Seroatlas · Human Serome Atlas

NMNAT1

Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1

Also known as: LCA9, NMNA1_HUMAN, NMNAT, PNAT1

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

Protein identityUniProt · HPA

UniProt accession
Q9HAN9
Gene
NMNAT1
Ensembl
ENSG00000173614
Chromosome
1
Canonical length
279 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear bodies
Quaternary structure
Homohexamer

OverviewNCBI Gene

This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

279 residues, UniProt reviewed canonical sequence.

>Q9HAN9|NMNAT1
     1  MENSEKTEVV LLACGSFNPI TNMHLRLFEL AKDYMNGTGR YTVVKGIISP VGDAYKKKGL
    61  IPAYHRVIMA ELATKNSKWV EVDTWESLQK EWKETLKVLR HHQEKLEASD CDHQQNSPTL
   121  ERPGRKRKWT ETQDSSQKKS LEPKTKAVPK VKLLCGADLL ESFAVPNLWK SEDITQIVAN
   181  YGLICVTRAG NDAQKFIYES DVLWKHRSNI HVVNEWIAND ISSTKIRRAL RRGQSIRYLV
   241  PDLVQEYIEK HNLYSSESED RNAGVILAPL QRNTAEAKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NMNAT1 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)
0.32
Highest tissue expression
22 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 22 nTPM
  • tongue: 16 nTPM
  • heart muscle: 10 nTPM
  • kidney: 8.5 nTPM
  • colon: 8.4 nTPM
  • rectum: 8.4 nTPM

Single-cell type

  • myonuclei: 108 nCPM
  • choroid plexus epithelial cells: 107 nCPM
  • distal convoluted tubule cells: 55 nCPM
  • loop of henle epithelial cells: 52 nCPM
  • renal connecting tubule cells: 44 nCPM
  • proximal tubule cells: 43 nCPM

Immune cell

  • neutrophil: 9.1 nTPM
  • basophil: 7.2 nTPM
  • memory B-cell: 4.9 nTPM
  • non-classical monocyte: 3.8 nTPM
  • classical monocyte: 3.6 nTPM
  • eosinophil: 3.2 nTPM

Brain region

  • choroid plexus: 22 nTPM
  • white matter: 17 nTPM
  • basal ganglia: 15 nTPM
  • thalamus: 15 nTPM
  • medulla oblongata: 14 nTPM
  • cerebral cortex: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NMNAT1.

Disease | AllUniProt

Conditions NMNAT1 is implicated in, by any mechanism.

  • Leber congenital amaurosis 9 (LCA9) MIM:608553
  • Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis (SHILCA) MIM:619260

Disease | GeneticClinVar

69 pathogenic / likely-pathogenic of 226 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.88
gnomAD pLI
0.04
gnomAD missense Z
0.63
DepMap mean gene effect
-0.29
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of NMNAT1 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 NMNAT1 as an antibody target. Whether an autoantibody or antibody against NMNAT1 could matter depends on whether native NMNAT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NMNAT1 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 NMNAT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NMNAT1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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