AIP aryl hydrocarbon receptor interacting protein [Homo sapiens] - Gene

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Summary

Official Symbol: AIPprovided by HGNC
Official Full Name: aryl hydrocarbon receptor interacting proteinprovided by HGNC
Primary source: HGNC:358
See related: Ensembl:ENSG00000110711; HPRD:10408; MIM:605555; Vega:OTTHUMG00000167674
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARA9; XAP2; XAP-2; FKBP16; FKBP37; SMTPHN
Summary: 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. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. [provided by RefSeq, Sep 2008]

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Genomic context

Location :: 11q13.3

Sequence :: Chromosome: 11; NC_000011.9 (67250505..67258579)

See AIP in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

eight exonic SNPs were identified at the AIP locus, including three novel SNPs: T48T, L212L, and V302V
Title: An evaluation of single nucleotide polymorphisms in the human aryl hydrocarbon receptor-interacting protein (AIP) gene.
XAP2 exerts a negative effect on ERalpha transcriptional activity and may thus prevent ERalpha-dependent events.
Title: The immunophilin-like protein XAP2 is a negative regulator of estrogen signaling through interaction with estrogen receptor α.
pituitary adenomas were diagnosed in 2/21 AIPmut-screened carriers; both had asymptomatic microadenomas
Title: High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.
Loss of heterozygoty at the AIP locus might be a late event in a potential progression from hyperplastic to adenomatous tissue.
Title: Hyperplasia-adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation.
mutated in 41 pediatric somatotropinoma cases (review)
Title: Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature review.
Data show that the frequency of non-functioning adrenal lesions in acromegaly is not associated with aryl hydrocarbon receptor interacting protein gene mutations.
Title: Adrenal lesions in acromegaly: do metabolic aspects and aryl hydrocarbon receptor interacting protein gene have a role? Evaluation at baseline and after long-term follow-up.
Familial isolated pituitary neoplasms is a heterogeneous condition, which may be associated with AIP mutation.
Title: Familial isolated pituitary adenomas experience at a single center: clinical importance of AIP mutation screening.
data provide strong evidence for a new founder effect of the AIPR304X mutation in central Italy and the observed variations in disease severity point out the role of additional genetic or environmental factors in such kindreds.
Title: The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: Mutational hot-spot or founder effect?
loss of MEN1 and AIP is likely to be pathogenetically essential for hibernoma development.
Title: Concomitant deletions of tumor suppressor genes MEN1 and AIP are essential for the pathogenesis of the brown fat tumor hibernoma.
Four contemporary Northern Irish families who presented with gigantism, acromegaly, or prolactinoma have the same mutation and haplotype associated with the mutated gene as a patient from the 18th century.
Title: AIP mutation in pituitary adenomas in the 18th century and today.

Submit: New GeneRIF Correction See all (42)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
NP_003968.1	NP_647606.1	HBVgp3	BIND	PubMed	X interacts with XAP2.
O00170	P35869	AHR	HPRD	PubMed
O00170	P27540	ARNT	HPRD	PubMed
O00170	P68400	CSNK2A1	HPRD	PubMed
O00170	P27815	PDE4A	HPRD	PubMed
O00170	Q07869	PPARA	HPRD	PubMed
O00170	Q15185	PTGES3	HPRD	PubMed
O00170	Q59H18	TNNI3K	HPRD	PubMed
O00170	Q15388	TOMM20	HPRD	PubMed
BioGRID:114511	BioGRID:106699	AHR	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:114511	BioGRID:106898	ARNT	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:114511	BioGRID:108276	EGFR	BioGRID	PubMed	PCA
BioGRID:114511	BioGRID:115914	GNA13	BioGRID	PubMed	Reconstituted Complex
BioGRID:114511	BioGRID:109552	HSP90AA1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:114511	BioGRID:114089	IKBKG	BioGRID	PubMed	Two-hybrid
BioGRID:114511	BioGRID:109873	IRF7	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:114511	BioGRID:111461	PPARA	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:114511	BioGRID:116162	STIP1	BioGRID	PubMed	Reconstituted Complex
BioGRID:114511	BioGRID:119276	TNNI3K	BioGRID	PubMed	Two-hybrid
BioGRID:114511	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
GAF domain binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
signal transducer activity	TAS Traceable Author Statement more info	PubMed
transcription coactivator activity	TAS Traceable Author Statement more info	PubMed
transcription factor binding	TAS Traceable Author Statement more info	PubMed
unfolded protein binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
negative regulation of cyclic-nucleotide phosphodiesterase activity	IEA Inferred from Electronic Annotation more info
protein maturation by protein folding	IDA Inferred from Direct Assay more info	PubMed
protein targeting to mitochondrion	IDA Inferred from Direct Assay more info	PubMed
regulation of protein kinase A signaling cascade	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
xenobiotic metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info	PubMed
cytosolic part	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: AH receptor-interacting protein

Names: AH receptor-interacting protein; immunophilin homolog ARA9; HBV X-associated protein 2

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008969.1 RefSeqGene

Range

5001..13075

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003977.2 → NP_003968.2 AH receptor-interacting protein

Status: REVIEWED

Source sequence(s)

AP001184, BG821308, BU689235, CN480874

Consensus CDS

CCDS8168.1

UniProtKB/Swiss-Prot

O00170

Related

ENSP00000279146, OTTHUMP00000236412, ENST00000279146, OTTHUMT00000395516

Conserved Domains (2) summary

cd00189
Location:189 – 296
Blast Score: 105

TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...

cl11587
Location:29 – 90
Blast Score: 134

FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

67250505..67258579

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

63579484..63587558

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AM236341.1	CAJ85657.1
genomic	AP001184.4	None
genomic	AP003419.3 (163513..163885)	None
genomic	CH471076.1	EAW74637.1
genomic	EF203238.1	ABO16001.1
genomic	GQ847771.1	ACX54433.1
mRNA	BC104797.1	AAI04798.1
mRNA	BC104827.1	AAI04828.1
mRNA	BG821308.1	None
mRNA	BU689235.1	None
mRNA	CN480874.1	None
mRNA	U31913.1	AAB39923.1
mRNA	U78521.1	AAB59004.1
other-genetic	EU446613.1	ABZ92142.1