• Gene id: 23746

Gene Summary

• Gene Symbol: AIPL1   Gene   UCSC   Ensembl
• Aliases: AIPL2, LCA4
• Gene name: aryl hydrocarbon receptor interacting protein like 1
• Alternate names: aryl-hydrocarbon-interacting protein-like 1,
• Gene location: 17p13.2 (6435120: 6423737)     Exons: 6     NC_000017.11
• Gene summary(Entrez): 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 ny
• OMIM: 610578

Protein Summary

• Protein general information: Q9NZN9  
  • Name: Aryl hydrocarbon interacting protein like 1
  • Length: 384  
  • Mass: 43903
  • Tissue specificity: Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina. {ECO
• Sequence:

  MDAALLLNVEGVKKTILHGGTGELPNFITGSRVIFHFRTMKCDEERTVIDDSRQVGQPMHIIIGNMFKLEVWEIL
  LTSMRVHEVAEFWCDTIHTGVYPILSRSLRQMAQGKDPTEWHVHTCGLANMFAYHTLGYEDLDELQKEPQPLVFV
  IELLQVDAPSDYQRETWNLSNHEKMKAVPVLHGEGNRLFKLGRYEEASSKYQEAIICLRNLQTKEKPWEVQWLKL
  EKMINTLILNYCQCLLKKEEYYEVLEHTSDILRHHPGIVKAYYVRARAHAEVWNEAEAKADLQKVLELEPSMQKA
  VRRELRLLENRMAEKQEEERLRCRNMLSQGATQPPAEPPTEPPAQSSTEPPAEPPTAPSAELSAGPPAEPATEPP
  PSPGHSLQH

• Structural information:
  • Protein Domains: (53..14-)
    (/note="PPIase-FKBP-type")
  • Interpro: IPR039663  IPR031209  IPR001179  IPR013026  IPR011990   IPR019734  
  • Prosite: PS50293
  • PDB: 5U9A 5U9I 5U9J 5U9K 5V35 6PX0
  • PDBsum: 5U9A 5U9I 5U9J 5U9K 5V35 6PX0
  • STRING: ENSP00000370521
• Other Databases: GeneCards:  AIPL1  Malacards:  AIPL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0051082	unfolded protein binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0018343	protein farnesylation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0001918	farnesylated protein binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001895	retina homeostasis	IEA	biological process
GO:0007603	phototransduction, visible light	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0022400	regulation of rhodopsin mediated signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Leber congenital amaurosis	KEGG:H00837
Leber congenital amaurosis	KEGG:H00837
Retinitis pigmentosa	PMID:19710705
Blindness	PMID:10873396
Leber congenital amaurosis	PMID:10615133
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq