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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NT5C1A
5'-nucleotidase, cytosolic IA
Chromosome 1 · 1p34.2
NCBI Gene: 84618Ensembl: ENSG00000116981.5HGNC: HGNC:17819UniProt: Q9BXI3
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
AMP catabolic processIMP catabolic processdGMP catabolic processdAMP catabolic processsubstance-related disorderatrial fibrillationinclusion body myositissystemic lupus erythematosus
✦AI Summary

NT5C1A (5'-nucleotidase, cytosolic IA) catalyzes the hydrolysis of ribonucleotide and deoxyribonucleotide monophosphates, releasing inorganic phosphate and the corresponding nucleoside, with AMP as the major substrate but also hydrolyzing dCMP and IMP 1234. The enzyme functions in nucleotide metabolism pathways including AMP catabolism and adenosine metabolism within the cytosol. NT5C1A has gained significant clinical importance as an autoimmune target, with anti-NT5C1A autoantibodies serving as a key biomarker for inclusion body myositis (IBM), detected in 33-76% of IBM patients 5. These autoantibodies are found with high specificity for IBM compared to other inflammatory myopathies, though they can occur in other autoimmune conditions including dermatomyositis (15%), Sjögren's syndrome (23%), and systemic lupus erythematosus (14%) 5. In IBM patients, anti-NT5C1A seropositivity is associated with more severe muscle weakness and may correlate with specific pathological features including cytochrome oxidase-negative fibers 6. The antibodies are also found in juvenile myositis (27% prevalence) where they associate with more severe disease, greater pulmonary symptoms, and increased hospitalizations 7. Anti-NT5C1A autoantibodies can be produced locally within muscle tissue, suggesting their involvement in disease pathogenesis 8.

Sources cited
1
NT5C1A catalyzes hydrolysis of nucleotide monophosphates with AMP as major substrate
PMID: 11133996
2
NT5C1A catalyzes hydrolysis of nucleotide monophosphates with AMP as major substrate
PMID: 34814800
3
NT5C1A catalyzes hydrolysis of nucleotide monophosphates with AMP as major substrate
PMID: 7599155
4
NT5C1A catalyzes hydrolysis of nucleotide monophosphates with AMP as major substrate
PMID: 8967393
5
Anti-NT5C1A autoantibodies found in 33-76% of IBM patients and prevalence in other autoimmune diseases
PMID: 25892010
6
Anti-NT5C1A seropositivity associated with cytochrome oxidase-negative fibers in IBM
PMID: 33556224
7
Anti-NT5C1A antibodies found in 27% of juvenile myositis patients and associated with more severe disease
PMID: 29363513
8
Anti-NT5C1A antibodies can be produced locally within muscle tissue
PMID: 40424896
Disease Associationsⓘ20
substance-related disorderOpen Targets
0.30Weak
atrial fibrillationOpen Targets
0.25Weak
inclusion body myositisOpen Targets
0.10Suggestive
systemic lupus erythematosusOpen Targets
0.08Suggestive
liver dysplastic noduleOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
peeling skin syndromeOpen Targets
0.06Suggestive
osteoarthritisOpen Targets
0.04Suggestive
diabetic nephropathyOpen Targets
0.04Suggestive
kidney diseaseOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
dermatomyositisOpen Targets
0.03Suggestive
myositisOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
sleep apneaOpen Targets
0.02Suggestive
interstitial lung diseaseOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
polymyositisOpen Targets
0.02Suggestive
chronic kidney diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UPP2Protein interaction98%UPRTProtein interaction97%NAPRTProtein interaction96%CMPK2Protein interaction95%DCTDProtein interaction94%ADSS1Protein interaction93%
Tissue Expression6 tissues
Heart
100%
Brain
8%
Ovary
1%
Lung
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
NT5C1AUPP2UPRTNAPRTCMPK2DCTDADSS1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9BXI3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.44–0.93]
RankingsWhere NT5C1A stands among ~20K protein-coding genes
  • #13,026of 20,598
    Most Researched25
  • #8,624of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedNT5C1A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autoantibodies against a subunit of mitochondrial respiratory chain complex I in inclusion body myositis.
PMID: 39561568
J Autoimmun · 2024
1.00
2
Cytosolic 5'-Nucleotidase 1A As a Target of Circulating Autoantibodies in Autoimmune Diseases.
PMID: 25892010
Arthritis Care Res (Hoboken) · 2016
0.90
3
Clinical utility of anti-cytosolic 5'-nucleotidase 1A antibody in idiopathic inflammatory myopathies.
PMID: 33556224
Ann Clin Transl Neurol · 2021
0.80
4
Inclusion Body Myositis.
PMID: 27922498
Continuum (Minneap Minn) · 2016
0.70
5
Clinical significance of anti-NT5c1A autoantibody in Korean patients with inflammatory myopathies.
PMID: 37058449
PLoS One · 2023
0.60