• Gene id: 57491

Gene Summary

• Gene Symbol: AHRR   Gene   UCSC   Ensembl
• Aliases: AHH, AHHR, bHLHe77
• Gene name: aryl-hydrocarbon receptor repressor
• Alternate names: aryl hydrocarbon receptor repressor, ahR repressor, aryl hydrocarbon hydroxylase regulator, class E basic helix-loop-helix protein 77, dioxin receptor repressor,
• Gene location: 5p15.33 (321713: 438284)     Exons: 12     NC_000005.10
• Gene summary(Entrez): 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 Ah

SNPs

rs2292596

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.422840C>G
NC_000005.10   g.422840C>T
NC_000005.9   g.422955C>G
NC_000005.9   g.422955C>T
NG_029834.2   g.123665C>G
NG_029834.2   g.123665C>T
NG_029834.1   g.123665C>G
NG_029834.1   g.123665C>T
NM_020731.4   c.565C>G
NM_020731.4   c.565C>T
NM_001242412.1  

Protein Summary

• Protein general information: A9YTQ3  
  • Name: Aryl hydrocarbon receptor repressor (AhR repressor) (AhRR) (Class E basic helix loop helix protein 77) (bHLHe77)
  • Length: 701  
  • Mass: 76265
  • 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 fro
• Sequence:

  MPRTMIPPGECTYAGRKRRRPLQKQRPAVGAEKSNPSKRHRDRLNAELDHLASLLPFPPDIISKLDKLSVLRLSV
  SYLRVKSFFQVVQEQSSRQPAAGAPSPGDSCPLAGSAVLEGRLLLESLNGFALVVSAEGTIFYASATIVDYLGFH
  QTDVMHQNIYDYIHVDDRQDFCRQLHWAMDPPQVVFGQPPPLETGDDAILGRLLRAQEWGTGTPTEYSAFLTRCF
  ICRVRCLLDSTSGFLTMQFQGKLKFLFGQKKKAPSGAMLPPRLSLFCIAAPVLLPSAAEMKMRSALLRAKPRADT
  AATADAKVKATTSLCESELHGKPNYSAGRSSRESGVLVLREQTDAGRWAQVPARAPCLCLRGGPDLVLDPKGGSG
  DREEEQHRMLSRASGVTGRRETPGPTKPLPWTAGKHSEDGARPRLQPSKNDPPSLRPMPRGSCLPCPCVQGTFRN
  SPISHPPSPSPSAYSSRTSRPMRDVGEDQVHPPLCHFPQRSLQHQLPQPGAQRFATRGYPMEDMKLQGVPMPPGD
  LCGPTLLLDVSIKMEKDSGCEGAADGCVPSQVWLGASDRSHPATFPTRMHLKTEPDSRQQVYISHLGHGVRGAQP
  HGRATAGRSRELTPFHPAHCACLEPTDGLPQSEPPHQLCARGRGEQSCTCRAAEAAPVVKREPLDSPQWATHSQG
  MVPGMLPKSALATLVPPQASGCTFLP

• Structural information:
  • Protein Domains: (28..8-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (112..18-)
    (/note="PAS-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140"-)
  • Interpro: IPR039091  IPR039092  IPR011598  IPR036638  IPR000014   IPR035965  IPR013767  
  • Prosite: PS50888 PS50112
  • CDD: cd00083 cd00130
  • PDB: 5Y7Y
  • PDBsum: 5Y7Y
  • STRING: ENSP00000323816
• Other Databases: GeneCards:  AHRR  Malacards:  AHRR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0004879	nuclear receptor activity	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:1990837	sequence-specific double-stranded DNA binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006805	xenobiotic metabolic process	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0009410	response to xenobiotic stimulus	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030522	intracellular receptor signaling pathway	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray