ASRGL1

Summary

ASRGL1 (asparaginase and isoaspartyl peptidase 1, HGNC:16448) is a protein-coding gene on chromosome 11q12.3, encoding Isoaspartyl peptidase/L-asparaginase (Q7L266). Has both L-asparaginase and beta-aspartyl peptidase activity.

Enables asparaginase activity and beta-aspartyl-peptidase activity. Involved in obsolete L-asparagine catabolic process via L-aspartate. Located in cytoplasm.

Source: NCBI Gene 80150 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• Gene–disease (curated): inherited retinal dystrophy (Limited, GenCC)
• GWAS associations: 11
• Clinical variants (ClinVar): 309 total — 1 likely-pathogenic (top 10% of genes corpus-wide)
• GTEx eGene: eQTL in 39 tissues, sQTL in 28 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.12 (unconstrained)
• MANE Select transcript: NM_001083926
• Notable: 309 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16448
Approved symbol	ASRGL1
Name	asparaginase and isoaspartyl peptidase 1
Location	11q12.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22316, ALP1, ALP
Ensembl gene	ENSG00000162174
Ensembl biotype	protein_coding
OMIM	609212
Entrez	80150

Gene structure

Transcript identifiers

Ensembl transcripts: 38 — 27 protein_coding, 8 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000415229

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 4, TSL 2: 4, TSL 3: 1, TSL 4: 2

ENST00000415229, ENST00000301776, ENST00000525496, ENST00000525708, ENST00000526096, ENST00000528206, ENST00000529226, ENST00000533970, ENST00000534183, ENST00000534571, ENST00000628829, ENST00000870124, ENST00000870125, ENST00000870126, ENST00000870127, ENST00000870128, ENST00000935951, ENST00000935952, ENST00000935953, ENST00000935954, ENST00000956001, ENST00000956002, ENST00001005994, ENST00001042785, ENST00001042787, ENST00001042788, ENST00001094500, ENST00001094501, ENST00001112403, ENST00001112404, ENST00001121004, ENST00001127210, ENST00001127211, ENST00001127212, ENST00001127675, ENST00001127676, ENST00001127677, ENST00001137362

RefSeq mRNA: 4 — MANE Select: NM_001083926 NM_001083926, NM_001441216, NM_001441217, NM_025080

CCDS: CCDS8019

Canonical transcript exons

ENST00000415229 — 7 exons

Exon	Start	End
ENSE00001063097	62389133	62389251
ENSE00001063099	62391522	62391632
ENSE00001801006	62337890	62338167
ENSE00002149030	62392079	62393412
ENSE00002176270	62337448	62337574
ENSE00003658475	62356987	62357144
ENSE00003714901	62356325	62356467

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 97.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5413 / max 279.2216, expressed in 1203 samples.

Highest expression (Bgee): sperm, male germ cell, uterine tube, putamen, substantia nigra pars reticulata.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ASRGL1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 39 tissues and its splicing (sQTL) in 28 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 67 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	eqtl	1.3e-48	-0.52	11:62360105:T:C
Testis	sqtl	7.8e-46	-1.04	11:62326097:G:A
Muscle Skeletal	eqtl	5.0e-40	-0.52	11:62337465:T:G
Brain Cerebellum	sqtl	6.3e-22	-1.59	11:62346588:A:T
Brain Cerebellar Hemisphere	sqtl	8.7e-22	-1.60	11:62346588:A:T
Whole Blood	eqtl	6.4e-21	-0.47	11:62352023:G:C
Brain Putamen basal ganglia	sqtl	2.3e-20	+1.40	11:62381836:A:G
Brain Frontal Cortex BA9	sqtl	5.6e-19	+1.15	11:62381836:A:G
Brain Cortex	sqtl	7.9e-19	-0.85	11:62326097:G:A
Brain Frontal Cortex BA9	eqtl	7.9e-18	-0.24	11:62318014:A:G
Pancreas	eqtl	1.9e-17	-0.41	11:62321366:C:T
Lung	sqtl	3.0e-17	-0.56	11:62326730:C:T
Brain Caudate basal ganglia	sqtl	1.1e-16	+1.14	11:62346588:A:T
Adipose Subcutaneous	sqtl	3.2e-15	-0.79	11:62397808:A:G
Brain Nucleus accumbens basal ganglia	sqtl	2.5e-14	+1.17	11:62381836:A:G
Thyroid	eqtl	5.9e-14	-0.45	11:62337465:T:G
Brain Spinal cord cervical c-1	eqtl	7.6e-14	-0.76	11:62316058:C:T
Brain Hypothalamus	eqtl	2.2e-13	-0.53	11:62331263:T:C
Cells Cultured fibroblasts	eqtl	3.8e-12	+0.43	11:62316058:C:T
Brain Cerebellum	eqtl	6.4e-12	-0.63	11:62352023:G:C

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
114684	9.5413	1203

Top tissues by expression

showing 100 of 283 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.82	gold quality
male germ cell	CL:0000015	97.57	gold quality
right uterine tube	UBERON:0001302	97.45	gold quality
putamen	UBERON:0001874	97.45	gold quality
substantia nigra pars reticulata	UBERON:0001966	97.42	gold quality
left testis	UBERON:0004533	97.37	gold quality
adult organism	UBERON:0007023	97.24	gold quality
nasal cavity epithelium	UBERON:0005384	97.14	gold quality
ventral tegmental area	UBERON:0002691	97.11	gold quality
right testis	UBERON:0004534	97.05	gold quality
amygdala	UBERON:0001876	96.86	gold quality
cerebellar vermis	UBERON:0004720	96.85	gold quality
substantia nigra pars compacta	UBERON:0001965	96.68	gold quality
substantia nigra	UBERON:0002038	96.67	gold quality
caudate nucleus	UBERON:0001873	96.63	gold quality
midbrain	UBERON:0001891	96.60	gold quality
lateral globus pallidus	UBERON:0002476	96.49	gold quality
right frontal lobe	UBERON:0002810	96.35	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.89	gold quality
cingulate cortex	UBERON:0003027	95.69	gold quality
anterior cingulate cortex	UBERON:0009835	95.69	gold quality
cerebellar hemisphere	UBERON:0002245	95.62	gold quality
hypothalamus	UBERON:0001898	95.61	gold quality
cerebellar cortex	UBERON:0002129	95.55	gold quality
subthalamic nucleus	UBERON:0001906	95.38	gold quality
testis	UBERON:0000473	95.37	gold quality
cerebellum	UBERON:0002037	95.33	gold quality
nucleus accumbens	UBERON:0001882	95.31	gold quality
superior vestibular nucleus	UBERON:0007227	95.28	gold quality
metanephros cortex	UBERON:0010533	95.28	gold quality
dorsal plus ventral thalamus	UBERON:0001897	95.13	gold quality
pons	UBERON:0000988	95.12	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.00	gold quality
telencephalon	UBERON:0001893	94.89	gold quality
temporal lobe	UBERON:0001871	94.86	gold quality
endometrium	UBERON:0001295	94.69	gold quality
neocortex	UBERON:0001950	94.59	gold quality
brain	UBERON:0000955	94.57	gold quality
inferior vagus X ganglion	UBERON:0005363	94.52	gold quality
frontal cortex	UBERON:0001870	94.49	gold quality
forebrain	UBERON:0001890	94.49	gold quality
frontal lobe	UBERON:0016525	94.49	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.45	gold quality
prefrontal cortex	UBERON:0000451	94.36	gold quality
cerebral cortex	UBERON:0000956	94.29	gold quality
globus pallidus	UBERON:0001875	94.19	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.15	gold quality
adult mammalian kidney	UBERON:0000082	94.03	gold quality
Ammon’s horn	UBERON:0001954	94.00	gold quality
medulla oblongata	UBERON:0001896	93.90	gold quality
occipital lobe	UBERON:0002021	93.77	gold quality
nasal cavity mucosa	UBERON:0001826	93.74	gold quality
ganglionic eminence	UBERON:0004023	93.65	gold quality
CA1 field of hippocampus	UBERON:0003881	93.61	gold quality
medial globus pallidus	UBERON:0002477	93.58	gold quality
renal medulla	UBERON:0000362	93.41	gold quality
nephron tubule	UBERON:0001231	93.30	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.12	gold quality
primary visual cortex	UBERON:0002436	93.11	gold quality
cortical plate	UBERON:0005343	93.04	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	92.95	gold quality
pancreatic ductal cell	CL:0002079	92.92	silver quality
Brodmann (1909) area 46	UBERON:0006483	92.88	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.61	gold quality
spinal cord	UBERON:0002240	92.49	gold quality
orbitofrontal cortex	UBERON:0004167	92.47	gold quality
inferior olivary complex	UBERON:0002127	92.28	gold quality
parietal lobe	UBERON:0001872	92.03	gold quality
right lung	UBERON:0002167	91.85	gold quality
kidney	UBERON:0002113	91.67	gold quality
entorhinal cortex	UBERON:0002728	91.46	gold quality
postcentral gyrus	UBERON:0002581	91.43	gold quality
superior frontal gyrus	UBERON:0002661	91.41	gold quality
upper lobe of left lung	UBERON:0008952	91.07	gold quality
corpus callosum	UBERON:0002336	90.90	gold quality
epithelial cell of pancreas	CL:0000083	90.86	silver quality
ventricular zone	UBERON:0003053	90.61	gold quality
middle temporal gyrus	UBERON:0002771	90.52	gold quality
upper lobe of lung	UBERON:0008948	90.50	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.17	gold quality
monocyte	CL:0000576	90.01	gold quality
mononuclear cell	CL:0000842	89.88	gold quality
kidney epithelium	UBERON:0004819	89.87	gold quality
pituitary gland	UBERON:0000007	89.70	gold quality
adenohypophysis	UBERON:0002196	89.70	gold quality
embryo	UBERON:0000922	89.63	gold quality
pigmented layer of retina	UBERON:0001782	89.33	gold quality
retina	UBERON:0000966	89.30	gold quality
rectum	UBERON:0001052	89.27	gold quality
leukocyte	CL:0000738	89.23	gold quality
secondary oocyte	CL:0000655	89.09	gold quality
cortex of kidney	UBERON:0001225	88.51	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.35	gold quality
cranial nerve II	UBERON:0000941	88.17	silver quality
Brodmann (1909) area 23	UBERON:0013554	88.06	gold quality
mucosa of transverse colon	UBERON:0004991	87.23	gold quality
pylorus	UBERON:0001166	86.64	gold quality
metanephros	UBERON:0000081	86.56	gold quality
cardia of stomach	UBERON:0001162	86.34	gold quality
caput epididymis	UBERON:0004358	86.05	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-38	yes	755.30
E-MTAB-10287	yes	642.53
E-MTAB-3929	no	577.03
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Caudate putamen	tissue	138.2
Frontal cortex	tissue	127.6
Cervix	tissue	114.4	high
Postcentral gyrus	tissue	86.6
Testis	tissue	77.9	medium
Periaqueductal gray	tissue	76.5
Pons	tissue	69.8
Hypothalamus	tissue	65.9
Fallopian tube	tissue	64.1	medium
Medulla oblongata	tissue	63.2
Midbrain	tissue	62.1
Substantia nigra	tissue	61.6
Hippocampus	tissue	57.3	medium
Locus coeruleus	tissue	56.1
Thalamus	tissue	55.0
Spinal cord	tissue	53.7
Hippocampal formation	tissue	51.8
Nucleus accumbens	tissue	46.9
Amygdala	tissue	46.7
Superior colliculi	tissue	46.5
Septum	tissue	45.1
Basal ganglia	tissue	44.8	medium
Putamen	tissue	44.7
Cerebellum	tissue	43.8	high
Ventral forebrain	tissue	41.7
Kidney	tissue	39.5	medium
Cerebral cortex	tissue	38.4	low
Somatosensory cortex	tissue	38.4
Temporal cortex	tissue	37.4
Motor cortex	tissue	36.4
Entorhinal cortex	tissue	36.0
Prefrontal cortex	tissue	35.9
Occipital cortex	tissue	35.5
Retrosplenial and cingulate cortex	tissue	32.0
Retrosplenial cortex	tissue	32.0
Corpus callosum	tissue	31.1
Insular cortex	tissue	30.6
Choroid plexus	tissue	25.0
Endometrium 1	tissue	24.6	high
Olfactory bulb	tissue	24.4
Pituitary gland	tissue	19.5
Rectum	tissue	15.9	not detected
Retina	tissue	15.4
Prostate	tissue	13.8	low
Bone marrow	tissue	13.4	not detected
Colon	tissue	13.2	low
Salivary gland	tissue	11.3	not detected
Lung	tissue	10.7	not detected
Gallbladder	tissue	10.5	low
Thymus	tissue	9.5
Stomach 1	tissue	8.8	not detected
Pancreas	tissue	7.9	not detected
Seminal vesicle	tissue	6.7	low
Duodenum	tissue	6.2	low
Appendix	tissue	6.1	low
Thyroid gland	tissue	5.3	not detected
Lymph node	tissue	5.0	not detected
Adipose tissue	tissue	4.8	not detected
Tonsil	tissue	4.4	not detected
Small intestine	tissue	4.3	not detected

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Posterior thalamic nucleus (114.4), Medial geniculate body (97.7), Lateral thalamic nuclei (94.4), Medial dorsal thalamic nucleus (92.9), Pulvinar (91.9).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ASRGL1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 46 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-4735-5P	99.43	68.49	1780
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-196A-3P	99.19	67.34	1204
HSA-MIR-4784	99.15	67.41	1733
HSA-MIR-4717-3P	99.06	66.34	1072
HSA-MIR-922	99.02	67.23	1838

Functional genomics

gnomAD constraint: pLI 6.65e-05, LOEUF 1.12, missense Z 0.127 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000415229 — one region, missense o/e 1.00.

Literature-anchored findings (GeneRIF, showing 15)

• Human ALP cDNA was subsequently cloned. It showed 77% identity to the rat ALP sequence and the gene, ASRGL1 (asparaginase-like 1), mapped to chromosome locus 11q12.3. (PMID:11984834)
• Overexpression of CRASH is associated with metastatic breast cancer. (PMID:19414332)
• ASRGL1 exhibits beta-aspartyl peptidase activity consistent with plant-type asparaginases. ASRGL1 is shown to be an Ntn hydrolase for which Thr168 serves as the essential N-terminal nucleophile for intramolecular processing and catalysis. (PMID:19839645)
• Determined is the structure of the first mammalian plant-type asparaginase in both a precursor and fully activated form. (PMID:22891768)
• Reduced expression of ASRGL1, defined as <75% positively stained tumor cells, was significantly associated with poor prognosis and reduced disease-specific survival in endometrioid endometrial adenocarcinoma (EEA). (PMID:25858696)
• Multiple negatively charged small molecules interact within the active site of ASRGL1 to act as a base in promoting cleavage. (PMID:26780688)
• Our studies suggest that the p.G178R mutation in ASRGL1 leads to photoreceptor degeneration resulting in progressive vision loss. (PMID:27106100)
• In a prospective setting ASRGL1 validates as a strong prognostic biomarker in endometrial carcinoma. Loss of ASRGL1 is associated with aggressive disease and poor survival. (PMID:29096882)
• A panel including p53 and ASRGL1 immunohistochemistry was identified as the most accurate predictor of relapse-free and disease-specific survival. Within this panel, patients were allocated into high- (5.9%), intermediate- (29.5%) and low- (64.6%) risk groups where high-risk patients had a 30-fold risk (P<0.001) of dying of EEC compared to the low-risk group. (PMID:29486992)
• The strongest associations between protein abundance and Alzheimer’s disease severity were found for APLP1, CNTN2 and SPP1 proteins The best discrimination between mild cognitive impairment vs. controls was observed with a model combining APLP1 and SPP1 proteins. (PMID:29684683)
• ASRGL1 was closely associated with growth and apoptosis in cervical cancer. Therefore, ASRGL1 may be a novel, potentially effective anticervical cancer therapy. (PMID:29767260)
• The role of the quaternary structure in the activation of human L-asparaginase. (PMID:32434038)
• ASRGL1 downregulation suppresses hepatocellular carcinoma tumorigenesis in a CDK1-dependent manner. (PMID:36572570)
• l-Asparaginase regulates mTORC1 activity via a TSC2-dependent pathway in pancreatic beta cells. (PMID:36842323)
• TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression. (PMID:38755145)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	asrgl1	ENSDARG00000021681
mus_musculus	Asrgl1	ENSMUSG00000024654
rattus_norvegicus	Asrgl1	ENSRNOG00000020202
drosophila_melanogaster	CG7860	FBGN0030653

Paralogs (2): AGA (ENSG00000038002), TASP1 (ENSG00000089123)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1913764) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 15 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal retina photoreceptor layer morphology	1
abnormal rod electrophysiology	1
abnormal cone electrophysiology	1
abnormal eye electrophysiology	1
retina cone cell degeneration	1
decreased retina cone cell number	1
retina photoreceptor degeneration	1
retina rod cell degeneration	1
thin retina inner nuclear layer	1
thin retina outer nuclear layer	1
short photoreceptor inner segment	1
short photoreceptor outer segment	1
decreased a-wave amplitude	1
decreased b-wave amplitude	1
increased retina apoptosis	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Drosophila sechellia	B4HT15	98.2%	Diamond
Drosophila simulans	B4QHB1	98.2%	Diamond
Macaca fascicularis	Q4R7U8	96.1%	Diamond
Lupinus angustifolius	P30364	95.7%	Diamond
Lupinus luteus	Q9ZSD6	95.7%	Diamond
Lupinus albus	P50288	94.8%	Diamond
Lupinus arboreus	P30362	94.4%	Diamond
Drosophila erecta	B3N6Y7	94.2%	Diamond
Drosophila yakuba	B4NWI1	93.9%	Diamond
Pyrococcus furiosus DSM 3638	Q8U4E6	91.5%	Diamond
Pyrococcus abyssi GE5	Q9V262	91.5%	Diamond
Thermococcus kodakarensis KOD1	Q5JHT1	91.2%	Diamond
Pyrococcus horikoshii OT3	O57971	91.1%	Diamond
Escherichia coli K-12	P37595	88.2%	Diamond
Salmonella enterica subsp. enterica serovar Typhimurium str. LT2	Q7CQV5	88.2%	Diamond
Drosophila pseudoobscura pseudoobscura	Q29I93	83.6%	Diamond
Bos taurus	Q32LE5	82.4%	Diamond
Arabidopsis thaliana	P50287	74.9%	Diamond
Drosophila grimshawi	B4JVW6	72.7%	Diamond
Synechocystis sp. PCC 6803 substr. Kazusa	P74383	65.1%	Diamond
Nostoc sp. PCC 7120 = FACHB-418	Q8YQB1	64.6%	Diamond
Xenopus laevis	Q6GM78	61.6%	Diamond
Spodoptera frugiperda	O02467	61.4%	Diamond
Dictyostelium discoideum	Q54WW4	53.4%	Diamond
Pyrobaculum calidifontis JCM 11548	A3MUS8	43.8%	Diamond
Elizabethkingia miricola	Q47898	41.1%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
SCGB1D4	protein-coding	404552
SCGB2A2	protein-coding	4250
SCGB1A1	protein-coding	7356
AHNAK	protein-coding	79026
MIR6747	ncRNA	102465447
EEF1G	protein-coding	1937
TUT1	protein-coding	64852
SCGB1D2	protein-coding	10647

Protein

Protein identifiers

Isoaspartyl peptidase/L-asparaginase — Q7L266 (reviewed: Q7L266)

Alternative names: Asparaginase-like protein 1, Beta-aspartyl-peptidase, Isoaspartyl dipeptidase, L-asparagine amidohydrolase

All UniProt accessions (6): A0A024R573, A0A087WUG3, A0A087WZI5, A0A087X1T8, E9PJK6, Q7L266

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Heterodimer of an alpha and beta chain produced by autocleavage. This heterodimer may then dimerize in turn, giving rise to a heterotetramer.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in brain, kidney, testis and tissues of the gastrointestinal tract. Present in sperm (at protein level). Over-expressed in uterine, mammary, prostatic and ovarian carcinoma.

Post-translational modifications. Cleaved into an alpha and beta chain by autocatalysis; this activates the enzyme. The N-terminal residue of the beta subunit is responsible for the nucleophile hydrolase activity.

Activity regulation. Glycine accelerates autocleavage into an alpha and beta chain.

Induction. By 5-alpha-di-hydrotestosterone and progesterone.

Similarity. Belongs to the Ntn-hydrolase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7L266-1	1	yes
Q7L266-2	2

RefSeq proteins (4): NP_001077395, NP_001428145, NP_001428146, NP_079356 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000246	Peptidase_T2	Family
IPR029055	Ntn_hydrolases_N	Homologous_superfamily
IPR033844	ASRGL1_meta	Family

Pfam: PF01112

Enzyme classification (BRENDA)

• EC 3.4.19.5 — beta-aspartyl-peptidase (BRENDA: 8 organisms, 47 substrates, 3 inhibitors, 31 Km, 29 kcat entries)
• EC 3.5.1.1 — asparaginase (BRENDA: 169 organisms, 249 substrates, 394 inhibitors, 319 Km, 145 kcat entries)

Substrate kinetics (BRENDA)

27 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
L-ASPARAGINE	0.0009–1732.5	193
L-GLUTAMINE	0.034–130.35	23
L-ASPARTYL-BETA-HYDROXAMATE	0.011–1.9	19
L-GLN	0.005–70	17
BETA-ASP-LEU	0.09–34	15
BETA-ASP-HIS	2.38–12.6	13
L-ASN	0.0002–7.4	12
ASN	0.0048–4.7	7
N-ACETYL-L-ASPARAGINE	0.597–5.613	4
BETA-ASP-PHE	0.23–0.49	3
D-ASPARAGINE	1.2–24.1	3
GLN	0.0058–6.26	3
ALPHA-ASP-LEU	5–6.9	2
BETA-ASP-ALA	1.2–3.7	2
BETA-ASP-GLY	4.7–18	2

Catalyzed reactions (Rhea)

• L-asparagine + H2O = L-aspartate + NH4(+) (RHEA:21016)

UniProt features (43 total): strand 15, helix 13, turn 4, chain 2, binding site 2, mutagenesis site 2, sequence conflict 1, active site 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

15 structures by resolution:

PDB	Title	Method	Resolution (Å)
4O0C	High resolution crystal structure of uncleaved human L-asparaginase protein	X-RAY DIFFRACTION	1.5
4O0E	Crystal structure of the human L-asparaginase protein T186V mutant	X-RAY DIFFRACTION	1.71
4PVR	Crystal structure of partially-cleaved human l-asparaginase protein in complex with …	X-RAY DIFFRACTION	1.75
4PVS	Crystal structure of fully-cleaved human l-asparaginase protein in complex with …	X-RAY DIFFRACTION	1.84
4PVP	Crystal structure of malonate-bound human L-asparaginase protein	X-RAY DIFFRACTION	1.85
4OSY	STRUCTURE of FULLY-CLEAVED GLYCINE-BOUND HUMAN L-ASPARAGINASE PROTEIN	X-RAY DIFFRACTION	1.91
4O0F	Crystal structure of the human L-asparaginase protein T219A mutant	X-RAY DIFFRACTION	1.92
4O0D	Crystal structure of the human L-asparaginase protein T168S mutant	X-RAY DIFFRACTION	1.95
4OSX	STRUCTURE of UNCLEAVED GLYCINE-BOUND HUMAN L-ASPARAGINASE PROTEIN	X-RAY DIFFRACTION	1.95
4O0H	Crystal structure of human L-asparaginase protein with covalently linked substrate …	X-RAY DIFFRACTION	1.97
4O0G	Crystal structure of the human L-asparaginase protein T219V mutant	X-RAY DIFFRACTION	2.1
4PVQ	Crystal structure of sulfate-bound human l-asparaginase protein	X-RAY DIFFRACTION	2.13
3TKJ	Crystal Structure of Human Asparaginase-like Protein 1 Thr168Ala	X-RAY DIFFRACTION	2.3
4ZM9	Crystal structure of circularly permuted human asparaginase-like protein 1	X-RAY DIFFRACTION	2.51
4ET0	Crystal structure of circularly permuted human asparaginase-like protein 1	X-RAY DIFFRACTION	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L266-F1	94.20	0.89

Human Protein Atlas

Protein class: Enzymes, ENZYME proteins, Hydrolases, Metabolic proteins, Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): microtubules; cytokinetic bridge; nucleoplasm

Antibody reliability (HPA): IH enhanced · IF approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1)

Position	Role
168	nucleophile

Ligand- & substrate-binding residues (2)

Position	Role
196–199	substrate
219–222	substrate

Post-translational modifications (1)

Type	Positions
N-acetylmethionine	1

Mutagenesis-validated functional residues (2)

Position	Phenotype
168	abolishes activation by autocleavage. abolishes enzyme activity.
168	strongly reduced enzyme activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 curated (TAS) of 4; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

4 pathways:

ID	Pathway	Evidence
R-HSA-8964208	Phenylalanine metabolism	curated
R-HSA-1430728	Metabolism	—
R-HSA-71291	Metabolism of amino acids and derivatives	—
R-HSA-8963691	Phenylalanine and tyrosine metabolism	—

MSigDB gene sets: 165 (showing top): MULLIGHAN_NPM1_SIGNATURE_3_UP, TGCGCANK_UNKNOWN, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, LIAO_METASTASIS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_AMINO_ACID_CATABOLIC_PROCESS, LIU_CMYB_TARGETS_UP, LIU_VMYB_TARGETS_UP, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR

GO Biological Process (2): proteolysis (GO:0006508), L-asparagine catabolic process (GO:0006530)

GO Molecular Function (4): asparaginase activity (GO:0004067), beta-aspartyl-peptidase activity (GO:0008798), peptidase activity (GO:0008233), hydrolase activity (GO:0016787)

GO Cellular Component (4): photoreceptor inner segment (GO:0001917), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

3 top-level categories:

Category	Pathways
Phenylalanine and tyrosine metabolism	1
Metabolism	1
Metabolism of amino acids and derivatives	1

GO top-level categories

13 GO namespaces:

Category	Terms
cellular anatomical structure	3
protein metabolic process	1
amino acid catabolic process	1
proteinogenic amino acid catabolic process	1
amidase activity	1
omega peptidase activity	1
threonine-type peptidase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 11 annotations. The rest are phylogenetic / computational / electronic (IEA).

4 experimentally-supported GO terms:

GO term	NS	Evidence
cytoplasm	CC	direct assay
nucleus	CC	high-throughput assay
asparaginase activity	MF	direct assay
beta-aspartyl-peptidase activity	MF	direct assay

Protein interactions and networks

STRING

showing 16 of 704 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASRGL1	ASPG	Q86U10	937
ASRGL1	KIAA2013	Q8IYS2	456
ASRGL1	PPP1R26	Q5T8A7	438
ASRGL1	FSCN3	Q9NQT6	429
ASRGL1	ACBD5	Q5T8D3	411
ASRGL1	RCC2	Q9P258	370
ASRGL1	GPCPD1	Q9NPB8	370
ASRGL1	MPRIP	Q6WCQ1	370
ASRGL1	IDH3B	O43837	370
ASRGL1	VPS52	Q8N1B4	370
ASRGL1	OTUD4	Q01804	366
ASRGL1	MSANTD1	Q6ZTZ1	361
ASRGL1	SLC7A5	Q01650	358
ASRGL1	MYO1D	O94832	358
ASRGL1	VWA8	A3KMH1	327
ASRGL1	PDXDC1	Q6P996	327

IntAct

Human interaction partners of ASRGL1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

5 partners by confidence:

Partner	Interaction type	MIscore	Records
ERBB2	physical association	0.370	1
GSK3B	physical association	0.370	1
MAP2K5	physical association	0.370	1
MAPK8IP2	physical association	0.370	1
TAB1	physical association	0.370	1

BioGRID (32 interactions; top human partners by supporting records): NMI (Affinity Capture-MS; 3 records), MDM4 (Affinity Capture-MS; 2 records), ERBB2 (Two-hybrid), GSK3B (Two-hybrid), MAP2K5 (Two-hybrid), MAPK8IP2 (Two-hybrid), PARP1 (Affinity Capture-MS), PIK3R6 (Affinity Capture-MS), PLD2 (Affinity Capture-MS), PLEKHA4 (Affinity Capture-MS), POLI (Reconstituted Complex), PQLC2L (Affinity Capture-MS), PRNP (Affinity Capture-MS), PROSC (Co-fractionation), S100P (Co-fractionation)

Disease & clinical

Genetic variants

Variant evidence for ASRGL1: 309 ClinVar records (1 pathogenic / likely pathogenic); 11 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

309 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	178
Likely benign	113
Benign	13

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	Likely pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore ASRGL1’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 37 predictions of 881):

Position(s)	Effect	Δscore	Sites
11:62338168–62338169	donor_loss	1.0000	5
11:62356979–62356980	acceptor_gain	1.0000	2
11:62356985–62356986	acceptor_loss	1.0000	6
11:62357145–62357146	donor_loss	1.0000	5
11:62389127	acceptor_gain	1.0000
11:62337575–62337576	donor_loss	0.9900	5
11:62353991	donor_gain	0.9900
11:62356323–62356324	acceptor_loss	0.9900	5
11:62356468–62356469	donor_loss	0.9900	6
11:62371103	acceptor_gain	0.9900

AlphaMissense

655 missense substitutions predicted likely pathogenic (of 1,996 scored), across 192 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D199	8	0.971	0.987
D78	8	0.908	0.967
D175	8	0.896	0.969
H8	8	0.871	0.966
M82	8	0.703	0.844
E56	7	0.954	0.984
F61	7	0.947	0.985
W285	7	0.899	0.954
E223	7	0.885	0.968
F125	7	0.853	0.953
N62	7	0.828	0.975
H114	7	0.786	0.884
D210	7	0.786	0.845
G220	6	0.956	0.984
G222	6	0.956	0.978
G66	6	0.928	0.976
G198	6	0.923	0.958
R196	6	0.915	0.984
G188	6	0.904	0.957
T168	6	0.895	0.968

HPA cancer prognostics

RNA cancer specificity: Cancer enhanced (Uterine Corpus Endometrial Carcinoma)

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	2.11e-08
Kidney Renal Papillary Cell Carcinoma (TCGA)	favorable	4.71e-06
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	0.000414

Disease associations

OMIM: gene MIM:609212 | disease phenotypes:

GenCC curated gene-disease

1 curated gene-disease records:

Disease	Classification	Inheritance	Records
inherited retinal dystrophy	Limited	Autosomal recessive

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (1 panels, 0 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

1 panels:

Panel	Rating
Retinal disorders	amber

Mondo (1): inherited retinal dystrophy (MONDO:0019118)

GWAS associations

11 associations:

Study	Trait	p-value
GCST012020_83	Serum metabolite levels	2e-12
GCST012021_39	Serum metabolite levels	2e-12
GCST001737_10	Chronic obstructive pulmonary disease-related biomarkers	1e-10
GCST006979_621	Heel bone mineral density	1e-9
GCST005956_18	Waist-to-hip ratio adjusted for BMI	1e-8
GCST90020027_702	Waist-hip index	5e-8
GCST005962_16	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1e-7
GCST008154_32	Trunk fat mass	3e-7
GCST005962_2	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	5e-7
GCST005956_28	Waist-to-hip ratio adjusted for BMI	2e-6
GCST008157_13	Body fat mass	4e-6

EFO canonical traits (from GWAS)

5 canonical traits:

EFO ID	Trait name
EFO:0005080	CC16 measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0009270	heel bone mineral density

MeSH disease descriptors

1 disease descriptors:

Descriptor	Name	Tree numbers
D058499	Retinal Dystrophies	C11.768.585.658

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

52 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression	3
bisphenol A	decreases expression, affects expression, affects cotreatment	2
sodium arsenite	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	2
Progesterone	affects cotreatment, increases expression, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Cyclosporine	decreases expression	2
Genistein	affects cotreatment, decreases expression, increases expression, increases cleavage, increases reaction	2
aristolochic acid I	increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
o,p’-DDT	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	increases expression	1
4-aminophenylarsenoxide	decreases reaction, affects binding	1
chromium hexavalent ion	decreases expression, increases abundance	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
bisphenol S	decreases expression, affects cotreatment	1
jinfukang	increases expression, affects cotreatment	1
LDN 193189	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

40 trials:

NCT	Phase	Status	Title
NCT04224207	Phase 3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	Phase 3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT03763227	Phase 2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	Phase 2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	Phase 2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05902962	Phase 1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	Phase 1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	Phase 1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT04855045	Phase 2/3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	Phase 1/2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	Phase 1/2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	Phase 1/2	ACTIVE_NOT_RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	Phase 1/2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	Phase 1/2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	Phase 1/2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	Early Phase 1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT07656753	Early Phase 1	RECRUITING	Safety and Efficacy Study of PUMCH-E111 Injection in Subjects With RLBP1 Related Inherited Retinal Dystrophy
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
NCT02983305	Not specified	COMPLETED	Optical Head-Mounted Display Technology for Low Vision Rehabilitation
NCT03592017	Not specified	COMPLETED	Performance of Long-wavelength Autofluorescence Imaging
NCT03662386	Not specified	TERMINATED	Prospective Analysis of Genotype-phenotype Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
NCT03691168	Not specified	UNKNOWN	Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies
NCT03843840	Not specified	COMPLETED	Dual Wavelength OCT
NCT03853252	Not specified	COMPLETED	iPS Cells of Patients for Models of Retinal Dystrophies
NCT05130385	Not specified	UNKNOWN	High Resolution Optical Coherence Tomography
NCT05294978	Not specified	RECRUITING	EyeConic: Qualification for Cone-Optogenetics
NCT05573984	Not specified	ACTIVE_NOT_RECRUITING	Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
NCT05793515	Not specified	COMPLETED	Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
NCT05820100	Not specified	COMPLETED	Observational Study to Assess the Reliability and Validity of the MLYMT and MLSDT
NCT05976139	Not specified	RECRUITING	Micropulsed Laser in Patients With Macular Oedema in Retinal Dystrophies
NCT06162585	Not specified	ACTIVE_NOT_RECRUITING	Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE Study
NCT06177977	Not specified	RECRUITING	SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
NCT06375239	Not specified	RECRUITING	Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
NCT06908161	Not specified	NOT_YET_RECRUITING	Functional Assessments in Vision Impairment
NCT07085533	Not specified	RECRUITING	Natural History Study of Inherited Retinal Diseases
NCT07502664	Not specified	RECRUITING	Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
NCT07529041	Not specified	ENROLLING_BY_INVITATION	Real-time Acoustic Biofeedback for Enhancing Fixation Stability: A Proof-of-concept Study to Improve Ophthalmic Imaging Diagnostic Quality