Tissue expression of AIPL1 - Summary - The Human Protein Atlas

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AIPL1

TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	AIPL1
Gene description	Aryl hydrocarbon receptor interacting protein-like 1
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	11
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Not detected
GTEx:	Not detected
FANTOM5:	Tissue enriched (retina)

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic and nuclear expression in photoreceptor cells.

DATA RELIABILITY
Data reliability description	External characterization data supports antibody staining but no internal RNA data available for correlation.
Reliability score	Supported based on 1 antibody. HPA026578
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Eye

N/A

Retina

N/A

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Not detected
GTEx dataset Organ Expression Alphabetical RNA tissue category: Not detected
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (retina)

GENE INFORMATION
Gene name	AIPL1 (HGNC Symbol)
Synonyms	LCA4
Description	Aryl hydrocarbon receptor interacting protein-like 1 (HGNC Symbol)
Entrez gene 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]
Chromosome	17
Cytoband	p13.2
Chromosome location (bp)	6393693 - 6435199
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000129221 (version 83.38)
Entrez gene	23746
UniProt	Q9NZN9 (UniProt - Evidence at protein level)
neXtProt	NX_Q9NZN9
Antibodypedia	AIPL1 antibodies

PROTEIN BROWSER

AIPL1-001	AIPL1-002	AIPL1-003	AIPL1-004	AIPL1-005	AIPL1-006	AIPL1-008	AIPL1-009	AIPL1-010	AIPL1-011	AIPL1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
AIPL1-001 ENSP00000370521 ENST00000381129	Q9NZN9 [Direct mapping] Aryl-hydrocarbon-interacting protein-like 1 F1T0B6 [Target identity:100%; Query identity:100%] Aryl-hydrocarbon-interacting protein-like 1 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0001895 [retina homeostasis] GO:0001917 [photoreceptor inner segment] GO:0001918 [farnesylated protein binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006457 [protein folding] GO:0007601 [visual perception] GO:0007603 [phototransduction, visible light] GO:0018343 [protein farnesylation] GO:0030823 [regulation of cGMP metabolic process] GO:0043066 [negative regulation of apoptotic process] GO:0051082 [unfolded protein binding] Show all	384 aa 43.9 kDa	No	0
AIPL1-002 ENSP00000250087 ENST00000250087	Q9NZN9 [Direct mapping] Aryl-hydrocarbon-interacting protein-like 1 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0001918 [farnesylated protein binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006457 [protein folding] GO:0007601 [visual perception] GO:0018343 [protein farnesylation] GO:0051082 [unfolded protein binding] Show all	321 aa 36.7 kDa	No	0
AIPL1-003 ENSP00000459522 ENST00000576307	Q9NZN9 [Direct mapping] Aryl-hydrocarbon-interacting protein-like 1 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0001918 [farnesylated protein binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006457 [protein folding] GO:0007601 [visual perception] GO:0018343 [protein farnesylation] GO:0051082 [unfolded protein binding] Show all	324 aa 36.7 kDa	No	0
AIPL1-004 ENSP00000461287 ENST00000570466	Q9NZN9 [Direct mapping] Aryl-hydrocarbon-interacting protein-like 1 Show all	Predicted intracellular proteins Disease related genes Show all	GO:0001918 [farnesylated protein binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006457 [protein folding] GO:0007601 [visual perception] GO:0018343 [protein farnesylation] GO:0051082 [unfolded protein binding] Show all	362 aa 41.2 kDa	No	0
AIPL1-005 ENSP00000460827 ENST00000576776	Q9NZN9 [Direct mapping] Aryl-hydrocarbon-interacting protein-like 1 Show all	Predicted intracellular proteins Disease related genes Show all	GO:0001918 [farnesylated protein binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006457 [protein folding] GO:0007601 [visual perception] GO:0018343 [protein farnesylation] GO:0051082 [unfolded protein binding] Show all	360 aa 40.9 kDa	No	0
AIPL1-006 ENSP00000458456 ENST00000574506	Q7Z3H1 [Direct mapping] Aryl hydrocarbon receptor interacting protein-like 1, isoform CRA_b; Aryl-hydrocarbon-interacting protein-like 1; Putative uncharacterized protein DKFZp686O2183 Show all	Predicted intracellular proteins Show all	GO:0005515 [protein binding] GO:0007601 [visual perception] Show all	372 aa 42.4 kDa	No	0
AIPL1-008 ENSP00000459673 ENST00000575265	F1T0C4 [Direct mapping] Aryl hydrocarbon receptor interacting protein-like 1, isoform CRA_e; Aryl-hydrocarbon-interacting protein-like 1 Show all	Predicted intracellular proteins Show all	GO:0006457 [protein folding] GO:0007601 [visual perception] Show all	270 aa 31.3 kDa	No	0
AIPL1-009 ENSP00000460134 ENST00000571740	F1T0B5 [Direct mapping] Aryl-hydrocarbon-interacting protein-like 1 Show all	Predicted intracellular proteins Show all	GO:0006457 [protein folding] GO:0007601 [visual perception] Show all	262 aa 30.4 kDa	No	0
AIPL1-010 ENSP00000460672 ENST00000574913	I3L3R9 [Direct mapping] Aryl-hydrocarbon-interacting protein-like 1 Show all	Predicted intracellular proteins Show all	GO:0006457 [protein folding] GO:0007601 [visual perception] Show all	217 aa 25 kDa	No	0
AIPL1-011 ENSP00000467360 ENST00000570584	K7EPF4 [Direct mapping] Aryl-hydrocarbon-interacting protein-like 1 Show all	Predicted intracellular proteins Show all	GO:0006457 [protein folding] GO:0007601 [visual perception] Show all	137 aa 15.3 kDa	No	0
AIPL1-201 ENSP00000481337 ENST00000621374	A0A087WXV8 [Direct mapping] Aryl-hydrocarbon-interacting protein-like 1 Show all	Predicted intracellular proteins Show all	GO:0005515 [protein binding] GO:0006457 [protein folding] GO:0007601 [visual perception] Show all	326 aa 37.9 kDa	No	0

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The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.