AIPL1

Summary

AIPL1 (AIP like 1 HSP90 co-chaperone, HGNC:359) is a protein-coding gene on chromosome 17p13.2, encoding Aryl-hydrocarbon-interacting protein-like 1 (Q9NZN9). May be important in protein trafficking and/or protein folding and stabilization.

Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 23746 — RefSeq curated summary.

At a glance

• Gene–disease (curated): AIPL1-related retinopathy (Definitive, ClinGen) — +3 more curated relationships
• GWAS associations: 8
• Clinical variants (ClinVar): 661 total — 50 pathogenic, 35 likely-pathogenic (top 5% of genes corpus-wide)
• GTEx eGene: eQTL in 1 tissue, sQTL in 0 (q < 0.05)
• Phenotypes (HPO): 47
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.01 (unconstrained)
• MANE Select transcript: NM_014336

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:359
Approved symbol	AIPL1
Name	AIP like 1 HSP90 co-chaperone
Location	17p13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000129221
Ensembl biotype	protein_coding
OMIM	604392
Entrez	23746

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 11 protein_coding, 1 nonsense_mediated_decay

MANE Select: ENST00000381129

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 9, TSL 2: 1, TSL 3: 1

ENST00000381129, ENST00000250087, ENST00000381128, ENST00000570466, ENST00000570584, ENST00000571740, ENST00000574506, ENST00000574913, ENST00000575265, ENST00000576307, ENST00000576776, ENST00001136462

RefSeq mRNA: 8 — MANE Select: NM_014336 NM_001033054, NM_001033055, NM_001285399, NM_001285400, NM_001285401, NM_001285402, NM_001285403, NM_014336

CCDS: CCDS11075, CCDS32539, CCDS32540, CCDS67130, CCDS67131, CCDS67132, CCDS67133

Canonical transcript exons

ENST00000381129 — 6 exons

Exon	Start	End
ENSE00002643632	6435009	6435121
ENSE00002656031	6423738	6425830
ENSE00003565902	6426881	6427057
ENSE00003574014	6426615	6426756
ENSE00003662461	6433919	6434098
ENSE00003675057	6428318	6428506

Expression profiles

Bgee: expression breadth broad, 62 present calls, max score 76.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.1221 / max 917.3371, expressed in 56 samples.

Highest expression (Bgee): buccal mucosa cell, pancreatic ductal cell, tendon of biceps brachii, retina, pigmented layer of retina.

Genetic regulation across tissues (GTEx eQTL / sQTL)

AIPL1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 1 tissue and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

1 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	eqtl	1.3e-15	+0.30	17:6575353:G:A

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
164048	1.9849	54
164049	0.1372	8

Top tissues by expression

showing 100 of 263 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	76.92	silver quality
pancreatic ductal cell	CL:0002079	75.06	silver quality
tendon of biceps brachii	UBERON:0008188	65.77	gold quality
retina	UBERON:0000966	64.31	gold quality
pigmented layer of retina	UBERON:0001782	64.30	gold quality
ileal mucosa	UBERON:0000331	60.40	silver quality
mucosa of urinary bladder	UBERON:0001259	59.25	gold quality
endothelial cell	CL:0000115	58.32	gold quality
tibialis anterior	UBERON:0001385	58.11	silver quality
secondary oocyte	CL:0000655	57.79	gold quality
pineal body	UBERON:0001905	56.80	silver quality
deltoid	UBERON:0001476	56.66	silver quality
decidua	UBERON:0002450	56.55	gold quality
nasal cavity epithelium	UBERON:0005384	56.10	gold quality
myocardium	UBERON:0002349	55.90	gold quality
parotid gland	UBERON:0001831	54.33	gold quality
tibia	UBERON:0000979	54.21	gold quality
medial globus pallidus	UBERON:0002477	54.04	gold quality
lateral nuclear group of thalamus	UBERON:0002736	53.95	gold quality
epithelial cell of pancreas	CL:0000083	53.80	silver quality
choroid plexus epithelium	UBERON:0003911	53.77	silver quality
heart right ventricle	UBERON:0002080	53.24	gold quality
globus pallidus	UBERON:0001875	52.93	gold quality
hair follicle	UBERON:0002073	52.86	gold quality
lateral globus pallidus	UBERON:0002476	52.85	gold quality
substantia nigra pars reticulata	UBERON:0001966	52.36	gold quality
quadriceps femoris	UBERON:0001377	51.40	gold quality
skin of abdomen	UBERON:0001416	50.72	gold quality
vastus lateralis	UBERON:0001379	50.70	gold quality
cervix squamous epithelium	UBERON:0006922	50.57	gold quality
upper leg skin	UBERON:0004262	50.08	gold quality
trabecular bone tissue	UBERON:0002483	49.97	gold quality
substantia nigra pars compacta	UBERON:0001965	49.84	gold quality
biceps brachii	UBERON:0001507	49.52	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.49	gold quality
oviduct epithelium	UBERON:0004804	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
skin of leg	UBERON:0001511	49.21	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
zone of skin	UBERON:0000014	48.77	gold quality
eye	UBERON:0000970	48.61	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
cervix epithelium	UBERON:0004801	48.44	gold quality
ventricular zone	UBERON:0003053	48.39	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality
upper arm skin	UBERON:0004263	48.06	gold quality
tongue squamous epithelium	UBERON:0006919	47.92	gold quality
epithelium of bronchus	UBERON:0002031	47.90	gold quality
bronchus	UBERON:0002185	47.60	gold quality
thymus	UBERON:0002370	47.42	gold quality
periodontal ligament	UBERON:0008266	47.14	gold quality
diaphragm	UBERON:0001103	47.05	gold quality
gluteal muscle	UBERON:0002000	47.03	gold quality
kidney epithelium	UBERON:0004819	47.02	gold quality
triceps brachii	UBERON:0001509	47.01	gold quality
renal glomerulus	UBERON:0000074	46.99	gold quality
metanephric glomerulus	UBERON:0004736	46.96	gold quality
nephron tubule	UBERON:0001231	46.88	gold quality
pituitary gland	UBERON:0000007	46.72	gold quality
middle temporal gyrus	UBERON:0002771	46.37	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	46.09	silver quality
bronchial epithelial cell	CL:0002328	45.89	gold quality
layer of synovial tissue	UBERON:0007616	45.76	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	45.35	gold quality
inferior olivary complex	UBERON:0002127	45.14	gold quality
amniotic fluid	UBERON:0000173	45.03	gold quality
hypothalamus	UBERON:0001898	44.34	gold quality
palpebral conjunctiva	UBERON:0001812	44.31	gold quality
metanephros	UBERON:0000081	44.18	gold quality
squamous epithelium	UBERON:0006914	44.08	gold quality
tendon	UBERON:0000043	43.81	gold quality
gingiva	UBERON:0001828	43.68	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
cartilage tissue	UBERON:0002418	43.35	gold quality
adenohypophysis	UBERON:0002196	43.29	gold quality
temporal lobe	UBERON:0001871	43.26	gold quality
amygdala	UBERON:0001876	43.20	gold quality
entorhinal cortex	UBERON:0002728	43.20	gold quality
oocyte	CL:0000023	43.18	gold quality
epithelium of esophagus	UBERON:0001976	42.87	gold quality
esophagus mucosa	UBERON:0002469	42.85	gold quality
gingival epithelium	UBERON:0001949	42.69	gold quality
male germ cell	CL:0000015	42.64	gold quality
islet of Langerhans	UBERON:0000006	42.63	gold quality
cranial nerve II	UBERON:0000941	42.61	silver quality
placenta	UBERON:0001987	42.41	gold quality
colonic mucosa	UBERON:0000317	41.96	gold quality
medulla oblongata	UBERON:0001896	41.74	gold quality
subthalamic nucleus	UBERON:0001906	41.66	gold quality
epithelium of mammary gland	UBERON:0003244	41.64	gold quality
sperm	CL:0000019	41.51	gold quality
sural nerve	UBERON:0015488	41.39	gold quality
bone marrow	UBERON:0002371	41.38	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
saliva-secreting gland	UBERON:0001044	41.23	silver quality
testis	UBERON:0000473	41.16	gold quality
right testis	UBERON:0004534	41.10	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-137537	yes	6253.13
E-MTAB-7316	yes	5053.80
E-GEOD-135922	yes	4603.58
E-MTAB-11121	yes	2303.89
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Tissue enriched

44 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Retina	tissue	775.1	high
Choroid plexus	tissue	2.9
Putamen	tissue	2.0
Cerebral cortex	tissue	1.9	not detected
Insular cortex	tissue	1.9
Nucleus accumbens	tissue	1.8
Retrosplenial cortex	tissue	1.8
Motor cortex	tissue	1.7
Basal ganglia	tissue	1.7	not detected
Ventral forebrain	tissue	1.7
Locus coeruleus	tissue	1.6
Prefrontal cortex	tissue	1.5
Hippocampal formation	tissue	1.5
Entorhinal cortex	tissue	1.5
Olfactory bulb	tissue	1.5
Pons	tissue	1.4
Midbrain	tissue	1.4
Superior colliculi	tissue	1.4
Retrosplenial and cingulate cortex	tissue	1.4
Temporal cortex	tissue	1.4
Amygdala	tissue	1.3
Hippocampus	tissue	1.3	not detected
Postcentral gyrus	tissue	1.3
Somatosensory cortex	tissue	1.3
Septum	tissue	1.2
Occipital cortex	tissue	1.2
Thalamus	tissue	1.1
Substantia nigra	tissue	1.0
Spinal cord	tissue	1.0
Corpus callosum	tissue	1.0
Medulla oblongata	tissue	0.9
Hypothalamus	tissue	0.9
Periaqueductal gray	tissue	0.8
Bone marrow	tissue	0.6	not detected
Cerebellum	tissue	0.5	not detected
Skin 1	tissue	0.4	not detected
Testis	tissue	0.4	not detected
Salivary gland	tissue	0.4	not detected
Esophagus	tissue	0.2	not detected
Pituitary gland	tissue	0.1
Epididymis	tissue	0.1	not detected
Thyroid gland	tissue	0.1	not detected
Spleen	tissue	0.1	not detected
Appendix	tissue	0.1	not detected

Brain sub-regions (HPA Brain Atlas): detected in 188; highest nTPM — Supraoptic nucleus (3.1), Temporal white matter (2.8), Centromedial thalamic nucleus (2.4), Ventromedial nucleus (2.4), Nucleus rhomboideus (2.3).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting AIPL1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 62 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-548AV-5P	99.60	70.84	2107
HSA-MIR-548K	99.60	70.84	2107
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-8054	99.48	70.81	2084
HSA-MIR-19B-1-5P	99.36	67.07	1669
HSA-MIR-19B-2-5P	99.36	67.07	1669

Functional genomics

gnomAD constraint: pLI 7.01e-07, LOEUF 1.01, missense Z 0.421 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000381129 — one region, missense o/e 0.96.

Literature-anchored findings (GeneRIF, showing 33)

• Phenotype-genotype correlations of AIPL1-associated Leber’s congenital amaurosis (LCA) (PMID:11548141)
• AIPL1 performs a function essential to the maintenance of rod photoreceptor function (PMID:11929855)
• The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1 in the retina. (PMID:12374762)
• Interacts with and aids in processing of farnesylated proteins in the retina. (PMID:14555765)
• interaction between NUB1 and AIPL1 is affected in patients with Leber congenital amaurosis (PMID:15081406)
• Plays role in cytosolic stability and/or nuclear transport of NUB1 during regulation of cell cyle during photoreceptor development. (PMID:15180275)
• The phenotype of LCA (Leber congenital amaurosis) in patients with AIPL1 mutations is relatively severe, with a maculopathy in most patients and keratoconus and cataract in a large subset. (PMID:15249368)
• Data show that aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) can modulate protein translocation and act in a chaperone-like manner and suggest that AIPL1 is an important modulator of NEDD8 ultimate buster protein 1 (NUB1) cellular function. (PMID:15347646)
• aryl hydrocarbon interacting protein-like 1 (AIPL1) mutations may have a role in inherited retinal dystrophies (PMID:15469903)
• AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 mutations may have roles in juvenile retinitis pigmentosa (PMID:16272259)
• AIPL1 may cooperate with both Hsp70 and Hsp90 within retina-specific chaperone heterocomplex, and specialized role of AIPL1 in photoreceptors may therefore be facilitated by these molecular chaperones. (PMID:18408180)
• Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. (PMID:19959640)
• AIPL1 is needed for the proper functioning and survival of cone photoreceptors. (PMID:20042464)
• AIPL1-Leber congenital amaurosis (LCA), unlike some other forms of LCA with equally severe visual disturbance, shows profound loss of foveal as well as extrafoveal photoreceptors. (PMID:20702822)
• Patients with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs (electroretinography) characterized by slow insensitive scotopic responses. (PMID:21900377)
• implicate FAT10 in retinal cell biology and Leber congenital amaurosis pathogenesis, and reveal a new role of AIPL1 in regulating the FAT10 pathway. (PMID:22347407)
• The unique proline-rich domain of AIPL1 is important for its chaperone function as its truncation severely affects the ability of AIPL1 to bind non-native proteins. (PMID:23418749)
• In this chapter, using results obtained from multiple lines of animal models, we discuss the role for AIPL1 in photoreceptors. (PMID:24664679)
• Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families. (PMID:25148430)
• The authors established a transgenic mouse model for cone-rod dystrophy carrying human AIPL1 gene with deletion in the C-terminal proline-rich region. (PMID:25274777)
• Gene therapy based approach may be worthy of consideration in a small group of selected patients with preserved outer retinal structure in AIPL1 Leber’s congenital amaurosis. (PMID:25596619)
• Findings suggest that AIPL1 function in retinal photoreceptor cells is not related to the role of EB proteins in microtubule dynamics or primary ciliogenesis, but their association may be related to a specific role in the retinal photoreceptors. (PMID:25799540)
• findings offer critical insights into the mechanisms that underlie AIPL1 function in health and disease, and highlight the structural and functional diversity of the FKBPs (PMID:28739921)
• This review summarizes important recent advances in understanding the mechanisms underlying normal function of AIPL1 and the protein perturbations caused by pathogenic mutations (PMID:28939106)
• Authors characterized the functional deficits of AIPL1 variations, some of which induce aberrant pre-mRNA AIPL1 splicing leading to the production of alternative AIPL1 isoforms and investigated the ability of the AIPL1 variants to mediate an interaction with HSP90 and modulate the rod cGMP PDE6 stability and activity. (PMID:28973376)
• AIPL1 functions as a photoreceptor-specific molecular co-chaperone that interacts specifically with the molecular chaperones HSP90 and HSP70 to facilitate the correct folding and assembly of the retinal cGMP phosphodiesterase (PDE6) holoenzyme. The absence of AIPL1 leads to a dramatic degeneration of rod and cone cells and a complete loss of any light-dependent electrical response. Review. (PMID:29721967)
• A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. (PMID:31342828)
• This study sheds new light on the versatility of tetratricopeptide repeat domain (TPR) domains in protein folding by describing a novel TPR-protein binding partner, Pgamma, and revealing that this subunit imparts AIPL1 selectivity for its client. (PMID:31488544)
• Mutation in the AIPL1 gene is associated with Leber congenital amaurosis 4. (PMID:31576779)
• Two novel compound heterozygous AIPL1 variants were detected in two patients with cone-rod dystrophy (PMID:31703130)
• Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. (PMID:32214115)
• Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases. (PMID:32976546)
• Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration. (PMID:33067476)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	aipl1	ENSDARG00000075067
mus_musculus	Aipl1	ENSMUSG00000040554
rattus_norvegicus	Aipl1	ENSRNOG00000007889
drosophila_melanogaster	CG1847	FBGN0030345
caenorhabditis_elegans		WBGENE00016966

Paralogs (1): AIP (ENSG00000110711)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:2148800) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 20 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal eye electrophysiology	2
retina photoreceptor degeneration	2
abnormal retina photoreceptor morphology	1
abnormal retina cone cell morphology	1
retina degeneration	1
decreased retina photoreceptor cell number	1
abnormal photoreceptor outer segment morphology	1
abnormal photoreceptor inner segment morphology	1
abnormal retina outer plexiform layer morphology	1
abnormal rod electrophysiology	1
abnormal Muller cell morphology	1
abnormal retina neuronal layer morphology	1
abnormal retina bipolar cell morphology	1
decreased retina cone cell number	1
retina rod cell degeneration	1
thin retina outer nuclear layer	1
abnormal visual evoked potential	1
absent visual evoked potential	1
abnormal electroretinogram waveform feature	1
increased susceptibility to age-related retinal degeneration	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
Papio cynocephalus	Q95MN8	100.0%	Diamond
Macaca mulatta	Q95MP0	100.0%	Diamond
Pan paniscus	Q95MN9	98.5%	Diamond
Chlorocebus aethiops	O97628	98.2%	Diamond
Saimiri boliviensis boliviensis	Q95MN7	98.2%	Diamond
Bos taurus	Q7YRC1	93.6%	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
PIMREG	protein-coding	54478
PITPNM3	protein-coding	83394
KIAA0753	protein-coding	9851

Protein

Protein identifiers

Aryl-hydrocarbon-interacting protein-like 1 — Q9NZN9 (reviewed: Q9NZN9)

All UniProt accessions (8): Q9NZN9, F1T0B5, F1T0B6, F1T0C4, I3L3R9, J3KPI5, K7EPF4, Q7Z3H1

UniProt curated annotations — full annotation on UniProt →

Function. May be important in protein trafficking and/or protein folding and stabilization.

Subunit / interactions. Interacts with NUB1.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.

Disease relevance. Leber congenital amaurosis 4 (LCA4) [MIM:604393] A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9NZN9-1	1	yes
Q9NZN9-2	2
Q9NZN9-3	3, AIPL2
Q9NZN9-4	4
Q9NZN9-5	5

RefSeq proteins (8): NP_001028226, NP_001028227, NP_001272328, NP_001272329, NP_001272330, NP_001272331, NP_001272332, NP_055151* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR039663	AIP/AIPL1/TTC9	Family
IPR046357	PPIase_dom_sf	Homologous_superfamily
IPR056277	PPIase_AIP	Domain

Pfam: PF23322

UniProt features (49 total): helix 14, strand 9, sequence variant 7, mutagenesis site 6, splice variant 4, repeat 3, sequence conflict 2, chain 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

6 structures by resolution:

PDB	Title	Method	Resolution (Å)
6PX0	Crystal structure of the TPR domain of human aryl hydrocarbon receptor-interacting …	X-RAY DIFFRACTION	1.55
5U9J	Crystal structure of the FKBP domain of human aryl hydrocarbon receptor-interacting …	X-RAY DIFFRACTION	2.1
5U9I	Crystal structure of the FKBP domain of human aryl hydrocarbon receptor-interacting …	X-RAY DIFFRACTION	2.3
5V35	Crystal structure of V71F mutant of the FKBP domain of human aryl hydrocarbon …	X-RAY DIFFRACTION	2.5
5U9A	Crystal structure of the FKBP domain of human aryl hydrocarbon receptor-interacting …	X-RAY DIFFRACTION	2.7
5U9K	Crystal structure of V71F mutant of the FKBP domain of human aryl hydrocarbon …	X-RAY DIFFRACTION	2.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZN9-F1	83.42	0.62

Human Protein Atlas

Protein class: Predicted intracellular proteins, Disease related genes, Human disease related genes, Eye disease

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nuclear speckles; cytosol

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.

Mutagenesis-validated functional residues (6)

Position	Phenotype
53	no interaction with nub1.
79	no interaction with nub1.
96	no interaction with nub1.
197	no significant effect on interaction with nub1.
206	no significant effect on interaction with nub1.
262	no interaction with nub1.

Function

Pathways and Gene Ontology

Reactome pathways

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

MSigDB gene sets: 168 (showing top): PEREZ_TP63_TARGETS, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_PHOTOTRANSDUCTION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM5, GOBP_PHOTOTRANSDUCTION_VISIBLE_LIGHT, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_RADIATION, GOBP_DETECTION_OF_LIGHT_STIMULUS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_RADIATION, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS

GO Biological Process (2): visual perception (GO:0007601), protein farnesylation (GO:0018343)

GO Molecular Function (3): farnesylated protein binding (GO:0001918), peptidyl-prolyl cis-trans isomerase activity (GO:0003755), protein binding (GO:0005515)

GO Cellular Component (3): photoreceptor inner segment (GO:0001917), nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

9 GO namespaces:

Category	Terms
cellular anatomical structure	2
sensory perception of light stimulus	1
protein prenylation	1
protein binding	1
cis-trans isomerase activity	1
catalytic activity, acting on a protein	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 9 annotations. The rest are phylogenetic / computational / electronic (IEA).

4 experimentally-supported GO terms:

GO term	NS	Evidence
protein farnesylation	BP	direct assay
cytoplasm	CC	direct assay
nucleus	CC	direct assay
farnesylated protein binding	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 794 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AIPL1	GUCY2D	Q02846	949
AIPL1	RPGRIP1	Q96KN7	923
AIPL1	SPATA7	Q9P0W8	917
AIPL1	NUB1	Q9Y5A7	910
AIPL1	TULP1	O00294	906
AIPL1	RPE65	Q16518	898
AIPL1	CRX	O43186	892
AIPL1	LRAT	O95237	885
AIPL1	RDH12	Q96NR8	877
AIPL1	RD3	Q7Z3Z2	859
AIPL1	LCA5	Q86VQ0	850
AIPL1	CEP290	O15078	829
AIPL1	IMPDH1	P20839	822
AIPL1	PITPNM3	Q9BZ71	799
AIPL1	PRPH2	P23942	788

IntAct

Human interaction partners of AIPL1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

20 partners by confidence:

Partner	Interaction type	MIscore	Records
PDE5A	association	0.640	2
LBX1	physical association	0.560	3
PLSCR3	physical association	0.560	3
SMAP1	physical association	0.560	3
TXNL4B	physical association	0.560	3
NUB1	physical association	0.510	2
SUPT5H	association	0.510	2
TINF2	physical association	0.510	2
ACD	physical association	0.370	1
POT1	physical association	0.370	1
BLM	physical association	0.000	1
CEP43	physical association	0.000	1
FKBP15	physical association	0.000	1
MIOS	physical association	0.000	1
PATZ1	physical association	0.000	1
RADX	physical association	0.000	1
SEC16A	physical association	0.000	1
TP53	physical association	0.000	1
WASF1	physical association	0.000	1
WDR24	physical association	0.000	1

BioGRID (47 interactions; top human partners by supporting records): NUB1 (Affinity Capture-Western; 7 records), BLM (Affinity Capture-MS; 2 records), HSPA8 (Co-fractionation; 2 records), PDE5A (Affinity Capture-MS; 2 records), ACD (Two-hybrid), CXorf57 (Affinity Capture-MS), DTX2 (Proximity Label-MS), EDRF1 (Affinity Capture-MS), FGFR1OP (Affinity Capture-MS), FKBP15 (Affinity Capture-MS), HERC2 (Affinity Capture-MS), HIST2H3PS2 (Affinity Capture-MS), HSP90AA1 (Reconstituted Complex), HSPA4 (Co-fractionation), KPNA5 (Affinity Capture-MS)

Protein complexes (CORUM) (4)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

4 complexes by size:

Complex	Subunits	Members
★ AIPL1 chaperone complex	4	AIPL1, HSP90AA1, HSPA1A, HSPA8
★ AIPL1-PDE6 (PDE6A, PDE6B, PDE6G) complex	4	PDE6A, PDE6B, PDE6G, AIPL1
★ AIPL1-PDE6 (PDE6C, PDE6H) complex	3	AIPL1, PDE6C, PDE6H
★ AIPL1-PDE5A complex	2	PDE5A, AIPL1

Disease & clinical

Genetic variants

Variant evidence for AIPL1: 661 ClinVar records (85 pathogenic / likely pathogenic); 54 ClinGen expert-panel interpretations; 8 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	50
Likely pathogenic	35
Uncertain significance	269
Likely benign	197
Benign	37

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 85 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
5565	NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)	Pathogenic	reviewed by expert panel	33
65711	NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser)	Pathogenic	reviewed by expert panel	8
5566	NM_014336.5(AIPL1):c.1010_1011del (p.Glu337fs)	Pathogenic	reviewed by expert panel	6
65709	NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro)	Pathogenic	reviewed by expert panel	5
99798	NM_014336.5(AIPL1):c.277-2A>G	Pathogenic	reviewed by expert panel	5
916622	NM_014336.5(AIPL1):c.421C>T (p.Gln141Ter)	Pathogenic	reviewed by expert panel	5
99804	NM_014336.5(AIPL1):c.487C>T (p.Gln163Ter)	Pathogenic	reviewed by expert panel	4
574505	NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg)	Pathogenic	reviewed by expert panel	4
631782	NM_014336.5(AIPL1):c.94C>T (p.Arg32Ter)	Pathogenic	reviewed by expert panel	3
1451640	NM_014336.5(AIPL1):c.276+1G>A	Pathogenic	reviewed by expert panel	3
2736405	NM_014336.5(AIPL1):c.809G>A (p.Arg270His)	Pathogenic	reviewed by expert panel	3
4087767	NM_014336.5(AIPL1):c.618_619dup (p.Cys207fs)	Pathogenic	reviewed by expert panel	1
4087769	NM_014336.5(AIPL1):c.126T>A (p.Cys42Ter)	Pathogenic	reviewed by expert panel	1
4087770	NM_014336.5(AIPL1):c.216G>A (p.Trp72Ter)	Pathogenic	reviewed by expert panel	1
4879895	NM_014336.5(AIPL1):c.276+2T>C	Pathogenic	reviewed by expert panel	1

Per-variant reference — Sugi Variant

Explore AIPL1’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.

ClinGen expert-panel interpretations (54)

Expert ACMG interpretations from Leber Congenital Amaurosis/early onset Retinal Dystrophy VCEP for AIPL1-related retinopathy — a higher-authority tier than individual ClinVar submissions.

Assertion	Variants
Pathogenic	15
Likely Pathogenic	9
Uncertain Significance	16
Likely Benign	3
Benign	11

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 26 predictions of 453):

Position(s)	Effect	Δscore	Sites
17:6425831–6425832	acceptor_loss	1.0000	4
17:6426613–6426614	donor_loss	1.0000	4
17:6426757–6426758	acceptor_loss	1.0000	5
17:6426762	acceptor_gain	1.0000
17:6426880	donor_loss	1.0000
17:6433917–6433918	donor_loss	1.0000	6
17:6434076	acceptor_gain	1.0000	2
17:6434083	acceptor_gain	1.0000
17:6425832	acceptor_loss	0.9900
17:6426614	donor_loss	0.9900

AlphaMissense

871 missense substitutions predicted likely pathogenic (of 2,511 scored), across 239 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
D286	8	0.983	0.991
D50	8	0.963	0.985
N235	8	0.960	0.995
F149	8	0.953	0.995
F67	8	0.946	0.992
F87	8	0.946	0.997
N186	8	0.936	0.990
F35	8	0.917	0.989
F127	8	0.914	0.985
H119	8	0.863	0.962
N279	8	0.854	0.968
H182	8	0.830	0.993
D136	8	0.767	0.912
C121	7	0.989	0.995
C89	7	0.973	0.997
E83	7	0.964	0.990
W278	7	0.958	0.995
F37	7	0.957	0.993
R105	7	0.956	0.997
W72	7	0.951	0.997

HPA cancer prognostics

RNA cancer specificity: Cancer enriched (Testicular Germ Cell Tumor)

Disease associations

OMIM: gene MIM:604392 | disease phenotypes: MIM:604393, MIM:268000, MIM:204000, MIM:120970

GenCC curated gene-disease

3 curated gene-disease records:

Disease	Classification	Inheritance	Records
Leber congenital amaurosis 4	Definitive	Autosomal recessive	2
AIPL1-related retinopathy	Strong	Semidominant
Leber congenital amaurosis	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

2 validity classifications:

Disease	Classification	Inheritance
AIPL1-related retinopathy	Definitive	AR
inherited retinal dystrophy	Disputed	AD

Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (7 panels, 2 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

7 panels:

Panel	Rating
DDG2P	green
Retinal disorders	green
Hypotonic infant	amber
Intellectual disability	amber
Leukodystrophy, childhood onset	amber
Paediatric disorders	amber
Structural eye disease	amber

Mondo (7): Leber congenital amaurosis 4 (MONDO:0011458), AIPL1-related retinopathy (MONDO:0100438), retinitis pigmentosa (MONDO:0019200), Leber congenital amaurosis (MONDO:0018998), inherited retinal dystrophy (MONDO:0019118), retinal disorder (MONDO:0005283), cone-rod dystrophy 2 (MONDO:0007362)

Orphanet (4): Retinitis pigmentosa (Orphanet:791), Leber congenital amaurosis (Orphanet:65), OBSOLETE: Inherited retinal disorder (Orphanet:71862), Cone rod dystrophy (Orphanet:1872)

HPO phenotypes

47 phenotypes (HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000365	Hearing impairment
HP:0000505	Visual impairment
HP:0000510	Rod-cone dystrophy
HP:0000512	Abnormal electroretinogram
HP:0000518	Cataract
HP:0000529	Progressive visual loss
HP:0000540	Hypermetropia
HP:0000543	Optic disc pallor
HP:0000548	Cone/cone-rod dystrophy
HP:0000551	Color vision defect
HP:0000563	Keratoconus
HP:0000603	Central scotoma
HP:0000613	Photophobia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000662	Nyctalopia
HP:0000729	Autistic behavior
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field
HP:0001141	Severely reduced visual acuity
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001419	X-linked recessive inheritance
HP:0001483	Eye poking
HP:0002084	Encephalocele
HP:0002269	Abnormality of neuronal migration
HP:0004374	Hemiplegia/hemiparesis
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis
HP:0007401	Macular atrophy
HP:0007641	Dyschromatopsia
HP:0007663	Reduced visual acuity
HP:0007688	Undetectable light- and dark-adapted electroretinogram
HP:0007703	Abnormal retinal pigmentation
HP:0007737	Spicular pigmentation of the retina
HP:0007843	Attenuation of retinal blood vessels
HP:0012043	Pendular nystagmus
HP:0012426	Optic disc drusen
HP:0012508	Metamorphopsia
HP:0012795	Abnormal optic disc morphology
HP:0030211	Slow pupillary light response
HP:0030466	Abnormal full-field electroretinogram
HP:0031605	Abnormal fundus pigmentation

GWAS associations

8 associations:

Study	Trait	p-value
GCST006012_1	C-reactive protein levels	2e-9
GCST009163_3	Hormone measurements	6e-9
GCST011350_16	C-reactive protein levels	3e-8
GCST003075_82	Cognitive decline rate in late mild cognitive impairment	8e-7
GCST002924_3	Paclitaxel-induced cytotoxicity	9e-7
GCST003075_58	Cognitive decline rate in late mild cognitive impairment	1e-6
GCST002932_20	Manganese levels	5e-6
GCST009897_6	Reading disability	7e-6

EFO canonical traits (from GWAS)

4 canonical traits:

EFO ID	Trait name
EFO:0006952	cytotoxicity measurement
EFO:0007710	cognitive decline measurement
EFO:0004458	C-reactive protein measurement
EFO:0004730	hormone measurement

MeSH disease descriptors

5 disease descriptors:

Descriptor	Name	Tree numbers
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D012164	Retinal Diseases	C11.768
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C565778	Leber Congenital Amaurosis 4 *(supp.)*

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067455 (SINGLE PROTEIN)

PharmGKB: 1 entry (CPIC guideline: no)

Binding affinities (BindingDB)

1 measured of 1 human assays (1 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
CHEMBL5558181	IC50	7000 nM

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.70	IC50	2000	nM	CHEMBL5558181

PubChem BioAssay actives

1 with measured affinity, of 3 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
N,N’-bis(3-carbamoyl-4,5-dimethylthiophen-2-yl)pentanediamide	2084028: Inhibition of GST-tagged human AIPL1 expressed in Escherichia coli BL21 (DE3) using NH2-EDASRMEEVD-COOH peptide as substrate preincubated for 15 mins followed by substrate addition measured after 15 mins by Alpha Screen assay	ic50	2.0000	uM

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
cobaltous chloride	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
theaflavin-3,3’-digallate	affects expression	1
Decitabine	affects expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects expression	1
Methapyrilene	decreases methylation	1
Tamoxifen	decreases expression	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	decreases methylation	1
Lactic Acid	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5524501	Binding	Inhibition of GST-tagged human AIPL1 expressed in Escherichia coli BL21 (DE3) using NH2-EDASRMEEVD-COOH peptide as substrate preincubated for 15 mins followed by substrate addition measured after 15 mins by Alpha Screen assay	Structure-based discovery of small molecule inhibitors of FKBP51-Hsp90 protein-protein interaction. — *Eur J Med Chem*

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_UF40	RCPFi007-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

showing 60 of 286 trials:

NCT	Phase	Status	Title
NCT00717080	Phase 4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00999609	Phase 3	ACTIVE_NOT_RECRUITING	Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
NCT06891443	Phase 3	RECRUITING	Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
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
NCT00000114	Phase 3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	Phase 3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	Phase 3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	Phase 3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04636853	Phase 3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	Phase 3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	Phase 3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	Phase 3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	Phase 3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07290530	Phase 3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT07710196	Phase 3	NOT_YET_RECRUITING	A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT01773278	Phase 2	UNKNOWN	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
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]
NCT00100230	Phase 2	COMPLETED	DHA and X-Linked Retinitis Pigmentosa
NCT00447980	Phase 2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993	Phase 2	COMPLETED	A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609	Phase 2	COMPLETED	Trial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515	Phase 2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659	Phase 2	COMPLETED	Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715	Phase 2	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165	Phase 2	COMPLETED	Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711	Phase 2	COMPLETED	Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360	Phase 2	UNKNOWN	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640	Phase 2	UNKNOWN	Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733	Phase 2	COMPLETED	Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04356716	Phase 2	COMPLETED	Sildenafil for Treatment of Choroidal Ischemia
NCT04604899	Phase 2	COMPLETED	Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369	Phase 2	UNKNOWN	Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496	Phase 2	UNKNOWN	Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT05085964	Phase 2	TERMINATED	An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179	Phase 2	COMPLETED	A Study in Subjects With Retinitis Pigmentosa
NCT06627179	Phase 2	ACTIVE_NOT_RECRUITING	Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947	Phase 2	RECRUITING	A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633	Phase 2	ACTIVE_NOT_RECRUITING	Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT07796646	Phase 2	NOT_YET_RECRUITING	Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT00516477	Phase 1	COMPLETED	Safety Study in Subjects With Leber Congenital Amaurosis
NCT00821340	Phase 1	COMPLETED	Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations
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)
NCT00063765	Phase 1	COMPLETED	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
NCT00065455	Phase 1	COMPLETED	Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa
NCT00458575	Phase 1	TERMINATED	A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa
NCT01068561	Phase 1	COMPLETED	Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT01482195	Phase 1	COMPLETED	Trial of Subretinal Injection of (rAAV2-VMD2-hMERTK)
NCT01531348	Phase 1	COMPLETED	Intravitreal Injection of MSCs in Retinitis Pigmentosa
NCT01543906	Phase 1	COMPLETED	Oral QLT091001 in Retinitis Pigmentosa (RP) Subjects With an Autosomal Dominant Mutation in Retinal Pigment Epithelial 65 Protein (RPE65)
NCT01604356	Phase 1	COMPLETED	Acupuncture for the Treatment of Vision Loss Due to Retinitis Pigmentosa
NCT01736059	Phase 1	ACTIVE_NOT_RECRUITING	Clinical Trial of Autologous Intravitreal Bone-marrow CD34+ Stem Cells for Retinopathy
NCT02280135	Phase 1	COMPLETED	Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa
NCT03063021	Phase 1	COMPLETED	The FIGHT-RP1 Study
NCT03772938	Phase 1	UNKNOWN	Stem Cells Therapy in Degenerative Diseases of the Retina
NCT03944239	Phase 1	ACTIVE_NOT_RECRUITING	Safety and Efficacy of Subretinal Transplantation of Clinical Human Embryonic Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Retinitis Pigmentosa

Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for AIPL1 across ~30M SureChEMBL compounds — explore on Sugi Predict.