FTCDNL1 Gene
Formimidoyltransferase Cyclodeaminase N-terminal Like 1
Gene Information Card
| Symbol | FTCDNL1 |
|---|---|
| Full Name | Formimidoyltransferase Cyclodeaminase N-terminal Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000204103 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617296 |
| HGNC ID | 37237 |
| Aliases | MGC16384, FLJ40313 |
Description
FTCDNL1 (Formimidoyltransferase Cyclodeaminase N-terminal Like 1) is a protein-coding gene located on chromosome 2q33.1. The encoded protein shares similarity with the N-terminal domain of formimidoyltransferase cyclodeaminase (FTCD), an enzyme involved in histidine metabolism. The function of FTCDNL1 is not fully characterized, but it is predicted to be involved in metabolic processes. Expression data suggest low to moderate levels in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Brain | 1.5 | Low |
| Liver | 0.8 | Not detected |
| Kidney | 1.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.0 | Low expression |
| HeLa | 1.3 | Low expression |
| K562 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: not yet assigned | • Biological process: not yet assigned |
| • Cellular component: not yet assigned |
Pathways
• No curated pathways available
Protein Summary
The FTCDNL1 protein (UniProt A6NKD9) is a 336-amino acid polypeptide with a predicted molecular weight of 37.5 kDa. It contains a domain similar to the N-terminal region of FTCD, but its specific enzymatic activity and biological role remain to be elucidated. No post-translational modifications or structural data are currently available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FTCDNL1 Knockout HEK293 Cell Line | EDJ-KQ13528 | Human | 348751 | Details Get a Quote |
| FTCDNL1 Knockout A-549 Cell Line | EDJ-KQ43139 | Human | 348751 | Details Get a Quote |
| FTCDNL1 Knockout HeLa Cell Line | EDJ-KQ41895 | Human | 348751 | Details Get a Quote |
