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Entry version 271 (10 Apr 2019)
Sequence version 3 (16 Mar 2016)
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Protein

Androgen receptor

Gene

AR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 like ZBTB7A that recruits NCOR1 and NCOR2 to the androgen response elements/ARE on target genes, negatively regulating androgen receptor signaling and androgen-induced cell proliferation (PubMed:20812024). Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3.9 Publications
Isoform 3 and isoform 4 lack the C-terminal ligand-binding domain and may therefore constitutively activate the transcription of a specific set of genes independently of steroid hormones.1 Publication

Miscellaneous

In the absence of ligand, steroid hormone receptors are thought to be weakly associated with nuclear components; hormone binding greatly increases receptor affinity. The hormone-receptor complex appears to recognize discrete DNA sequences upstream of transcriptional start sites.
Transcriptional activity is enhanced by binding to RANBP9.
The level of tyrosine phosphorylation may serve as a diagnostic tool to predict patient outcome in response to hormone-ablation therapy. Inhibition of tyrosine phosphorylation may be an effective intervention target for hormone-refractory prostate cancer.

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

AIM-100 (4-amino-5,6-biaryl-furo[2,3-d]pyrimidine) suppresses TNK2-mediated phosphorylation at Tyr-269. Inhibits the binding of the Tyr-269 phosphorylated form to androgen-responsive enhancers (AREs) and its transcriptional activity.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei706AndrogenCombined sources4 Publications1
Binding sitei753AndrogenCombined sources4 Publications1
Binding sitei878AndrogenCombined sources4 Publications1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi560 – 632Nuclear receptorPROSITE-ProRule annotationAdd BLAST73
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri560 – 580NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri596 – 620NR C4-typePROSITE-ProRule annotationAdd BLAST25

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding, Receptor
Biological processTranscription, Transcription regulation
LigandLipid-binding, Metal-binding, Steroid-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-3371497 HSP90 chaperone cycle for steroid hormone receptors (SHR)
R-HSA-383280 Nuclear Receptor transcription pathway
R-HSA-4090294 SUMOylation of intracellular receptors
R-HSA-5625886 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
R-HSA-5689880 Ub-specific processing proteases
R-HSA-8940973 RUNX2 regulates osteoblast differentiation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P10275

SIGNOR Signaling Network Open Resource

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SIGNORi
P10275

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
P10275 Predicted

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001553

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Androgen receptor
Alternative name(s):
Dihydrotestosterone receptor
Nuclear receptor subfamily 3 group C member 4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AR
Synonyms:DHTR, NR3C4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000169083.15

Human Gene Nomenclature Database

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HGNCi
HGNC:644 AR

Online Mendelian Inheritance in Man (OMIM)

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MIMi
313700 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P10275

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Androgen insensitivity syndrome (AIS)74 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:300068
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_009224196Q → R in AIS. 1 Publication1
Natural variantiVAR_009225257L → P in AIS. 1 Publication1
Natural variantiVAR_009226392P → R in AIS. 1 PublicationCorresponds to variant dbSNP:rs773996740Ensembl.1
Natural variantiVAR_009227392P → S in AIS. Corresponds to variant dbSNP:rs201934623EnsemblClinVar.1
Natural variantiVAR_009228445Q → R in AIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1355285524Ensembl.1
Natural variantiVAR_009719492G → S in AIS. 1
Natural variantiVAR_009722549P → S in AIS. 1 PublicationCorresponds to variant dbSNP:rs137852588EnsemblClinVar.1
Natural variantiVAR_009723560C → Y in AIS. 1 Publication1
Natural variantiVAR_009727572Y → C in AIS. 1 Publication1
Natural variantiVAR_009728574A → D in AIS. 1
Natural variantiVAR_009731577C → F in AIS. 1 Publication1
Natural variantiVAR_009732577C → R in AIS. 1 Publication1
Natural variantiVAR_009733580C → F in AIS; reduced transcription and DNA binding. 1 PublicationCorresponds to variant dbSNP:rs137852586EnsemblClinVar.1
Natural variantiVAR_009734580C → Y in AIS. 1
Natural variantiVAR_009736582V → F in AIS. 2 Publications1
Natural variantiVAR_009739583Missing in AIS. 1 Publication1
Natural variantiVAR_009740586R → K in AIS. 1
Natural variantiVAR_009743597A → T in AIS; abolishes dimerization. 2 PublicationsCorresponds to variant dbSNP:rs137852569EnsemblClinVar.1
Natural variantiVAR_009746602C → F in AIS. 1 Publication1
Natural variantiVAR_009749612C → Y in AIS. 1
Natural variantiVAR_009751616R → H in AIS and PAIS. 4 PublicationsCorresponds to variant dbSNP:rs754201976EnsemblClinVar.1
Natural variantiVAR_009752616R → P in AIS. 1
Natural variantiVAR_009750616Missing in AIS. 1 Publication1
Natural variantiVAR_009753617L → P in AIS. 1 Publication1
Natural variantiVAR_009755618R → P in AIS and PAIS; associated with G-598 in a PAIS patient; loss of DNA-binding activity. 2 Publications1
Natural variantiVAR_004687665I → N in AIS and PAIS. 1
Natural variantiVAR_004688678L → P in AIS. 1 PublicationCorresponds to variant dbSNP:rs137852579EnsemblClinVar.1
Natural variantiVAR_009764682E → K in AIS. 2 Publications1
Natural variantiVAR_009766685V → I in AIS. 1
Natural variantiVAR_009769689G → E in AIS. 1
Natural variantiVAR_004689693Missing in AIS. 1
Natural variantiVAR_004690696D → H in AIS. 1 Publication1
Natural variantiVAR_004691696D → N in AIS; almost complete loss of androgen binding and transcription activation. 2 Publications1
Natural variantiVAR_004692696D → V in AIS. 1 Publication1
Natural variantiVAR_009771701L → M in AIS. 1
Natural variantiVAR_009772702L → F in AIS. 1
Natural variantiVAR_009773702L → H in AIS and prostate cancer. 3 PublicationsCorresponds to variant dbSNP:rs864622007EnsemblClinVar.1
Natural variantiVAR_009774703S → A in AIS. 1
Natural variantiVAR_009775704S → C in AIS. 1
Natural variantiVAR_004693704S → G in PAIS and AIS. 1 Publication1
Natural variantiVAR_009776706N → S in AIS. 2 Publications1
Natural variantiVAR_013475706N → Y in AIS. 1 Publication1
Natural variantiVAR_004694708L → R in AIS. 1 PublicationCorresponds to variant dbSNP:rs137852585EnsemblClinVar.1
Natural variantiVAR_009778709G → V in AIS. 1
Natural variantiVAR_009779711R → T in AIS. 1
Natural variantiVAR_009785723L → F in AIS. 1
Natural variantiVAR_009786724P → S in AIS. 1
Natural variantiVAR_009787725G → D in AIS and prostate cancer. 1
Natural variantiVAR_009790728N → K in AIS. 1 PublicationCorresponds to variant dbSNP:rs768869912Ensembl.1
Natural variantiVAR_004696733D → N in AIS. 1 Publication1
Natural variantiVAR_004697733D → Y in AIS. 1
Natural variantiVAR_009794742W → R in AIS. 1 Publication1
Natural variantiVAR_013477744G → E in AIS. 1 PublicationCorresponds to variant dbSNP:rs137852600EnsemblClinVar.1
Natural variantiVAR_004699744G → V in PAIS and AIS. 4 PublicationsCorresponds to variant dbSNP:rs137852600EnsemblClinVar.1
Natural variantiVAR_009796745L → F in AIS and prostate cancer. 1
Natural variantiVAR_004700750M → V in PAIS and AIS. 3 PublicationsCorresponds to variant dbSNP:rs1085307685EnsemblClinVar.1
Natural variantiVAR_004701751G → D in AIS; loss of androgen binding. 1 Publication1
Natural variantiVAR_009804752W → R in AIS. 1
Natural variantiVAR_004702753R → Q in AIS. 2 Publications1
Natural variantiVAR_004703755F → V in AIS. 2 Publications1
Natural variantiVAR_009810760S → F in AIS. 1 Publication1
Natural variantiVAR_004704763L → F in AIS; loss of androgen binding. 1 Publication1
Natural variantiVAR_009812764Y → H in AIS. 1 Publication1
Natural variantiVAR_009813765F → L in AIS. 1 Publication1
Natural variantiVAR_004707766A → T in AIS; loss of androgen binding. 4 Publications1
Natural variantiVAR_009814766A → V in AIS. 1
Natural variantiVAR_009815767P → S in AIS. 1
Natural variantiVAR_009816768D → E in AIS. 1 Publication1
Natural variantiVAR_009817769L → P in AIS. 1
Natural variantiVAR_004709775R → C in AIS; frequent mutation; loss of androgen binding. 5 PublicationsCorresponds to variant dbSNP:rs137852562EnsemblClinVar.1
Natural variantiVAR_004708775R → H in AIS and PAIS; almost complete loss of androgen binding. 4 PublicationsCorresponds to variant dbSNP:rs137852572EnsemblClinVar.1
Natural variantiVAR_004710780R → W in AIS. 3 Publications1
Natural variantiVAR_004711781M → I in PAIS and AIS. 3 PublicationsCorresponds to variant dbSNP:rs137852589EnsemblClinVar.1
Natural variantiVAR_004712785C → Y in AIS; loss of androgen binding and of transactivation. 1 Publication1
Natural variantiVAR_004713788M → V in AIS. 1 PublicationCorresponds to variant dbSNP:rs137852570EnsemblClinVar.1
Natural variantiVAR_009822789R → S in AIS. Corresponds to variant dbSNP:rs1254203917Ensembl.1
Natural variantiVAR_009823791L → F in AIS. 1 Publication1
Natural variantiVAR_004714795F → S in AIS. 1 Publication1
Natural variantiVAR_004716808M → R in AIS; loss of transactivation. 1 Publication1
Natural variantiVAR_004717808M → V in AIS; 25% androgen binding. 1 Publication1
Natural variantiVAR_009828813L → F in AIS. 1 Publication1
Natural variantiVAR_004718815S → N in AIS and PAIS. 1
Natural variantiVAR_009829821G → A in AIS. 1 Publication1
Natural variantiVAR_004719832R → L in AIS. 1 Publication1
Natural variantiVAR_004720832R → Q in AIS; loss of androgen binding. 3 PublicationsCorresponds to variant dbSNP:rs1386577803EnsemblClinVar.1
Natural variantiVAR_009832835Y → C in AIS; loss of androgen binding. 1 PublicationCorresponds to variant dbSNP:rs1057521122EnsemblClinVar.1
Natural variantiVAR_004721841R → C in AIS. 3 PublicationsCorresponds to variant dbSNP:rs137852577EnsemblClinVar.1
Natural variantiVAR_004723841R → H in AIS. 7 PublicationsCorresponds to variant dbSNP:rs9332969EnsemblClinVar.1
Natural variantiVAR_004724843I → T in AIS. 2 PublicationsCorresponds to variant dbSNP:rs9332970Ensembl.1
Natural variantiVAR_004725856R → C in AIS. 5 PublicationsCorresponds to variant dbSNP:rs886041132EnsemblClinVar.1
Natural variantiVAR_004726856R → H in AIS; strongly reduced transcription activation. 5 PublicationsCorresponds to variant dbSNP:rs9332971EnsemblClinVar.1
Natural variantiVAR_009836857F → L in AIS. Corresponds to variant dbSNP:rs137852598EnsemblClinVar.1
Natural variantiVAR_009837864L → R in AIS. 1
Natural variantiVAR_009838865D → G in AIS. 1 Publication1
Natural variantiVAR_004727865D → N in AIS; loss of androgen binding. 1 Publication1
Natural variantiVAR_009839866S → P in AIS. Corresponds to variant dbSNP:rs137852597EnsemblClinVar.1
Natural variantiVAR_004728867V → E in AIS. 1
Natural variantiVAR_004730867V → M in AIS and prostate cancer. 4 PublicationsCorresponds to variant dbSNP:rs137852564EnsemblClinVar.1
Natural variantiVAR_009842872R → G in AIS. 1 Publication1
Natural variantiVAR_013479875H → R in AIS. 1 Publication1
Natural variantiVAR_013480880D → Y in AIS. 1 Publication1
Natural variantiVAR_009846882L → V in AIS. 1 Publication1
Natural variantiVAR_009847887M → V in AIS. Corresponds to variant dbSNP:rs755226547EnsemblClinVar.1
Natural variantiVAR_009848890V → M in AIS and PAIS. 2 PublicationsCorresponds to variant dbSNP:rs886041133EnsemblClinVar.1
Natural variantiVAR_004733893P → L in AIS. 3 Publications1
Natural variantiVAR_004734896M → T in AIS; low androgen binding and transactivation. 2 Publications1
Natural variantiVAR_009852899I → T in AIS. 1
Natural variantiVAR_009855905P → H in AIS. 1
Natural variantiVAR_009856905P → S in AIS. 1
Natural variantiVAR_004735908L → F in AIS; almost complete loss of transcription activation. 2 Publications1
Natural variantiVAR_009861917F → L in AIS. 1 Publication1
Natural variantiVAR_009862918H → R in AIS. 1
Spinal and bulbar muscular atrophy X-linked 1 (SMAX1)1 Publication
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.
Disease descriptionAn 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.
See also OMIM:313200
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.10 Publications
Androgen insensitivity, partial (PAIS)42 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:312300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0046792E → K in PAIS. 1 PublicationCorresponds to variant dbSNP:rs104894742EnsemblClinVar.1
Natural variantiVAR_009721548L → F in PAIS. Corresponds to variant dbSNP:rs139524801Ensembl.1
Natural variantiVAR_009726569G → W in PAIS. 1 Publication1
Natural variantiVAR_009737583F → S in PAIS. 1 Publication1
Natural variantiVAR_009738583F → Y in PAIS. 1 PublicationCorresponds to variant dbSNP:rs137852587EnsemblClinVar.1
Natural variantiVAR_009744598S → G in PAIS; associated with P-618 in a PAIS patient; normal androgen binding; does not activate transcription; impairs DNA binding. 1 PublicationCorresponds to variant dbSNP:rs142280455Ensembl.1
Natural variantiVAR_009747605D → Y in PAIS. 1 Publication1
Natural variantiVAR_004684608R → Q in PAIS and breast cancer. 4 PublicationsCorresponds to variant dbSNP:rs137852573EnsemblClinVar.1
Natural variantiVAR_004685609R → K in PAIS and breast cancer; defective nuclear localization. 3 PublicationsCorresponds to variant dbSNP:rs137852576EnsemblClinVar.1
Natural variantiVAR_009748611N → T in PAIS. 1 Publication1
Natural variantiVAR_009751616R → H in AIS and PAIS. 4 PublicationsCorresponds to variant dbSNP:rs754201976EnsemblClinVar.1
Natural variantiVAR_009754617L → R in PAIS. 1 Publication1
Natural variantiVAR_009755618R → P in AIS and PAIS; associated with G-598 in a PAIS patient; loss of DNA-binding activity. 2 Publications1
Natural variantiVAR_004687665I → N in AIS and PAIS. 1
Natural variantiVAR_009762672P → H in PAIS. 1
Natural variantiVAR_013474683P → T in PAIS. 1 Publication1
Natural variantiVAR_009767687C → R in PAIS. 1
Natural variantiVAR_009768688A → V in PAIS. 1
Natural variantiVAR_009770691Missing in PAIS. 1 Publication1
Natural variantiVAR_004693704S → G in PAIS and AIS. 1 Publication1
Natural variantiVAR_009777709G → A in PAIS. 2 Publications1
Natural variantiVAR_013476712Q → E in PAIS. 1 Publication1
Natural variantiVAR_009780713L → F in PAIS. Corresponds to variant dbSNP:rs137852595EnsemblClinVar.1
Natural variantiVAR_009791729L → S in PAIS. 1
Natural variantiVAR_009792734Q → H in PAIS. 1
Natural variantiVAR_009793738I → T in PAIS. 1 Publication1
Natural variantiVAR_004698743M → I in PAIS. 1 Publication1
Natural variantiVAR_009795743M → V in PAIS. 1 Publication1
Natural variantiVAR_004699744G → V in PAIS and AIS. 4 PublicationsCorresponds to variant dbSNP:rs137852600EnsemblClinVar.1
Natural variantiVAR_009797746M → T in PAIS. 1 Publication1
Natural variantiVAR_009798747V → M in PAIS. 1
Natural variantiVAR_009799749A → D in PAIS. 1
Natural variantiVAR_004700750M → V in PAIS and AIS. 3 PublicationsCorresponds to variant dbSNP:rs1085307685EnsemblClinVar.1
Natural variantiVAR_009805755F → L in PAIS and prostate cancer. 2 Publications1
Natural variantiVAR_009807757N → S in PAIS. Corresponds to variant dbSNP:rs141425171Ensembl.1
Natural variantiVAR_009809759N → T in PAIS; 50% reduction in transactivation. 1 Publication1
Natural variantiVAR_004705764Y → C in PAIS and prostate cancer; partial loss of androgen binding. 3 PublicationsCorresponds to variant dbSNP:rs137852567EnsemblClinVar.1
Natural variantiVAR_009818772N → H in PAIS. 1 PublicationCorresponds to variant dbSNP:rs886041352EnsemblClinVar.1
Natural variantiVAR_009819773E → A in PAIS. 1 Publication1
Natural variantiVAR_009820773E → G in PAIS. 1 Publication1
Natural variantiVAR_004708775R → H in AIS and PAIS; almost complete loss of androgen binding. 4 PublicationsCorresponds to variant dbSNP:rs137852572EnsemblClinVar.1
Natural variantiVAR_004711781M → I in PAIS and AIS. 3 PublicationsCorresponds to variant dbSNP:rs137852589EnsemblClinVar.1
Natural variantiVAR_004715799Q → E in PAIS, AIS and prostate cancer; reduced transcription activation. 6 PublicationsCorresponds to variant dbSNP:rs137852591EnsemblClinVar.1
Natural variantiVAR_009826807C → Y in PAIS. Corresponds to variant dbSNP:rs1064793480EnsemblClinVar.1
Natural variantiVAR_009827808M → T in PAIS. 1 PublicationCorresponds to variant dbSNP:rs137852592EnsemblClinVar.1
Natural variantiVAR_004718815S → N in AIS and PAIS. 1
Natural variantiVAR_009830822L → V in PAIS. 1
Natural variantiVAR_013478828F → V in PAIS. 1 Publication1
Natural variantiVAR_004722841R → G in PAIS. 1 Publication1
Natural variantiVAR_009229841R → S in PAIS. 1 Publication1
Natural variantiVAR_009833842I → S in PAIS. 1
Natural variantiVAR_009835855R → K in PAIS. 1
Natural variantiVAR_004729867V → L in PAIS. 3 PublicationsCorresponds to variant dbSNP:rs137852564EnsemblClinVar.1
Natural variantiVAR_004731870I → M in PAIS. 2 PublicationsCorresponds to variant dbSNP:rs137852574EnsemblClinVar.1
Natural variantiVAR_009840871A → G in PAIS. 1 Publication1
Natural variantiVAR_009841871A → V in PAIS. 1 PublicationCorresponds to variant dbSNP:rs143040492EnsemblClinVar.1
Natural variantiVAR_009848890V → M in AIS and PAIS. 2 PublicationsCorresponds to variant dbSNP:rs886041133EnsemblClinVar.1
Natural variantiVAR_009854904V → M in PAIS. 1
Natural variantiVAR_009858910G → R in PAIS. 1 Publication1
Natural variantiVAR_009860912V → L in PAIS. 1 Publication1
Natural variantiVAR_004736914P → S in PAIS. 1
Hypospadias 1, X-linked (HYSP1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common malformation in which the urethra opens on the ventral side of the penis, due to developmental arrest of urethral fusion. The opening can be located glandular, penile, or even more posterior in the scrotum or perineum. Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome and Opitz syndrome.
See also OMIM:300633

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi83S → A: Reduced cell growth. 1 Publication1
Mutagenesisi225Y → F: Decrease of CSK-induced phosphorylation. 1 Publication1
Mutagenesisi269Y → F: Decrease of CSK-induced phosphorylation and phosphorylation by TNK2. Complete loss of TNK2-dependent phosphorylation; when associated with F-365. 2 Publications1
Mutagenesisi309Y → F: Decrease of CSK-induced phosphorylation. 1 Publication1
Mutagenesisi348Y → F: Decrease of CSK-induced phosphorylation. 1 Publication1
Mutagenesisi359Y → F: Decrease of CSK-induced phosphorylation. 1 Publication1
Mutagenesisi364Y → F: Decrease of CSK-induced phosphorylation. 1 Publication