AHR
Aryl hydrocarbon receptor
Also known as: AHR_HUMAN, bHLHe76
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P35869
- Gene
- AHR
- Ensembl
- ENSG00000106546
- Chromosome
- 7
- Canonical length
- 848 aa
- Protein class
- Cancer-related genes, Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]
Canonical amino-acid sequenceUniProt
848 residues, UniProt reviewed canonical sequence.
>P35869|AHR
1 MNSSSANITY ASRKRRKPVQ KTVKPIPAEG IKSNPSKRHR DRLNTELDRL ASLLPFPQDV
61 INKLDKLSVL RLSVSYLRAK SFFDVALKSS PTERNGGQDN CRAANFREGL NLQEGEFLLQ
121 ALNGFVLVVT TDALVFYASS TIQDYLGFQQ SDVIHQSVYE LIHTEDRAEF QRQLHWALNP
181 SQCTESGQGI EEATGLPQTV VCYNPDQIPP ENSPLMERCF ICRLRCLLDN SSGFLAMNFQ
241 GKLKYLHGQK KKGKDGSILP PQLALFAIAT PLQPPSILEI RTKNFIFRTK HKLDFTPIGC
301 DAKGRIVLGY TEAELCTRGS GYQFIHAADM LYCAESHIRM IKTGESGMIV FRLLTKNNRW
361 TWVQSNARLL YKNGRPDYII VTQRPLTDEE GTEHLRKRNT KLPFMFTTGE AVLYEATNPF
421 PAIMDPLPLR TKNGTSGKDS ATTSTLSKDS LNPSSLLAAM MQQDESIYLY PASSTSSTAP
481 FENNFFNESM NECRNWQDNT APMGNDTILK HEQIDQPQDV NSFAGGHPGL FQDSKNSDLY
541 SIMKNLGIDF EDIRHMQNEK FFRNDFSGEV DFRDIDLTDE ILTYVQDSLS KSPFIPSDYQ
601 QQQSLALNSS CMVQEHLHLE QQQQHHQKQV VVEPQQQLCQ KMKHMQVNGM FENWNSNQFV
661 PFNCPQQDPQ QYNVFTDLHG ISQEFPYKSE MDSMPYTQNF ISCNQPVLPQ HSKCTELDYP
721 MGSFEPSPYP TTSSLEDFVT CLQLPENQKH GLNPQSAIIT PQTCYAGAVS MYQCQPEPQH
781 THVGQMQYNP VLPGQQAFLN KFQNGVLNET YPAELNNINN TQTTTHLQPL HHPSEARPFP
841 DLTSSGFLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against AHR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 46 nTPM
Expression across tissuesHPA
Tissue
- urinary bladder: 46 nTPM
- liver: 42 nTPM
- bone marrow: 42 nTPM
- lung: 36 nTPM
- gallbladder: 32 nTPM
- appendix: 24 nTPM
Single-cell type
- papillary tip epithelial cells: 225 nCPM
- epicardial cells: 171 nCPM
- retinal bipolar cells: 120 nCPM
- respiratory deuterosomal cells: 107 nCPM
- mesothelial cells: 104 nCPM
- urothelial cells: 94 nCPM
Immune cell
- myeloid DC: 6.8 nTPM
- classical monocyte: 5.5 nTPM
- eosinophil: 4.1 nTPM
- intermediate monocyte: 2.5 nTPM
- NK-cell: 2.1 nTPM
- T-reg: 2.1 nTPM
Brain region
- medulla oblongata: 16 nTPM
- white matter: 16 nTPM
- thalamus: 11 nTPM
- spinal cord: 10 nTPM
- cerebral cortex: 10 nTPM
- basal ganglia: 9.6 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about AHR.
Disease | AllUniProt
Conditions AHR is implicated in, by any mechanism.
- Retinitis pigmentosa 85 (RP85) MIM:618345
- Foveal hypoplasia 3 (FVH3) MIM:620958
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 529 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Foveal hypoplasia 3
- Retinitis pigmentosa 85
- Infantile nystagmus with foveal hypoplasia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.15
- gnomAD pLI
- 1
- gnomAD missense Z
- 0.73
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- blood vessel development
- cellular response to 2,3,7,8-tetrachlorodibenzodioxine
- cellular response to cAMP
- cellular response to forskolin
- cellular response to molecule of bacterial origin
- circadian regulation of gene expression
- negative regulation of DNA-templated transcription
- negative regulation of inflammatory response
- negative regulation of T cell mediated immune response to tumor cell
- positive regulation of DNA-templated transcription
- positive regulation of transcription by RNA polymerase II
- regulation of adaptive immune response
- regulation of B cell proliferation
- regulation of DNA-templated transcription
- regulation of gene expression
- regulation of transcription by RNA polymerase II
- response to toxic substance
- response to xenobiotic stimulus
- xenobiotic metabolic process
Molecular functions
- cis-regulatory region sequence-specific DNA binding
- DNA binding
- DNA-binding transcription factor activity
- DNA-binding transcription factor activity, RNA polymerase II-specific
- E-box binding
- Hsp90 protein binding
- nuclear receptor activity
- protein heterodimerization activity
- protein homodimerization activity
- RNA polymerase II-specific DNA-binding transcription factor binding
- sequence-specific double-stranded DNA binding
- TBP-class protein binding
- TFIID-class transcription factor complex binding
- transcription cis-regulatory region binding
- transcription coactivator binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- PAS domain
- PAC motif
- Myc-type, basic helix-loop-helix (bHLH) domain
- PAS fold 3
- PAS fold
- PAS domain superfamily
- Helix-loop-helix DNA-binding domain superfamily
- Aryl hydrocarbon receptor/Aryl hydrocarbon receptor repressor
- Helix-loop-helix DNA-binding domain
- PAS fold
- PAS fold
- Aryl hydrocarbon receptor, basic helix-loop-helix domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of AHR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads AHR as an antibody target. Whether an autoantibody or antibody against AHR could matter depends on whether native AHR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
AHR is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label AHR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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