NAALADL1 Gene - N-Acetylated Alpha-Linked Acidic Dipeptidase Like 1
Comprehensive genomic and proteomic analysis of NAALADL1, including expression, mutations, and disease associations.
Gene Information Card
| Symbol | NAALADL1 |
|---|---|
| Full Name | N-acetylated alpha-linked acidic dipeptidase like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 10004 ncbi.nlm.nih.gov/gene/10004 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q9UQQ1 |
| OMIM ID | 608764 |
| HGNC ID | 23277 |
| Aliases | NAALADL, NAALADase L1, GCPIII, FLJ20297 |
Description
NAALADL1 encodes a member of the M28 peptidase family, which is similar to N-acetylated alpha-linked acidic dipeptidase (NAALADase). The encoded protein is a type II transmembrane protein with hydrolase activity, potentially involved in peptide metabolism. It is expressed in various tissues, with highest levels in the kidney and prostate.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Overexpression of NAALADL1 may contribute to tumor progression through altered peptide metabolism. | PubMed: 14562041 |
| Renal cell carcinoma | Differential expression observed in kidney tumors compared to normal tissue. | PubMed: 22952446 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Prostate | 8.3 | Medium |
| Liver | 4.1 | Low |
| Brain | 2.0 | Low |
| Testis | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 6.8 | Medium expression |
| HepG2 | 3.4 | Low expression |
| A549 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Unknown functional effect |
| c.457C>T (p.Arg153Trp) | 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)
| • metallopeptidase activity (GO:0008237) | • proteolysis (GO:0006508) |
| • integral component of membrane (GO:0016021) |
Pathways
• Peptide hormone metabolism (Reactome: R-HSA-422085)
Protein Summary
NAALADL1 is a 740-amino acid type II transmembrane protein with a zinc-binding motif characteristic of M28 peptidases. It localizes to the plasma membrane and is predicted to hydrolyze N-acetylated peptides. The protein shares homology with NAALADase (GCPII) but its specific substrates and physiological roles remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NAALADL1 Knockout HEK293 Cell Line | EDJ-KQ6862 | Human | 10004 | Details Get a Quote |
| NAALADL1 Knockout HeLa Cell Line | EDJ-KQ55298 | Human | 10004 | Details Get a Quote |
| NAALADL1 Knockout A-549 Cell Line | EDJ-KQ63779 | Human | 10004 | Details Get a Quote |
| NAALADL1 Knockout HCT 116 Cell Line | EDJ-KQ72238 | Human | 10004 | Details Get a Quote |
