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P10275

- ANDR_HUMAN

UniProt

P10275 - ANDR_HUMAN

Protein

Androgen receptor

Gene

AR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 220 (01 Oct 2014)
      Sequence version 2 (01 Apr 1990)
      Previous versions | rss
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    Functioni

    Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Transcription factor activity is modulated by bound coactivator and corepressor proteins. Transcription activation is down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.7 Publications

    Enzyme regulationi

    AIM-100 (4-amino-5,6-biaryl-furo[2,3-d]pyrimidine) suppresses TNK2-mediated phosphorylation at Tyr-267. Inhibits the binding of the Tyr-267 phosphorylated form to androgen-responsive enhancers (AREs) and its transcriptional activity.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei705 – 7051Androgen
    Sitei720 – 7201Interaction with coactivator LXXL motif
    Binding sitei752 – 7521Androgen
    Binding sitei877 – 8771Androgen
    Sitei897 – 8971Interaction with coactivator FXXLF motif

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi559 – 63173Nuclear receptorPROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri559 – 57921NR C4-typePROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri595 – 61925NR C4-typePROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. androgen binding Source: UniProtKB
    2. androgen receptor activity Source: UniProtKB
    3. beta-catenin binding Source: BHF-UCL
    4. chromatin binding Source: UniProtKB
    5. DNA binding Source: UniProtKB
    6. enzyme binding Source: UniProtKB
    7. ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity Source: BHF-UCL
    8. protein binding Source: UniProtKB
    9. protein dimerization activity Source: UniProtKB
    10. receptor binding Source: UniProtKB
    11. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
    12. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB
    13. RNA polymerase II transcription factor binding Source: BHF-UCL
    14. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    15. transcription factor binding Source: BHF-UCL
    16. transcription regulatory region DNA binding Source: UniProtKB
    17. zinc ion binding Source: InterPro

    GO - Biological processi

    1. androgen receptor signaling pathway Source: UniProtKB
    2. cell-cell signaling Source: ProtInc
    3. cell death Source: UniProtKB-KW
    4. cell growth Source: UniProtKB
    5. cell proliferation Source: UniProtKB
    6. gene expression Source: Reactome
    7. intracellular receptor signaling pathway Source: BHF-UCL
    8. negative regulation of extrinsic apoptotic signaling pathway Source: BHF-UCL
    9. negative regulation of integrin biosynthetic process Source: BHF-UCL
    10. positive regulation of cell proliferation Source: BHF-UCL
    11. positive regulation of integrin biosynthetic process Source: BHF-UCL
    12. positive regulation of NF-kappaB transcription factor activity Source: BHF-UCL
    13. positive regulation of phosphorylation Source: BHF-UCL
    14. positive regulation of transcription, DNA-templated Source: UniProtKB
    15. positive regulation of transcription from RNA polymerase III promoter Source: BHF-UCL
    16. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    17. prostate gland development Source: UniProtKB
    18. protein oligomerization Source: MGI
    19. regulation of establishment of protein localization to plasma membrane Source: BHF-UCL
    20. sex differentiation Source: UniProtKB
    21. signal transduction Source: ProtInc
    22. transcription, DNA-templated Source: UniProtKB
    23. transcription initiation from RNA polymerase II promoter Source: Reactome
    24. transport Source: ProtInc

    Keywords - Molecular functioni

    Activator, Receptor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Lipid-binding, Metal-binding, Steroid-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_15525. Nuclear Receptor transcription pathway.
    SignaLinkiP10275.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Androgen receptor
    Alternative name(s):
    Dihydrotestosterone receptor
    Nuclear receptor subfamily 3 group C member 4
    Gene namesi
    Name:AR
    Synonyms:DHTR, NR3C4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:644. AR.

    Subcellular locationi

    Nucleus. Cytoplasm
    Note: Predominantly cytoplasmic in unligated form but translocates to the nucleus upon ligand-binding. Can also translocate to the nucleus in unligated form in the presence of GNB2L1.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. nuclear chromatin Source: BHF-UCL
    3. nucleoplasm Source: Reactome
    4. nucleus Source: UniProtKB
    5. protein complex Source: MGI

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Androgen insensitivity syndrome (AIS) [MIM:300068]: An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype.71 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2 – 21E → K in PAIS. 1 Publication
    VAR_004679
    Natural varianti194 – 1941Q → R in AIS. 1 Publication
    VAR_009224
    Natural varianti214 – 2141G → R in AIS; 20% lower transactivation capacity. 1 Publication
    VAR_009715
    Natural varianti255 – 2551L → P in AIS. 1 Publication
    VAR_009225
    Natural varianti390 – 3901P → R in AIS. 1 Publication
    VAR_009226
    Natural varianti390 – 3901P → S in AIS.
    VAR_009227
    Natural varianti443 – 4431Q → R in AIS; might be a polymorphism. 1 Publication
    VAR_009228
    Natural varianti491 – 4911G → S in AIS.
    VAR_009719
    Natural varianti547 – 5471L → F in PAIS.
    VAR_009721
    Natural varianti548 – 5481P → S in AIS. 1 Publication
    VAR_009722
    Natural varianti559 – 5591C → Y in AIS. 1 Publication
    VAR_009723
    Natural varianti568 – 5681G → W in PAIS. 1 Publication
    VAR_009726
    Natural varianti571 – 5711Y → C in AIS. 1 Publication
    VAR_009727
    Natural varianti573 – 5731A → D in AIS; defective DNA binding and transactivation. 1 Publication
    VAR_009728
    Natural varianti576 – 5761C → F in AIS; lack of DNA binding.
    VAR_009731
    Natural varianti576 – 5761C → R in AIS. 1 Publication
    VAR_009732
    Natural varianti579 – 5791C → F in AIS; reduced transcription and DNA binding. 1 Publication
    VAR_009733
    Natural varianti579 – 5791C → Y in AIS.
    VAR_009734
    Natural varianti581 – 5811V → F in AIS. 2 Publications
    VAR_009736
    Natural varianti582 – 5821F → S in PAIS. 1 Publication
    VAR_009737
    Natural varianti582 – 5821F → Y in PAIS. 1 Publication
    VAR_009738
    Natural varianti582 – 5821Missing in AIS. 1 Publication
    VAR_009739
    Natural varianti585 – 5851R → K in AIS.
    VAR_009740
    Natural varianti596 – 5961A → T in AIS; abolishes dimerization. 2 Publications
    VAR_009743
    Natural varianti597 – 5971S → G in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors. 1 Publication
    VAR_009744
    Natural varianti601 – 6011C → F in AIS. 1 Publication
    VAR_009746
    Natural varianti604 – 6041D → Y in PAIS. 1 Publication
    VAR_009747
    Natural varianti607 – 6071R → Q in PAIS and breast cancer. 4 Publications
    VAR_004684
    Natural varianti608 – 6081R → K in PAIS and breast cancer; defective nuclear localization. 3 Publications
    VAR_004685
    Natural varianti610 – 6101N → T in PAIS. 1 Publication
    VAR_009748
    Natural varianti611 – 6111C → Y in AIS.
    VAR_009749
    Natural varianti615 – 6151R → H in AIS and PAIS. 4 Publications
    VAR_009751
    Natural varianti615 – 6151R → P in AIS.
    VAR_009752
    Natural varianti615 – 6151Missing in AIS. 1 Publication
    VAR_009750
    Natural varianti616 – 6161L → P in AIS. 1 Publication
    VAR_009753
    Natural varianti616 – 6161L → R in PAIS. 1 Publication
    VAR_009754
    Natural varianti617 – 6171R → P in AIS and PAIS; loss of DNA-binding activity; associated with G-597 in a PAIS patient. 2 Publications
    VAR_009755
    Natural varianti664 – 6641I → N in AIS and PAIS.
    VAR_004687
    Natural varianti671 – 6711P → H in PAIS.
    VAR_009762
    Natural varianti677 – 6771L → P in AIS. 1 Publication
    VAR_004688
    Natural varianti681 – 6811E → K in AIS. 2 Publications
    VAR_009764
    Natural varianti682 – 6821P → T in PAIS. 1 Publication
    VAR_013474
    Natural varianti684 – 6841V → I in AIS.
    VAR_009766
    Natural varianti686 – 6861C → R in PAIS.
    VAR_009767
    Natural varianti687 – 6871A → V in PAIS.
    VAR_009768
    Natural varianti688 – 6881G → E in AIS.
    VAR_009769
    Natural varianti690 – 6901Missing in PAIS. 1 Publication
    VAR_009770
    Natural varianti692 – 6921Missing in AIS.
    VAR_004689
    Natural varianti695 – 6951D → H in AIS. 1 Publication
    VAR_004690
    Natural varianti695 – 6951D → N in AIS; almost complete loss of androgen binding and transcription activation. 1 Publication
    VAR_004691
    Natural varianti695 – 6951D → V in AIS. 1 Publication
    VAR_004692
    Natural varianti700 – 7001L → M in AIS.
    VAR_009771
    Natural varianti701 – 7011L → F in AIS.
    VAR_009772
    Natural varianti701 – 7011L → H in AIS and prostate cancer. 3 Publications
    VAR_009773
    Natural varianti702 – 7021S → A in AIS.
    VAR_009774
    Natural varianti703 – 7031S → C in AIS.
    VAR_009775
    Natural varianti703 – 7031S → G in PAIS and AIS. 1 Publication
    VAR_004693
    Natural varianti705 – 7051N → S in AIS. 2 Publications
    VAR_009776
    Natural varianti705 – 7051N → Y in AIS. 1 Publication
    VAR_013475
    Natural varianti707 – 7071L → R in AIS. 1 Publication
    VAR_004694
    Natural varianti708 – 7081G → A in PAIS. 2 Publications
    VAR_009777
    Natural varianti708 – 7081G → V in AIS.
    VAR_009778
    Natural varianti710 – 7101R → T in AIS.
    VAR_009779
    Natural varianti711 – 7111Q → E in PAIS. 1 Publication
    VAR_013476
    Natural varianti712 – 7121L → F in PAIS.
    VAR_009780
    Natural varianti722 – 7221L → F in AIS.
    VAR_009785
    Natural varianti723 – 7231P → S in AIS.
    VAR_009786
    Natural varianti724 – 7241G → D in AIS and prostate cancer.
    VAR_009787
    Natural varianti727 – 7271N → K in AIS. 1 Publication
    VAR_009790
    Natural varianti728 – 7281L → S in PAIS.
    VAR_009791
    Natural varianti732 – 7321D → N in AIS. 1 Publication
    VAR_004696
    Natural varianti732 – 7321D → Y in AIS.
    VAR_004697
    Natural varianti733 – 7331Q → H in PAIS.
    VAR_009792
    Natural varianti737 – 7371I → T in PAIS. 1 Publication
    VAR_009793
    Natural varianti741 – 7411W → R in AIS. 1 Publication
    VAR_009794
    Natural varianti742 – 7421M → I in PAIS. 1 Publication
    VAR_004698
    Natural varianti742 – 7421M → V in PAIS. 1 Publication
    VAR_009795
    Natural varianti743 – 7431G → E in AIS. 1 Publication
    VAR_013477
    Natural varianti743 – 7431G → V in PAIS and AIS. 4 Publications
    VAR_004699
    Natural varianti744 – 7441L → F in AIS and prostate cancer.
    VAR_009796
    Natural varianti745 – 7451M → T in PAIS. 1 Publication
    VAR_009797
    Natural varianti746 – 7461V → M in PAIS.
    VAR_009798
    Natural varianti748 – 7481A → D in PAIS.
    VAR_009799
    Natural varianti749 – 7491M → V in PAIS and AIS. 3 Publications
    VAR_004700
    Natural varianti750 – 7501G → D in AIS; loss of androgen binding. 1 Publication
    VAR_004701
    Natural varianti751 – 7511W → R in AIS.
    VAR_009804
    Natural varianti752 – 7521R → Q in AIS. 2 Publications
    VAR_004702
    Natural varianti754 – 7541F → L in PAIS and prostate cancer. 2 Publications
    VAR_009805
    Natural varianti754 – 7541F → V in AIS. 2 Publications
    VAR_004703
    Natural varianti756 – 7561N → S in PAIS.
    VAR_009807
    Natural varianti758 – 7581N → T in PAIS; 50% reduction in transactivation. 1 Publication
    VAR_009809
    Natural varianti759 – 7591S → F in AIS. 1 Publication
    VAR_009810
    Natural varianti762 – 7621L → F in AIS; loss of androgen binding. 1 Publication
    VAR_004704
    Natural varianti763 – 7631Y → C in PAIS and prostate cancer; partial loss of androgen binding. 2 Publications
    VAR_004705
    Natural varianti763 – 7631Y → H in AIS. 1 Publication
    VAR_009812
    Natural varianti764 – 7641F → L in AIS. 1 Publication
    VAR_009813
    Natural varianti765 – 7651A → T in AIS; loss of androgen binding. 4 Publications
    VAR_004707
    Natural varianti765 – 7651A → V in AIS.
    VAR_009814
    Natural varianti766 – 7661P → S in AIS.
    VAR_009815
    Natural varianti767 – 7671D → E in AIS. 1 Publication
    VAR_009816
    Natural varianti768 – 7681L → P in AIS.
    VAR_009817
    Natural varianti771 – 7711N → H in PAIS. 1 Publication
    VAR_009818
    Natural varianti772 – 7721E → A in PAIS. 1 Publication
    VAR_009819
    Natural varianti772 – 7721E → G in PAIS. 1 Publication
    VAR_009820
    Natural varianti774 – 7741R → C in AIS; loss of androgen binding; frequent mutation. 5 Publications
    VAR_004709
    Natural varianti774 – 7741R → H in AIS and PAIS; almost complete loss of androgen binding. 3 Publications
    VAR_004708
    Natural varianti779 – 7791R → W in AIS. 3 Publications
    VAR_004710
    Natural varianti780 – 7801M → I in PAIS and AIS. 3 Publications
    VAR_004711
    Natural varianti784 – 7841C → Y in AIS; loss of androgen binding and of transactivation. 1 Publication
    VAR_004712
    Natural varianti787 – 7871M → V in AIS. 1 Publication
    VAR_004713
    Natural varianti788 – 7881R → S in AIS.
    VAR_009822
    Natural varianti790 – 7901L → F in AIS. 1 Publication
    VAR_009823
    Natural varianti794 – 7941F → S in AIS. 1 Publication
    VAR_004714
    Natural varianti798 – 7981Q → E in PAIS, AIS and prostate cancer; reduced transcription activation. 5 Publications
    VAR_004715
    Natural varianti806 – 8061C → Y in PAIS.
    VAR_009826
    Natural varianti807 – 8071M → R in AIS; loss of transactivation. 1 Publication
    VAR_004716
    Natural varianti807 – 8071M → T in PAIS. 1 Publication
    VAR_009827
    Natural varianti807 – 8071M → V in AIS; 25% androgen binding. 1 Publication
    VAR_004717
    Natural varianti812 – 8121L → F in AIS. 1 Publication
    VAR_009828
    Natural varianti814 – 8141S → N in AIS and PAIS.
    VAR_004718
    Natural varianti820 – 8201G → A in AIS. 1 Publication
    VAR_009829
    Natural varianti821 – 8211L → V in PAIS.
    VAR_009830
    Natural varianti827 – 8271F → V in PAIS. 1 Publication
    VAR_013478
    Natural varianti831 – 8311R → L in AIS. 1 Publication
    VAR_004719
    Natural varianti831 – 8311R → Q in AIS; loss of androgen binding. 3 Publications
    VAR_004720
    Natural varianti834 – 8341Y → C in AIS; loss of androgen binding. 1 Publication
    VAR_009832
    Natural varianti840 – 8401R → C in AIS. 3 Publications
    VAR_004721
    Natural varianti840 – 8401R → G in PAIS. 1 Publication
    VAR_004722
    Natural varianti840 – 8401R → H in AIS. 7 Publications
    VAR_004723
    Natural varianti840 – 8401R → S in PAIS. 1 Publication
    VAR_009229
    Natural varianti841 – 8411I → S in PAIS.
    VAR_009833
    Natural varianti842 – 8421I → T in AIS. 2 Publications
    VAR_004724
    Natural varianti854 – 8541R → K in PAIS.
    VAR_009835
    Natural varianti855 – 8551R → C in AIS. 5 Publications
    VAR_004725
    Natural varianti855 – 8551R → H in AIS; strongly reduced transcription activation. 4 Publications
    VAR_004726
    Natural varianti856 – 8561F → L in AIS.
    VAR_009836
    Natural varianti863 – 8631L → R in AIS.
    VAR_009837
    Natural varianti864 – 8641D → G in AIS. 1 Publication
    VAR_009838
    Natural varianti864 – 8641D → N in AIS; loss of androgen binding. 1 Publication
    VAR_004727
    Natural varianti865 – 8651S → P in AIS.
    VAR_009839
    Natural varianti866 – 8661V → E in AIS.
    VAR_004728
    Natural varianti866 – 8661V → L in PAIS. 3 Publications
    VAR_004729
    Natural varianti866 – 8661V → M in AIS and prostate cancer. 4 Publications
    VAR_004730
    Natural varianti869 – 8691I → M in PAIS. 2 Publications
    VAR_004731
    Natural varianti870 – 8701A → G in PAIS. 1 Publication
    VAR_009840
    Natural varianti870 – 8701A → V in PAIS. 1 Publication
    VAR_009841
    Natural varianti871 – 8711R → G in AIS. 1 Publication
    VAR_009842
    Natural varianti874 – 8741H → R in AIS. 1 Publication
    VAR_013479
    Natural varianti879 – 8791D → Y in AIS. 1 Publication
    VAR_013480
    Natural varianti881 – 8811L → V in AIS. 1 Publication
    VAR_009846
    Natural varianti886 – 8861M → V in AIS.
    VAR_009847
    Natural varianti889 – 8891V → M in AIS and PAIS. 2 Publications
    VAR_009848
    Natural varianti892 – 8921P → L in AIS. 3 Publications
    VAR_004733
    Natural varianti895 – 8951M → T in AIS; low androgen binding and transactivation. 1 Publication
    VAR_004734
    Natural varianti898 – 8981I → T in AIS.
    VAR_009852
    Natural varianti903 – 9031V → M in PAIS.
    VAR_009854
    Natural varianti904 – 9041P → H in AIS.
    VAR_009855
    Natural varianti904 – 9041P → S in AIS.
    VAR_009856
    Natural varianti907 – 9071L → F in AIS; almost complete loss of transcription activation. 1 Publication
    VAR_004735
    Natural varianti909 – 9091G → R in PAIS. 1 Publication
    VAR_009858
    Natural varianti911 – 9111V → L in PAIS. 1 Publication
    VAR_009860
    Natural varianti913 – 9131P → S in PAIS.
    VAR_004736
    Natural varianti916 – 9161F → L in AIS. 1 Publication
    VAR_009861
    Natural varianti917 – 9171H → R in AIS.
    VAR_009862
    Spinal and bulbar muscular atrophy X-linked 1 (SMAX1) [MIM:313200]: An X-linked recessive form of spinal muscular atrophy. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAX1 occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. It is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia. The disorder is clinically similar to classic forms of autosomal spinal muscular atrophy.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry. Caused by trinucleotide CAG repeat expansion. In SMAX1 patients the number of Gln ranges from 38 to 62. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.
    Defects in AR may play a role in metastatic prostate cancer. The mutated receptor stimulates prostate growth and metastases development despite of androgen ablation. This treatment can reduce primary and metastatic lesions probably by inducing apoptosis of tumor cells when they express the wild-type receptor.
    Androgen insensitivity, partial (PAIS) [MIM:312300]: A disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations.41 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti2 – 21E → K in PAIS. 1 Publication
    VAR_004679
    Natural varianti547 – 5471L → F in PAIS.
    VAR_009721
    Natural varianti568 – 5681G → W in PAIS. 1 Publication
    VAR_009726
    Natural varianti582 – 5821F → S in PAIS. 1 Publication
    VAR_009737
    Natural varianti582 – 5821F → Y in PAIS. 1 Publication
    VAR_009738
    Natural varianti597 – 5971S → G in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors. 1 Publication
    VAR_009744
    Natural varianti604 – 6041D → Y in PAIS. 1 Publication
    VAR_009747
    Natural varianti607 – 6071R → Q in PAIS and breast cancer. 4 Publications
    VAR_004684
    Natural varianti608 – 6081R → K in PAIS and breast cancer; defective nuclear localization. 3 Publications
    VAR_004685
    Natural varianti610 – 6101N → T in PAIS. 1 Publication
    VAR_009748
    Natural varianti615 – 6151R → H in AIS and PAIS. 4 Publications
    VAR_009751
    Natural varianti616 – 6161L → R in PAIS. 1 Publication
    VAR_009754
    Natural varianti617 – 6171R → P in AIS and PAIS; loss of DNA-binding activity; associated with G-597 in a PAIS patient. 2 Publications
    VAR_009755
    Natural varianti664 – 6641I → N in AIS and PAIS.
    VAR_004687
    Natural varianti671 – 6711P → H in PAIS.
    VAR_009762
    Natural varianti682 – 6821P → T in PAIS. 1 Publication
    VAR_013474
    Natural varianti686 – 6861C → R in PAIS.
    VAR_009767
    Natural varianti687 – 6871A → V in PAIS.
    VAR_009768
    Natural varianti690 – 6901Missing in PAIS. 1 Publication
    VAR_009770
    Natural varianti703 – 7031S → G in PAIS and AIS. 1 Publication
    VAR_004693
    Natural varianti708 – 7081G → A in PAIS. 2 Publications
    VAR_009777
    Natural varianti711 – 7111Q → E in PAIS. 1 Publication
    VAR_013476
    Natural varianti712 – 7121L → F in PAIS.
    VAR_009780
    Natural varianti728 – 7281L → S in PAIS.
    VAR_009791
    Natural varianti733 – 7331Q → H in PAIS.
    VAR_009792
    Natural varianti737 – 7371I → T in PAIS. 1 Publication
    VAR_009793
    Natural varianti742 – 7421M → I in PAIS. 1 Publication
    VAR_004698
    Natural varianti742 – 7421M → V in PAIS. 1 Publication
    VAR_009795
    Natural varianti743 – 7431G → V in PAIS and AIS. 4 Publications
    VAR_004699
    Natural varianti745 – 7451M → T in PAIS. 1 Publication
    VAR_009797
    Natural varianti746 – 7461V → M in PAIS.
    VAR_009798
    Natural varianti748 – 7481A → D in PAIS.
    VAR_009799
    Natural varianti749 – 7491M → V in PAIS and AIS. 3 Publications
    VAR_004700
    Natural varianti754 – 7541F → L in PAIS and prostate cancer. 2 Publications
    VAR_009805
    Natural varianti756 – 7561N → S in PAIS.
    VAR_009807
    Natural varianti758 – 7581N → T in PAIS; 50% reduction in transactivation. 1 Publication
    VAR_009809
    Natural varianti763 – 7631Y → C in PAIS and prostate cancer; partial loss of androgen binding. 2 Publications
    VAR_004705
    Natural varianti771 – 7711N → H in PAIS. 1 Publication
    VAR_009818
    Natural varianti772 – 7721E → A in PAIS. 1 Publication
    VAR_009819
    Natural varianti772 – 7721E → G in PAIS. 1 Publication
    VAR_009820
    Natural varianti774 – 7741R → H in AIS and PAIS; almost complete loss of androgen binding. 3 Publications
    VAR_004708
    Natural varianti780 – 7801M → I in PAIS and AIS. 3 Publications
    VAR_004711
    Natural varianti798 – 7981Q → E in PAIS, AIS and prostate cancer; reduced transcription activation. 5 Publications
    VAR_004715
    Natural varianti806 – 8061C → Y in PAIS.
    VAR_009826
    Natural varianti807 – 8071M → T in PAIS. 1 Publication
    VAR_009827
    Natural varianti814 – 8141S → N in AIS and PAIS.
    VAR_004718
    Natural varianti821 – 8211L → V in PAIS.
    VAR_009830
    Natural varianti827 – 8271F → V in PAIS. 1 Publication
    VAR_013478
    Natural varianti840 – 8401R → G in PAIS. 1 Publication
    VAR_004722
    Natural varianti840 – 8401R → S in PAIS. 1 Publication
    VAR_009229
    Natural varianti841 – 8411I → S in PAIS.
    VAR_009833
    Natural varianti854 – 8541R → K in PAIS.
    VAR_009835
    Natural varianti866 – 8661V → L in PAIS. 3 Publications
    VAR_004729
    Natural varianti869 – 8691I → M in PAIS. 2 Publications
    VAR_004731
    Natural varianti870 – 8701A → G in PAIS. 1 Publication
    VAR_009840
    Natural varianti870 – 8701A → V in PAIS. 1 Publication
    VAR_009841
    Natural varianti889 – 8891V → M in AIS and PAIS. 2 Publications
    VAR_009848
    Natural varianti903 – 9031V → M in PAIS.
    VAR_009854
    Natural varianti909 – 9091G → R in PAIS. 1 Publication
    VAR_009858
    Natural varianti911 – 9111V → L in PAIS. 1 Publication
    VAR_009860
    Natural varianti913 – 9131P → S in PAIS.
    VAR_004736

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi81 – 811S → A: Reduced cell growth. 1 Publication
    Mutagenesisi223 – 2231Y → F: Decrease of CSK-induced phosphorylation. 1 Publication
    Mutagenesisi267 – 2671Y → F: Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-363. 2 Publications
    Mutagenesisi307 – 3071Y → F: Decrease of CSK-induced phosphorylation. 1 Publication
    Mutagenesisi346 – 3461Y → F: Decrease of CSK-induced phosphorylation. 1 Publication
    Mutagenesisi357 – 3571Y → F: Decrease of CSK-induced phosphorylation. 1 Publication
    Mutagenesisi362 – 3621Y → F: Decrease of CSK-induced phosphorylation. 1 Publication
    Mutagenesisi363 – 3631Y → F: Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-267. 2 Publications
    Mutagenesisi393 – 3931Y → F: Decrease of CSK-induced phosphorylation. 1 Publication
    Mutagenesisi534 – 5341Y → F: Greatest decrease of CSK-induced phosphorylation and inhibition of transcriptional activity induced by EGF. 1 Publication
    Mutagenesisi551 – 5511Y → F: Decrease in CSK-induced phosphorylation. 1 Publication
    Mutagenesisi701 – 7011L → A: Alters receptor specificity, so that transcription is activated by the antiandrogen cyproterone acetate. 1 Publication
    Mutagenesisi720 – 7201K → A: Loss of transcription activation in the presence of androgen and of interaction with NCOA2. 2 Publications
    Mutagenesisi741 – 7411W → L: Strongly decreased transcription activation in the presence of androgen. 1 Publication
    Mutagenesisi845 – 8451K → R: Prevents ubiquitination by RNF6. Prevents AR transcriptional activation by RNF14 in absence of hormone. 1 Publication