Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23746
Gene name Gene Name - the full gene name approved by the HGNC.	AIP like 1 HSP90 co-chaperone
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AIPL1
Synonyms (NCBI Gene) Gene synonyms aliases	AIPL2, LCA4
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 ny

Show/Hide all(24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs16955851	T>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Intron variant, missense variant, coding sequence variant
rs61757484	G>A,C	Benign-likely-benign, likely-benign, pathogenic, benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs62637010	C>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62637011	A>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62637012	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs62637014	C>T	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs62637015	C>A,T	Benign-likely-benign, likely-benign, pathogenic, benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs62637016	CT>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs62637017	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs115681466	C>A,T	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, coding sequence variant, missense variant
rs142208422	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, synonymous variant
rs142326926	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs143092701	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, coding sequence variant, missense variant
rs145304845	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs150427474	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, missense variant, coding sequence variant
rs150656720	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs281865195	CAGGTGGCTCTG>-	Not-provided, pathogenic, conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant, 3 prime UTR variant
rs775364986	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1264794214	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1284009768	C>G,T	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs1468041544	C>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1555547812	->G	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1597331616	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1597340989	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, intron variant

Show/Hide all(187)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052853	hsa-miR-3615	CLASH	23622248
MIRT662528	hsa-miR-4705	HITS-CLIP	23824327
MIRT662527	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT662526	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT662525	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT662524	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT662523	hsa-miR-1281	HITS-CLIP	23824327
MIRT662522	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT616496	hsa-miR-7153-3p	HITS-CLIP	23824327
MIRT616495	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT662528	hsa-miR-4705	HITS-CLIP	23824327
MIRT662527	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT662526	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT662525	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT662524	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT662523	hsa-miR-1281	HITS-CLIP	23824327
MIRT662522	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT616496	hsa-miR-7153-3p	HITS-CLIP	23824327
MIRT616495	hsa-miR-2681-5p	HITS-CLIP	23824327
MIRT774531	hsa-miR-125a-3p	CLIP-seq
MIRT774532	hsa-miR-129-3p	CLIP-seq
MIRT774533	hsa-miR-1299	CLIP-seq
MIRT774534	hsa-miR-1539	CLIP-seq
MIRT774535	hsa-miR-197	CLIP-seq
MIRT774536	hsa-miR-3187-3p	CLIP-seq
MIRT774537	hsa-miR-3193	CLIP-seq
MIRT774538	hsa-miR-3663-5p	CLIP-seq
MIRT774539	hsa-miR-3934	CLIP-seq
MIRT774540	hsa-miR-4435	CLIP-seq
MIRT774541	hsa-miR-4527	CLIP-seq
MIRT774542	hsa-miR-4701-5p	CLIP-seq
MIRT774543	hsa-miR-4716-5p	CLIP-seq
MIRT774544	hsa-miR-4755-3p	CLIP-seq
MIRT774545	hsa-miR-4781-3p	CLIP-seq
MIRT774546	hsa-miR-5096	CLIP-seq
MIRT774547	hsa-miR-520d-5p	CLIP-seq
MIRT774548	hsa-miR-524-5p	CLIP-seq
MIRT774549	hsa-miR-548s	CLIP-seq
MIRT774550	hsa-miR-561	CLIP-seq
MIRT774551	hsa-miR-588	CLIP-seq
MIRT774552	hsa-miR-595	CLIP-seq
MIRT774553	hsa-miR-640	CLIP-seq
MIRT774554	hsa-miR-671-5p	CLIP-seq
MIRT774555	hsa-miR-764	CLIP-seq
MIRT774556	hsa-miR-875-3p	CLIP-seq
MIRT774557	hsa-miR-1254	CLIP-seq
MIRT774558	hsa-miR-1293	CLIP-seq
MIRT774559	hsa-miR-129-5p	CLIP-seq
MIRT774560	hsa-miR-2861	CLIP-seq
MIRT774561	hsa-miR-3116	CLIP-seq
MIRT774562	hsa-miR-3149	CLIP-seq
MIRT774563	hsa-miR-4265	CLIP-seq
MIRT774564	hsa-miR-4296	CLIP-seq
MIRT774565	hsa-miR-4322	CLIP-seq
MIRT774566	hsa-miR-4417	CLIP-seq
MIRT774567	hsa-miR-4483	CLIP-seq
MIRT774568	hsa-miR-4687-3p	CLIP-seq
MIRT774569	hsa-miR-4698	CLIP-seq
MIRT774570	hsa-miR-661	CLIP-seq
MIRT1928609	hsa-miR-106a	CLIP-seq
MIRT1928610	hsa-miR-106b	CLIP-seq
MIRT1928611	hsa-miR-122	CLIP-seq
MIRT1928612	hsa-miR-1234	CLIP-seq
MIRT774531	hsa-miR-125a-3p	CLIP-seq
MIRT774533	hsa-miR-1299	CLIP-seq
MIRT1928613	hsa-miR-130a	CLIP-seq
MIRT1928614	hsa-miR-130b	CLIP-seq
MIRT1928615	hsa-miR-150	CLIP-seq
MIRT1928616	hsa-miR-17	CLIP-seq
MIRT1928617	hsa-miR-20a	CLIP-seq
MIRT1928618	hsa-miR-20b	CLIP-seq
MIRT1928619	hsa-miR-301a	CLIP-seq
MIRT1928620	hsa-miR-301b	CLIP-seq
MIRT1928621	hsa-miR-3135b	CLIP-seq
MIRT774536	hsa-miR-3187-3p	CLIP-seq
MIRT1928622	hsa-miR-3652	CLIP-seq
MIRT774538	hsa-miR-3663-5p	CLIP-seq
MIRT1928623	hsa-miR-3666	CLIP-seq
MIRT774539	hsa-miR-3934	CLIP-seq
MIRT1928624	hsa-miR-4295	CLIP-seq
MIRT1928625	hsa-miR-4430	CLIP-seq
MIRT774540	hsa-miR-4435	CLIP-seq
MIRT774541	hsa-miR-4527	CLIP-seq
MIRT1928626	hsa-miR-454	CLIP-seq
MIRT774542	hsa-miR-4701-5p	CLIP-seq
MIRT774544	hsa-miR-4755-3p	CLIP-seq
MIRT1928627	hsa-miR-4757-3p	CLIP-seq
MIRT1928628	hsa-miR-519d	CLIP-seq
MIRT1928629	hsa-miR-520g	CLIP-seq
MIRT1928630	hsa-miR-520h	CLIP-seq
MIRT774549	hsa-miR-548s	CLIP-seq
MIRT774551	hsa-miR-588	CLIP-seq
MIRT774553	hsa-miR-640	CLIP-seq
MIRT774555	hsa-miR-764	CLIP-seq
MIRT774556	hsa-miR-875-3p	CLIP-seq
MIRT1928631	hsa-miR-93	CLIP-seq
MIRT1928609	hsa-miR-106a	CLIP-seq
MIRT1928610	hsa-miR-106b	CLIP-seq
MIRT1928611	hsa-miR-122	CLIP-seq
MIRT1928612	hsa-miR-1234	CLIP-seq
MIRT774531	hsa-miR-125a-3p	CLIP-seq
MIRT2169369	hsa-miR-1266	CLIP-seq
MIRT774533	hsa-miR-1299	CLIP-seq
MIRT1928613	hsa-miR-130a	CLIP-seq
MIRT1928614	hsa-miR-130b	CLIP-seq
MIRT2169370	hsa-miR-143	CLIP-seq
MIRT1928615	hsa-miR-150	CLIP-seq
MIRT1928616	hsa-miR-17	CLIP-seq
MIRT2169371	hsa-miR-1915	CLIP-seq
MIRT774535	hsa-miR-197	CLIP-seq
MIRT1928617	hsa-miR-20a	CLIP-seq
MIRT1928618	hsa-miR-20b	CLIP-seq
MIRT2169372	hsa-miR-24	CLIP-seq
MIRT1928619	hsa-miR-301a	CLIP-seq
MIRT1928620	hsa-miR-301b	CLIP-seq
MIRT2169373	hsa-miR-302a	CLIP-seq
MIRT2169374	hsa-miR-302b	CLIP-seq
MIRT2169375	hsa-miR-302c	CLIP-seq
MIRT2169376	hsa-miR-302d	CLIP-seq
MIRT2169377	hsa-miR-302e	CLIP-seq
MIRT1928621	hsa-miR-3135b	CLIP-seq
MIRT774536	hsa-miR-3187-3p	CLIP-seq
MIRT1928622	hsa-miR-3652	CLIP-seq
MIRT774538	hsa-miR-3663-5p	CLIP-seq
MIRT1928623	hsa-miR-3666	CLIP-seq
MIRT2169378	hsa-miR-372	CLIP-seq
MIRT2169379	hsa-miR-373	CLIP-seq
MIRT774539	hsa-miR-3934	CLIP-seq
MIRT2169380	hsa-miR-4284	CLIP-seq
MIRT1928624	hsa-miR-4295	CLIP-seq
MIRT1928625	hsa-miR-4430	CLIP-seq
MIRT774540	hsa-miR-4435	CLIP-seq
MIRT2169381	hsa-miR-4518	CLIP-seq
MIRT774541	hsa-miR-4527	CLIP-seq
MIRT1928626	hsa-miR-454	CLIP-seq
MIRT774542	hsa-miR-4701-5p	CLIP-seq
MIRT774543	hsa-miR-4716-5p	CLIP-seq
MIRT774544	hsa-miR-4755-3p	CLIP-seq
MIRT1928627	hsa-miR-4757-3p	CLIP-seq
MIRT2169382	hsa-miR-4770	CLIP-seq
MIRT2169383	hsa-miR-4772-3p	CLIP-seq
MIRT774545	hsa-miR-4781-3p	CLIP-seq
MIRT774546	hsa-miR-5096	CLIP-seq
MIRT1928628	hsa-miR-519d	CLIP-seq
MIRT2169384	hsa-miR-520a-3p	CLIP-seq
MIRT2169385	hsa-miR-520b	CLIP-seq
MIRT2169386	hsa-miR-520c-3p	CLIP-seq
MIRT2169387	hsa-miR-520d-3p	CLIP-seq
MIRT2169388	hsa-miR-520e	CLIP-seq
MIRT1928629	hsa-miR-520g	CLIP-seq
MIRT1928630	hsa-miR-520h	CLIP-seq
MIRT774549	hsa-miR-548s	CLIP-seq
MIRT774551	hsa-miR-588	CLIP-seq
MIRT774553	hsa-miR-640	CLIP-seq
MIRT774555	hsa-miR-764	CLIP-seq
MIRT774556	hsa-miR-875-3p	CLIP-seq
MIRT1928631	hsa-miR-93	CLIP-seq
MIRT774559	hsa-miR-129-5p	CLIP-seq
MIRT774562	hsa-miR-3149	CLIP-seq
MIRT1928609	hsa-miR-106a	CLIP-seq
MIRT1928610	hsa-miR-106b	CLIP-seq
MIRT1928612	hsa-miR-1234	CLIP-seq
MIRT774559	hsa-miR-129-5p	CLIP-seq
MIRT1928615	hsa-miR-150	CLIP-seq
MIRT1928616	hsa-miR-17	CLIP-seq
MIRT2169371	hsa-miR-1915	CLIP-seq
MIRT1928617	hsa-miR-20a	CLIP-seq
MIRT1928618	hsa-miR-20b	CLIP-seq
MIRT2169373	hsa-miR-302a	CLIP-seq
MIRT2169374	hsa-miR-302b	CLIP-seq
MIRT2169375	hsa-miR-302c	CLIP-seq
MIRT2169376	hsa-miR-302d	CLIP-seq
MIRT2169377	hsa-miR-302e	CLIP-seq
MIRT2674793	hsa-miR-3186-5p	CLIP-seq
MIRT2169378	hsa-miR-372	CLIP-seq
MIRT2169379	hsa-miR-373	CLIP-seq
MIRT2674794	hsa-miR-4731-5p	CLIP-seq
MIRT2674795	hsa-miR-512-3p	CLIP-seq
MIRT1928628	hsa-miR-519d	CLIP-seq
MIRT2169384	hsa-miR-520a-3p	CLIP-seq
MIRT2169385	hsa-miR-520b	CLIP-seq
MIRT2169386	hsa-miR-520c-3p	CLIP-seq
MIRT2169387	hsa-miR-520d-3p	CLIP-seq
MIRT2169388	hsa-miR-520e	CLIP-seq
MIRT1928629	hsa-miR-520g	CLIP-seq
MIRT1928630	hsa-miR-520h	CLIP-seq
MIRT1928631	hsa-miR-93	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001895	Process	Retina homeostasis	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001918	Function	Farnesylated protein binding	IDA	14555765
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IEA
GO:0005515	Function	Protein binding	IPI	12374762, 21044950, 32296183
GO:0005634	Component	Nucleus	IDA	12374762
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10615133
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	12374762
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006915	Process	Apoptotic process	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10615133
GO:0007603	Process	Phototransduction, visible light	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0018343	Process	Protein farnesylation	IDA	14555765
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0051082	Function	Unfolded protein binding	IEA
GO:0051082	Function	Unfolded protein binding	TAS	10615133

MIM	HGNC	e!Ensembl
604392	359	ENSG00000129221

Protein

UniProt ID

Q9NZN9

Protein name

Aryl-hydrocarbon-interacting protein-like 1

Protein function

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

PDB

5U9A , 5U9I , 5U9J , 5U9K , 5V35 , 6PX0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00254	FKBP_C	26 → 154	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina. {ECO:0000269|PubMed:12374762}.

Sequence

MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDEERTVIDDSRQVGQPMH
IIIGNMFKLEVWEILLTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQGKDPTEWHVHT
CGLANMFAYHTLGYEDLDELQKEPQPLVFVIELLQVDAPSDYQRETWNLSNHEKMKAVPV
LHGEGNRLFKLGRYEEASSKYQEAIICLRNLQTKEKPWEVQWLKLEKMINTLILNYCQCL
LKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNEAEAKADLQKVLELEPSMQKA
VRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEPPAEPPTAPSA
ELSAGPPAEPATEPPPSPGHSLQH

Sequence length

384

Interactions

View interactions

	KEGG
	Cushing syndrome Chemical carcinogenesis - receptor activation

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Leber Congenital Amaurosis	leber congenital amaurosis, leber congenital amaurosis 4	rs752193525, rs62637014, rs758001091, rs374255033, rs62637016, rs201883601, rs62637010, rs142326926, rs1597331616, rs140808549, rs1468041544, rs62637009, rs1264794214, rs775364986, rs1208703297, rs139305531 View all (1 more)	N/A
retinal dystrophy	Retinal dystrophy	rs62637014, rs758001091	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs1597331616, rs1597340989	N/A
Cone-rod dystrophy	cone-rod dystrophy 2	rs1597331616	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Postmenopausal breast cancer	N/A	N/A	GWAS
Lissencephaly	lissencephaly due to tuba1a mutation	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Amaurosis congenita of Leber type 1	Associate	21900377
Anophthalmos	Associate	40141357
Anterior segment mesenchymal dysgenesis	Associate	32976546
Blindness	Associate	14611946, 28739921
Cataract	Associate	40141357
Cognitive Dysfunction	Associate	39986747
Color Vision Defects	Associate	22347407
Cone Rod Dystrophies	Associate	24426771
Diabetic Retinopathy	Associate	37318461
Drug Related Side Effects and Adverse Reactions	Associate	26015512
Eye Diseases	Associate	32976546
Keratoconus	Associate	10711674
Leber Congenital Amaurosis	Associate	10615133, 10711674, 12881340, 14611946, 15024725, 15347646, 16052170, 16505055, 18055820, 18936139, 19753312, 19959640, 21602930, 21900377, 22347407 View all (10 more)
Leber Congenital Amaurosis 4	Associate	36982987
Leber congenital amaurosis type 4	Associate	32214115, 36982987
Macular Degeneration	Associate	22412862
Refsum Disease Infantile	Associate	40141357
Retinal Degeneration	Associate	24426771
Retinal Dystrophies	Associate	32214115, 39986747
Retinitis	Associate	22412862
Retinitis Pigmentosa	Associate	12881340, 16272259, 16505055, 32976546
Vision Disorders	Associate	32214115, 36982987

AIPL1 (AIP like 1 HSP90 co-chaperone)