Reviewed,
UniProtKB/Swiss-Prot O00170 (AIP_HUMAN)
Last modified
February 9, 2010.
Version 92.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended 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 |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 330 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence 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 | |
| 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]. Pituitary adenomas include somatotropinoma and prolactinoma. Ref.8 Defects in AIP are a cause of familial isolated pituitary adenoma (FIPA) [MIM:102200]. Ref.4 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. Ref.11 Defects in AIP are a cause of prolactin-secreting pituitary adenoma [MIM:600634]; also known as prolactinoma. Prolactin-secreting pituitary adenoma is the most common type of hormonally active pituitary adenoma. |
| Sequence similarities | Contains 1 PPIase FKBP-type domain. Contains 2 TPR repeats. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Polymorphism |
| Domain | Repeat TPR repeat |
| PTM | Acetylation Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | protein maturation by protein folding Inferred from direct assay. Source: HGNC protein targeting to mitochondrionInferred from direct assay. Source: HGNC |
| Cellular component | cytosol Traceable author statement. Source: HGNC |
| Molecular function | transcription coactivator activity Traceable author statement. Source: ProtInc unfolded protein bindingInferred from direct assay. Source: HGNC |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| AHR | P35869 | 1 | EBI-704197,EBI-80780 | |
| PDE2A | O00408 | 4 | EBI-704197,EBI-1785967 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed | ||||||
| Chain | 2 – 330 | 329 | AH receptor-interacting protein | PRO_0000075339 | |||||
Regions | |||||||||
| Domain | 31 – 121 | 91 | PPIase FKBP-type | ||||||
| Repeat | 179 – 212 | 34 | TPR 1 | ||||||
| Repeat | 265 – 298 | 34 | TPR 2 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine Ref.10 | ||||||
| Modified residue | 248 | 1 | Phosphotyrosine Ref.6 | ||||||
Natural variations | |||||||||
| Natural variant | 16 | 1 | R → H | VAR_043908 | |||||
| Natural variant | 47 – 54 | 8 | Missing in FIPA patients; uncertain pathogenicity. | VAR_058407 | |||||
| Natural variant | 228 | 1 | Q → K: dbSNP rs641081. Ref.2 Ref.3 Ref.5 Ref.9 | VAR_043909 | |||||
| Natural variant | 241 | 1 | K → E in FIPA patients; uncertain pathogenicity. Ref.4 | VAR_043910 | |||||
| Natural variant | 248 | 1 | Missing in a ACTH-secreting pituitary adenoma patient; uncertain pathogenicity. Ref.6 Ref.12 | VAR_043911 | |||||
| Natural variant | 271 | 1 | R → W in FIPA patients; uncertain pathogenicity. Ref.4 | VAR_043912 | |||||
| Natural variant | 304 | 1 | R → Q in a ACTH-secreting pituitary adenoma patient. Ref.11 | VAR_043913 | |||||
| Natural variant | 307 | 1 | Q → R: dbSNP rs4930199. Ref.2 Ref.3 Ref.5 Ref.1 | VAR_061545 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [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: 8972861] [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: 9111057] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LYS-228 AND ARG-307. Tissue: B-cell. |
| [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], VARIANTS LYS-228 AND ARG-307, INVOLVEMENT IN PITUITARY ADENOMAS. |
| [4] | "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. Beckers A.J. Clin. Endocrinol. Metab. 92:1891-1896(2007) [PubMed: 17244780] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS 47-GLY--ARG-54 DEL; HIS-16; GLU-241 AND TRP-271, INVOLVEMENT IN GROWTH HORMONE-SECRETING PITUITARY ADENOMA, INVOLVEMENT IN FIPA. |
| [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: 15489334] [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: 15592455] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-248, MASS SPECTROMETRY. |
| [7] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION BY MASS SPECTROMETRY. |
| [8] | "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. |
| [9] | "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 LYS-228. |
| [10] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, MASS SPECTROMETRY. |
| [11] | "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. |
| [12] | "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 | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00953925. |
| RefSeq | NP_003968.2. |
| UniGene | Hs.412433 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O00170. 3 interactions. |
| STRING | O00170. |
PTM databases | |
| PhosphoSite | O00170. |
Proteomic databases | |
| PRIDE | O00170. |
Genome annotation databases | |
| Ensembl | ENST00000279146; ENSP00000279146; ENSG00000110711; Homo sapiens. [Genome view] |
| GeneID | 9049. |
| KEGG | hsa:9049. |
| UCSC | uc001olv.1. human. |
Organism-specific databases | |
| CTD | 9049. |
| GeneCards | GC11P067007. |
| H-InvDB | HIX0036007. |
| HGNC | HGNC:358. AIP. |
| HPA | HPA004063. |
| MIM | 102200. phenotype. 219090. phenotype. 600634. phenotype. 605555. gene. |
| Orphanet | 96254. Prolactinoma, familial. 96256. Somatotroph adenoma. |
| PharmGKB | PA24652. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | O00170. |
| InParanoid | O00170. |
| OMA | HVVLYPL. |
| OrthoDB | EOG9KD958. |
Gene expression databases | |
| ArrayExpress | O00170. |
| Bgee | O00170. |
| CleanEx | HS_AIP. |
| Genevestigator | O00170. |
| GermOnline | ENSG00000110711. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001179. PPIase_FKBP. IPR013026. TPR-contain. IPR011990. TPR-like_helical. IPR019734. TPR_repeat. [Graphical view] |
| Gene3D | G3DSA:1.25.40.10. TPR-like_helical. 1 hit. |
| Pfam | PF00254. FKBP_C. 1 hit. [Graphical view] |
| PROSITE | PS50059. FKBP_PPIASE. 1 hit. PS50005. TPR. 1 hit. PS50293. TPR_REGION. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 33903. |
| SOURCE | Search... |
Entry information
| Entry name | AIP_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O00170 Secondary accession number(s): A0SZW3 Q99606 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any 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. | ||||||||
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 |

Clusters with


