Human Gene AIP (ENST00000279146.8_4) from GENCODE V47lift37
  Description: aryl hydrocarbon receptor interacting protein, transcript variant 1 (from RefSeq NM_003977.4)
Gencode Transcript: ENST00000279146.8_4
Gencode Gene: ENSG00000110711.11_15
Transcript (Including UTRs)
   Position: hg19 chr11:67,250,497-67,258,574 Size: 8,078 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr11:67,250,630-67,258,464 Size: 7,835 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:67,250,497-67,258,574)mRNA (may differ from genome)Protein (330 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AIP_HUMAN
DESCRIPTION: RecName: Full=AH receptor-interacting protein; Short=AIP; AltName: Full=Aryl-hydrocarbon receptor-interacting protein; AltName: Full=HBV X-associated protein 2; Short=XAP-2; AltName: Full=Immunophilin homolog ARA9;
FUNCTION: May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting.
FUNCTION: Cellular negative regulator of the hepatitis B virus (HBV) X protein.
SUBUNIT: Interacts with RET in the pituitary gland; this interaction prevents the formation of the AIP-survivin complex.
INTERACTION: Q92985:IRF7; NbExp=2; IntAct=EBI-704197, EBI-968267; O00408:PDE2A; NbExp=6; IntAct=EBI-704197, EBI-1785967;
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Widely expressed. Higher levels seen in the heart, placenta and skeletal muscle. Not expressed in the liver.
DISEASE: Defects in AIP are a cause of growth hormone-secreting pituitary adenoma (GHSPA) [MIM:102200]; also known as familial isolated somatotropinomas (FIS) or isolated familial somatotropinoma (IFS) or familial somatotrophinoma or acromegaly due to pituitary adenoma.
DISEASE: Defects in AIP are a cause of ACTH-secreting pituitary adenoma (ASPA) [MIM:219090]; also known as pituitary Cushing disease. A pituary adenoma resulting in excessive production of adrenocorticotropic hormone. This leads to hypersecretion of cortisol by the adrenal glands and ACTH-dependent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and trunkal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.
DISEASE: Defects in AIP are a cause of prolactin-secreting pituitary adenoma (PSPA) [MIM:600634]; also known as prolactinoma. Prolactin-secreting pituitary adenoma is the most common type of hormonally active pituitary adenoma.
SIMILARITY: Contains 1 PPIase FKBP-type domain.
SIMILARITY: Contains 2 TPR repeats.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AIP";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AIP
Diseases sorted by gene-association score: pituitary adenoma, prolactin-secreting* (952), pituitary adenoma, growth hormone-secreting* (924), aip-related familial isolated pituitary adenomas* (500), acromegaly* (470), familial isolated pituitary adenoma* (369), pituitary adenoma, acth-secreting* (354), gigantism (37), pituitary adenoma (34), hormone producing pituitary cancer (18), silent pituitary adenoma* (18), null pituitary adenoma* (18), adenoma (15), hepatitis b (14), pituitary apoplexy (11), carney complex variant (10), multiple endocrine neoplasia, type iv (9), endocrine organ benign neoplasm (7), hyperpituitarism (6), organ system benign neoplasm (6), functioning pituitary adenoma (5), cell type benign neoplasm (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 66.95 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1960.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -51.60133-0.388 Picture PostScript Text
3' UTR -27.10110-0.246 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001179 - PPIase_FKBP_dom
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical
IPR019734 - TPR_repeat

Pfam Domains:
PF00254 - FKBP-type peptidyl-prolyl cis-trans isomerase
PF13181 - Tetratricopeptide repeat

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like
54534 - FKBP-like

ModBase Predicted Comparative 3D Structure on O00170
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003712 transcription cofactor activity
GO:0003713 transcription coactivator activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0017162 aryl hydrocarbon receptor binding
GO:0036004 GAF domain binding
GO:0051082 unfolded protein binding

Biological Process:
GO:0006626 protein targeting to mitochondrion
GO:0006805 xenobiotic metabolic process
GO:0010738 regulation of protein kinase A signaling
GO:0022417 protein maturation by protein folding
GO:0035722 interleukin-12-mediated signaling pathway
GO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0034751 aryl hydrocarbon receptor complex
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  U78521 - Homo sapiens immunophilin homolog ARA9 mRNA, complete cds.
BC104797 - Homo sapiens aryl hydrocarbon receptor interacting protein, mRNA (cDNA clone MGC:132457 IMAGE:8143800), complete cds.
BC104827 - Homo sapiens aryl hydrocarbon receptor interacting protein, mRNA (cDNA clone MGC:132487 IMAGE:8143830), complete cds.
JD457925 - Sequence 438949 from Patent EP1572962.
U31913 - Human HBV-X associated (XAP2) mRNA, complete cds.
AB529203 - Synthetic construct DNA, clone: pF1KE1015, Homo sapiens AIP gene for aryl hydrocarbon receptor interacting protein, without stop codon, in Flexi system.
EU446613 - Synthetic construct Homo sapiens clone IMAGE:100070020; IMAGE:100011822; FLH257159.01L aryl hydrocarbon receptor interacting protein (AIP) gene, encodes complete protein.
JD535714 - Sequence 516738 from Patent EP1572962.
JD361387 - Sequence 342411 from Patent EP1572962.
JD156281 - Sequence 137305 from Patent EP1572962.
JD354858 - Sequence 335882 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_acrPathway - Ahr Signal Transduction Pathway

Reactome (by CSHL, EBI, and GO)

Protein O00170 (Reactome details) participates in the following event(s):

R-HSA-8936849 AHR:2xHSP90:AIP:PTGES3 binds TCDD
R-HSA-8937191 AHR:TCDD:2xHSP90AB1:AIP:PTGES3 dissociates
R-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
R-HSA-8937144 Aryl hydrocarbon receptor signalling
R-HSA-9020591 Interleukin-12 signaling
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-447115 Interleukin-12 family signaling
R-HSA-211859 Biological oxidations
R-HSA-449147 Signaling by Interleukins
R-HSA-1430728 Metabolism
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A0SZW3, A0SZW4, A0SZW5, A0SZW6, AIP_HUMAN, ENST00000279146.1, ENST00000279146.2, ENST00000279146.3, ENST00000279146.4, ENST00000279146.5, ENST00000279146.6, ENST00000279146.7, G9I2H4, NM_003977, O00170, Q2M3Q2, Q99606, uc317jrh.1, uc317jrh.2, XAP2
UCSC ID: ENST00000279146.8_4
RefSeq Accession: NM_003977.4
Protein: O00170 (aka AIP_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene AIP:
ipa (AIP Familial Isolated Pituitary Adenomas )

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.