AIPL1 - aryl hydrocarbon receptor interacting protein like 1 Gene

Homo sapiens

Also known as LCA4; AIPL2

Gene ID: 23746 | Gene type: protein coding

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

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00500	AIPL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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