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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes FDA approved drug targets Human disease related genes Nuclear receptors Plasma proteins Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
X
Cytoband
q12
Chromosome location (bp)
67544021 - 67730619
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues 1. 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 2. Transcription activation is also down-regulated by NR0B2. Activated, but not phosphorylated, by HIPK3 and ZIPK/DAPK3....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract from the normal 9-34 repeats to the pathogenic 38-62 repeats causes spinal bulbar muscular atrophy (SBMA, also known as Kennedy's disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Nuclear receptors Phobius predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of male genital organs Congenital malformations Congenital malformations of genital organs Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000165[MAPK cascade] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001091[RNA polymerase II general transcription initiation factor binding] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001701[in utero embryonic development] GO:0003073[regulation of systemic arterial blood pressure] GO:0003382[epithelial cell morphogenesis] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005102[signaling receptor binding] GO:0005496[steroid binding] GO:0005497[androgen binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0007165[signal transduction] GO:0007267[cell-cell signaling] GO:0007283[spermatogenesis] GO:0007338[single fertilization] GO:0008013[beta-catenin binding] GO:0008270[zinc ion binding] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008289[lipid binding] GO:0008584[male gonad development] GO:0009566[fertilization] GO:0010468[regulation of gene expression] GO:0010628[positive regulation of gene expression] GO:0016607[nuclear speck] GO:0019102[male somatic sex determination] GO:0019899[enzyme binding] GO:0030518[intracellular steroid hormone receptor signaling pathway] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0030521[androgen receptor signaling pathway] GO:0030522[intracellular receptor signaling pathway] GO:0032991[protein-containing complex] GO:0033148[positive regulation of intracellular estrogen receptor signaling pathway] GO:0033327[Leydig cell differentiation] GO:0035264[multicellular organism growth] GO:0042327[positive regulation of phosphorylation] GO:0043410[positive regulation of MAPK cascade] GO:0043565[sequence-specific DNA binding] GO:0043568[positive regulation of insulin-like growth factor receptor signaling pathway] GO:0045597[positive regulation of cell differentiation] GO:0045720[negative regulation of integrin biosynthetic process] GO:0045726[positive regulation of integrin biosynthetic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045945[positive regulation of transcription by RNA polymerase III] GO:0046872[metal ion binding] GO:0048009[insulin-like growth factor receptor signaling pathway] GO:0048608[reproductive structure development] GO:0048638[regulation of developmental growth] GO:0048645[animal organ formation] GO:0048808[male genitalia morphogenesis] GO:0050673[epithelial cell proliferation] GO:0050680[negative regulation of epithelial cell proliferation] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051117[ATPase binding] GO:0060090[molecular adaptor activity] GO:0060520[activation of prostate induction by androgen receptor signaling pathway] GO:0060571[morphogenesis of an epithelial fold] GO:0060599[lateral sprouting involved in mammary gland duct morphogenesis] GO:0060685[regulation of prostatic bud formation] GO:0060736[prostate gland growth] GO:0060740[prostate gland epithelium morphogenesis] GO:0060742[epithelial cell differentiation involved in prostate gland development] GO:0060748[tertiary branching involved in mammary gland duct morphogenesis] GO:0060749[mammary gland alveolus development] GO:0060769[positive regulation of epithelial cell proliferation involved in prostate gland development] GO:0061458[reproductive system development] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070974[POU domain binding] GO:0071383[cellular response to steroid hormone stimulus] GO:0071391[cellular response to estrogen stimulus] GO:0071394[cellular response to testosterone stimulus] GO:0072520[seminiferous tubule development] GO:1902895[positive regulation of miRNA transcription] GO:1903076[regulation of protein localization to plasma membrane] GO:2001237[negative regulation of extrinsic apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Cancers of male genital organs Congenital malformations Congenital malformations of genital organs Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of male genital organs Congenital malformations Congenital malformations of genital organs Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001091[RNA polymerase II general transcription initiation factor binding] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0004879[nuclear receptor activity] GO:0005102[signaling receptor binding] GO:0005496[steroid binding] GO:0005497[androgen binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007165[signal transduction] GO:0007267[cell-cell signaling] GO:0008013[beta-catenin binding] GO:0008270[zinc ion binding] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008289[lipid binding] GO:0008584[male gonad development] GO:0010628[positive regulation of gene expression] GO:0016607[nuclear speck] GO:0019899[enzyme binding] GO:0030518[intracellular steroid hormone receptor signaling pathway] GO:0030520[intracellular estrogen receptor signaling pathway] GO:0030521[androgen receptor signaling pathway] GO:0030522[intracellular receptor signaling pathway] GO:0032991[protein-containing complex] GO:0042327[positive regulation of phosphorylation] GO:0043565[sequence-specific DNA binding] GO:0045597[positive regulation of cell differentiation] GO:0045720[negative regulation of integrin biosynthetic process] GO:0045726[positive regulation of integrin biosynthetic process] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045945[positive regulation of transcription by RNA polymerase III] GO:0046872[metal ion binding] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051117[ATPase binding] GO:0060090[molecular adaptor activity] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0071383[cellular response to steroid hormone stimulus] GO:0071391[cellular response to estrogen stimulus] GO:0071394[cellular response to testosterone stimulus] GO:1902895[positive regulation of miRNA transcription] GO:1903076[regulation of protein localization to plasma membrane] GO:2001237[negative regulation of extrinsic apoptotic signaling pathway]
The Human Protein Atlas project is funded
