Bos taurus Gene: AIPL1 | |||||||||||
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Summary | |||||||||||
InnateDB Gene | IDBG-633925.3 | ||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
Gene Symbol | AIPL1 | ||||||||||
Gene Name | aryl-hydrocarbon-interacting protein-like 1 | ||||||||||
Synonyms | |||||||||||
Species | Bos taurus | ||||||||||
Ensembl Gene | ENSBTAG00000008318 | ||||||||||
Encoded Proteins |
aryl-hydrocarbon-interacting protein-like 1
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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] |
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Gene Information | |||||||||||
Type | Protein coding | ||||||||||
Genomic Location | Chromosome 19:26031610-26042006 | ||||||||||
Strand | Forward strand | ||||||||||
Band | |||||||||||
Transcripts |
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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 6 interaction(s) predicted by orthology.
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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 | |||||||||||
Species
Homo sapiens
Mus musculus
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Gene ID
Gene Order
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Cross-References | |||||||||||
SwissProt | |||||||||||
TrEMBL | |||||||||||
UniProt Splice Variant | |||||||||||
Entrez Gene | |||||||||||
UniGene | Bt.8861 | ||||||||||
RefSeq | NM_174234 | ||||||||||
HUGO | |||||||||||
OMIM | |||||||||||
CCDS | |||||||||||
HPRD | |||||||||||
IMGT | |||||||||||
EMBL | |||||||||||
GenPept | |||||||||||
RNA Seq Atlas | |||||||||||