ASRGL1
protein-codingasparaginase and isoaspartyl peptidase 1
Gene summary
Enables asparaginase activity and beta-aspartyl-peptidase activity. Involved in obsolete L-asparagine catabolic process via L-aspartate. Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~56.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
Inheritance Pattern: AR
Disease ID:MONDO:0019118
Submitter: Franklin by Genoox
A large five-generation pedigree with early-onset recessive retinal degeneration underwent genetic analysis which identify the p.G178R mutation in the asparaginase like-1 gene (ASRGL1), segregating with the retinal dystrophy phenotype in this pedigree. https://doi.org/10.1093/hmg/ddw113
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ASRGL1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001083926.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | 79 | 8 | 90 | ||
| missense | 149 | 6 | 1 | 156 | ||
| nonsense | 3 | 3 | ||||
| start loss | 0 | |||||
| frameshift | 5 | 5 | ||||
| splice donor/acceptor (+/-2bp) | 5 | 5 | ||||
| Total | 0 | 0 | 165 | 85 | 9 | 259 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001077395.1 | 6 | MANE Select | |
| Ensembl | ENSP00000400057.2 | 6 | MANE Select | |
| RefSeq | NP_001428145.1 | 4 | Standard | |
| RefSeq | NP_001428146.1 | 4 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| asrgl1 | Danio rerio | Structure: whole organism Quality: deformed abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Ammonia Recycling
- Hypoacetylaspartia
- Aspartate Metabolism
- Canavan Disease
- Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism
Biological Process
- proteolysis
- L-phenylalanine catabolic process
- asparagine catabolic process via L-aspartate
- protein maturation
Molecular Function
- N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity
- asparaginase activity
- beta-aspartyl-peptidase activity
- hydrolase activity
Cellular Component
- photoreceptor inner segment
- nucleus
- cytoplasm
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000415229
- Coding exons
- 6
- Length
- 55963
- Individuals with no LoFs
- 125687
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 61
- Defined
- 125748
- p
- 0.000243
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.203 | 177 | 185 | 0.958 | 0.0000104 | 1980 |
| Missense (PolyPhen) | 73 | 79.011 | 0.92392 | 781 | ||
| Synonymous | -0.388 | 80 | 75.7 | 1.06 | 0.00000493 | 634 |
| Loss of Function | 0.674 | 8 | 10.3 | 0.774 | 4.32e-7 | 141 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00025 | 0.00025 | rare |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00044 | 0.00044 | rare |
| Finnish | 0.000046 | 0.000046 | rare |
| European (Non-Finnish) | 0.00040 | 0.00040 | rare |
| South Asian | 0.000071 | 0.000065 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L- Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine. {ECO:0000269|PubMed:19839645}.;
Recessive Scores
- pRec
- 0.278
Intolerance Scores
- LoFtool
- 0.145
- RVIS EVS
- -0.31
- RVIS percentile EVS
- 31.93
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0643
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |