AIPL1 - aryl hydrocarbon receptor interacting protein like 1 Gene

Also Known as LCA4; AIPL2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23746

About AIPL1

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:6,423,738-6,435,121 (from NCBI)

This gene has 11 transcripts (splice variants), 176 orthologues, 1 paralogue and is associated with 5 phenotypes. Low expression observed in reference dataset.

Summary

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. [provided by RefSeq, Jan 2014]

AIPL1 Products (8)

mRNA	Protein	Name
NM_001033054.3	NP_001028226.1	aryl-hydrocarbon-interacting protein-like 1 isoform 2
NM_001033055.3	NP_001028227.1	aryl-hydrocarbon-interacting protein-like 1 isoform 3
NM_001285399.3	NP_001272328.1	aryl-hydrocarbon-interacting protein-like 1 isoform 4
NM_001285400.3	NP_001272329.1	aryl-hydrocarbon-interacting protein-like 1 isoform 5
NM_001285401.3	NP_001272330.1	aryl-hydrocarbon-interacting protein-like 1 isoform 6
NM_001285402.2	NP_001272331.1	aryl-hydrocarbon-interacting protein-like 1 isoform 7
NM_001285403.4	NP_001272332.1	aryl-hydrocarbon-interacting protein-like 1 isoform 8
NM_014336.5	NP_055151.3	aryl-hydrocarbon-interacting protein-like 1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables farnesylated protein binding	IDA IDA: Inferred from direct assay	14555765	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12374762	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within protein farnesylation	IDA IDA: Inferred from direct assay	14555765	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	12374762	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12374762	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AIPL1 Protein Structure

FKBP_C

TPR_2

0
100
200
300
384 a.a.

Protein Preferred Names	Protein Names
aryl-hydrocarbon-interacting protein-like 1

AIPL1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AIPL1	Q9NZN9	SMAP1	Homo sapiens	Q8IYB5-2	Y2H Array	32296183
Intra	AIPL1	Q9NZN9	SMAP1	Homo sapiens	Q8IYB5-2	Y2H Prey Pooling	32296183
Intra	AIPL1	Q9NZN9	LBX1	Homo sapiens	P52954	Y2H Prey Pooling	32296183
Intra	AIPL1	Q9NZN9	LBX1	Homo sapiens	P52954	Y2H Array	32296183
Intra	AIPL1	Q9NZN9	NUB1	Homo sapiens	Q9Y5A7	Anti Bait CoIP	12374762
Intra	AIPL1	Q9NZN9	TINF2	Homo sapiens	Q9BSI4	Pull Down	21044950
Intra	AIPL1	Q9NZN9	TINF2	Homo sapiens	Q9BSI4	BiFC	21044950
Intra	AIPL1	Q9NZN9	PLSCR3	Homo sapiens	Q9NRY6	Y2H Prey Pooling	32296183
Intra	AIPL1	Q9NZN9	PLSCR3	Homo sapiens	Q9NRY6	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Retinal Degeneration	Degeneration Of Retina
Retinal Vascular Disease	Retinal Vascular Retinal Vascular Disorder Retina Circulation Disorder
Leber Congenital Amaurosis 9	LCA9 Leber Congenital Amaurosis, Type 9
Leber Congenital Amaurosis 7	LCA7 Leber Congenital Amaurosis, Type 7
Leber Congenital Amaurosis 6	LCA6 Leber Congenital Amaurosis, Type 6
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Leber Congenital Amaurosis 8	LCA8 Leber Congenital Amaurosis, Type 8
Leber Congenital Amaurosis 16	LCA16 Leber Congenital Amaurosis, Type 16
Leber Congenital Amaurosis 2	LCA2 Amaurosis Congenita Of Leber Ii Amaurosis Congenita Of Leber, Type 2 Leber Congenital Amaurosis Type Ii Leber Congenital Amaurosis, Type 2 Leber Congenital Amaurosis, Type Ii
Leber Congenital Amaurosis 11	LCA11 Leber Congenital Amaurosis, Type 11
Pseudopapilledema
Retinitis Pigmentosa 38	RP38 Rod-Cone Dystrophy, Childhood-Onset Retinitis Pigmentosa, Type 38
Leber Congenital Amaurosis 15	LCA15 Leber Congenital Amaurosis, Type 15
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Cone-Rod Dystrophy 17	CORD17
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Leber Congenital Amaurosis 13	LCA13 Retinitis Pigmentosa 53 RP53 Leber Congenital Amaurosis, Type 13
Leber Congenital Amaurosis 14	LCA14 Retinitis Pigmentosa, Juvenile, Lrat-Related Retinal Dystrophy, Early-Onset Severe Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa Juvenile Lrat-Related Severe Early-Onset Retinal Dystrophy Lrat-Related Retinal Dystrophy, Early-Onset Severe, Lrat-Related Leber Congenital Amaurosis, Type 14
Gapo Syndrome	GAPOS Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy
Leber Congenital Amaurosis 12	LCA12 Leber Congenital Amaurosis, Type 12
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Enhanced S-Cone Syndrome	Goldmann-Favre Syndrome ESCS Favre Hyaloideoretinal Degeneration Retinoschisis With Early Hemeralopia Retinoschisis With Early Nyctalopia Enhanced S Cone Syndrome S-Cone Syndrome, Enhanced
Retinitis Pigmentosa 12	RP12 Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium Rp With Or Without Pprpe Retinitis Pigmentosa-12
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Pigmented Paravenous Chorioretinal Atrophy	Pigmented Paravenous Retinochoroidal Atrophy PPCRA Pprca Atrophy, Chorioretinal, Pigmented Paravenous
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Joubert Syndrome 7	JBTS7 Cerebello-Oculo-Renal Syndrome 3 Cors3 Joubert Syndrome, Type 7
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Eye Degenerative Disease
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Choroidal Dystrophy, Central Areolar, 1	Choroidal Sclerosis Choroidal Dystrophy Choroidal Dystrophy, Central Areolar Cacd Central Areolar Choroidal Dystrophy CACD1 Choroidal Dystrophy, Central Areolar 1 Choroidal Dystrophy Central Areolar Central Areolar Choroidal Sclerosis Choroidal Degenerations Areolar Atrophy Of The Macula Partial Central Choroid Dystrophy Degenerative Choroidopathy Chorioretinal Degeneration Hereditary Chorioretinal Degeneration Hereditary Degeneration Of Choroid Hereditary Choroidal Dystrophies Generalised Choroidal Dystrophy Hereditary Choroidopathy
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Physical Disorder	Physical Illness
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00500	AIPL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22382	Aipl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28906	Aipl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	AIPL1	RGD	RGD:70906
Macaca mulatta	AIPL1	VGNC	VGNC:99113
Felis catus	AIPL1	VGNC	VGNC:98757
Canis familiaris	AIPL1	VGNC	VGNC:37742
Bos taurus	AIPL1	VGNC	VGNC:50178
Mus musculus	AIPL1	MGD	MGI:2148800
Others	AIPL1	NCBI