Format

Send to:

Choose Destination

AHRR aryl-hydrocarbon receptor repressor [ Homo sapiens (human) ]

Gene ID: 57491, updated on 3-Jun-2018
Official Symbol
AHRRprovided by HGNC
Official Full Name
aryl-hydrocarbon receptor repressorprovided by HGNC
Primary source
HGNC:HGNC:346
See related
Ensembl:ENSG00000063438 MIM:606517; Vega:OTTHUMG00000162171
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
AHH; AHHR; bHLHe77
Summary
The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]
Expression
Broad expression in testis (RPKM 4.1), spleen (RPKM 2.9) and 21 other tissues See more
Orthologs
See AHRR in Genome Data Viewer
Location:
5p15.33
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (304176..438291)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (304291..438406)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase 4 regulatory subunit 2 pseudogene Neighboring gene heart tissue-associated transcript 5 Neighboring gene programmed cell death 6 Neighboring gene mitochondrial translational initiation factor 3 pseudogene Neighboring gene AHRR intron CAGE-defined high expression enhancer Neighboring gene EXOC3 antisense RNA 1 Neighboring gene exocyst complex component 3

  • Project title: 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
NHGRI GWA Catalog
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
NHGRI GWA Catalog
  • Aryl Hydrocarbon Receptor, organism-specific biosystem (from WikiPathways)
    Aryl Hydrocarbon Receptor, organism-specific biosystemThe Aryl Hydrocarbon receptor (AhR) is ligand activated transcription factor that regulates wide spectrum of gene expression. The main mediator of AhR is 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) or...
  • Aryl Hydrocarbon Receptor Pathway, organism-specific biosystem (from WikiPathways)
    Aryl Hydrocarbon Receptor Pathway, organism-specific biosystemThe aryl hydrocarbon receptor (AhR) is a transcription factor (part of the group of nuclear receptors) that responds to the presence of aromatic hydrocarbons. It regulates genes involved xenobiotic m...
  • Aryl hydrocarbon receptor signalling, organism-specific biosystem (from REACTOME)
    Aryl hydrocarbon receptor signalling, organism-specific biosystemThe aryl hydrocarbon receptor (AHR) is a ligand-activated transcription factor that belongs to the basic helix-loop-helix/PER-ARNT-SIM family of DNA binding proteins and controls the expression of a ...
  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
    Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
    PPARA activates gene expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
  • Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
    Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
  • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
    Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: PDCD6

Homology

Clone Names

  • KIAA1234, MGC167813, MGC176630

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcriptional repressor activity, RNA polymerase II transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to xenobiotic stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
aryl hydrocarbon receptor repressor
Names
ahR repressor
aryl hydrocarbon hydroxylase regulator
class E basic helix-loop-helix protein 77
dioxin receptor repressor

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_029834.1 RefSeqGene

    Range
    5001..139116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001242412.1NP_001229341.1  aryl hydrocarbon receptor repressor isoform 2

    See identical proteins and their annotated locations for NP_001229341.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as AHRRdelta8) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2) missing an 18 aa internal protein segment compared to isoform 1. PMID:19380484 reports that this isoform is the predominant form expressed in human tissues and cell lines, and is more active than the longer isoform.
    Source sequence(s)
    AC010442, AK314472, BC035358, BC151852, BU738250, EU293605
    Consensus CDS
    CCDS56355.1
    UniProtKB/Swiss-Prot
    A9YTQ3
    Related
    ENSP00000424601.1, OTTHUMP00000221489, ENST00000505113.5, OTTHUMT00000367720
    Conserved Domains (4) summary
    smart00353
    Location:3889
    HLH; helix loop helix domain
    smart00091
    Location:117180
    PAS; PAS domain
    pfam00989
    Location:115179
    PAS; PAS fold
    cl03994
    Location:189266
    Trp_dioxygenase; Tryptophan 2,3-dioxygenase
  2. NM_020731.4NP_065782.2  aryl hydrocarbon receptor repressor isoform 1

    See identical proteins and their annotated locations for NP_065782.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC010442, AK314472, BC035358, BC151852, BU738250
    Consensus CDS
    CCDS43297.1
    UniProtKB/Swiss-Prot
    A9YTQ3
    Related
    ENSP00000323816.5, OTTHUMP00000221488, ENST00000316418.9, OTTHUMT00000367719
    Conserved Domains (3) summary
    smart00353
    Location:3889
    HLH; helix loop helix domain
    smart00091
    Location:117180
    PAS; PAS domain
    pfam00989
    Location:115179
    PAS; PAS fold

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    304176..438291
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center