InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AIPL1

Summary

InnateDB Protein

IDBP-21979.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AIPL1

Protein Name

aryl hydrocarbon receptor interacting protein-like 1

Synonyms

AIPL2; LCA4;

Species

Homo sapiens

Ensembl Protein

ENSP00000370521

InnateDB Gene

IDBG-21975 (AIPL1)

Protein Structure

UniProt Annotation

Function

May be important in protein trafficking and/or protein folding and stabilization.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:12374762}. Nucleus {ECO:0000269PubMed:12374762}.

Disease Associations

Leber congenital amaurosis 4 (LCA4) [MIM:604393]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269PubMed:10615133, ECO:0000269PubMed:17724218}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina. {ECO:0000269PubMed:12374762}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.

Experimentally validated
Total	15 [view]
Protein-Protein	15 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001918	farnesylated protein binding
GO:0005515	protein binding
GO:0051082	unfolded protein binding

Biological Process

GO:0001895	retina homeostasis
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

Cellular Component

GO:0001917	photoreceptor inner segment
GO:0005634	nucleus
GO:0005737	cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR001179 Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain
IPR013026 Tetratricopeptide repeat-containing domain
IPR019734 Tetratricopeptide repeat

PFAM

PF00254
PF13174
PF13176
PF13181

PRINTS

PIRSF

SMART

SM00028

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NZN9