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Aliases for AIP Gene

Aliases for AIP Gene

  • Aryl Hydrocarbon Receptor Interacting Protein 2 3 5
  • HBV X-Associated Protein 2 3 4
  • Immunophilin Homolog ARA9 3 4
  • XAP-2 3 4
  • XAP2 3 4
  • Aryl Hydrocarbon Receptor-Interacting Protein 2
  • Aryl-Hydrocarbon Receptor-Interacting Protein 4
  • AH Receptor-Interacting Protein 3
  • FKBP16 3
  • FKBP37 3
  • SMTPHN 3
  • PITA1 3
  • ARA9 3

External Ids for AIP Gene

Previous GeneCards Identifiers for AIP Gene

  • GC11P069773
  • GC11P068946
  • GC11P067500
  • GC11P067026
  • GC11P067027
  • GC11P067007
  • GC11P067251
  • GC11P063579

Summaries for AIP Gene

Entrez Gene Summary for AIP Gene

  • 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]

GeneCards Summary for AIP Gene

AIP (Aryl Hydrocarbon Receptor Interacting Protein) is a Protein Coding gene. Diseases associated with AIP include Pituitary Adenoma 1, Multiple Types and Acroleukopathy, Symmetric. Among its related pathways are Aryl Hydrocarbon Receptor and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include transcription factor binding and transcription coactivator activity. An important paralog of this gene is AIPL1.

UniProtKB/Swiss-Prot for AIP Gene

  • 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.

Gene Wiki entry for AIP Gene

Additional gene information for AIP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AIP Gene

Genomics for AIP Gene

GeneHancer (GH) Regulatory Elements for AIP Gene

Promoters and enhancers for AIP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I067482 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 552.1 +2.3 2338 6.3 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 AIP GC11P067486 PTPRCAP RBM4B KMT5B RBM14 BBS1 CARNS1 ENSG00000258297 RBM4
GH11I067560 Enhancer 1.3 Ensembl ENCODE dbSUPER 17.1 +79.9 79855 3.9 PKNOX1 ATF1 IRF4 YY1 ZNF766 ZNF207 ATF7 FOS RUNX3 DEK PTPRCAP AIP KMT5B NDUFV1 ENSG00000258297 PPP6R3 RBM14 CABP2 C11orf72 ENSG00000255119
GH11I067572 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.5 +90.0 89981 1.4 HDGF PKNOX1 ATF1 FOXA2 ARNT ARID4B ZNF2 TCF12 ZNF143 FOS NDUFV1 RBM14 RBM4B ENSG00000255119 C11orf72 DOC2GP NUDT8 TBX10 KDM2A PPP6R3
GH11I067401 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 4.6 -76.8 -76798 12 HDGF SMAD1 ZFP64 ARID4B SIN3A IRF4 YY1 POLR2B ZNF207 ZNF143 TBC1D10C PPP1CA SSH3 PTPRCAP CARNS1 RAD9A AIP
GH11I067535 Enhancer 0.2 ENCODE 11.1 +52.6 52646 0.1 AIP ENSG00000283257 CABP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AIP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AIP gene promoter:

Genomic Locations for AIP Gene

Genomic Locations for AIP Gene
chr11:67,483,029-67,491,108
(GRCh38/hg38)
Size:
8,080 bases
Orientation:
Plus strand
chr11:67,250,505-67,258,579
(GRCh37/hg19)

Genomic View for AIP Gene

Genes around AIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIP Gene

Proteins for AIP Gene

  • Protein details for AIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00170-AIP_HUMAN
    Recommended name:
    AH receptor-interacting protein
    Protein Accession:
    O00170
    Secondary Accessions:
    • A0SZW3
    • A0SZW4
    • A0SZW5
    • A0SZW6
    • Q2M3Q2
    • Q99606

    Protein attributes for AIP Gene

    Size:
    330 amino acids
    Molecular mass:
    37636 Da
    Quaternary structure:
    • Interacts with RET in the pituitary gland; this interaction prevents the formation of the AIP-survivin complex.

    Three dimensional structures from OCA and Proteopedia for AIP Gene

neXtProt entry for AIP Gene

Post-translational modifications for AIP Gene

  • Ubiquitination at posLast=3333, posLast=6969, posLast=103103, Lys112, Lys177, Lys210, Lys273, and Lys290

Other Protein References for AIP Gene

No data available for DME Specific Peptides for AIP Gene

Domains & Families for AIP Gene

Gene Families for AIP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AIP: view

No data available for UniProtKB/Swiss-Prot for AIP Gene

Function for AIP Gene

Molecular function for AIP Gene

GENATLAS Biochemistry:
arylhydrocarbon receptor associated protein,immunophilin homolog,interacting with HSP90-AHR complex,homologous to the 52kDa,FK506 binding protein (FKBP52)
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
Cellular negative regulator of the hepatitis B virus (HBV) X protein.

Gene Ontology (GO) - Molecular Function for AIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003712 transcription cofactor activity IEA --
GO:0003713 transcription coactivator activity TAS 9447995
GO:0003755 peptidyl-prolyl cis-trans isomerase activity IEA --
GO:0004871 signal transducer activity TAS 9111057
GO:0005515 protein binding IPI 14557246
genes like me logo Genes that share ontologies with AIP: view
genes like me logo Genes that share phenotypes with AIP: view

Human Phenotype Ontology for AIP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AIP Gene

MGI Knock Outs for AIP:

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for AIP Gene

Localization for AIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for AIP Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AIP gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 8972861
GO:0005829 cytosol IEA,TAS 14557246
GO:0005886 colocalizes_with plasma membrane IDA 17329248
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AIP: view

Pathways & Interactions for AIP Gene

genes like me logo Genes that share pathways with AIP: view

Pathways by source for AIP Gene

Gene Ontology (GO) - Biological Process for AIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion IDA 14557246
GO:0006805 xenobiotic metabolic process TAS,IEA --
GO:0010738 regulation of protein kinase A signaling IEA --
GO:0022417 protein maturation by protein folding IDA 14557246
GO:0035722 interleukin-12-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with AIP: view

No data available for SIGNOR curated interactions for AIP Gene

Drugs & Compounds for AIP Gene

(1) Drugs for AIP Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aminolevulinic acid Approved Pharma 170
genes like me logo Genes that share compounds with AIP: view

Transcripts for AIP Gene

Unigene Clusters for AIP Gene

Aryl hydrocarbon receptor interacting protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AIP Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7
SP1: -
SP2: -
SP3:
SP4: - -
SP5: - - - -

Relevant External Links for AIP Gene

GeneLoc Exon Structure for
AIP
ECgene alternative splicing isoforms for
AIP

Expression for AIP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AIP Gene

Protein differential expression in normal tissues from HIPED for AIP Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.3), Tlymphocyte (9.3), and Lymph node (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AIP Gene



Protein tissue co-expression partners for AIP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of AIP Gene:

AIP

SOURCE GeneReport for Unigene cluster for AIP Gene:

Hs.412433

mRNA Expression by UniProt/SwissProt for AIP Gene:

O00170-AIP_HUMAN
Tissue specificity: Widely expressed. Higher levels seen in the heart, placenta and skeletal muscle. Not expressed in the liver.

Evidence on tissue expression from TISSUES for AIP Gene

  • Nervous system(4.8)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AIP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • ureter
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with AIP: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AIP Gene

Orthologs for AIP Gene

This gene was present in the common ancestor of animals.

Orthologs for AIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIP 33 34
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia AIP 33 34
  • 90.81 (n)
cow
(Bos Taurus)
Mammalia AIP 33 34
  • 90.51 (n)
rat
(Rattus norvegicus)
Mammalia Aip 33
  • 88.89 (n)
mouse
(Mus musculus)
Mammalia Aip 33 16 34
  • 88.59 (n)
oppossum
(Monodelphis domestica)
Mammalia AIP 34
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 40 (a)
ManyToMany
chicken
(Gallus gallus)
Aves AIP 33 34
  • 80.04 (n)
lizard
(Anolis carolinensis)
Reptilia AIP 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aip 33
  • 62.97 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8054 33
zebrafish
(Danio rerio)
Actinopterygii LOC100149392 33
  • 64.23 (n)
aip 34
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000725 33
  • 59.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1847 35 33 34
  • 51.88 (n)
worm
(Caenorhabditis elegans)
Secernentea C56C10.10 35 33 34
  • 44.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2723 34
  • 43 (a)
OneToMany
Species where no ortholog for AIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AIP Gene

ENSEMBL:
Gene Tree for AIP (if available)
TreeFam:
Gene Tree for AIP (if available)

Paralogs for AIP Gene

Variants for AIP Gene

Sequence variations from dbSNP and Humsavar for AIP Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs104894190 pathogenic, likely-benign, uncertain-significance, Pituitary dependent hypercortisolism, Familial Isolated Pituitary Adenomas, not specified, Somatotroph adenoma, Hereditary cancer-predisposing syndrome 67,490,911(+) G/A 3_prime_UTR_variant, coding_sequence_variant, missense_variant
rs104894194 pathogenic, Pituitary adenoma predisposition, Somatotroph adenoma 67,483,198(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, stop_gained, upstream_transcript_variant
rs104894195 pathogenic, Somatotroph adenoma 67,490,910(+) C/G/T 3_prime_UTR_variant, coding_sequence_variant, missense_variant, stop_gained
rs104895072 likely-pathogenic, Somatotroph adenoma 67,487,155(+) G/T coding_sequence_variant, synonymous_variant
rs104895073 likely-pathogenic, Somatotroph adenoma 67,490,059(+) C/T coding_sequence_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for AIP Gene

Variant ID Type Subtype PubMed ID
dgv1977n54 CNV loss 21841781
dgv52n111 CNV deletion 26073780
esv2422195 CNV duplication 17116639
nsv368 CNV insertion 18451855
nsv468604 CNV loss 19166990
nsv521723 CNV loss 19592680
nsv527056 CNV loss 19592680
nsv825960 CNV gain 20364138

Variation tolerance for AIP Gene

Residual Variation Intolerance Score: 73.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AIP Gene

Human Gene Mutation Database (HGMD)
AIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIP Gene

Disorders for AIP Gene

MalaCards: The human disease database

(22) MalaCards diseases for AIP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pituitary adenoma 1, multiple types
  • pita1
acroleukopathy, symmetric
  • pituitary adenoma predisposition
familial isolated pituitary adenoma
  • fipa
growth hormone secreting pituitary adenoma
  • growth hormone producing adenoma of the pituitary
acromegaly
  • somatotroph adenoma
- elite association - COSMIC cancer census association via MalaCards
Search AIP in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AIP_HUMAN
  • Pituitary adenoma 1, multiple types (PITA1) [MIM:102200]: A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid- stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. {ECO:0000269 PubMed:16728643, ECO:0000269 PubMed:17244780, ECO:0000269 PubMed:17299063, ECO:0000269 PubMed:17341560, ECO:0000269 PubMed:17360484, ECO:0000269 PubMed:18410548}. 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. {ECO:0000269 PubMed:16728643, ECO:0000305 PubMed:17244780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AIP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AIP: view

No data available for Genatlas for AIP Gene

Publications for AIP Gene

  1. XAP2, a novel hepatitis B virus X-associated protein that inhibits X transactivation. (PMID: 8972861) Kuzhandaivelu N … Seto E (Nucleic acids research 1996) 2 3 4 22 58
  2. The tyrosine kinase receptor RET interacts in vivo with aryl hydrocarbon receptor-interacting protein to alter survivin availability. (PMID: 19366855) Vargiolu M … Bonora E (The Journal of clinical endocrinology and metabolism 2009) 3 4 22 58
  3. Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations. (PMID: 18710468) Igreja S … Korbonits M (Clinical endocrinology 2009) 3 22 44 58
  4. Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. (PMID: 19474519) Vierimaa O … Salmela PI (Journal of endocrinological investigation 2009) 3 22 44 58
  5. Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer. (PMID: 19794292) Raitila A … Karhu A (Journal of endocrinological investigation 2009) 3 22 44 58

Products for AIP Gene

  • Addgene plasmids for AIP

Sources for AIP Gene

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