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Reviewed, UniProtKB/Swiss-Prot O00170 (AIP_HUMAN)

Last modified November 25, 2008. Version 76. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    AH receptor-interacting protein
      Short name=AIP
Alternative name(s):
    Aryl-hydrocarbon receptor-interacting protein
    Immunophilin homolog ARA9
    HBV X-associated protein 2
      Short name=XAP-2
Gene names
Name: AIP
Synonyms: XAP2
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length330 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

General annotation (Comments)

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.

Cellular negative regulator of the hepatitis B virus (HBV) X protein.

Subcellular location

Cytoplasm.

Tissue specificity

Widely expressed. Higher levels seen in the heart, placenta and skeletal muscle. Not expressed in the liver.

Involvement in disease

Defects in AIP are a cause of pituitary adenoma predisposition (PAP) [MIM:102200].

Defects in AIP are a cause of familial isolated pituitary adenoma (FIPA) [MIM:102200].

Defects in AIP are a cause of growth hormone-secreting pituitary adenoma [MIM:102200]; also known as familial isolated somatotropinomas (FIS) or isolated familial somatotropinoma (IFS) or familial somatotrophinoma or acromegaly due to pituitary adenoma.

Defects in AIP are a cause of ACTH-secreting pituitary adenoma [MIM:219090]; also known as pituitary Cushing disease. Cushing disease is a condition associated with increased blood cortisol resulting from adrenocorticotropic hormone (ACTH)-producing pituitary tumors that are resistant to glucocorticoid negative feedback.

Sequence similarities

Contains 1 PPIase FKBP-type domain.

Contains 2 TPR repeats.

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 330330AH receptor-interacting protein
PRO_0000075339

Regions

Domain31 – 12191PPIase FKBP-type
Repeat179 – 21234TPR 1
Repeat265 – 29834TPR 2

Amino acid modifications

Modified residue2481Phosphotyrosine

Natural variations

Natural variant161R → H
VAR_043908
Natural variant2281K → Q: dbSNP rs641081.
VAR_043909
Natural variant2411K → E in FIPA patients; uncertain pathogenicity.
VAR_043910
Natural variant2481Missing in a ACTH-secreting pituitary adenoma patient; uncertain pathogenicity.
VAR_043911
Natural variant2711R → W in FIPA patients; uncertain pathogenicity.
VAR_043912
Natural variant3041R → Q in a ACTH-secreting pituitary adenoma patient.
VAR_043913

Sequences

Sequence LengthMass (Da)Tools
O00170-1 [UniParc].

Last modified July 1, 1997. Version 1.
Checksum: 5C0D59A22E5F9BF8

FASTA33037,664
        10         20         30         40         50         60 
MADIIARLRE DGIQKRVIQE GRGELPDFQD GTKATFHYRT LHSDDEGTVL DDSRARGKPM 

        70         80         90        100        110        120 
ELIIGKKFKL PVWETIVCTM REGEIAQFLC DIKHVVLYPL VAKSLRNIAV GKDPLEGQRH 

       130        140        150        160        170        180 
CCGVAQMREH SSLGHADLDA LQQNPQPLIF HMEMLKVESP GTYQQDPWAM TDEEKAKAVP 

       190        200        210        220        230        240 
LIHQEGNRLY REGHVKEAAA KYYDAIACLK NLQMKEQPGS PEWIQLDKQI TPLLLNYCQC 

       250        260        270        280        290        300 
KLVVEEYYEV LDHCSSILNK YDDNVKAYFK RGKAHAAVWN AQEAQADFAK VLELDPALAP 

       310        320        330 
VVSRELRALE ARIRQKDEED KARFRGIFSH 

« Hide

References

« Hide 'large scale' references
[1]"Ligand-dependent interaction of the aryl hydrocarbon receptor with a novel immunophilin homolog in vivo."
Carver L.A., Bradfield C.A.
J. Biol. Chem. 272:11452-11456(1997) [PubMed: 9111057] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: B-cell.
[2]"XAP2, a novel hepatitis B virus X-associated protein that inhibits X transactivation."
Kuzhandaivelu N., Cong Y.-S., Inouye C., Yang W.-M., Seto E.
Nucleic Acids Res. 24:4741-4750(1996) [PubMed: 8972861] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-228.
Tissue: Lymphoma.
[3]"Pituitary adenoma predisposition caused by germline mutations in the AIP gene."
Vierimaa O., Georgitsi M., Lehtonen R., Vahteristo P., Kokko A., Raitila A., Tuppurainen K., Ebeling T.M.L., Salmela P.I., Paschke R., Gundogdu S., de Menis E., Jaervinen M.J., Launonen V., Karhu A., Aaltonen L.A.
Science 312:1228-1230(2006) [PubMed: 16728643] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN PAP, INVOLVEMENT IN GROWTH HORMONE-SECRETING PITUITARY ADENOMA.
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[5]"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells."
Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J.
Nat. Biotechnol. 23:94-101(2005) [PubMed: 15592455] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-248, MASS SPECTROMETRY.
[6]"Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families."
Daly A.F., Vanbellinghen J.-F., Khoo S.K., Jaffrain-Rea M.-L., Naves L.A., Guitelman M.A., Murat A., Emy P., Gimenez-Roqueplo A.-P., Tamburrano G., Raverot G., Barlier A., De Herder W., Penfornis A., Ciccarelli E., Estour B., Lecomte P., Gatta B. expand/collapse author list , Chabre O., Sabate M.I., Bertagna X., Garcia Basavilbaso N., Stalldecker G., Colao A., Ferolla P., Wemeau J.-L., Caron P., Sadoul J.-L., Oneto A., Archambeaud F., Calender A., Sinilnikova O., Montanana C.F., Cavagnini F., Hana V., Solano A., Delettieres D., Luccio-Camelo D.C., Basso A., Rohmer V., Brue T., Bours V., Teh B.T., Beckers A.
J. Clin. Endocrinol. Metab. 92:1891-1896(2007) [PubMed: 17244780] [Abstract]
Cited for: VARIANTS HIS-16; GLU-241 AND TRP-271, INVOLVEMENT IN GROWTH HORMONE-SECRETING PITUITARY ADENOMA, INVOLVEMENT IN FIPA.
[7]"Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma."
Toledo R.A., Lourenco D.M. Jr., Liberman B., Cunha-Neto M.B.C., Cavalcanti M.G., Moyses C.B., Toledo S.P.A., Dahia P.L.M.
J. Clin. Endocrinol. Metab. 92:1934-1937(2007) [PubMed: 17341560] [Abstract]
Cited for: INVOLVEMENT IN PAP.
[8]"Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas."
Barlier A., Vanbellinghen J.-F., Daly A.F., Silvy M., Jaffrain-Rea M.-L., Trouillas J., Tamagno G., Cazabat L., Bours V., Brue T., Enjalbert A., Beckers A.
J. Clin. Endocrinol. Metab. 92:1952-1955(2007) [PubMed: 17299063] [Abstract]
Cited for: INVOLVEMENT IN GROWTH HORMONE-SECRETING PITUITARY ADENOMA, VARIANT GLN-228.
[9]"Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations."
Georgitsi M., Raitila A., Karhu A., Tuppurainen K., Maekinen M.J., Vierimaa O., Paschke R., Saeger W., van der Luijt R.B., Sane T., Robledo M., De Menis E., Weil R.J., Wasik A., Zielinski G., Lucewicz O., Lubinski J., Launonen V., Vahteristo P., Aaltonen L.A.
Proc. Natl. Acad. Sci. U.S.A. 104:4101-4105(2007) [PubMed: 17360484] [Abstract]
Cited for: VARIANTS HIS-16 AND GLN-304, INVOLVEMENT IN ACTH-SECRETING PITUITARY ADENOMA, INVOLVEMENT IN GROWTH HORMONE-SECRETING PITUITARY ADENOMA.
[10]"Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas."
Georgitsi M., De Menis E., Cannavo S., Maekinen M.J., Tuppurainen K., Pauletto P., Curto L., Weil R.J., Paschke R., Zielinski G., Wasik A., Lubinski J., Vahteristo P., Karhu A., Aaltonen L.A.
Clin. Endocrinol. (Oxf.) 69:621-627(2008) [PubMed: 18410548] [Abstract]
Cited for: VARIANT TYR-248 DEL, INVOLVEMENT IN GROWTH HORMONE-SECRETING PITUITARY ADENOMA.
+Additional computationally mapped references.

Cross-references

Sequence databases

U78521 mRNA. Translation: AAB59004.1.
U31913 mRNA. Translation: AAB39923.1.
AM236341 Genomic DNA. Translation: CAJ85657.1.
BC104827 mRNA. Translation: AAI04828.1.
BC104797 mRNA. Translation: AAI04798.1.
UniGeneHs.412433

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActO00170.

PTM databases

PhosphoSiteO00170.

Genome annotation databases

EnsemblENSG00000110711. Homo sapiens. [Contig view]
KEGGhsa:9049.

Organism-specific databases

H-InvDBHIX0036007.
HGNCHGNC:358. AIP.
HPAHPA004063.
MIM102200. phenotype.
219090. phenotype.
605555. gene.
PharmGKBPA24652.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMO00170.
HOVERGENO00170.

Gene expression databases

ArrayExpressO00170.
CleanExHS_AIP.
GermOnlineENSG00000110711. Homo sapiens.

Family and domain databases

InterProIPR001179. PPIase_FKBP.
IPR011990. TPR-like_helical.
IPR013105. TPR_2.
IPR013026. TPR_region.
[Graphical view]
Gene3DG3DSA:1.25.40.10. TPR-like_helical. 1 hit.
PfamPF00254. FKBP_C. 1 hit.
PF07719. TPR_2. 1 hit.
[Graphical view]
PROSITEPS50059. FKBP_PPIASE. 1 hit.
PS50005. TPR. 1 hit.
PS50293. TPR_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio33903.
SOURCESearch...

Entry information

Entry nameAIP_HUMAN
AccessionPrimary (citable) accession number: O00170
Secondary accession number(s): Q2M3Q2, Q99606
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: July 1, 1997
Last modified: November 25, 2008
This is version 76 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents