InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Aipl1

Summary

InnateDB Gene

IDBG-196135.6

Last Modified

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

Gene Symbol

Aipl1

Gene Name

aryl hydrocarbon receptor-interacting protein-like 1

Synonyms

A930007I01Rik

Species

Mus musculus

Ensembl Gene

ENSMUSG00000040554

Encoded Proteins

IDBP-196137

aryl hydrocarbon receptor-interacting protein-like 1

IDBP-196139

aryl hydrocarbon receptor-interacting protein-like 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000129221:
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness, nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs, consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. [provided by RefSeq, Jul 2008]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:72027963-72037509

Strand

Reverse strand

Band

Transcripts

ENSMUST00000048207	ENSMUSP00000036279
ENSMUST00000059082	ENSMUSP00000061957

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.

Predicted by orthology
Total	9 [view]

Gene Ontology

Molecular Function

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

Biological Process

GO:0001895	retina homeostasis
GO:0006457	protein folding
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

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000129221

View Gene Order

ENSBTAG00000008318

Not yet available

Cross-References

SwissProt

Q924K1

TrEMBL

I6L993 Q9CTQ3

UniProt Splice Variant

Entrez Gene

114230

UniGene

Mm.384908 Mm.95707

RefSeq

NM_053245 XM_006532000 XM_006532001

OMIM

CCDS

CCDS24976

HPRD

IMGT

MGI ID

MGI:2148800

MGI Symbol

Aipl1

EMBL

AF296412 AK020825 BC028285 BX321917 CH466596

GenPept

AAH28285 AAK77956 BAB32219 CAI25580 EDL12653 EDL12654 EDL12655

RNA Seq Atlas

114230