AIPL1 (aryl hydrocarbon receptor interacting protein like 1)

2007-02-01  

Identity

HGNC
AIPL1
LOCATION
17p13.2
LOCUSID
23746
ALIAS
AIPL2,LCA4

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129221ENST00000250087Q9NZN9
ENSG00000129221ENST00000381128J3KPI5
ENSG00000129221ENST00000381129Q9NZN9
ENSG00000129221ENST00000381129F1T0B6
ENSG00000129221ENST00000570466Q9NZN9
ENSG00000129221ENST00000570584K7EPF4
ENSG00000129221ENST00000571740F1T0B5
ENSG00000129221ENST00000574506Q7Z3H1
ENSG00000129221ENST00000574913I3L3R9
ENSG00000129221ENST00000575265F1T0C4
ENSG00000129221ENST00000576307Q9NZN9
ENSG00000129221ENST00000576776Q9NZN9

Expression (GTEx)

0
1
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
cerebral cortex
cerebellum
hippocampus
caudate
retina
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199596402010Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.40
162722592005Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.33
152493682004The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.32
152493682004The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.32
145557652003AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins.30
207028222011Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.30
119298552002The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.27
184081802008The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex.27
200424642010The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.25
123747622002The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.21

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