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

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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

From Differential DNA Methylation in COPD to Mitochondria: Regulation of AHRR Expression Affects Airway Epithelial Response to Cigarette Smoke.
Title: From Differential DNA Methylation in COPD to Mitochondria: Regulation of AHRR Expression Affects Airway Epithelial Response to Cigarette Smoke.
AhRR methylation contributes to disease progression in urothelial bladder cancer.
Title: AhRR methylation contributes to disease progression in urothelial bladder cancer.
The association between DNA methylation of 6p21.33 and AHRR in blood and coronary heart disease in Chinese population.
Title: The association between DNA methylation of 6p21.33 and AHRR in blood and coronary heart disease in Chinese population.
The Contribution of Genetic Variation and Aberrant Methylation of Aryl Hydrocarbon Receptor Signaling Pathway Genes to Rheumatoid Arthritis.
Title: The Contribution of Genetic Variation and Aberrant Methylation of Aryl Hydrocarbon Receptor Signaling Pathway Genes to Rheumatoid Arthritis.
AHRR (cg05575921) Methylation Safely Improves Specificity of Lung Cancer Screening Eligibility Criteria: A Cohort Study.
Title: AHRR (cg05575921) Methylation Safely Improves Specificity of Lung Cancer Screening Eligibility Criteria: A Cohort Study.
Epigenetic Biomarkers of Prenatal Tobacco Smoke Exposure Are Associated with Gene Deletions in Childhood Acute Lymphoblastic Leukemia.
Title: Epigenetic Biomarkers of Prenatal Tobacco Smoke Exposure Are Associated with Gene Deletions in Childhood Acute Lymphoblastic Leukemia.
Genetic variation in CYP1A1 and AHRR genes increase the risk of systemic lupus erythematosus and exacerbate disease severity in smoker patients.
Title: Genetic variation in CYP1A1 and AHRR genes increase the risk of systemic lupus erythematosus and exacerbate disease severity in smoker patients.
Hypomethylation of AHRR (cg05575921) Is Related to Smoking Status in the Mexican Mestizo Population.
Title: Hypomethylation of AHRR (cg05575921) Is Related to Smoking Status in the Mexican Mestizo Population.
Association Between Polycystic Ovary Syndrome and the Polymorphisms of Aryl Hydrocarbon Receptor Repressor, Glutathione-S-transferase T1, and Glutathione-S-transferase M1 Genes.
Title: Association Between Polycystic Ovary Syndrome and the Polymorphisms of Aryl Hydrocarbon Receptor Repressor, Glutathione-S-transferase T1, and Glutathione-S-transferase M1 Genes.
AHRR cg05575921 methylation in relation to smoking and PM2.5 exposure among Taiwanese men and women.
Title: AHRR cg05575921 methylation in relation to smoking and PM(2.5) exposure among Taiwanese men and women.

Submit: New GeneRIF Correction See all GeneRIFs (75)

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

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 EBI GWAS CatalogPubMed
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH44696 (e-PCR)
- UniSTS:87827

D5S1680E (e-PCR)
- UniSTS:151069

SGC32312 (e-PCR)
- UniSTS:6950

RH77958 (e-PCR)
- UniSTS:22055

D5S1924E (e-PCR)
- UniSTS:153916

D5S2273E (e-PCR)
- UniSTS:154479

AHRR__4268 (e-PCR)
- UniSTS:462721

D5S2300E (e-PCR)
- UniSTS:154508

SHGC-146482 (e-PCR)
- UniSTS:175245

D5S2509 (e-PCR)
- UniSTS:37557

SGC34338 (e-PCR)
- UniSTS:45504

RH47205 (e-PCR)
- UniSTS:61664

Readthrough PDCD6-AHRR

Readthrough gene: PDCD6-AHRR, Included gene: PDCD6

Homology

Orthologs from Annotation Pipeline: 330 organisms have orthologs with human gene AHRR
Orthologs

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

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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

NG_029834.2 RefSeqGene

Range

5001..139116

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001377236.1 → NP_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:113 → 176

PAS; PAS domain

cd11435
Location:26 → 85

bHLH-PAS_AhRR; basic helix-loop-helix-Per-ARNT-Sim (bHLH-PAS) domain found in aryl hydrocarbon receptor repressor (AhRR) and similar proteins
NM_001377239.1 → NP_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:113 → 176

PAS; PAS domain

cd11435
Location:26 → 85

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

321714..438285

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

312595..433546

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.
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.