NMNAT3
Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3
Also known as: NMNA3_HUMAN, PNAT3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96T66
- Gene
- NMNAT3
- Ensembl
- ENSG00000163864
- Chromosome
- 3
- Canonical length
- 252 aa
- Protein class
- Enzymes, Metabolic proteins, Predicted intracellular proteins
- Subcellular location
- Mitochondria
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Canonical amino-acid sequenceUniProt
252 residues, UniProt reviewed canonical sequence.
>Q96T66|NMNAT3
1 MKSRIPVVLL ACGSFNPITN MHLRMFEVAR DHLHQTGMYQ VIQGIISPVN DTYGKKDLAA
61 SHHRVAMARL ALQTSDWIRV DPWESEQAQW METVKVLRHH HSKLLRSPPQ MEGPDHGKAL
121 FSTPAAVPEL KLLCGADVLK TFQTPNLWKD AHIQEIVEKF GLVCVGRVGH DPKGYIAESP
181 ILRMHQHNIH LAKEPVQNEI SATYIRRALG QGQSVKYLIP DAVITYIKDH GLYTKGSTWK
241 GKSTQSTEGK TSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NMNAT3 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
- 24 nTPM
Expression across tissuesHPA
Tissue
- retina: 24 nTPM
- skeletal muscle: 24 nTPM
- skin: 18 nTPM
- tongue: 17 nTPM
- ovary: 16 nTPM
- bone marrow: 16 nTPM
Single-cell type
- late spermatids: 333 nCPM
- erythrocyte progenitors: 180 nCPM
- rod photoreceptor cells: 179 nCPM
- late primary spermatocytes: 172 nCPM
- megakaryocyte progenitors: 170 nCPM
- myonuclei: 153 nCPM
Immune cell
- basophil: 8 nTPM
- neutrophil: 4.4 nTPM
- naive B-cell: 3 nTPM
- naive CD8 T-cell: 2.8 nTPM
- intermediate monocyte: 2.7 nTPM
- naive CD4 T-cell: 2.7 nTPM
Brain region
- white matter: 193 nTPM
- cerebellum: 190 nTPM
- cerebral cortex: 190 nTPM
- hippocampal formation: 157 nTPM
- basal ganglia: 156 nTPM
- amygdala: 153 nTPM
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)
- 1.85
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.16
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- NAD+ biosynthetic process
- NAD+ biosynthetic process via the salvage pathway
- nicotinamide metabolic process
- nucleotide biosynthetic process
- response to tumor necrosis factor
- response to wounding
Molecular functions
- ATP binding
- nicotinamide-nucleotide adenylyltransferase activity
- nicotinate-nucleotide adenylyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NMNAT3 as an antibody target. Whether an autoantibody or antibody against NMNAT3 could matter depends on whether native NMNAT3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NMNAT3 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 NMNAT3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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