NIT1 Gene (Nitrilase 1)
Functional Role, Expression, and Clinical Significance of NIT1
Gene Information Card
| Symbol | NIT1 |
|---|---|
| Full Name | nitrilase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 4817 ncbi.nlm.nih.gov/gene/4817 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | Q86X76 |
| OMIM ID | 604654 |
| HGNC ID | 7830 |
| Aliases | NIT, nitrilase 1 homolog (S. cerevisiae) |
Description
NIT1 (nitrilase 1) encodes a member of the nitrilase family, which catalyzes the hydrolysis of nitriles to carboxylic acids and ammonia. The protein is involved in the metabolism of nitrile-containing compounds and has been implicated in cellular processes including apoptosis and tumor suppression. NIT1 is widely expressed in human tissues and its dysregulation is associated with various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Loss of NIT1 expression may contribute to tumorigenesis through impaired nitrile metabolism and altered apoptosis. | PMID: 15674326; NCBI Gene |
| Colorectal cancer | Reduced NIT1 expression observed in colorectal tumors compared to normal tissue. | PMID: 15674326 |
| Hepatocellular carcinoma | Downregulation of NIT1 in liver cancer tissues suggests a tumor suppressor role. | PMID: 15674326 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 8.7 | Medium |
| Heart | 6.3 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 8.9 | Moderate expression |
| HepG2 | 11.4 | High expression |
| A549 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
| c.100C>T | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
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)
| • nitrilase activity | • hydrolase activity |
| • carbon-nitrogen lyase activity | • cytoplasm |
| • cytosol |
Pathways
• Nitrogen metabolism
• Cyanoamino acid metabolism
Protein Summary
Nitrilase 1 is a 327-amino acid protein that belongs to the nitrilase family. It catalyzes the conversion of nitriles to carboxylic acids and ammonia. The protein is predominantly cytoplasmic and is expressed in multiple tissues. Structural studies indicate a conserved catalytic triad (Cys, Glu, Lys) essential for enzymatic activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NIT1 Knockout HEK293 Cell Line | EDJ-KQ4568 | Human | 4817 | Details Get a Quote |
| NIT1 Knockout A-549 Cell Line | EDJ-KQ28453 | Human | 4817 | Details Get a Quote |
| NIT1 Knockout HCT 116 Cell Line | EDJ-KQ28455 | Human | 4817 | Details Get a Quote |
| NIT1 Knockout HeLa Cell Line | EDJ-KQ28456 | Human | 4817 | Details Get a Quote |
