AIP Gene: Aryl Hydrocarbon Receptor Interacting Protein
Comprehensive genomic and clinical resource for AIP mutations in pituitary adenomas and familial isolated pituitary adenoma (FIPA)
Gene Information Card
| Symbol | AIP |
|---|---|
| Full Name | Aryl Hydrocarbon Receptor Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 9049 ncbi.nlm.nih.gov/gene/9049 |
| Ensembl ID | ENSG00000110711 |
| UniProt ID | O00170 |
| OMIM ID | 605555 |
| HGNC ID | 358 |
| Aliases | AIP1, FKBP16, XAP-2, ARA9 |
Description
The AIP gene encodes the aryl hydrocarbon receptor interacting protein, a co-chaperone that modulates the activity of the aryl hydrocarbon receptor (AHR) and other nuclear receptors. It is involved in protein folding, intracellular trafficking, and regulation of hormone signaling. Germline loss-of-function mutations in AIP are associated with familial isolated pituitary adenoma (FIPA), particularly growth hormone-secreting somatotroph adenomas leading to acromegaly or gigantism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial isolated pituitary adenoma (FIPA) | Loss-of-function mutations in AIP impair AHR signaling and pituitary cell growth regulation, predisposing to adenoma formation. | OMIM #102200; ClinVar |
| Somatotroph adenoma (acromegaly/gigantism) | AIP mutations disrupt tumor suppressor function, leading to uncontrolled GH secretion. | OMIM #102200; NCBI Gene |
| Pituitary adenoma (sporadic) | Somatic AIP alterations are rare but reported in a small subset of sporadic pituitary adenomas. | COSMIC; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pituitary | 12.5 | Medium |
| Brain (cerebellum) | 10.2 | Medium |
| Testis | 8.9 | Low |
| Liver | 7.1 | Low |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 12.1 | Medium expression |
| HepG2 | 9.8 | Medium expression |
| SH-SY5Y | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.70G>A (p.Gly24Arg) | Missense | <1% | Loss of function; associated with FIPA |
| c.241C>T (p.Arg81*) | Nonsense | <1% | Truncation; loss of function; FIPA |
| c.811C>T (p.Arg271Trp) | Missense | <1% | Loss of function; FIPA |
| c.924G>A (p.Trp308*) | Nonsense | <1% | Truncation; loss of function; FIPA |
Mutation functional classification
Loss of Function (LOF)
Most AIP mutations are loss-of-function, leading to reduced protein stability, impaired AHR interaction, and loss of tumor suppressor activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type AIP function, though haploinsufficiency is the primary mechanism.
View complete mutation data：
Gene Ontology (GO)
| • signal transducer activity (GO:0004871) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • ubiquitin protein ligase binding (GO:0031625) |
| • identical protein binding (GO:0042802) | • unfolded protein binding (GO:0051082) |
Pathways
• Aryl hydrocarbon receptor signaling pathway (Reactome: R-HSA-8939211)
• Chaperone-mediated protein folding (Reactome: R-HSA-390466)
Protein Summary
The AIP protein (UniProt O00170) is a 330-amino acid co-chaperone belonging to the FKBP family. It contains three tetratricopeptide repeat (TPR) domains that mediate interactions with HSP90 and the aryl hydrocarbon receptor (AHR). AIP stabilizes AHR in the cytoplasm and regulates its nuclear translocation and transcriptional activity. Loss of AIP function disrupts AHR-mediated growth suppression in pituitary somatotroph cells, leading to adenoma formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AIP Knockout HEK293 Cell Line | EDJ-KQ2262 | Human | 9049 | Details Get a Quote |
| AIPL1 Knockout HEK293 Cell Line | EDJ-KQ8132 | Human | 23746 | Details Get a Quote |
| AIP Knockout A-549 Cell Line | EDJ-KQ22586 | Human | 9049 | Details Get a Quote |
| AIP Knockout HCT 116 Cell Line | EDJ-KQ22587 | Human | 9049 | Details Get a Quote |
| AIP Knockout HeLa Cell Line | EDJ-KQ22588 | Human | 9049 | Details Get a Quote |
| AIPL1 Knockout HeLa Cell Line | EDJ-KQ55801 | Human | 23746 | Details Get a Quote |
| AIPL1 Knockout A-549 Cell Line | EDJ-KQ64297 | Human | 23746 | Details Get a Quote |
| AIPL1 Knockout HCT 116 Cell Line | EDJ-KQ72746 | Human | 23746 | Details Get a Quote |
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