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A9YTQ3 (AHRR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:AHRR
Synonyms:BHLHE77, KIAA1234
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length701 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

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. Ref.9 Ref.10

Subunit structure

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

Subcellular location

Cytoplasm. Nucleus. Note: Predominantly in the nuclear compartment. First cytoplasmic, translocates into the nuclear compartment upon interaction with ARNT in the cytoplasmic compartment. Ref.8

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. Ref.1 Ref.7 Ref.10

Induction

By 3-methylcholanthrene (3-MC) in MNCs from adults. By the heterodimer AHR/ARNT. Ref.7

Polymorphism

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.

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Contains 1 PAS (PER-ARNT-SIM) domain.

Sequence caution

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.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: A9YTQ3-1)

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.
Isoform 2 (identifier: A9YTQ3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     240-240: L → LARGSQAWQLRLCCPEPLM
Isoform 3 (identifier: A9YTQ3-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 701701Aryl hydrocarbon receptor repressor
PRO_0000333857

Regions

Domain28 – 8154bHLH
Domain112 – 18271PAS
Region551 – 701151Needed for transcriptional repression By similarity

Natural variations

Alternative sequence1 – 44Missing in isoform 3.
VSP_033563
Alternative sequence2401L → LARGSQAWQLRLCCPEPLM in isoform 2 and isoform 3.
VSP_033564
Natural variant1141L → P. Ref.1
Corresponds to variant rs35008248 [ dbSNP | Ensembl ].
VAR_043308
Natural variant1891P → A. Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs2292596 [ dbSNP | Ensembl ].
VAR_043309
Natural variant3731G → V.
Corresponds to variant rs2303738 [ dbSNP | Ensembl ].
VAR_043310
Natural variant6271D → H.
Corresponds to variant rs34453673 [ dbSNP | Ensembl ].
VAR_043311

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 2, 2010. Version 3.
Checksum: 488F6D41298760E0

FASTA70176,265
        10         20         30         40         50         60 
MPRTMIPPGE CTYAGRKRRR PLQKQRPAVG AEKSNPSKRH RDRLNAELDH LASLLPFPPD 

        70         80         90        100        110        120 
IISKLDKLSV LRLSVSYLRV KSFFQVVQEQ SSRQPAAGAP SPGDSCPLAG SAVLEGRLLL 

       130        140        150        160        170        180 
ESLNGFALVV SAEGTIFYAS ATIVDYLGFH QTDVMHQNIY DYIHVDDRQD FCRQLHWAMD 

       190        200        210        220        230        240 
PPQVVFGQPP PLETGDDAIL GRLLRAQEWG TGTPTEYSAF LTRCFICRVR CLLDSTSGFL 

       250        260        270        280        290        300 
TMQFQGKLKF LFGQKKKAPS GAMLPPRLSL FCIAAPVLLP SAAEMKMRSA LLRAKPRADT 

       310        320        330        340        350        360 
AATADAKVKA TTSLCESELH GKPNYSAGRS SRESGVLVLR EQTDAGRWAQ VPARAPCLCL 

       370        380        390        400        410        420 
RGGPDLVLDP KGGSGDREEE QHRMLSRASG VTGRRETPGP TKPLPWTAGK HSEDGARPRL 

       430        440        450        460        470        480 
QPSKNDPPSL RPMPRGSCLP CPCVQGTFRN SPISHPPSPS PSAYSSRTSR PMRDVGEDQV 

       490        500        510        520        530        540 
HPPLCHFPQR SLQHQLPQPG AQRFATRGYP MEDMKLQGVP MPPGDLCGPT LLLDVSIKME 

       550        560        570        580        590        600 
KDSGCEGAAD GCVPSQVWLG ASDRSHPATF PTRMHLKTEP DSRQQVYISH LGHGVRGAQP 

       610        620        630        640        650        660 
HGRATAGRSR ELTPFHPAHC ACLEPTDGLP QSEPPHQLCA RGRGEQSCTC RAAEAAPVVK 

       670        680        690        700 
REPLDSPQWA THSQGMVPGM LPKSALATLV PPQASGCTFL P 

« Hide

Isoform 2 [UniParc].

Checksum: BB88BB842E3C76FC
Show »

FASTA71978,307
Isoform 3 [UniParc].

Checksum: 09A6288FDA63E7CA
Show »

FASTA71577,821

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF293639 expand/collapse EMBL AC list , 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.
CCDSCCDS43297.1. [A9YTQ3-2]
CCDS56355.1. [A9YTQ3-1]
RefSeqNP_001229341.1. NM_001242412.1. [A9YTQ3-1]
NP_065782.2. NM_020731.4. [A9YTQ3-2]
UniGeneHs.50823.

3D structure databases

ProteinModelPortalA9YTQ3.
SMRA9YTQ3. Positions 32-277.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121558. 5 interactions.

PTM databases

PhosphoSiteA9YTQ3.

Proteomic databases

PaxDbA9YTQ3.
PRIDEA9YTQ3.

Protocols and materials databases

DNASU57491.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316418; ENSP00000323816; ENSG00000063438. [A9YTQ3-2]
ENST00000505113; ENSP00000424601; ENSG00000063438. [A9YTQ3-1]
GeneID57491.
KEGGhsa:57491.
UCSCuc003jav.3. human. [A9YTQ3-2]
uc003jaw.3. human. [A9YTQ3-1]

Organism-specific databases

CTD57491.
GeneCardsGC05P000291.
HGNCHGNC:346. AHRR.
HPAHPA019614.
HPA021483.
MIM606517. gene.
neXtProtNX_A9YTQ3.
PharmGKBPA24639.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG314160.
HOGENOMHOG000033866.
HOVERGENHBG073122.
InParanoidA9YTQ3.
KOK09094.
OMAAEGMIFY.
OrthoDBEOG793BBM.
PhylomeDBA9YTQ3.
TreeFamTF352074.

Gene expression databases

ArrayExpressA9YTQ3.
BgeeA9YTQ3.
GenevestigatorA9YTQ3.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR000014. PAS.
IPR013767. PAS_fold.
[Graphical view]
PfamPF00010. HLH. 1 hit.
PF00989. PAS. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
SM00091. PAS. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
SSF55785. SSF55785. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
PS50112. PAS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57491.
NextBio63778.
PROA9YTQ3.
SOURCESearch...

Entry information

Entry nameAHRR_HUMAN
AccessionPrimary (citable) accession number: A9YTQ3
Secondary accession number(s): A7MBN5 expand/collapse secondary AC list , D6RAZ1, Q9HAZ3, Q9ULI6
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM