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UniProtKB - A9YTQ3 (AHRR_HUMAN)

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Protein

Aryl hydrocarbon receptor repressor

Gene

AHRR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein 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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-8937144 Aryl hydrocarbon receptor signalling

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000063438.16
HGNCiHGNC:346 AHRR
MIMi606517 gene
neXtProtiNX_A9YTQ3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi57491
OpenTargetsiENSG00000063438
PharmGKBiPA24639

Polymorphism and mutation databases

BioMutaiAHRR

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003338571 – 701Aryl hydrocarbon receptor repressorAdd BLAST701

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki577Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki660Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

PaxDbiA9YTQ3
PRIDEiA9YTQ3
ProteomicsDBi2518
2519 [A9YTQ3-2]
2520 [A9YTQ3-3]

PTM databases

iPTMnetiA9YTQ3
PhosphoSitePlusiA9YTQ3

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

BgeeiENSG00000063438
ExpressionAtlasiA9YTQ3 baseline and differential
GenevisibleiA9YTQ3 HS

Organism-specific databases

HPAiHPA021483

Interactioni

Subunit structurei

Interacts with ANKRA2, HDAC4 and HDAC5. Interacts with ARNT; forms a heterodimer with ARNT (PubMed:28904176).By similarity1 Publication

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi121558, 5 interactors
STRINGi9606.ENSP00000323816

Structurei

Secondary structure

1701
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi39 – 53Combined sources15
Beta strandi55 – 57Combined sources3
Helixi59 – 62Combined sources4
Helixi67 – 89Combined sources23
Helixi117 – 122Combined sources6
Beta strandi123 – 130Combined sources8
Beta strandi134 – 139Combined sources6
Helixi143 – 147Combined sources5
Helixi151 – 154Combined sources4
Helixi159 – 162Combined sources4
Helixi165 – 167Combined sources3
Helixi168 – 175Combined sources8
Helixi197 – 206Combined sources10
Helixi218 – 220Combined sources3
Beta strandi221 – 230Combined sources10
Beta strandi235 – 250Combined sources16
Beta strandi259 – 261Combined sources3
Beta strandi268 – 276Combined sources9

3D structure databases

ProteinModelPortaliA9YTQ3
SMRiA9YTQ3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini28 – 81bHLHPROSITE-ProRule annotationAdd BLAST54
Domaini112 – 182PASPROSITE-ProRule annotationAdd BLAST71

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni551 – 701Needed for transcriptional repressionBy similarityAdd BLAST151

Phylogenomic databases

eggNOGiKOG3560 Eukaryota
ENOG410XRZH LUCA
GeneTreeiENSGT00910000144132
HOGENOMiHOG000033866
HOVERGENiHBG073122
InParanoidiA9YTQ3
KOiK09094
OMAiFPTRMHL
OrthoDBiEOG091G16AJ
PhylomeDBiA9YTQ3
TreeFamiTF352074

Family and domain databases

CDDicd00083 HLH, 1 hit
cd00130 PAS, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR039091 AHR/AHRR
IPR039092 AHRR
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
IPR000014 PAS
IPR035965 PAS-like_dom_sf
IPR013767 PAS_fold
PANTHERiPTHR10649 PTHR10649, 1 hit
PTHR10649:SF3 PTHR10649:SF3, 1 hit
PfamiView protein in Pfam
PF00010 HLH, 1 hit
PF00989 PAS, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SM00091 PAS, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
SSF55785 SSF55785, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit
PS50112 PAS, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MPRTMIPPGE CTYAGRKRRR PLQKQRPAVG AEKSNPSKRH RDRLNAELDH 
        60         70         80         90        100
LASLLPFPPD IISKLDKLSV LRLSVSYLRV KSFFQVVQEQ SSRQPAAGAP 
       110        120        130        140        150
SPGDSCPLAG SAVLEGRLLL ESLNGFALVV SAEGTIFYAS ATIVDYLGFH 
       160        170        180        190        200
QTDVMHQNIY DYIHVDDRQD FCRQLHWAMD PPQVVFGQPP PLETGDDAIL 
       210        220        230        240        250
GRLLRAQEWG TGTPTEYSAF LTRCFICRVR CLLDSTSGFL TMQFQGKLKF 
       260        270        280        290        300
LFGQKKKAPS GAMLPPRLSL FCIAAPVLLP SAAEMKMRSA LLRAKPRADT 
       310        320        330        340        350
AATADAKVKA TTSLCESELH GKPNYSAGRS SRESGVLVLR EQTDAGRWAQ 
       360        370        380        390        400
VPARAPCLCL RGGPDLVLDP KGGSGDREEE QHRMLSRASG VTGRRETPGP 
       410        420        430        440        450
TKPLPWTAGK HSEDGARPRL QPSKNDPPSL RPMPRGSCLP CPCVQGTFRN 
       460        470        480        490        500
SPISHPPSPS PSAYSSRTSR PMRDVGEDQV HPPLCHFPQR SLQHQLPQPG 
       510        520        530        540        550
AQRFATRGYP MEDMKLQGVP MPPGDLCGPT LLLDVSIKME KDSGCEGAAD 
       560        570        580        590        600
GCVPSQVWLG ASDRSHPATF PTRMHLKTEP DSRQQVYISH LGHGVRGAQP 
       610        620        630        640        650
HGRATAGRSR ELTPFHPAHC ACLEPTDGLP QSEPPHQLCA RGRGEQSCTC 
       660        670        680        690        700
RAAEAAPVVK REPLDSPQWA THSQGMVPGM LPKSALATLV PPQASGCTFL 

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

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 (PubMed:15474075, PubMed:17559847). Might also be associated with susceptibility to and severity of endometriosis.2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043308114L → P1 PublicationCorresponds to variant dbSNP:rs35008248Ensembl.1
Natural variantiVAR_043309189P → A4 PublicationsCorresponds to variant dbSNP:rs2292596Ensembl.1
Natural variantiVAR_043310373G → V. Corresponds to variant dbSNP:rs2303738Ensembl.1
Natural variantiVAR_043311627D → H. Corresponds to variant dbSNP:rs34453673Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0335631 – 4Missing in isoform 3. Curated4
Alternative sequenceiVSP_033564240L → LARGSQAWQLRLCCPEPLM in isoform 2 and isoform 3. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4 human [A9YTQ3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAHRR_HUMAN
AccessioniPrimary (citable) accession number: A9YTQ3
Secondary accession number(s): A7MBN5
, D6RAZ1, Q9HAZ3, Q9ULI6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: November 2, 2010
Last modified: July 18, 2018
This is version 100 of the entry and version 3 of the sequence. See 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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