AIPL1 (aryl hydrocarbon receptor interacting protein like 1)

2007-02-01 Affiliation

Identity

HGNC

AIPL1

LOCATION

17p13.2

LOCUSID

23746

ALIAS

AIPL2,LCA4

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 23746
MIM: 604392
HGNC: 359
Ensembl: ENSG00000129221

Variants:

dbSNP: 23746
ClinVar: 23746
TCGA: ENSG00000129221
COSMIC: AIPL1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000129221	ENST00000250087	Q9NZN9
ENSG00000129221	ENST00000381128	J3KPI5
ENSG00000129221	ENST00000381129	Q9NZN9
ENSG00000129221	ENST00000381129	F1T0B6
ENSG00000129221	ENST00000570466	Q9NZN9
ENSG00000129221	ENST00000570584	K7EPF4
ENSG00000129221	ENST00000571740	F1T0B5
ENSG00000129221	ENST00000574506	Q7Z3H1
ENSG00000129221	ENST00000574913	I3L3R9
ENSG00000129221	ENST00000575265	F1T0C4
ENSG00000129221	ENST00000576307	Q9NZN9
ENSG00000129221	ENST00000576776	Q9NZN9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
31342828	2020	A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis.	0
32214115	2020	Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.	25
32976546	2020	Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.	4
33067476	2020	Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.	12
31342828	2020	A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis.	0
32214115	2020	Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1.	25
32976546	2020	Pathogenic variants of AIPL1, MERTK, GUCY2D, and FOXE3 in Pakistani families with clinically heterogeneous eye diseases.	4
33067476	2020	Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration.	12
31488544	2019	Interaction of the tetratricopeptide repeat domain of aryl hydrocarbon receptor-interacting protein-like 1 with the regulatory Pγ subunit of phosphodiesterase 6.	8
31576779	2019	A new novel nonsense mutation in AIPL1 in a LCA4 family.	0
31703130	2019	[Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy].	0
31488544	2019	Interaction of the tetratricopeptide repeat domain of aryl hydrocarbon receptor-interacting protein-like 1 with the regulatory Pγ subunit of phosphodiesterase 6.	8
31576779	2019	A new novel nonsense mutation in AIPL1 in a LCA4 family.	0
31703130	2019	[Identification of AIPL1 gene variants in two Chinese families with Cone-rod dystrophy].	0
29721967	2018	The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors.	6

Citation

Dessen P

AIPL1 (aryl hydrocarbon receptor interacting protein like 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43661/aipl1-(aryl-hydrocarbon-receptor-interacting-protein-like-1)