AIPL1
Sign in to saveAlso known as AIPL2, LCA4, aryl hydrocarbon receptor interacting protein like 1
Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene. The protein is a member of FKBP prolyl isomerase family.
In the Vinony graph
Within Vinony's link graph, AIPL1 is referenced by 5 other articles, and connects out to PubMed, human chromosome 17 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 17.
Its subject is documented across 6 Wikipedia language editions.
Gene data
AIPL1- Name
- AIP like 1 HSP90 co-chaperone
- Type
- protein-coding
- Position
- 6,393,693–6,435,199 (−)
- Aliases
- AIPL2, LCA4
- Ensembl
- ENSG00000129221
- RefSeq RNA
- NM_001033054.3, NM_001033055.3, NM_001285399.3, NM_001285400.3, NM_001285401.3
- RefSeq protein
- NP_001028226.1, NP_001028227.1, NP_001272328.1, NP_001272329.1, NP_001272330.1
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 Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
AIP like 1 HSP90 co-chaperone
- Symbol
- AIPL1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:6,393,693-6,435,199
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 22806
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/23746
- genomic end
- 6338519
- genomic start
- 6297013
- chromosome
- human chromosome 17
- cytogenetic location
- 17p13.2
- expressed in
- pituitary gland
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
6 sectionsContents
- Function
- Interactions
- See also
- References
- Further reading
- External links
Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene. The protein is a member of FKBP prolyl isomerase family.
== Function ==
Excerpted from Wikipedia’s “AIPL1” article, available under the CC BY-SA 4.0 licence.