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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NAALADL1
N-acetylated alpha-linked acidic dipeptidase like 1
Chromosome 11 Β· 11q13.1
NCBI Gene: 10004Ensembl: ENSG00000168060.16HGNC: HGNC:23536UniProt: Q9UQQ1
8PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
aminopeptidase activitycalcium ion bindingzinc ion bindingprotein homodimerization activityneurodegenerative diseaseoptic atrophygoutRetinal dystrophy
✦AI Summary

Based on limited published evidence, NAALADL1 encodes a zinc-dependent metallopeptidase with broad aminopeptidase activity 1. The enzyme lacks carboxypeptidase and dipeptidyl-peptidase IV activities, and shows reduced activity toward substrates with Asp/Glu at P2' position or Pro at P3' position 1. NAALADL1 is primarily expressed in the small intestine, suggesting a role in final stages of protein/peptide digestion and absorption 1. The protein functions as a homodimer and binds zinc and calcium ions. NAALADL1 shares structural homology with glutamate carboxypeptidase II but possesses distinct substrate specificity.

Sources cited
1
NAALADL1 is a zinc-dependent metallopeptidase with aminopeptidase activity, lacks carboxy- and endopeptidase activities, primarily expressed in small intestine
PMID: 25752612
2
NAALADL1 identified as protein related to PSMA but does not bind PSMA-targeting radioligands with significant affinity
PMID: 36184692
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.42Moderate
optic atrophyOpen Targets
0.30Weak
goutOpen Targets
0.22Weak
Retinal dystrophyOpen Targets
0.18Weak
metabolic syndromeOpen Targets
0.08Suggestive
Crohn's diseaseOpen Targets
0.04Suggestive
poisoningOpen Targets
0.04Suggestive
acneOpen Targets
0.03Suggestive
migraine disorderOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
colorectal cancerOpen Targets
0.01Suggestive
uterine leiomyosarcomaOpen Targets
0.01Suggestive
type 1 diabetes mellitusOpen Targets
0.00Suggestive
systemic lupus erythematosusOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
myelodysplastic syndromeOpen Targets
0.00Suggestive
dedifferentiated liposarcomaOpen Targets
0.00Suggestive
infectious diseaseOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_005468.3(NAALADL1):c.1509-1G>ALikely pathogenic
Optic atrophy|Ovarian serous cystadenocarcinoma
β˜†β˜†β˜†β˜†2023
View on ClinVar β†—
Related Genes
CD8AProtein interaction100%CCR7Protein interaction95%CD19Protein interaction94%CD27Protein interaction93%ADGRG6Protein interaction77%UCHL1Protein interaction77%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
78%
Lung
53%
Brain
49%
Heart
32%
Liver
12%
Gene Interaction Network
Click a node to explore
NAALADL1CD8ACCR7CD19CD27ADGRG6UCHL1
PROTEIN STRUCTURE
Preparing viewer…
PDB4TWE Β· 1.75 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.89 [0.74–1.08]
RankingsWhere NAALADL1 stands among ~20K protein-coding genes
  • #17,658of 20,598
    Most Researched8
  • #5,486of 5,498
    Most Pathogenic Variants1
  • #10,975of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedNAALADL1
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Structural and biochemical characterization of a novel aminopeptidase from human intestine.
PMID: 25752612
J Biol Chem Β· 2015
1.00
2
Cross-reactivity to glutamate carboxypeptidase III causes undesired salivary gland and kidney uptake of PSMA-targeted small-molecule radionuclide therapeutics.
PMID: 36184692
Eur J Nucl Med Mol Imaging Β· 2023
0.50