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A9YTQ3

- AHRR_HUMAN

UniProt

A9YTQ3 - AHRR_HUMAN

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Protein
Aryl hydrocarbon receptor repressor
Gene
AHRR, BHLHE77, KIAA1234
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

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 repressor
PRO_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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini28 – 8154bHLH
Add
BLAST
Domaini112 – 18271PAS
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni551 – 701151Needed for transcriptional repression By similarity
Add
BLAST

Sequence similaritiesi

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.
VSP_033563
Alternative sequencei240 – 2401L → LARGSQAWQLRLCCPEPLM in isoform 2 and isoform 3.
VSP_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...

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 67 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

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