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    AIP aryl hydrocarbon receptor interacting protein [ Homo sapiens (human) ]

    Gene ID: 9049, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AIPprovided by HGNC
    Official Full Name
    aryl hydrocarbon receptor interacting proteinprovided by HGNC
    Primary source
    HGNC:HGNC:358
    See related
    Ensembl:ENSG00000110711 MIM:605555; AllianceGenome:HGNC:358
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARA9; XAP2; PITA1; XAP-2; FKBP16; FKBP37; SMTPHN
    Summary
    The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in lymph node (RPKM 29.1), spleen (RPKM 26.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AIP in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67483026..67491103)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67462305..67485230)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67250497..67258574)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 152 Neighboring gene calcium binding protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5103 Neighboring gene transmembrane protein 134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:67236334-67236958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5104 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:67244852-67245402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67253051-67254024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5108 Neighboring gene microRNA 6752 Neighboring gene phosphatidylinositol transfer protein membrane associated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67270543-67271292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67271293-67272042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3641 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3642 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3643 Neighboring gene cyclin dependent kinase 2 associated protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Hyperplasia-adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation. Villa C, et al. Endocr Relat Cancer, 2011 Jun. PMID 21450940
    2. Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations. Hernández-Ramírez LC, et al. J Clin Endocrinol Metab, 2016 Aug. PMID 27253664, Free PMC Article
    3. Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. Cazabat L, et al. J Clin Endocrinol Metab, 2012 Apr. PMID 22319033
    4. Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland. Radian S, et al. Hum Mutat, 2017 Jan. PMID 27650164, Free PMC Article
    5. A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred. Cansu GB, et al. Hormones (Athens), 2016 Jul. PMID 27838609, Free PMC Article

    See all (198) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Germline AIP variants in sporadic young acromegaly and pituitary gigantism: clinical and genetic insights from a Han Chinese cohort.
      Title: Germline AIP variants in sporadic young acromegaly and pituitary gigantism: clinical and genetic insights from a Han Chinese cohort.
    2. The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene.
      Title: The clinical and therapeutic profiles of prolactinomas associated with germline pathogenic variants in the aryl hydrocarbon receptor interacting protein (AIP) gene.
    3. Novel AIP mutation in exon 6 causing acromegaly in a German family.
      Title: Novel AIP mutation in exon 6 causing acromegaly in a German family.
    4. AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas.
      Title: AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas.
    5. Functions of the Hsp90-Binding FKBP Immunophilins.
      Title: Functions of the Hsp90-Binding FKBP Immunophilins.
    6. Transcription factor GTF2B regulates AIP protein expression in growth hormone-secreting pituitary adenomas and influences tumor phenotypes.
      Title: Transcription factor GTF2B regulates AIP protein expression in growth hormone-secreting pituitary adenomas and influences tumor phenotypes.
    7. RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas.
      Title: RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas.
    8. Aryl hydrocarbon receptor interacting protein (AIP) significantly influences prognosis of pancreatic carcinoma.
      Title: Aryl hydrocarbon receptor interacting protein (AIP) significantly influences prognosis of pancreatic carcinoma.
    9. Prognostic Role of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Immunohistochemical Expression in Patients with Resected Gastric Carcinomas.
      Title: Prognostic Role of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Immunohistochemical Expression in Patients with Resected Gastric Carcinomas.
    10. AIP protected BCL6 from ubiquitin-mediated proteasomal degradation by FBXO11 by binding to UCHL1.
      Title: Aryl Hydrocarbon Receptor Interacting Protein Maintains Germinal Center B Cells through Suppression of BCL6 Degradation.
    Submit: New GeneRIF Correction See all GeneRIFs (100)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Pituitary dependent hypercortisolism
    MedGen: C0221406 OMIM: 219090 GeneReviews: Not available
    		Compare labs
    Somatotroph adenoma
    MedGen: C4538355 OMIM: 102200 GeneReviews: AIP Familial Isolated Pituitary Adenomas
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GAF domain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables aryl hydrocarbon receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidyl-prolyl cis-trans isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables unfolded protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein maturation by protein folding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein targeting to mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of protein kinase A signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in xenobiotic metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of aryl hydrocarbon receptor complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    colocalizes_with plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    AH receptor-interacting protein
    Names
    Ah receptor activated 9
    FK506-binding protein 37
    FKBP prolyl isomerase 16
    HBV X-associated protein 2
    X-associated protein-2
    aryl hydrocarbon receptor-associated protein 9
    hepatitis B virus X-associated cellular protein 2
    immunophilin homolog ARA9
    NP_001289888.1
    NP_001289889.1
    NP_003968.3
    XP_054226424.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008969.1 RefSeqGene

      Range
      4996..13075
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_460

    mRNA and Protein(s)

    1. NM_001302959.2 → NP_001289888.1  AH receptor-interacting protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in place of the first exon in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      BQ054206, U31913, U78521
      Consensus CDS
      CCDS91516.1
      UniProtKB/TrEMBL
      A0A804HKK3, A0A804HKL7
      Related
      ENSP00000507979.1, ENST00000683856.1
      Conserved Domains (1) summary
      sd00006
      Location:124 → 166
      TPR; TPR repeat [structural motif]

    2. NM_001302960.2 → NP_001289889.1  AH receptor-interacting protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction in the 3' end of the coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AP003419, BQ420398, HY065637, U31913, U78521
      Consensus CDS
      CCDS91515.1
      UniProtKB/TrEMBL
      A0A804HIX8, A0A804HJ38
      Related
      ENSP00000507343.1, ENST00000683237.1
      Conserved Domains (1) summary
      cl19519
      Location:29 → 90
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    3. NM_003977.4 → NP_003968.3  AH receptor-interacting protein isoform 1

      See identical proteins and their annotated locations for NP_003968.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AP003419, HY065637, U31913, U78521
      Consensus CDS
      CCDS8168.1
      UniProtKB/Swiss-Prot
      A0SZW3, A0SZW4, A0SZW5, A0SZW6, G9I2H4, O00170, Q2M3Q2, Q99606
      UniProtKB/TrEMBL
      C0JXB9, C8CHN4, C8CK04, C8CK05, D0EKE4, D0EKE6, D5LTB3
      Related
      ENSP00000279146.3, ENST00000279146.8
      Conserved Domains (2) summary
      sd00006
      Location:183 → 225
      TPR; TPR repeat [structural motif]
      cl19519
      Location:29 → 90
      FKBP_C; FKBP-type peptidyl-prolyl cis-trans isomerase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      67483026..67491103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      67462305..67485230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370449.1 → XP_054226424.1  AH receptor-interacting protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00170.3 GenPept UniProtKB/Swiss-Prot:O00170

    Gene LinkOut

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