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A9YTQ3

- AHRR_HUMAN

UniProt

A9YTQ3 - AHRR_HUMAN

Protein

Aryl hydrocarbon receptor repressor

Gene

AHRR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 68 (01 Oct 2014)
      Sequence version 3 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    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.2 Publications

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. signal transducer activity Source: InterPro

    GO - Biological processi

    1. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    2. positive regulation of protein sumoylation Source: Ensembl
    3. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aryl hydrocarbon receptor repressor
    Short name:
    AhR repressor
    Short name:
    AhRR
    Alternative name(s):
    Class E basic helix-loop-helix protein 77
    Short name:
    bHLHe77
    Gene namesi
    Name:AHRR
    Synonyms:BHLHE77, KIAA1234
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:346. AHRR.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 PublicationPROSITE-ProRule annotation
    Note: Predominantly in the nuclear compartment. First cytoplasmic, translocates into the nuclear compartment upon interaction with ARNT in the cytoplasmic compartment.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24639.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 701701Aryl hydrocarbon receptor repressorPRO_0000333857Add
    BLAST

    Proteomic databases

    PaxDbiA9YTQ3.
    PRIDEiA9YTQ3.

    PTM databases

    PhosphoSiteiA9YTQ3.

    Expressioni

    Tissue specificityi

    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.3 Publications

    Inductioni

    By 3-methylcholanthrene (3-MC) in MNCs from adults. By the heterodimer AHR/ARNT.1 Publication

    Gene expression databases

    ArrayExpressiA9YTQ3.
    BgeeiA9YTQ3.
    GenevestigatoriA9YTQ3.

    Organism-specific databases

    HPAiHPA019614.
    HPA021483.

    Interactioni

    Subunit structurei

    Interacts with ARNT, ANKRA2, HDAC4 and HDAC5.By similarity

    Protein-protein interaction databases

    BioGridi121558. 5 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliA9YTQ3.
    SMRiA9YTQ3. Positions 32-277.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini28 – 8154bHLHPROSITE-ProRule annotationAdd
    BLAST
    Domaini112 – 18271PASPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni551 – 701151Needed for transcriptional repressionBy similarityAdd
    BLAST

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
    Contains 1 PAS (PER-ARNT-SIM) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG314160.
    HOGENOMiHOG000033866.
    HOVERGENiHBG073122.
    InParanoidiA9YTQ3.
    KOiK09094.
    OMAiAEGMIFY.
    OrthoDBiEOG793BBM.
    PhylomeDBiA9YTQ3.
    TreeFamiTF352074.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    PF00989. PAS. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    SM00091. PAS. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    SSF55785. SSF55785. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    PS50112. PAS. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: A9YTQ3-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPRTMIPPGE CTYAGRKRRR PLQKQRPAVG AEKSNPSKRH RDRLNAELDH    50
    LASLLPFPPD IISKLDKLSV LRLSVSYLRV KSFFQVVQEQ SSRQPAAGAP 100
    SPGDSCPLAG SAVLEGRLLL ESLNGFALVV SAEGTIFYAS ATIVDYLGFH 150
    QTDVMHQNIY DYIHVDDRQD FCRQLHWAMD PPQVVFGQPP PLETGDDAIL 200
    GRLLRAQEWG TGTPTEYSAF LTRCFICRVR CLLDSTSGFL TMQFQGKLKF 250
    LFGQKKKAPS GAMLPPRLSL FCIAAPVLLP SAAEMKMRSA LLRAKPRADT 300
    AATADAKVKA TTSLCESELH GKPNYSAGRS SRESGVLVLR EQTDAGRWAQ 350
    VPARAPCLCL RGGPDLVLDP KGGSGDREEE QHRMLSRASG VTGRRETPGP 400
    TKPLPWTAGK HSEDGARPRL QPSKNDPPSL RPMPRGSCLP CPCVQGTFRN 450
    SPISHPPSPS PSAYSSRTSR PMRDVGEDQV HPPLCHFPQR SLQHQLPQPG 500
    AQRFATRGYP MEDMKLQGVP MPPGDLCGPT LLLDVSIKME KDSGCEGAAD 550
    GCVPSQVWLG ASDRSHPATF PTRMHLKTEP DSRQQVYISH LGHGVRGAQP 600
    HGRATAGRSR ELTPFHPAHC ACLEPTDGLP QSEPPHQLCA RGRGEQSCTC 650
    RAAEAAPVVK REPLDSPQWA THSQGMVPGM LPKSALATLV PPQASGCTFL 700
    P 701
    Length:701
    Mass (Da):76,265
    Last modified:November 2, 2010 - v3
    Checksum:i488F6D41298760E0
    GO
    Isoform 2 (identifier: A9YTQ3-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         240-240: L → LARGSQAWQLRLCCPEPLM

    Show »
    Length:719
    Mass (Da):78,307
    Checksum:iBB88BB842E3C76FC
    GO
    Isoform 3 (identifier: A9YTQ3-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-4: Missing.
         240-240: L → LARGSQAWQLRLCCPEPLM

    Show »
    Length:715
    Mass (Da):77,821
    Checksum:i09A6288FDA63E7CA
    GO

    Sequence cautioni

    The sequence ABX89616.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA86548.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Polymorphismi

    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. Might also be associated with susceptibility to and severity of endometriosis.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti114 – 1141L → P.1 Publication
    Corresponds to variant rs35008248 [ dbSNP | Ensembl ].
    VAR_043308
    Natural varianti189 – 1891P → A.4 Publications
    Corresponds to variant rs2292596 [ dbSNP | Ensembl ].
    VAR_043309
    Natural varianti373 – 3731G → V.
    Corresponds to variant rs2303738 [ dbSNP | Ensembl ].
    VAR_043310
    Natural varianti627 – 6271D → H.
    Corresponds to variant rs34453673 [ dbSNP | Ensembl ].
    VAR_043311

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 44Missing in isoform 3. CuratedVSP_033563
    Alternative sequencei240 – 2401L → LARGSQAWQLRLCCPEPLM in isoform 2 and isoform 3. 2 PublicationsVSP_033564

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF293639
    , AF293629, AF293630, AF293631, AF293632, AF293633, AF293634, AF293635, AF293636, AF293637, AF293638 Genomic DNA. Translation: AAG33381.1.
    EU293605 mRNA. Translation: ABX89616.1. Different initiation.
    AB033060 mRNA. Translation: BAA86548.1. Different initiation.
    AC010442 Genomic DNA. No translation available.
    AC118458 Genomic DNA. No translation available.
    CH471235 Genomic DNA. Translation: EAW50992.1.
    BC151852 mRNA. Translation: AAI51853.1.
    BC152406 mRNA. Translation: AAI52407.1.
    CCDSiCCDS43297.1. [A9YTQ3-2]
    CCDS56355.1. [A9YTQ3-1]
    RefSeqiNP_001229341.1. NM_001242412.1. [A9YTQ3-1]
    NP_065782.2. NM_020731.4. [A9YTQ3-2]
    UniGeneiHs.50823.

    Genome annotation databases

    EnsembliENST00000316418; ENSP00000323816; ENSG00000063438. [A9YTQ3-2]
    ENST00000505113; ENSP00000424601; ENSG00000063438. [A9YTQ3-1]
    GeneIDi57491.
    KEGGihsa:57491.
    UCSCiuc003jav.3. human. [A9YTQ3-2]
    uc003jaw.3. human. [A9YTQ3-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF293639
    , AF293629 , AF293630 , AF293631 , AF293632 , AF293633 , AF293634 , AF293635 , AF293636 , AF293637 , AF293638 Genomic DNA. Translation: AAG33381.1 .
    EU293605 mRNA. Translation: ABX89616.1 . Different initiation.
    AB033060 mRNA. Translation: BAA86548.1 . Different initiation.
    AC010442 Genomic DNA. No translation available.
    AC118458 Genomic DNA. No translation available.
    CH471235 Genomic DNA. Translation: EAW50992.1 .
    BC151852 mRNA. Translation: AAI51853.1 .
    BC152406 mRNA. Translation: AAI52407.1 .
    CCDSi CCDS43297.1. [A9YTQ3-2 ]
    CCDS56355.1. [A9YTQ3-1 ]
    RefSeqi NP_001229341.1. NM_001242412.1. [A9YTQ3-1 ]
    NP_065782.2. NM_020731.4. [A9YTQ3-2 ]
    UniGenei Hs.50823.

    3D structure databases

    ProteinModelPortali A9YTQ3.
    SMRi A9YTQ3. Positions 32-277.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121558. 5 interactions.

    PTM databases

    PhosphoSitei A9YTQ3.

    Proteomic databases

    PaxDbi A9YTQ3.
    PRIDEi A9YTQ3.

    Protocols and materials databases

    DNASUi 57491.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000316418 ; ENSP00000323816 ; ENSG00000063438 . [A9YTQ3-2 ]
    ENST00000505113 ; ENSP00000424601 ; ENSG00000063438 . [A9YTQ3-1 ]
    GeneIDi 57491.
    KEGGi hsa:57491.
    UCSCi uc003jav.3. human. [A9YTQ3-2 ]
    uc003jaw.3. human. [A9YTQ3-1 ]

    Organism-specific databases

    CTDi 57491.
    GeneCardsi GC05P000291.
    HGNCi HGNC:346. AHRR.
    HPAi HPA019614.
    HPA021483.
    MIMi 606517. gene.
    neXtProti NX_A9YTQ3.
    PharmGKBi PA24639.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG314160.
    HOGENOMi HOG000033866.
    HOVERGENi HBG073122.
    InParanoidi A9YTQ3.
    KOi K09094.
    OMAi AEGMIFY.
    OrthoDBi EOG793BBM.
    PhylomeDBi A9YTQ3.
    TreeFami TF352074.

    Miscellaneous databases

    GenomeRNAii 57491.
    NextBioi 63778.
    PROi A9YTQ3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi A9YTQ3.
    Bgeei A9YTQ3.
    Genevestigatori A9YTQ3.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    IPR000014. PAS.
    IPR013767. PAS_fold.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    PF00989. PAS. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    SM00091. PAS. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    SSF55785. SSF55785. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    PS50112. PAS. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis."
      Fujita H., Kosaki R., Yoshihashi H., Ogata T., Tomita M., Hasegawa T., Takahashi T., Matsuo N., Kosaki K.
      Teratology 65:10-18(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3), TISSUE SPECIFICITY, VARIANT PRO-114.
    2. "Identification and functional analysis of a human AHR repressor."
      Karchner S.I., Evans B., Jenny M.J., Hahn M.E.
      Submitted (NOV-2007) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-189.
    3. "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.
      DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ALA-189.
      Tissue: Brain.
    4. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-189.
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ALA-189.
    7. "Characteristic expression of aryl hydrocarbon receptor repressor gene in human tissues: organ-specific distribution and variable induction patterns in mononuclear cells."
      Yamamoto J., Ihara K., Nakayama H., Hikino S., Satoh K., Kubo N., Iida T., Fujii Y., Hara T.
      Life Sci. 74:1039-1049(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, INDUCTION.
    8. "Identification of intracellular localization signals and of mechanisms underlining the nucleocytoplasmic shuttling of human aryl hydrocarbon receptor repressor."
      Kanno Y., Miyama Y., Takane Y., Nakahama T., Inouye Y.
      Biochem. Biophys. Res. Commun. 364:1026-1031(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    9. "Analysis of the transcriptional regulation and molecular function of the aryl hydrocarbon receptor repressor in human cell lines."
      Haarmann-Stemmann T., Bothe H., Kohli A., Sydlik U., Abel J., Fritsche E.
      Drug Metab. Dispos. 35:2262-2269(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    10. "The aryl hydrocarbon receptor repressor is a putative tumor suppressor gene in multiple human cancers."
      Zudaire E., Cuesta N., Murty V., Woodson K., Adams L., Gonzalez N., Martinez A., Narayan G., Kirsch I., Franklin W., Hirsch F., Birrer M., Cuttitta F.
      J. Clin. Invest. 118:640-650(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, FUNCTION.
    11. "Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins."
      Watanabe M., Sueoka K., Sasagawa I., Nakabayashi A., Yoshimura Y., Ogata T.
      Fertil. Steril. 82:1067-1071(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: POLYMORPHISM, ASSOCIATION WITH SUSCEPTIBILITY TO MALE INFERTILITY.
    12. "Analysis of the AhR, ARNT, and AhRR gene polymorphisms: genetic contribution to endometriosis susceptibility and severity."
      Tsuchiya M., Katoh T., Motoyama H., Sasaki H., Tsugane S., Ikenoue T.
      Fertil. Steril. 84:454-458(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: POLYMORPHISM, ASSOCIATION WITH SUSCEPTIBILITY TO ENDOMETRIOSIS.
    13. "The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility."
      Merisalu A., Punab M., Altmaee S., Haller K., Tiido T., Peters M., Salumets A.
      Fertil. Steril. 88:854-859(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: POLYMORPHISM, ASSOCIATION WITH SUSCEPTIBILITY TO MALE INFERTILITY.

    Entry informationi

    Entry nameiAHRR_HUMAN
    AccessioniPrimary (citable) accession number: A9YTQ3
    Secondary accession number(s): A7MBN5
    , D6RAZ1, Q9HAZ3, Q9ULI6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 20, 2008
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 68 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3