AIP (aryl hydrocarbon receptor interacting protein)

Written2012-11Sayka Barry, Márta Korbonits
Molecular Oncology Centre, Barts Cancer Institute, Queen Mary University of London, London, United Kingdom (SB); Department of Endocrinology, Barts, the London School of Medicine, Queen Mary University of London, London, United Kingdom (MK)

(Note : for Links provided by Atlas : click)

1. Identity

Alias_names
General Information
Alias_symbol (synonym)XAP2
ARA9
FKBP16
Other aliasFKBP37
SMTPHN
XAP-2
HGNC (Hugo) AIP
LocusID (NCBI) 9049
Atlas_Id 604
Location 11q13.2  [Link to chromosome band 11q13]
Location_base_pair Starts at 67483029 and ends at 67491108 bp from pter ( according to hg19-Feb_2009)  [Mapping AIP.png]
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

2. DNA/RNA

Description The AIP gene is located on Chromosome 11 at 67250505-67258579 (GRCh37/hg19). The AIP gene is composed of 6 exons and spans approximately 8.07 kb of genomic DNA.
Transcription AIP gene encodes a 1250bp mRNA transcript. No splice variants have been identified.
Pseudogene No pseudogene reported.

3. Protein

Description AIP protein consists of 330 amino acids with a molecular weight of 37 kDa.
AIP belongs to the family of tetratricopeptide repeat (TPR) domain-containing proteins. It has three TPR-domains which are important for protein-protein interactions and an α helix at the C-terminal region and a PPIase-like domain (FKBP-type) in the N-terminus.
Expression AIP is expressed ubiquitously and found in various human tissues such as: heart, brain, lung, placenta, kidney, skeletal muscle, mouth mucosa, exocrine pancreas, salivary gland, stomach, parathyroid, tonsil, nerve, ovary, connective adipose tissue, spleen, thymus, prostate, testis, colon, leucocytes and pituitary (Kuzhandaivelu et al., 1996; Leontiou et al., 2008).
Localisation Cytoplasm and nucleus.
Function To date, several AIP interacting partners have been identified including HBV-X, EBNA-3, AhR, Hsp90, Hsc70, PDE4A5, PDE2A3, PPARα, TRβ1, Gα13, Gαq, TOMM20, RET, survivin and ERα, which may indicate that AIP is involved in various cellular pathways, however, the consequenses ot these interactions are not fully understood (Cai et al., 2011; Trivellin and Korbonits, 2011).
Clinical and functional data supports its role as a tumour suppressor gene. Loss of heterozygosity (LOH) is found in AIP mutation positive tumours. Our lab has previously shown that over-expression of wild-type AIP in human fibroblast and pituitary cell lines reduced cell proliferation compared with the empty vector control in vitro whereas the mutant AIP loses this ability compared to the wild-type AIP (Leontiou et al., 2008). AIP knockdown with siRNA also supports the tumour-suppressor role for AIP as it results in increased cell proliferation in GH3 cells (Heliovaara et al., 2009; Leontiou et al., 2008).
Homozygous deletion of AIP is embryonically lethal due to cardiovascular developmental abnormalities and erythropoetic failure (Kang et al., 2011; Lin et al., 2007), suggesting that AIP has a crucial role for cardiac development and for maintaining erythropoiesis in mice. Heterozygote deletion of the AIP gene lead to the development of growth hormone- and prolactin-secreting pituitary adenomas (Raitila et al., 2010).
AIP is a molecular co-chaperone protein. The most studied partner is the nuclear xenobiotic receptor AhR (aryl hydrocarbon receptor). AIP regulates its sub-cellular localization and degradation. AhR, also known as dioxin receptor is a ligand activated transcription factor found in the cytoplasm as part of a multiprotein complex with Hsp90 (Perdew, 1988), AIP (Carver and Bradfield, 1997; Meyer et al., 1998) and p23 (Kazlauskas et al., 1999). After binding to its ligand it is transported to the nucleus where it heterodimerizes with aryl hydrocarbon receptor nuclear translocator (ARNT). This complex then binds to DNA recognition sequences known as xenobiotic inducible response elements (XREs/DREs/AHREs) within the promoter region of specific genes, leading to the transcription of xenobiotic-metabolizing enzymes. However, there is conflicting data regarding the role of AIP on AhR function. Some findings suggested that AIP has a role in stabilising unliganded AhR in the cytoplasm (LaPres et al., 2000; Meyer and Perdew, 1999; Nukaya et al., 2010), therefore AIP may play a positive role in AhR-mediated signalling. In contrast, other studies have suggested that AIP has a negative effect on AhR transcriptional activity (Hollingshead et al., 2004; Pollenz et al., 2006; Pollenz and Dougherty, 2005). AIP has other functions related to the other interacting partners but it is currently not known how lack of AIP leads to pituitary tumorigenesis.
Homology AIP shares 94% and 93% sequence identity with mouse and rat AIP respectively.

4. Mutations

Germinal Germline mutations of AIP are associated with familial isolated pituitary adenoma (FIPA). Approximately 20% of FIPA families and 13% of sporadic young (
Somatic Somatic mutations in AIP have not been found to date in sporadic pituitary adenomas. Somatic mutations in AIP have been investigated in colorectal cancers, breast cancers, prostate tumours (Georgitsi et al., 2007) as well as endocrine tumours (thyroid lesions, adrenal lesions, carcinoids, parathyroid lesions, paragangliomas, pancreatic endocrine tumours and adenocarcinoids) but no somatic mutations were found (Raitila et al., 2007; Tichomirowa et al., 2011).

5. Implicated in

Note
  
Entity Familial isolated pituitary adenoma (FIPA) and simplex pituitary adenoma cases with germline AIP mutation
Note Familial isolated pituitary adenoma (FIPA) is an autosomal dominant disease with incomplete penetrance. Heterozygote germline mutations have been identified in the aryl hydrocarbon receptor interacting protein (AIP) gene in 20% of FIPA families. FIPA has been characterised in >200 families. Most of the FIPA families with AIP mutations presented somatotropinomas or somatomammotropinomas followed by prolactinomas as well as non-functioning adenomas and very rarely corticotroph or thyrotropinomas. Approximately, eighty five percent of AIP mutation positive FIPA patients have acromegaly and around fifty percent with AIP mutation positive somatotropinomas are associated with gigantism (Daly et al., 2010). Pituitary tumours in AIP mutation positive patients have larger, more aggressive, invasive tumours, most commonly sparsely granulated subtype which show a poor response to somatostatin analogues (Daly et al., 2010) and also have a younger age at disease onset (18-24 years) (Korbonits and Kumar, 2012).
Prognosis AIP mutation positive patients show younger mean age at diagnosis than sporadic pituitary cases. Decreased level of AIP has been correlated with tumour invassiveness in somatotropinomas (Kasuki Jomori de Pinho et al., 2011). Genetic screening is now able to stratify carrier subjects and help to diagnose the presymptomatic patients (Chahal et al., 2011).
  

6. Bibliography

The immunophilin-like protein XAP2 is a negative regulator of estrogen signaling through interaction with estrogen receptor α.
Cai W, Kramarova TV, Berg P, Korbonits M, Pongratz I.
PLoS One. 2011;6(10):e25201. doi: 10.1371/journal.pone.0025201. Epub 2011 Oct 3.
PMID 21984905
 
Ligand-dependent interaction of the aryl hydrocarbon receptor with a novel immunophilin homolog in vivo.
Carver LA, Bradfield CA.
J Biol Chem. 1997 Apr 25;272(17):11452-6.
PMID 9111057
 
Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients.
Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A, Chanson P.
J Clin Endocrinol Metab. 2012 Apr;97(4):E663-70. doi: 10.1210/jc.2011-2291. Epub 2012 Feb 8.
PMID 22319033
 
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.
Cazabat L, Libe R, Perlemoine K, Rene-Corail F, Burnichon N, Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P, Bertherat J, Raffin-Sanson ML.
Eur J Endocrinol. 2007 Jul;157(1):1-8.
PMID 17609395
 
Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA).
Chahal HS, Chapple JP, Frohman LA, Grossman AB, Korbonits M.
Trends Endocrinol Metab. 2010 Jul;21(7):419-27. doi: 10.1016/j.tem.2010.02.007. Epub 2010 Jun 1. (REVIEW)
PMID 20570174
 
AIP mutation in pituitary adenomas in the 18th century and today.
Chahal HS, Stals K, Unterlander M, Balding DJ, Thomas MG, Kumar AV, Besser GM, Atkinson AB, Morrison PJ, Howlett TA, Levy MJ, Orme SM, Akker SA, Abel RL, Grossman AB, Burger J, Ellard S, Korbonits M.
N Engl J Med. 2011 Jan 6;364(1):43-50. doi: 10.1056/NEJMoa1008020.
PMID 21208107
 
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.
Daly AF, Tichomirowa MA, Petrossians P, Heliovaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A, Cazabat L, De Menis E, Montanana CF, Raverot G, Weil RJ, Sane T, Maiter D, Neggers S, Yaneva M, Tabarin A, Verrua E, Eloranta E, Murat A, Vierimaa O, Salmela PI, Emy P, Toledo RA, Sabate MI, Villa C, Popelier M, Salvatori R, Jennings J, Longas AF, Labarta Aizpun JI, Georgitsi M, Paschke R, Ronchi C, Valimaki M, Saloranta C, De Herder W, Cozzi R, Guitelman M, Magri F, Lagonigro MS, Halaby G, Corman V, Hagelstein MT, Vanbellinghen JF, Barra GB, Gimenez-Roqueplo AP, Cameron FJ, Borson-Chazot F, Holdaway I, Toledo SP, Stalla GK, Spada A, Zacharieva S, Bertherat J, Brue T, Bours V, Chanson P, Aaltonen LA, Beckers A.
J Clin Endocrinol Metab. 2010 Nov;95(11):E373-83. doi: 10.1210/jc.2009-2556. Epub 2010 Aug 4.
PMID 20685857
 
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.
Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G, Raverot G, Barlier A, De Herder W, Penfornis A, Ciccarelli E, Estour B, Lecomte P, Gatta B, Chabre O, Sabate MI, Bertagna X, Garcia Basavilbaso N, Stalldecker G, Colao A, Ferolla P, Wemeau JL, Caron P, Sadoul JL, Oneto A, Archambeaud F, Calender A, Sinilnikova O, Montanana CF, Cavagnini F, Hana V, Solano A, Delettieres D, Luccio-Camelo DC, Basso A, Rohmer V, Brue T, Bours V, Teh BT, Beckers A.
J Clin Endocrinol Metab. 2007 May;92(5):1891-6. Epub 2007 Jan 23.
PMID 17244780
 
Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers.
Georgitsi M, Karhu A, Winqvist R, Visakorpi T, Waltering K, Vahteristo P, Launonen V, Aaltonen LA.
Br J Cancer. 2007 Jan 29;96(2):352-6.
PMID 17242703
 
The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomas.
Heliovaara E, Raitila A, Launonen V, Paetau A, Arola J, Lehtonen H, Sane T, Weil RJ, Vierimaa O, Salmela P, Tuppurainen K, Makinen M, Aaltonen LA, Karhu A.
Am J Pathol. 2009 Dec;175(6):2501-7. doi: 10.2353/ajpath.2009.081131. Epub 2009 Oct 22.
PMID 19850893
 
The aryl hydrocarbon (Ah) receptor transcriptional regulator hepatitis B virus X-associated protein 2 antagonizes p23 binding to Ah receptor-Hsp90 complexes and is dispensable for receptor function.
Hollingshead BD, Petrulis JR, Perdew GH.
J Biol Chem. 2004 Oct 29;279(44):45652-61. Epub 2004 Aug 20.
PMID 15322122
 
Developmental control of apoptosis by the immunophilin aryl hydrocarbon receptor-interacting protein (AIP) involves mitochondrial import of the survivin protein.
Kang BH, Xia F, Pop R, Dohi T, Socolovsky M, Altieri DC.
J Biol Chem. 2011 May 13;286(19):16758-67. doi: 10.1074/jbc.M110.210120. Epub 2011 Mar 18.
PMID 21454573
 
Low aryl hydrocarbon receptor-interacting protein expression is a better marker of invasiveness in somatotropinomas than Ki-67 and p53.
Kasuki Jomori de Pinho L, Vieira Neto L, Armondi Wildemberg LE, Gasparetto EL, Marcondes J, de Almeida Nunes B, Takiya CM, Gadelha MR.
Neuroendocrinology. 2011;94(1):39-48. doi: 10.1159/000322787. Epub 2010 Dec 18.
PMID 21178332
 
Evidence that the co-chaperone p23 regulates ligand responsiveness of the dioxin (Aryl hydrocarbon) receptor.
Kazlauskas A, Poellinger L, Pongratz I.
J Biol Chem. 1999 May 7;274(19):13519-24.
PMID 10224120
 
AIP-Related Familial Isolated Pituitary Adenomas.
Korbonits M, Kumar AV.
Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. Source, GeneReviewsTM [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2012 Jun 21.
PMID 22720333
 
XAP2, a novel hepatitis B virus X-associated protein that inhibits X transactivation.
Kuzhandaivelu N, Cong YS, Inouye C, Yang WM, Seto E.
Nucleic Acids Res. 1996 Dec 1;24(23):4741-50.
PMID 8972861
 
ARA9 modifies agonist signaling through an increase in cytosolic aryl hydrocarbon receptor.
LaPres JJ, Glover E, Dunham EE, Bunger MK, Bradfield CA.
J Biol Chem. 2000 Mar 3;275(9):6153-9.
PMID 10692406
 
The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas.
Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC, Jordan S, Rowe J, Stolbrink M, Christian HC, Wray J, Bishop-Bailey D, Berney DM, Wass JA, Popovic V, Ribeiro-Oliveira A Jr, Gadelha MR, Monson JP, Akker SA, Davis JR, Clayton RN, Yoshimoto K, Iwata T, Matsuno A, Eguchi K, Musat M, Flanagan D, Peters G, Bolger GB, Chapple JP, Frohman LA, Grossman AB, Korbonits M.
J Clin Endocrinol Metab. 2008 Jun;93(6):2390-401. doi: 10.1210/jc.2007-2611. Epub 2008 Apr 1.
PMID 18381572
 
Deletion of the aryl hydrocarbon receptor-associated protein 9 leads to cardiac malformation and embryonic lethality.
Lin BC, Sullivan R, Lee Y, Moran S, Glover E, Bradfield CA.
J Biol Chem. 2007 Dec 7;282(49):35924-32. Epub 2007 Oct 4.
PMID 17916558
 
Characterization of the AhR-hsp90-XAP2 core complex and the role of the immunophilin-related protein XAP2 in AhR stabilization.
Meyer BK, Perdew GH.
Biochemistry. 1999 Jul 13;38(28):8907-17.
PMID 10413464
 
Hepatitis B virus X-associated protein 2 is a subunit of the unliganded aryl hydrocarbon receptor core complex and exhibits transcriptional enhancer activity.
Meyer BK, Pray-Grant MG, Vanden Heuvel JP, Perdew GH.
Mol Cell Biol. 1998 Feb;18(2):978-88.
PMID 9447995
 
The aryl hydrocarbon receptor-interacting protein (AIP) is required for dioxin-induced hepatotoxicity but not for the induction of the Cyp1a1 and Cyp1a2 genes.
Nukaya M, Lin BC, Glover E, Moran SM, Kennedy GD, Bradfield CA.
J Biol Chem. 2010 Nov 12;285(46):35599-605. doi: 10.1074/jbc.M110.132043. Epub 2010 Sep 9.
PMID 20829355
 
AIP gene and familial isolated pituitary adenomas.
Ozfirat Z, Korbonits M.
Mol Cell Endocrinol. 2010 Sep 15;326(1-2):71-9. doi: 10.1016/j.mce.2010.05.001. Epub 2010 May 8. (REVIEW)
PMID 20457215
 
Association of the Ah receptor with the 90-kDa heat shock protein.
Perdew GH.
J Biol Chem. 1988 Sep 25;263(27):13802-5.
PMID 2843537
 
Role of endogenous XAP2 protein on the localization and nucleocytoplasmic shuttling of the endogenous mouse Ahb-1 receptor in the presence and absence of ligand.
Pollenz RS, Wilson SE, Dougherty EJ.
Mol Pharmacol. 2006 Oct;70(4):1369-79. Epub 2006 Jul 11.
PMID 16835354
 
No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia.
Raitila A, Georgitsi M, Karhu A, Tuppurainen K, Makinen MJ, Birkenkamp-Demtroder K, Salmenkivi K, Orntoft TF, Arola J, Launonen V, Vahteristo P, Aaltonen LA.
Endocr Relat Cancer. 2007 Sep;14(3):901-6.
PMID 17914118
 
Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression.
Raitila A, Lehtonen HJ, Arola J, Heliovaara E, Ahlsten M, Georgitsi M, Jalanko A, Paetau A, Aaltonen LA, Karhu A.
Am J Pathol. 2010 Oct;177(4):1969-76. doi: 10.2353/ajpath.2010.100138. Epub 2010 Aug 13.
PMID 20709796
 
High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas.
Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, Urban JD, Petrossians P, Elenkova A, Tabarin A, Desailloud R, Maiter D, Schurmeyer T, Cozzi R, Theodoropoulou M, Sievers C, Bernabeu I, Naves LA, Chabre O, Montanana CF, Hana V, Halaby G, Delemer B, Aizpun JI, Sonnet E, Longas AF, Hagelstein MT, Caron P, Stalla GK, Bours V, Zacharieva S, Spada A, Brue T, Beckers A.
Eur J Endocrinol. 2011 Oct;165(4):509-15. doi: 10.1530/EJE-11-0304. Epub 2011 Jul 13.
PMID 21753072
 
AIP and its interacting partners.
Trivellin G, Korbonits M.
J Endocrinol. 2011 Aug;210(2):137-55. doi: 10.1530/JOE-11-0054. Epub 2011 Mar 31. (REVIEW)
PMID 21454441
 
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 TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A, Aaltonen LA.
Science. 2006 May 26;312(5777):1228-30.
PMID 16728643
 

7. Citation

This paper should be referenced as such :
Barry, S ; Korbonits, M
AIP (aryl hydrocarbon receptor interacting protein)
Atlas Genet Cytogenet Oncol Haematol. 2013;17(5):297-300.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Genes/AIPID604ch11q13.html

8. External links

Nomenclature
HGNC (Hugo)AIP   358
LRG (Locus Reference Genomic)LRG_460
Cards
AtlasAIPID604ch11q13
Entrez_Gene (NCBI)AIP  9049  aryl hydrocarbon receptor interacting protein
AliasesARA9; FKBP16; FKBP37; PITA1; 
SMTPHN; XAP-2; XAP2
GeneCards (Weizmann)AIP
Ensembl hg19 (Hinxton)ENSG00000110711 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110711 [Gene_View] &nbspENSG00000110711 [Sequence]  chr11:67483029-67491108 [Contig_View]  AIP [Vega]
ICGC DataPortalENSG00000110711
TCGA cBioPortalAIP
AceView (NCBI)AIP
Genatlas (Paris)AIP
WikiGenes9049
SOURCE (Princeton)AIP
Genetics Home Reference (NIH)AIP
Genomic and cartography
GoldenPath hg38 (UCSC)AIP  -     chr11:67483029-67491108 +  11q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AIP  -     11q13.2   [Description]    (hg19-Feb_2009)
EnsemblAIP - 11q13.2 [CytoView hg19]  AIP - 11q13.2 [CytoView hg38]
Mapping of homologs : NCBIAIP [Mapview hg19]  AIP [Mapview hg38]
OMIM102000   102200   219090   605555   
Gene and transcription
Genbank (Entrez)BC104797 BC104827 BG821308 BQ054206 BQ420398
RefSeq transcript (Entrez)NM_001302959 NM_001302960 NM_003977
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AIP
Cluster EST : UnigeneHs.412433 [ NCBI ]
CGAP (NCI)Hs.412433
Alternative Splicing GalleryENSG00000110711
Gene ExpressionAIP [ NCBI-GEO ]   AIP [ EBI - ARRAY_EXPRESS ]   AIP [ SEEK ]   AIP [ MEM ]
Gene Expression Viewer (FireBrowse)AIP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)9049
GTEX Portal (Tissue expression)AIP
Human Protein AtlasENSG00000110711-AIP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00170   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00170  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00170
Splice isoforms : SwissVarO00170
PhosPhoSitePlusO00170
Domaine pattern : Prosite (Expaxy)FKBP_PPIASE (PS50059)    TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)AIP    PPIase_FKBP_dom    TPR-contain_dom    TPR-like_helical_dom_sf    TPR_repeat   
Domain families : Pfam (Sanger)FKBP_C (PF00254)   
Domain families : Pfam (NCBI)pfam00254   
Conserved Domain (NCBI)AIP
DMDM Disease mutations9049
Blocks (Seattle)AIP
PDB (RSDB)2LKN    4AIF    4APO   
PDB Europe2LKN    4AIF    4APO   
PDB (PDBSum)2LKN    4AIF    4APO   
PDB (IMB)2LKN    4AIF    4APO   
Structural Biology KnowledgeBase2LKN    4AIF    4APO   
SCOP (Structural Classification of Proteins)2LKN    4AIF    4APO   
CATH (Classification of proteins structures)2LKN    4AIF    4APO   
SuperfamilyO00170
Human Protein Atlas [tissue]ENSG00000110711-AIP [tissue]
Peptide AtlasO00170
HPRD10408
IPIIPI00939349   IPI00010460   IPI00925804   IPI00953925   IPI01011438   IPI00985244   
Protein Interaction databases
DIP (DOE-UCLA)O00170
IntAct (EBI)O00170
FunCoupENSG00000110711
BioGRIDAIP
STRING (EMBL)AIP
ZODIACAIP
Ontologies - Pathways
QuickGOO00170
Ontology : AmiGOtranscription coactivator activity  protein binding  nucleoplasm  cytoplasm  cytosol  cytosol  plasma membrane  protein targeting to mitochondrion  xenobiotic metabolic process  transcription factor binding  regulation of protein kinase A signaling  aryl hydrocarbon receptor binding  protein maturation by protein folding  aryl hydrocarbon receptor complex  interleukin-12-mediated signaling pathway  GAF domain binding  unfolded protein binding  negative regulation of cyclic-nucleotide phosphodiesterase activity  positive regulation of nucleic acid-templated transcription  
Ontology : EGO-EBItranscription coactivator activity  protein binding  nucleoplasm  cytoplasm  cytosol  cytosol  plasma membrane  protein targeting to mitochondrion  xenobiotic metabolic process  transcription factor binding  regulation of protein kinase A signaling  aryl hydrocarbon receptor binding  protein maturation by protein folding  aryl hydrocarbon receptor complex  interleukin-12-mediated signaling pathway  GAF domain binding  unfolded protein binding  negative regulation of cyclic-nucleotide phosphodiesterase activity  positive regulation of nucleic acid-templated transcription  
REACTOMEO00170 [protein]
REACTOME PathwaysR-HSA-8950505 [pathway]   
NDEx NetworkAIP
Atlas of Cancer Signalling NetworkAIP
Wikipedia pathwaysAIP
Orthology - Evolution
OrthoDB9049
GeneTree (enSembl)ENSG00000110711
Phylogenetic Trees/Animal Genes : TreeFamAIP
HOGENOMO00170
Homologs : HomoloGeneAIP
Homology/Alignments : Family Browser (UCSC)AIP
Gene fusions - Rearrangements
Fusion : QuiverAIP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAIP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AIP
dbVarAIP
ClinVarAIP
1000_GenomesAIP 
Exome Variant ServerAIP
ExAC (Exome Aggregation Consortium)ENSG00000110711
GNOMAD BrowserENSG00000110711
Varsome BrowserAIP
Genetic variants : HAPMAP9049
Genomic Variants (DGV)AIP [DGVbeta]
DECIPHERAIP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAIP 
Mutations
ICGC Data PortalAIP 
TCGA Data PortalAIP 
Broad Tumor PortalAIP
OASIS PortalAIP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAIP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAIP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AIP
DgiDB (Drug Gene Interaction Database)AIP
DoCM (Curated mutations)AIP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AIP (select a term)
intoGenAIP
NCG5 (London)AIP
Cancer3DAIP(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102000    102200    219090    605555   
Orphanet408    3387    21528    21529    21530   
DisGeNETAIP
MedgenAIP
Genetic Testing Registry AIP
NextProtO00170 [Medical]
TSGene9049
GENETestsAIP
Target ValidationAIP
Huge Navigator AIP [HugePedia]
snp3D : Map Gene to Disease9049
BioCentury BCIQAIP
ClinGenAIP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9049
Chemical/Pharm GKB GenePA24652
Clinical trialAIP
Miscellaneous
canSAR (ICR)AIP (select the gene name)
DataMed IndexAIP
Probes
Litterature
PubMed136 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAIP
EVEXAIP
GoPubMedAIP
iHOPAIP
REVIEW articlesautomatic search in PubMed
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