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

Gene ID: 57491, updated on 29-Mar-2023

Summary

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; AllianceGenome:HGNC:346
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
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Genomic context

See AHRR in Genome Data Viewer
Location:
5p15.33
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (321714..438285)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (312595..433546)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (321829..438400)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene PDCD6-AHRR readthrough (NMD candidate) Neighboring gene programmed cell death 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:301867-302372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:306908-307792 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:322065-322632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:372826-373456 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:399561-400760 Neighboring gene mitochondrial translational initiation factor 3 pseudogene Neighboring gene AHRR intron CAGE-defined high expression enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:415251-415804 Neighboring gene uncharacterized LOC124900930 Neighboring gene EXOC3 antisense RNA 1 Neighboring gene exocyst complex component 3

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
EBI GWAS Catalog
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough PDCD6-AHRR

Readthrough gene: PDCD6-AHRR, Included gene: PDCD6

Homology

Clone Names

  • KIAA1234, MGC167813, MGC176630

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables nuclear receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
enables transcription cis-regulatory region binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of aryl hydrocarbon receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
aryl hydrocarbon receptor repressor
Names
ahR repressor
aryl hydrocarbon hydroxylase regulator
class E basic helix-loop-helix protein 77
dioxin receptor repressor

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_029834.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001377236.1NP_001364165.1  aryl hydrocarbon receptor repressor

    Status: REVIEWED

    Source sequence(s)
    AC010442, AC118458
    Consensus CDS
    CCDS93682.1
    UniProtKB/TrEMBL
    A0A7I2PK40
    Related
    ENSP00000507476.1, ENST00000684583.1
    Conserved Domains (2) summary
    smart00091
    Location:113176
    PAS; PAS domain
    cd11435
    Location:2685
    bHLH-PAS_AhRR; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor repressor (AhRR) and similar proteins
  2. NM_001377239.1NP_001364168.1  aryl hydrocarbon receptor repressor

    Status: REVIEWED

    Source sequence(s)
    AC010442, AC118458
    Consensus CDS
    CCDS93682.1
    UniProtKB/TrEMBL
    A0A7I2PK40
    Related
    ENSP00000323816.6, ENST00000316418.10
    Conserved Domains (2) summary
    smart00091
    Location:113176
    PAS; PAS domain
    cd11435
    Location:2685
    bHLH-PAS_AhRR; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor repressor (AhRR) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    321714..438285
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    312595..433546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001242412.1: Suppressed sequence

    Description
    NM_001242412.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein. The transcript is incomplete at the 5' end.
  2. NM_020731.4: Suppressed sequence

    Description
    NM_020731.4: This RefSeq was removed because currently there is insufficient support for the transcript and the protein. The transcript is incomplete at the 5' end.