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O00170

- AIP_HUMAN

UniProt

O00170 - AIP_HUMAN

Protein

AH receptor-interacting protein

Gene

AIP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 2 (28 Jul 2009)
      Previous versions | rss
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    Functioni

    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.

    GO - Molecular functioni

    1. GAF domain binding Source: UniProtKB
    2. protein binding Source: UniProtKB
    3. signal transducer activity Source: ProtInc
    4. transcription coactivator activity Source: ProtInc
    5. transcription factor binding Source: ProtInc
    6. unfolded protein binding Source: HGNC

    GO - Biological processi

    1. negative regulation of cyclic-nucleotide phosphodiesterase activity Source: Ensembl
    2. protein maturation by protein folding Source: HGNC
    3. protein targeting to mitochondrion Source: HGNC
    4. regulation of protein kinase A signaling Source: Ensembl
    5. regulation of RNA biosynthetic process Source: GOC
    6. signal transduction Source: GOC
    7. xenobiotic metabolic process Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    AH receptor-interacting protein
    Short name:
    AIP
    Alternative name(s):
    Aryl-hydrocarbon receptor-interacting protein
    HBV X-associated protein 2
    Short name:
    XAP-2
    Immunophilin homolog ARA9
    Gene namesi
    Name:AIP
    Synonyms:XAP2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:358. AIP.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. cytosol Source: UniProtKB
    3. membrane Source: Ensembl
    4. nucleus Source: HPA

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Growth hormone-secreting pituitary adenoma (GHSPA) [MIM:102200]: Pituitary adenomas include somatotropinoma and prolactinoma.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    ACTH-secreting pituitary adenoma (ASPA) [MIM:219090]: A pituitary 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 truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Prolactin-secreting pituitary adenoma (PSPA) [MIM:600634]: Most common type of hormonally active pituitary adenoma.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Cushing syndrome

    Organism-specific databases

    MIMi102200. phenotype.
    219090. phenotype.
    600634. phenotype.
    Orphaneti963. Acromegaly.
    314777. Familial isolated pituitary adenoma.
    PharmGKBiPA24652.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 330330AH receptor-interacting proteinPRO_0000075339Add
    BLAST

    Proteomic databases

    MaxQBiO00170.
    PaxDbiO00170.
    PRIDEiO00170.

    PTM databases

    PhosphoSiteiO00170.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiO00170.
    BgeeiO00170.
    CleanExiHS_AIP.
    GenevestigatoriO00170.

    Organism-specific databases

    HPAiHPA004063.
    HPA050217.

    Interactioni

    Subunit structurei

    Interacts with RET in the pituitary gland; this interaction prevents the formation of the AIP-survivin complex.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    HSP90AB1P082383EBI-704197,EBI-352572
    IRF7Q929852EBI-704197,EBI-968267
    PDE2AO004086EBI-704197,EBI-1785967

    Protein-protein interaction databases

    BioGridi114511. 23 interactions.
    DIPiDIP-34068N.
    IntActiO00170. 26 interactions.
    MINTiMINT-5000425.
    STRINGi9606.ENSP00000279146.

    Structurei

    Secondary structure

    1
    330
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi4 – 96
    Beta strandi17 – 193
    Beta strandi33 – 375
    Beta strandi39 – 413
    Beta strandi43 – 464
    Beta strandi49 – 535
    Turni54 – 574
    Beta strandi60 – 678
    Helixi72 – 776
    Beta strandi85 – 895
    Helixi92 – 954
    Helixi98 – 1058
    Helixi108 – 1103
    Turni113 – 1175
    Turni137 – 1393
    Helixi140 – 1434
    Beta strandi149 – 15810
    Turni160 – 1623
    Helixi173 – 1764
    Helixi178 – 19215
    Helixi195 – 21319
    Helixi221 – 24323
    Helixi248 – 26013
    Helixi265 – 27713
    Helixi281 – 29414
    Helixi296 – 2983
    Helixi299 – 31113

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2LKNNMR-A2-166[»]
    4AIFX-ray2.01A/B172-315[»]
    4APOX-ray1.90A/B166-330[»]
    ProteinModelPortaliO00170.
    SMRiO00170. Positions 2-166, 173-325.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini31 – 12191PPIase FKBP-typePROSITE-ProRule annotationAdd
    BLAST
    Repeati179 – 21234TPR 1Add
    BLAST
    Repeati265 – 29834TPR 2Add
    BLAST

    Sequence similaritiesi

    Contains 1 PPIase FKBP-type domain.PROSITE-ProRule annotation
    Contains 2 TPR repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, TPR repeat

    Phylogenomic databases

    eggNOGiNOG250378.
    HOVERGENiHBG004198.
    InParanoidiO00170.
    KOiK17767.
    OMAiHSDKEGT.
    PhylomeDBiO00170.
    TreeFamiTF314507.

    Family and domain databases

    Gene3Di1.25.40.10. 1 hit.
    InterProiIPR001179. PPIase_FKBP_dom.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR019734. TPR_repeat.
    [Graphical view]
    PfamiPF00254. FKBP_C. 1 hit.
    [Graphical view]
    PROSITEiPS50059. FKBP_PPIASE. 1 hit.
    PS50005. TPR. 1 hit.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O00170-1 [UniParc]FASTAAdd to Basket

    « Hide

    MADIIARLRE DGIQKRVIQE GRGELPDFQD GTKATFHYRT LHSDDEGTVL    50
    DDSRARGKPM ELIIGKKFKL PVWETIVCTM REGEIAQFLC DIKHVVLYPL 100
    VAKSLRNIAV GKDPLEGQRH CCGVAQMREH SSLGHADLDA LQQNPQPLIF 150
    HMEMLKVESP GTYQQDPWAM TDEEKAKAVP LIHQEGNRLY REGHVKEAAA 200
    KYYDAIACLK NLQMKEQPGS PEWIQLDQQI TPLLLNYCQC KLVVEEYYEV 250
    LDHCSSILNK YDDNVKAYFK RGKAHAAVWN AQEAQADFAK VLELDPALAP 300
    VVSRELQALE ARIRQKDEED KARFRGIFSH 330
    Length:330
    Mass (Da):37,636
    Last modified:July 28, 2009 - v2
    Checksum:i9302AA6D0F8D8F51
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161R → H.2 Publications
    Corresponds to variant rs145047094 [ dbSNP | Ensembl ].
    VAR_043908
    Natural varianti47 – 548Missing in patients with pituitary adenoma; unknown pathological significance.
    VAR_058407
    Natural varianti228 – 2281Q → K.5 Publications
    Corresponds to variant rs641081 [ dbSNP | Ensembl ].
    VAR_043909
    Natural varianti241 – 2411K → E in patients with pituitary adenoma; unknown pathological significance. 1 Publication
    VAR_043910
    Natural varianti248 – 2481Missing in a ACTH-secreting pituitary adenoma patient; unknown pathological significance. 1 Publication
    VAR_043911
    Natural varianti271 – 2711R → W in patients with pituitary adenoma; unknown pathological significance. 1 Publication
    VAR_043912
    Natural varianti304 – 3041R → Q in a ACTH-secreting pituitary adenoma patient. 1 Publication
    VAR_043913
    Natural varianti307 – 3071Q → R.4 Publications
    Corresponds to variant rs4930199 [ dbSNP | Ensembl ].
    VAR_061545

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U31913 mRNA. Translation: AAB39923.1.
    U78521 mRNA. Translation: AAB59004.1.
    AM236341 Genomic DNA. Translation: CAJ85657.1.
    EF066502 Genomic DNA. Translation: ABK60081.1.
    EF066504 Genomic DNA. Translation: ABK60082.1.
    EF066505 Genomic DNA. Translation: ABK60083.1.
    EF066510 Genomic DNA. Translation: ABK60084.1.
    BC104827 mRNA. Translation: AAI04828.1.
    BC104797 mRNA. Translation: AAI04798.1.
    CCDSiCCDS8168.1.
    RefSeqiNP_003968.2. NM_003977.2.
    UniGeneiHs.412433.

    Genome annotation databases

    EnsembliENST00000279146; ENSP00000279146; ENSG00000110711.
    GeneIDi9049.
    KEGGihsa:9049.
    UCSCiuc001olv.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U31913 mRNA. Translation: AAB39923.1 .
    U78521 mRNA. Translation: AAB59004.1 .
    AM236341 Genomic DNA. Translation: CAJ85657.1 .
    EF066502 Genomic DNA. Translation: ABK60081.1 .
    EF066504 Genomic DNA. Translation: ABK60082.1 .
    EF066505 Genomic DNA. Translation: ABK60083.1 .
    EF066510 Genomic DNA. Translation: ABK60084.1 .
    BC104827 mRNA. Translation: AAI04828.1 .
    BC104797 mRNA. Translation: AAI04798.1 .
    CCDSi CCDS8168.1.
    RefSeqi NP_003968.2. NM_003977.2.
    UniGenei Hs.412433.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2LKN NMR - A 2-166 [» ]
    4AIF X-ray 2.01 A/B 172-315 [» ]
    4APO X-ray 1.90 A/B 166-330 [» ]
    ProteinModelPortali O00170.
    SMRi O00170. Positions 2-166, 173-325.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114511. 23 interactions.
    DIPi DIP-34068N.
    IntActi O00170. 26 interactions.
    MINTi MINT-5000425.
    STRINGi 9606.ENSP00000279146.

    PTM databases

    PhosphoSitei O00170.

    Proteomic databases

    MaxQBi O00170.
    PaxDbi O00170.
    PRIDEi O00170.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000279146 ; ENSP00000279146 ; ENSG00000110711 .
    GeneIDi 9049.
    KEGGi hsa:9049.
    UCSCi uc001olv.3. human.

    Organism-specific databases

    CTDi 9049.
    GeneCardsi GC11P067251.
    GeneReviewsi AIP.
    HGNCi HGNC:358. AIP.
    HPAi HPA004063.
    HPA050217.
    MIMi 102200. phenotype.
    219090. phenotype.
    600634. phenotype.
    605555. gene.
    neXtProti NX_O00170.
    Orphaneti 963. Acromegaly.
    314777. Familial isolated pituitary adenoma.
    PharmGKBi PA24652.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG250378.
    HOVERGENi HBG004198.
    InParanoidi O00170.
    KOi K17767.
    OMAi HSDKEGT.
    PhylomeDBi O00170.
    TreeFami TF314507.

    Miscellaneous databases

    GeneWikii AH_receptor-interacting_protein.
    GenomeRNAii 9049.
    NextBioi 33903.
    PROi O00170.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O00170.
    Bgeei O00170.
    CleanExi HS_AIP.
    Genevestigatori O00170.

    Family and domain databases

    Gene3Di 1.25.40.10. 1 hit.
    InterProi IPR001179. PPIase_FKBP_dom.
    IPR013026. TPR-contain_dom.
    IPR011990. TPR-like_helical.
    IPR019734. TPR_repeat.
    [Graphical view ]
    Pfami PF00254. FKBP_C. 1 hit.
    [Graphical view ]
    PROSITEi PS50059. FKBP_PPIASE. 1 hit.
    PS50005. TPR. 1 hit.
    PS50293. TPR_REGION. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ARG-307.
      Tissue: Lymphoma.
    2. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LYS-228 AND ARG-307.
      Tissue: B-cell.
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS LYS-228 AND ARG-307, INVOLVEMENT IN PITUITARY ADENOMAS.
    4. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS 47-GLY--ARG-54 DEL; HIS-16; GLU-241 AND TRP-271, INVOLVEMENT IN GHSPA.
    5. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS LYS-228 AND ARG-307.
      Tissue: Brain.
    6. "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] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN GHSPA, VARIANT LYS-228.
    9. "The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability."
      Vargiolu M., Fusco D., Kurelac I., Dirnberger D., Baumeister R., Morra I., Melcarne A., Rimondini R., Romeo G., Bonora E.
      J. Clin. Endocrinol. Metab. 94:2571-2578(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RET.
    10. Cited for: VARIANTS HIS-16 AND GLN-304, INVOLVEMENT IN ACTH-SECRETING PITUITARY ADENOMA, INVOLVEMENT IN GHSPA.
    11. "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] [Europe PMC] [Abstract]
      Cited for: VARIANT TYR-248 DEL, INVOLVEMENT IN GHSPA.
    12. Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-228, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiAIP_HUMAN
    AccessioniPrimary (citable) accession number: O00170
    Secondary accession number(s): A0SZW3
    , A0SZW4, A0SZW5, A0SZW6, Q2M3Q2, Q99606
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: July 28, 2009
    Last modified: October 1, 2014
    This is version 134 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3