AIPL1

Protein identityUniProt · HPA

UniProt accession

Q9NZN9

Gene

AIPL1

Ensembl

ENSG00000129221

Chromosome

17

Canonical length

384 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nuclear speckles,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

384 residues, UniProt reviewed canonical sequence.

>Q9NZN9|AIPL1
     1  MDAALLLNVE GVKKTILHGG TGELPNFITG SRVIFHFRTM KCDEERTVID DSRQVGQPMH
    61  IIIGNMFKLE VWEILLTSMR VHEVAEFWCD TIHTGVYPIL SRSLRQMAQG KDPTEWHVHT
   121  CGLANMFAYH TLGYEDLDEL QKEPQPLVFV IELLQVDAPS DYQRETWNLS NHEKMKAVPV
   181  LHGEGNRLFK LGRYEEASSK YQEAIICLRN LQTKEKPWEV QWLKLEKMIN TLILNYCQCL
   241  LKKEEYYEVL EHTSDILRHH PGIVKAYYVR ARAHAEVWNE AEAKADLQKV LELEPSMQKA
   301  VRRELRLLEN RMAEKQEEER LRCRNMLSQG ATQPPAEPPT EPPAQSSTEP PAEPPTAPSA
   361  ELSAGPPAEP ATEPPPSPGH SLQH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AIPL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.37

Highest tissue expression

775 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AIPL1.

Disease | AllUniProt

Conditions AIPL1 is implicated in, by any mechanism.

• Leber congenital amaurosis 4 (LCA4) MIM:604393

Disease | GeneticClinVar

80 pathogenic / likely-pathogenic of 608 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Leber congenital amaurosis 4
• AIPL1-related retinopathy
• Leber congenital amaurosis
• Retinal dystrophy
• Retinitis pigmentosa

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.07

gnomAD pLI

0

gnomAD missense Z

0.08

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apoptotic process
• negative regulation of apoptotic process
• phototransduction, visible light
• protein farnesylation
• regulation of opsin-mediated signaling pathway
• retina homeostasis
• visual perception

Molecular functions

• peptidyl-prolyl cis-trans isomerase activity
• unfolded protein binding
• farnesylated protein binding

Cellular components

• cytoplasm
• cytosol
• nuclear speck
• nucleoplasm
• nucleus
• photoreceptor inner segment

Protein domainsUniProt · Pfam · InterPro

• Tetratricopeptide-like helical domain superfamily
• Tetratricopeptide repeat
• AIP/AIPL1/TTC9
• Peptidyl-prolyl cis-trans isomerase domain superfamily
• AIP/AIPL, N-terminal FKBP-type PPIase domain
• AH receptor-interacting protein, N-terminal FKBP-type PPIase

KeywordsUniProt

• Cytoplasm
• Leber congenital amaurosis
• Nucleus
• Repeat
• Sensory transduction
• TPR repeat
• Vision

InteractionsUniProt · HPA

Protein binding partners of AIPL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• NUB1
• BLM
• PDE5A