NANP: N-Acetylneuraminic Acid Phosphatase
A key enzyme in sialic acid biosynthesis, involved in cellular metabolism and potential disease links.
Gene Information Card
| Symbol | NANP |
|---|---|
| Full Name | N-acetylneuraminic acid phosphatase |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.21 |
| NCBI Gene ID | 140838 ncbi.nlm.nih.gov/gene/140838 |
| Ensembl ID | ENSG00000125870 |
| UniProt ID | Q8TBE9 |
| OMIM ID | 611390 |
| HGNC ID | 24038 |
| Aliases | C20orf37, NANPP, N-acetylneuraminic acid phosphatase |
Description
The NANP gene encodes N-acetylneuraminic acid phosphatase, an enzyme that catalyzes the dephosphorylation of N-acetylneuraminic acid 9-phosphate to N-acetylneuraminic acid (sialic acid) in the sialic acid biosynthesis pathway. Sialic acids are terminal sugars on glycoproteins and glycolipids, playing critical roles in cell-cell interactions, immune recognition, and pathogen binding. NANP is essential for the final step of sialic acid production in the cytosol.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sialuria | Deficiency in NANP leads to accumulation of sialic acid precursors, though specific disease association is not fully established. | Limited evidence; OMIM notes potential metabolic disorder. |
| Cancer (various) | Altered sialic acid metabolism, including NANP expression changes, may influence tumor cell adhesion and metastasis. | Inferred from pathway involvement; COSMIC reports somatic mutations in some cancers. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 10.2 | Medium |
| Kidney | 8.5 | Medium |
| Brain | 6.1 | Low |
| Lung | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.4 | Hepatocellular carcinoma cell line |
| HEK 293 | 9.8 | Embryonic kidney cells |
| A549 | 7.2 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown functional impact |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations likely reduce or abolish phosphatase activity, impairing sialic acid synthesis.
Gain of Function (GOF)
Not reported; no evidence for activating mutations.
Dominant Negative (DN)
Not described; no known dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003823 - antigen binding | • GO:0004553 - hydrolase activity |
| • hydrolyzing O-glycosyl compounds | • GO:0005737 - cytoplasm |
| • GO:0006054 - N-acetylneuraminate 9-phosphate phosphatase activity | • GO:0009100 - glycoprotein metabolic process |
| • GO:0016051 - carbohydrate biosynthetic process |
Pathways
• KEGG: hsa00520 - Amino sugar and nucleotide sugar metabolism
• Reactome: R-HSA-4085001 - Sialic acid metabolism
Protein Summary
N-acetylneuraminic acid phosphatase (NANP) is a 25.6 kDa cytosolic enzyme that dephosphorylates N-acetylneuraminic acid 9-phosphate to produce free sialic acid. It belongs to the haloacid dehalogenase (HAD) superfamily and requires magnesium as a cofactor. The protein is expressed in multiple tissues, with highest levels in liver and kidney. NANP activity is crucial for maintaining sialic acid pools for glycoconjugate synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NANP Knockout HEK293 Cell Line | EDJ-KQ9822 | Human | 140838 | Details Get a Quote |
| NANP Knockout A-549 Cell Line | EDJ-KQ36671 | Human | 140838 | Details Get a Quote |
| NANP Knockout HCT 116 Cell Line | EDJ-KQ36672 | Human | 140838 | Details Get a Quote |
| NANP Knockout HeLa Cell Line | EDJ-KQ36673 | Human | 140838 | Details Get a Quote |
| NANP Knockout HAP1 Cell Line | EDC08165 | Human | 140838 | Details Get a Quote |
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