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Gene

NLRP1

NLR family pyrin domain containing 1

Summary

Cytogenetic location
17p13
Coordinates
Chromosome 17: 5,514,118–5,584,509 (GRCh38)
Exons
17 exons across 70.4 kb
Protein
1,473 amino acids
Also known as
KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1
Previous symbols
NALP1, SLEV1
MANE Select transcript
ENST00000572272.6NM_033004.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Corneal Dystrophies

    • Corneal Dystrophy

      A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.

  • Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita

    • Hereditary palmoplantar keratoderma

      Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.

How NLRP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where NLRP1 sits. NLRP1 and 15 genes near it on chromosome 17, from 5,049,314 to 6,049,313.Chromosome 1717p13p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.35.2 Mb5.4 Mb5.6 Mb5.8 Mb6 MbSLC52A1: 5,032,600–5,052,009, reverse strandSLC52A1ZFP3: 5,078,241–5,096,376, forward strandZFP3ZNF232: 5,105,269–5,123,162, reverse strandZNF232USP6: 5,116,032–5,175,034, forward strandUSP6ZNF594: 5,174,019–5,191,907, reverse strandZNF594SCIMP: 5,208,915–5,234,869, reverse strandSCIMPRABEP1: 5,282,258–5,386,871, forward strandRABEP1NUP88: 5,359,641–5,420,164, reverse strandNUP88RPAIN: 5,419,066–5,432,888, forward strandRPAINC1QBP: 5,432,625–5,448,830, reverse strandC1QBPDHX33: 5,440,917–5,469,031, reverse strandDHX33DERL2: 5,471,254–5,486,817, reverse strandDERL2MIS12: 5,486,285–5,492,080, forward strandMIS12SMIM48: 5,499,427–5,501,013, reverse strandSMIM48NLRP1: 5,514,118–5,584,509, reverse strandNLRP1: 5,772,926–6,080,792, forward strandDiagram of NLRP1: 17 exons on the reverse strand of chromosome 17Exon 13: 1 known disease-causing siteExon 17: 5,514,118–5,515,073, 956 basesExon 16: 5,515,473–5,515,517, 45 basesExon 15: 5,517,746–5,517,887, 142 basesExon 14: 5,520,881–5,521,012, 132 basesExon 13: 5,521,524–5,521,786, 263 basesExon 12: 5,530,481–5,530,704, 224 basesExon 11: 5,532,822–5,532,984, 163 basesExon 10: 5,533,304–5,533,384, 81 basesExon 9: 5,533,897–5,533,988, 92 basesExon 8: 5,536,851–5,536,940, 90 basesExon 7: 5,539,415–5,539,585, 171 basesExon 6: 5,541,857–5,542,027, 171 basesExon 5: 5,553,386–5,553,556, 171 basesExon 4: 5,558,339–5,560,043, 1,705 basesExon 3: 5,581,859–5,582,062, 204 basesExon 2: 5,582,670–5,582,846, 177 basesExon 1: 5,583,687–5,584,509, 823 bases171510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5.6 kb of the gene's 70.4 kb; 4,422 of those bases code for the protein.

How a genome test reads NLRP1

1

position in NLRP1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 70.4 kb of NLRP1, introns included, not only the 5.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NLRP1 gene: NLR family pyrin domain containing 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/nlrp1

Vancouver

Dante Labs. NLRP1 gene: NLR family pyrin domain containing 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nlrp1

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