Version 5.4
| Homo sapiens Gene: AIPL1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-21975.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | AIPL1 | ||||||||||||||||||
| Gene Name | aryl hydrocarbon receptor interacting protein-like 1 | ||||||||||||||||||
| Synonyms | AIPL2; LCA4 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000129221 | ||||||||||||||||||
| Encoded Proteins |
aryl hydrocarbon receptor interacting protein-like 1
aryl hydrocarbon receptor interacting protein-like 1
aryl hydrocarbon receptor interacting protein-like 1
aryl hydrocarbon receptor interacting protein-like 1
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 17:6393693-6435199 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | p13.2 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | |||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| UniGene | |||||||||||||||||||
| RefSeq | NM_001033054 NM_001033055 NM_001285399 NM_001285400 NM_001285401 NM_001285402 NM_001285403 NM_014336 | ||||||||||||||||||
| HUGO | |||||||||||||||||||
| OMIM | |||||||||||||||||||
| CCDS | CCDS11075 CCDS32539 CCDS32540 CCDS67130 CCDS67131 CCDS67132 CCDS67133 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | |||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||