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Gene

NMNAT1

nicotinamide nucleotide adenylyltransferase 1

Summary

Cytogenetic location
1p36.22
Coordinates
Chromosome 1: 9,943,475–9,985,498 (GRCh38)
Exons
5 exons across 42 kb
Protein
279 amino acids
Inheritance
Autosomal recessive
Also known as
NMNAT, PNAT1
Previous symbols
LCA9
MANE Select transcript
ENST00000377205.6NM_022787.4
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 report relevant to this gene

  • Leber Congenital Amaurosis & RPE65-Related Retinopathy

    • Leber Congenital AmaurosisAutosomal recessive

      A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.

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

      Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How NMNAT1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where NMNAT1 sits. NMNAT1 and 14 genes near it on chromosome 1, from 9,464,487 to 10,464,486.Chromosome 11p36.22p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q449.6 Mb9.8 Mb10 Mb10.2 Mb10.4 MbSLC25A33: 9,539,437–9,585,173, forward strandSLC25A33TMEM201: 9,588,718–9,614,879, forward strandTMEM201PIK3CD: 9,629,889–9,730,119, forward strandPIK3CDCLSTN1: 9,728,911–9,823,993, reverse strandCLSTN1CTNNBIP1: 9,848,269–9,910,378, reverse strandCTNNBIP1LZIC: 9,922,113–9,943,407, reverse strandLZICNMNAT1: 9,943,475–9,985,498, forward strandNMNAT1RBP7: 9,997,050–10,016,022, forward strandRBP7UBE4B: 10,032,832–10,181,244, forward strandUBE4BKIF1B: 10,210,481–10,381,606, forward strandKIF1BPGD: 10,398,592–10,420,511, forward strandPGDCENPS-CORT: 10,430,102–10,452,153, forward strandCENPS-CORTCENPS: 10,430,390–10,442,813, forward strandCENPSCORT: 10,450,010–10,452,083, forward strandCORTDFFA: 10,456,522–10,472,582, reverse strandDFFADiagram of NMNAT1: 5 exons on the forward strand of chromosome 1Exon 2: 4 known disease-causing sitesExon 3: 9 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 19 known disease-causing sitesExon 1: 9,943,475–9,943,515, 41 basesExon 2: 9,972,018–9,972,188, 171 basesExon 3: 9,975,592–9,975,775, 184 basesExon 4: 9,981,031–9,981,170, 140 basesExon 5: 9,982,301–9,985,498, 3,198 bases123455′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 3.7 kb of the gene's 42 kb; 840 of those bases code for the protein.

How a genome test reads NMNAT1

36

positions in NMNAT1 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 42 kb of NMNAT1, introns included, not only the 3.7 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.). NMNAT1 gene: nicotinamide nucleotide adenylyltransferase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/nmnat1

Vancouver

Dante Labs. NMNAT1 gene: nicotinamide nucleotide adenylyltransferase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/nmnat1

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