
Respiratory papillomatosis, juvenile recurrent, congenital (JRRP) MIM:618803

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 1,260 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Autoinflammation with arthritis and dyskeratosis
Respiratory papillomatosis, juvenile recurrent, congenital

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): 0.84
gnomAD pLI: 0
gnomAD missense Z: 1.49
DepMap mean gene effect: 0.04
DepMap dependency class: none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NLRP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NLRP1 as an antibody target. Whether an autoantibody or antibody against NLRP1 could matter depends on whether native NLRP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NLRP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NLRP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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