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P10275

- ANDR_HUMAN

UniProt

P10275 - ANDR_HUMAN

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Protein
Androgen receptor
Gene
AR, DHTR, NR3C4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 receptor
Add
BLAST
Zinc fingeri559 – 57921NR C4-type
Add
BLAST
Zinc fingeri595 – 61925NR C4-type
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. RNA polymerase II transcription factor binding Source: BHF-UCL
  3. androgen binding Source: UniProtKB
  4. androgen receptor activity Source: UniProtKB
  5. beta-catenin binding Source: BHF-UCL
  6. chromatin binding Source: UniProtKB
  7. enzyme binding Source: UniProtKB
  8. ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity Source: BHF-UCL
  9. protein binding Source: UniProtKB
  10. protein dimerization activity Source: UniProtKB
  11. receptor binding Source: UniProtKB
  12. sequence-specific DNA binding Source: InterPro
  13. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  14. transcription factor binding Source: BHF-UCL
  15. transcription regulatory region DNA binding Source: UniProtKB
  16. zinc ion binding Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. androgen receptor signaling pathway Source: UniProtKB
  2. cell death Source: UniProtKB-KW
  3. cell growth Source: UniProtKB
  4. cell proliferation Source: UniProtKB
  5. cell-cell signaling Source: ProtInc
  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 NF-kappaB transcription factor activity Source: BHF-UCL
  11. positive regulation of cell proliferation Source: BHF-UCL
  12. positive regulation of integrin biosynthetic process Source: BHF-UCL
  13. positive regulation of phosphorylation Source: BHF-UCL
  14. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  15. positive regulation of transcription from RNA polymerase III promoter Source: BHF-UCL
  16. positive regulation of transcription, DNA-templated 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 initiation from RNA polymerase II promoter Source: Reactome
  23. transcription, DNA-templated Source: UniProtKB
  24. transport Source: ProtInc
Complete GO annotation...

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 GNB2L1.4 Publications

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.73 Publications
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. 2 Publications
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. 3 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. 4 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. 6 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. 5 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. 2 Publications
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. 2 Publications
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.
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.1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.43 Publications
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. 3 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. 4 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. 6 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
Mutagenesisi847 – 8471K → R: Partially prevents ubiquitination by RNF6. 1 Publication
Mutagenesisi897 – 8971E → A or Q: Reduced transcription activation in the presence of androgen. 2 Publications
Mutagenesisi897 – 8971E → K or R: Loss of transcription activation in the presence of androgen. 2 Publications
Mutagenesisi915 – 9151Y → F: Decrease in CSK-induced phosphorylation. 1 Publication

Keywords - Diseasei

Disease mutation, Neurodegeneration, Pseudohermaphroditism

Organism-specific databases

MIMi300068. phenotype.
312300. phenotype.
313200. phenotype.
Orphaneti99429. Complete androgen insensitivity syndrome.
440. Familial hypospadias.
481. Kennedy disease.
90797. Partial androgen insensitivity syndrome.
PharmGKBiPA57.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 919919Androgen receptor
PRO_0000053704Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei81 – 811Phosphoserine; by CDK91 Publication
Modified residuei94 – 941Phosphoserine1 Publication
Modified residuei223 – 2231Phosphotyrosine; by CSK1 Publication
Modified residuei267 – 2671Phosphotyrosine; by CSK and TNK23 Publications