• Gene id: 9049

Gene Summary

• Gene Symbol: AIP   Gene   UCSC   Ensembl
• Aliases: ARA9, FKBP16, FKBP37, PITA1, SMTPHN, XAP-2, XAP2
• Gene name: aryl hydrocarbon receptor interacting protein
• Alternate names: AH receptor-interacting protein, HBV X-associated protein 2, aryl hydrocarbon receptor-associated protein 9, hepatitis B virus X-associated cellular protein 2, immunophilin homolog ARA9,
• Gene location: 11q13.2 (67468178: 67491107)     Exons: 8     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. Th
• OMIM: 605555

Protein Summary

• Protein general information: O00170  
  • Name: AH receptor interacting protein (AIP) (Aryl hydrocarbon receptor interacting protein) (HBV X associated protein 2) (XAP 2) (Immunophilin homolog ARA9)
  • Length: 330  
  • Mass: 37636
  • Tissue specificity: Widely expressed. Higher levels seen in the heart, placenta and skeletal muscle. Not expressed in the liver.
• Sequence:

  MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPMELIIGKKFKLPVWET
  IVCTMREGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRHCCGVAQMREHSSLGHADLDALQQNPQPLIF
  HMEMLKVESPGTYQQDPWAMTDEEKAKAVPLIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQ
  LDQQITPLLLNYCQCKLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAP
  VVSRELQALEARIRQKDEEDKARFRGIFSH

• Structural information:
  • Protein Domains: (31..12-)
    (/note="PPIase-FKBP-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00277"-)
  • Interpro: IPR031208  IPR039663  IPR001179  IPR013026  IPR011990   IPR019734  
  • Prosite: PS50059 PS50005 PS50293
  • PDB: 2LKN 4AIF 4APO
  • PDBsum: 2LKN 4AIF 4APO
  • DIP: 34068
  • STRING: ENSP00000279146
• Other Databases: GeneCards:  AIP  Malacards:  AIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006626	protein targeting to mitochondrion	IDA	biological process
GO:0051082	unfolded protein binding	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0022417	protein maturation by protein folding	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0008134	transcription factor binding	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0006805	xenobiotic metabolic process	IEA	biological process
GO:0034751	aryl hydrocarbon receptor complex	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0003712	transcription coregulator activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0017162	aryl hydrocarbon receptor binding	IEA	molecular function
GO:0010738	regulation of protein kinase A signaling	IEA	biological process
GO:0051344	negative regulation of cyclic-nucleotide phosphodiesterase activity	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:1903506	regulation of nucleic acid-templated transcription	IEA	biological process
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0036004	GAF domain binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Cushing syndrome	KEGG:H01431
Pituitary adenomas	KEGG:H01102
Acromegaly	KEGG:H01483
Excessive secretion of growth hormone	KEGG:H01864
Cushing syndrome	KEGG:H01431
Pituitary adenomas	KEGG:H01102
Acromegaly	KEGG:H01483
Excessive secretion of growth hormone	KEGG:H01864
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray