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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NT5C1B
5'-nucleotidase, cytosolic IB
Chromosome 2 · 2p24.2
NCBI Gene: 93034Ensembl: ENSG00000185013.17HGNC: HGNC:17818UniProt: A0A140VJC7
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusadenosine metabolic processcytosol5'-nucleotidase activityvascular diseasecorneal neovascularizationatrial fibrillationneurodegenerative disease
✦AI Summary

NT5C1B (5'-nucleotidase, cytosolic IB) is a cytosolic enzyme that catalyzes 5'-nucleotidase activity and participates in adenosine and purine nucleotide catabolism [GO Annotations]. The gene exhibits cancer-testis antigen (CTA) characteristics, with expression normally restricted to testicular tissue but aberrantly expressed in certain malignancies. NT5C1B mRNA is detected in canine testis and shows expression in canine oral melanoma and metastatic cell lines 1, as well as in canine T-cell lymphomas with low-level expression in some normal dog tissues 2. In humans, NT5C1B has been associated with bulimia nervosa spectrum phenotypes in a genome-wide association study of disordered eating 3, and somatic mutations in NT5C1B have been identified in triple-negative breast cancer patients 4. Despite being reproductive organ-enriched, NT5C1B is dispensable for male fertility, as Nt5c1b gene-deficient mice generated via CRISPR/Cas9 exhibited normal fertility 5. The aberrant CTA expression pattern and association with specific disease phenotypes suggest NT5C1B may serve as an immunotherapy target in certain cancers, though its precise metabolic and clinical roles require further investigation.

Sources cited
1
NT5C1B is a cancer-testis antigen with mRNA expression in testis and strong expression in canine oral melanoma and metastatic cell lines
PMID: 40359694
2
NT5C1B is detected in canine T-cell lymphomas with low-level expression in some normal dog tissues
PMID: 30854786
3
NT5C1B variants are implicated in bulimia nervosa spectrum phenotypes in a genome-wide association study of eating disorders
PMID: 23568457
4
Somatic recurrent mutations in NT5C1B were identified in triple-negative breast cancer patients
PMID: 41324770
5
Nt5c1b gene-deficient mice generated by CRISPR/Cas9 exhibit normal male fertility, indicating the gene is not essential for reproduction
PMID: 38835510
Disease Associationsⓘ20
vascular diseaseOpen Targets
0.30Weak
corneal neovascularizationOpen Targets
0.30Weak
atrial fibrillationOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.26Weak
diverticular diseaseOpen Targets
0.26Weak
appendicitisOpen Targets
0.24Weak
appendectomyOpen Targets
0.24Weak
concussionOpen Targets
0.23Weak
hypertensionOpen Targets
0.23Weak
Inguinal herniaOpen Targets
0.20Weak
benign prostatic hyperplasiaOpen Targets
0.19Weak
male reproductive organ cancerOpen Targets
0.18Weak
Hodgkins lymphomaOpen Targets
0.17Weak
HypocalcemiaOpen Targets
0.16Weak
placenta praeviaOpen Targets
0.16Weak
atrial heart septal defectOpen Targets
0.11Weak
multinodular goiterOpen Targets
0.09Suggestive
dementiaOpen Targets
0.09Suggestive
exostosisOpen Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UPP2Protein interaction98%UPRTProtein interaction97%NAPRTProtein interaction96%CMPK2Protein interaction95%ADSS1Protein interaction93%DTYMKProtein interaction92%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
48%
Heart
32%
Lung
32%
Ovary
16%
Brain
10%
Gene Interaction Network
Click a node to explore
NT5C1BUPP2UPRTNAPRTCMPK2ADSS1DTYMK
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96P26
View on AlphaFold ↗
RankingsWhere NT5C1B stands among ~20K protein-coding genes
  • #16,237of 20,598
    Most Researched13
Genes detectedNT5C1B
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Cancer-testis antigen expression in canine melanoma and healthy tissues.
PMID: 40359694
Vet Immunol Immunopathol · 2025
1.00
2
Genetic variants associated with disordered eating.
PMID: 23568457
Int J Eat Disord · 2013
0.80
3
Gene-deficient mouse model established by CRISPR/Cas9 system reveals 15 reproductive organ-enriched genes dispensable for male fertility.
PMID: 38835510
Front Cell Dev Biol · 2024
0.60
4
Cancer-testis antigens in canine histiocytic sarcoma and other malignancies.
PMID: 30854786
Vet Comp Oncol · 2019
0.40
5
Whole-exome sequencing for identification of specific gene mutations in an Indian cohort of triple-negative breast cancer patients.
PMID: 41324770
Discov Oncol · 2025
0.20