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Aliases for AHRR Gene

Aliases for AHRR Gene

  • Aryl-Hydrocarbon Receptor Repressor 2 3 5
  • Class E Basic Helix-Loop-Helix Protein 77 3 4
  • AhR Repressor 3 4
  • BHLHe77 3 4
  • Aryl Hydrocarbon Hydroxylase Regulator 3
  • Aryl Hydrocarbon Receptor Regulator 2
  • Dioxin Receptor Repressor 3
  • KIAA1234 4
  • AHHR 3
  • AhRR 4
  • AHH 3

External Ids for AHRR Gene

Previous HGNC Symbols for AHRR Gene

  • AHH
  • AHHR

Previous GeneCards Identifiers for AHRR Gene

  • GC05U990138
  • GC05P000303
  • GC02U900446
  • GC05P000357
  • GC05P000325
  • GC05P000327
  • GC05P000291

Summaries for AHRR Gene

Entrez Gene Summary for AHRR Gene

  • 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]

GeneCards Summary for AHRR Gene

AHRR (Aryl-Hydrocarbon Receptor Repressor) is a Protein Coding gene. Diseases associated with AHRR include Endometriosis and Male Infertility. Among its related pathways are AHR Pathway (Qiagen) and AhR pathway (WikiPathways). GO annotations related to this gene include signal transducer activity and transcriptional repressor activity, RNA polymerase II transcription factor binding. An important paralog of this gene is AHR.

UniProtKB/Swiss-Prot for AHRR Gene

  • Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AHRR Gene

Genomics for AHRR Gene

Regulatory Elements for AHRR Gene

Enhancers for AHRR Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AHRR on UCSC Golden Path with GeneCards custom track

Genomic Location for AHRR Gene

Chromosome:
5
Start:
304,176 bp from pter
End:
438,291 bp from pter
Size:
134,116 bases
Orientation:
Plus strand

Genomic View for AHRR Gene

Genes around AHRR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AHRR Gene

Proteins for AHRR Gene

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

    Protein Symbol:
    A9YTQ3-AHRR_HUMAN
    Recommended name:
    Aryl hydrocarbon receptor repressor
    Protein Accession:
    A9YTQ3
    Secondary Accessions:
    • A7MBN5
    • D6RAZ1
    • Q9HAZ3
    • Q9ULI6

    Protein attributes for AHRR Gene

    Size:
    701 amino acids
    Molecular mass:
    76265 Da
    Quaternary structure:
    • Interacts with ARNT, ANKRA2, HDAC4 and HDAC5.
    SequenceCaution:
    • Sequence=ABX89616.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA86548.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for AHRR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AHRR Gene

Proteomics data for AHRR Gene at MOPED

Post-translational modifications for AHRR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AHRR Gene

Domains & Families for AHRR Gene

Gene Families for AHRR Gene

Protein Domains for AHRR Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AHRR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A9YTQ3

UniProtKB/Swiss-Prot:

AHRR_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 PAS (PER-ARNT-SIM) domain.
genes like me logo Genes that share domains with AHRR: view

Function for AHRR Gene

Molecular function for AHRR Gene

UniProtKB/Swiss-Prot Function:
Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site.
UniProtKB/Swiss-Prot Induction:
By 3-methylcholanthrene (3-MC) in MNCs from adults. By the heterodimer AHR/ARNT.
genes like me logo Genes that share phenotypes with AHRR: view

Animal Models for AHRR Gene

MGI Knock Outs for AHRR:

Animal Model Products

miRNA for AHRR Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AHRR Gene

Localization for AHRR Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHRR Gene

Cytoplasm. Nucleus. Note=Predominantly in the nuclear compartment. First cytoplasmic, translocates into the nuclear compartment upon interaction with ARNT in the cytoplasmic compartment.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AHRR Gene COMPARTMENTS Subcellular localization image for AHRR gene
Compartment Confidence
nucleus 4

No data available for Gene Ontology (GO) - Cellular Components for AHRR Gene

Pathways & Interactions for AHRR Gene

SuperPathways for AHRR Gene

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

Pathways by source for AHRR Gene

1 BioSystems pathway for AHRR Gene
1 Qiagen pathway for AHRR Gene

Gene Ontology (GO) - Biological Process for AHRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0009410 response to xenobiotic stimulus IBA --
genes like me logo Genes that share ontologies with AHRR: view

No data available for SIGNOR curated interactions for AHRR Gene

Drugs & Compounds for AHRR Gene

(1) Additional Compounds for AHRR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AHRR: view

Transcripts for AHRR Gene

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

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9 ^ 10 ^ 11 ^ 12 ^
SP1: - - - - - - - - - - - - - -
SP2:
SP3:
SP4: - - - - - -
SP5: - - - - -
SP6: - - - - -
SP7: -
SP8:
SP9: - -
SP10: - - - - - - -
SP11: - - - - -
SP12: - - - - - - -
SP13: - - - - - -
SP14: -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: -

ExUns: 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c · 17d · 17e ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c · 23d
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7: - - -
SP8: - - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - - -
SP19:
SP20:

Relevant External Links for AHRR Gene

GeneLoc Exon Structure for
AHRR
ECgene alternative splicing isoforms for
AHRR

Expression for AHRR Gene

mRNA expression in normal human tissues for AHRR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AHRR Gene

This gene is overexpressed in Neutrophil (46.8) and Heart (22.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AHRR Gene



mRNA Expression by UniProt/SwissProt for AHRR Gene

A9YTQ3-AHRR_HUMAN
Tissue specificity: Highly expressed in testis, lung, ovary, spleen and pancreas. Highly expressed in mononuclear cells (MNCs) from umbilical cord blood. Isoform 3 is highly expressed in lung, kidney, spleen and thymus. Down-regulated malignant tissue from different anatomical origins, including colon, breast, lung, stomach, cervix, and ovary.
genes like me logo Genes that share expression patterns with AHRR: view

Protein tissue co-expression partners for AHRR Gene

Primer Products

No data available for mRNA differential expression in normal tissues for AHRR Gene

Orthologs for AHRR Gene

This gene was present in the common ancestor of animals.

Orthologs for AHRR Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Ahrr 35
  • 70.5 (n)
  • 63.33 (a)
Ahrr 16
Ahrr 36
  • 60 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AHRR 35
  • 97.14 (n)
  • 95.71 (a)
rat
(Rattus norvegicus)
Mammalia Ahrr 35
  • 70.2 (n)
  • 62.89 (a)
cow
(Bos Taurus)
Mammalia AHRR 36
  • 50 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AHRR 36
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AHRR 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 12 (a)
ManyToMany
chicken
(Gallus gallus)
Aves AHRR 35
  • 56.6 (n)
  • 50.65 (a)
AHRR 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AHRR 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485488 35
  • 53.93 (n)
  • 46.02 (a)
zebrafish
(Danio rerio)
Actinopterygii ahrrb 36
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ss 36
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ahr-1 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
OneToMany
Species with no ortholog for AHRR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 AHRR Gene

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

Paralogs for AHRR Gene

Paralogs for AHRR Gene

(3) SIMAP similar genes for AHRR Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with AHRR: view

Variants for AHRR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AHRR Gene

AHRR_HUMAN-A9YTQ3
The Ala-189 allele may be a susceptibility factor for dioxin-related male infertility. Homozygosity for Ala-189 is observed in azoospermic individuals at higher frequency than in normozoospermic individuals (PubMed:15474075, PubMed:17559847). Might also be associated with susceptibility to and severity of endometriosis.

Sequence variations from dbSNP and Humsavar for AHRR Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs35008248 - 376,694(+) CGTGC(C/T)GGAGG reference, missense
rs2292596 - 422,840(-) CGGGG(C/G)CTGCC reference, missense
rs2303738 - 432,941(-) CTGAG(A/C)CCCCC reference, missense
rs34453673 - 434,607(+) CCACA(C/G)ACGGC reference, missense
rs732111 -- 407,115(-) GACAG(A/G)AGCAT intron-variant

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

Variant ID Type Subtype PubMed ID
essv22552 CNV CNV 17122850
dgv1733e1 CNV Complex 17122850
esv2752083 CNV Gain 17911159
dgv1734e1 CNV Complex 17122850
nsv428458 CNV Loss 18775914
nsv880815 CNV Loss 21882294
nsv518607 CNV Gain 19592680
nsv880786 CNV Loss 21882294
nsv461887 CNV Gain 19166990
nsv881337 CNV Loss 21882294
nsv881437 CNV Loss 21882294
nsv880946 CNV Loss 21882294
esv2369327 CNV Deletion 18987734
nsv329327 CNV Loss 16902084
esv995455 CNV Deletion 20482838
esv1500777 CNV Deletion 17803354
esv2502817 CNV Insertion 19546169
esv1175822 CNV Insertion 17803354
nsv509041 CNV Insertion 20534489
nsv512845 CNV Insertion 21212237
esv2674163 CNV Deletion 23128226
esv1997829 CNV Deletion 18987734
nsv830183 CNV Gain+Loss 17160897
nsv4672 CNV Insertion 18451855
esv27505 CNV Gain 19812545
esv989115 CNV Insertion 20482838
nsv327296 CNV Insertion 16902084
esv1676154 CNV Insertion 17803354
nsv830184 CNV Gain 17160897
esv2752071 CNV Gain 17911159
nsv526648 CNV Gain 19592680
esv2094113 CNV Deletion 18987734
esv2581256 CNV Deletion 19546169
dgv5880n71 CNV Loss 21882294
esv21507 CNV Gain+Loss 19812545
esv1484913 CNV Insertion 17803354
nsv10646 CNV Loss 18304495
esv2231288 CNV Deletion 18987734
nsv880597 CNV Gain 21882294
nsv881301 CNV Gain 21882294
dgv5881n71 CNV Gain 21882294
nsv516539 CNV Gain+Loss 19592680
dgv5882n71 CNV Loss 21882294
nsv880710 CNV Loss 21882294
nsv880617 CNV Loss 21882294
nsv4673 CNV Insertion 18451855
esv2095296 CNV Deletion 18987734
esv22707 CNV Loss 19812545
esv1629964 CNV Insertion 17803354
nsv329656 CNV Insertion 16902084
nsv881627 CNV Loss 21882294
nsv461889 CNV Gain 19166990
esv996608 CNV Insertion 20482838
nsv327676 CNV Insertion 16902084
esv1017920 CNV Insertion 17803354
nsv327598 CNV Insertion 16902084

Variation tolerance for AHRR Gene

Residual Variation Intolerance Score: 41.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.43; 81.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AHRR Gene

Human Gene Mutation Database (HGMD)
AHRR

Disorders for AHRR Gene

MalaCards: The human disease database

(2) MalaCards diseases for AHRR Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
endometriosis
male infertility
  • infertility male
- elite association - COSMIC cancer census association via MalaCards
Search AHRR in MalaCards View complete list of genes associated with diseases

Relevant External Links for AHRR

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

No data available for UniProtKB/Swiss-Prot and Genatlas for AHRR Gene

Publications for AHRR Gene

  1. The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility. (PMID: 17559847) Merisalu A. … Salumets A. (Fertil. Steril. 2007) 3 4 48 67
  2. Characteristic expression of aryl hydrocarbon receptor repressor gene in human tissues: organ-specific distribution and variable induction patterns in mononuclear cells. (PMID: 14672759) Yamamoto J. … Hara T. (Life Sci. 2004) 3 23
  3. Structure and polymorphisms of human aryl hydrocarbon receptor repressor (AhRR) gene in a French population: relationship with CYP1A1 inducibility and lung cancer. (PMID: 12777964) Cauchi S. … Massaad-Massade L. (Pharmacogenetics 2003) 3 23
  4. Structure and expression of the Ah receptor repressor gene. (PMID: 11423533) Baba T. … Fujii-Kuriyama Y. (J. Biol. Chem. 2001) 2 3
  5. Assignment of a locus required for flavoprotein-linked monooxygenase expression to human chromosome 2. (PMID: 1070014) Brown S. … Minna J.D. (Proc. Natl. Acad. Sci. U.S.A. 1976) 2 3

Products for AHRR Gene

Sources for AHRR Gene

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