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O00170

- AIP_HUMAN

UniProt

O00170 - AIP_HUMAN

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Protein
AH receptor-interacting protein
Gene
AIP, XAP2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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 RNA biosynthetic process Source: GOC
  5. regulation of protein kinase A signaling Source: Ensembl
  6. signal transduction Source: GOC
  7. xenobiotic metabolic process Source: Ensembl
Complete GO annotation...

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
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Growth hormone-secreting pituitary adenoma (GHSPA) [MIM:102200]: Pituitary adenomas include somatotropinoma and prolactinoma.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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.
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 protein
PRO_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
IRF7Q929852EBI-704197,EBI-968267
PDE2AO004086EBI-704197,EBI-1785967

Protein-protein interaction databases

BioGridi114511. 23 interactions.
DIPiDIP-34068N.
IntActiO00170. 13 interactions.
MINTiMINT-5000425.
STRINGi9606.ENSP00000279146.

Structurei

Secondary structure

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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Contains 2 TPR repeats.

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...

Protein-protein interaction databases

BioGridi 114511. 23 interactions.
DIPi DIP-34068N.
IntActi O00170. 13 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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 133 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

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