NT5C1B
5'-Nucleotidase, Cytosolic IB
Gene Information Card
| Symbol | NT5C1B |
|---|---|
| Full Name | 5'-Nucleotidase, Cytosolic IB |
| Gene Type | protein-coding |
| Chromosomal Location | 2p24.2 |
| NCBI Gene ID | 51204 ncbi.nlm.nih.gov/gene/51204 |
| Ensembl ID | ENSG00000115966 |
| UniProt ID | Q96P26 |
| OMIM ID | 610526 |
| HGNC ID | 17819 |
| Aliases | CN-IIB, dNT-2, NT5C1B-RDH14 |
Description
NT5C1B encodes a cytosolic 5'-nucleotidase that catalyzes the dephosphorylation of nucleoside monophosphates, playing a role in nucleotide metabolism and salvage pathways. The enzyme is specific for deoxyribonucleotides and contributes to the regulation of dNTP pools.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Spleen | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 10.2 | Moderate expression |
| K-562 | 7.5 | Low expression |
| HepG2 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | missense | <0.01% | Likely loss of start codon |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 5'-nucleotidase activity (GO:0008253) | • nucleotide catabolic process (GO:0009166) |
| • cytoplasm (GO:0005737) |
Pathways
• Purine metabolism (Reactome R-HSA-73817)
• Pyrimidine metabolism (Reactome R-HSA-73821)
Protein Summary
NT5C1B is a 283-amino acid cytosolic protein belonging to the 5'-nucleotidase family. It preferentially dephosphorylates deoxyribonucleoside monophosphates, regulating intracellular dNTP levels. The enzyme is expressed in testis and other tissues, with potential roles in spermatogenesis and nucleotide homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NT5C1B Knockout HEK293 Cell Line | EDJ-KQ11149 | Human | 93034 | Details Get a Quote |
| NT5C1B-RDH14 Knockout HEK293 Cell Line | EDJ-KQ52477 | Human | 100526794 | Details Get a Quote |
| NT5C1B Knockout HeLa Cell Line | EDJ-KQ57852 | Human | 93034 | Details Get a Quote |
| NT5C1B-RDH14 Knockout HeLa Cell Line | EDJ-KQ60940 | Human | 100526794 | Details Get a Quote |
| NT5C1B Knockout A-549 Cell Line | EDJ-KQ66349 | Human | 93034 | Details Get a Quote |
| NT5C1B-RDH14 Knockout A-549 Cell Line | EDJ-KQ69415 | Human | 100526794 | Details Get a Quote |
| NT5C1B Knockout HCT 116 Cell Line | EDJ-KQ74772 | Human | 93034 | Details Get a Quote |
| NT5C1B-RDH14 Knockout HCT 116 Cell Line | EDJ-KQ77766 | Human | 100526794 | Details Get a Quote |
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