Homo sapiens Gene: AR
Summary
InnateDB Gene IDBG-73722.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AR
Gene Name androgen receptor
Synonyms AIS; DHTR; HUMARA; HYSP1; KD; NR3C4; SBMA; SMAX1; TFM
Species Homo sapiens
Ensembl Gene ENSG00000169083
Encoded Proteins
androgen receptor
androgen receptor
androgen receptor
androgen receptor
androgen receptor
androgen receptor
androgen receptor
androgen receptor
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:67544032-67730619
Strand Forward strand
Band q12
Transcripts
ENST00000374690 ENSP00000363822
ENST00000396044 ENSP00000379359
ENST00000396043 ENSP00000379358
ENST00000513847
ENST00000504326 ENSP00000421155
ENST00000514029 ENSP00000425199
ENST00000613054 ENSP00000479013
ENST00000612010 ENSP00000482407
ENST00000612452 ENSP00000484033
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 453 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Experimentally validated
Total 453 [view]
Protein-Protein 433 [view]
Protein-DNA 15 [view]
Protein-RNA 0
DNA-DNA 5 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 18 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001085 RNA polymerase II transcription factor binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003707 steroid hormone receptor activity
GO:0004879 ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0004882 androgen receptor activity
GO:0005102 receptor binding
GO:0005496 steroid binding
GO:0005497 androgen binding
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0008134 transcription factor binding
GO:0008270 zinc ion binding
GO:0019899 enzyme binding
GO:0019904 protein domain specific binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046983 protein dimerization activity
GO:0050681 androgen receptor binding
GO:0070974 POU domain binding
Biological Process
GO:0001701 in utero embryonic development
GO:0003073 regulation of systemic arterial blood pressure
GO:0003382 epithelial cell morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006810 transport
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0007283 spermatogenesis
GO:0007338 single fertilization
GO:0007548 sex differentiation
GO:0008219 cell death
GO:0008283 cell proliferation
GO:0008284 positive regulation of cell proliferation
GO:0008584 male gonad development
GO:0009566 fertilization
GO:0009987 cellular process
GO:0010467 gene expression
GO:0010468 regulation of gene expression
GO:0016049 cell growth
GO:0019102 male somatic sex determination
GO:0030521 androgen receptor signaling pathway
GO:0030522 intracellular receptor signaling pathway
GO:0030850 prostate gland development
GO:0032868 response to insulin
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:0043401 steroid hormone mediated signaling pathway
GO:0043410 positive regulation of MAPK cascade
GO:0043568 positive regulation of insulin-like growth factor receptor signaling pathway
GO:0045720 negative regulation of integrin biosynthetic process
GO:0045726 positive regulation of integrin biosynthetic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0045945 positive regulation of transcription from RNA polymerase III promoter
GO:0046661 male sex differentiation
GO:0048608 reproductive structure development
GO:0048638 regulation of developmental growth
GO:0048645 organ formation
GO:0048808 male genitalia morphogenesis
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050790 regulation of catalytic activity
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051259 protein oligomerization
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:0061458 reproductive system development
GO:0071383 cellular response to steroid hormone stimulus
GO:0072520 seminiferous tubule development
GO:0090003 regulation of establishment of protein localization to plasma membrane
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
Alpha6Beta4Integrin pathway
AndrogenReceptor pathway
TGF_beta_Receptor pathway
IL6 pathway
REACTOME
Nuclear Receptor transcription pathway pathway
Generic Transcription Pathway pathway
Gene Expression pathway
KEGG
Prostate cancer pathway
Pathways in cancer pathway
Oocyte meiosis pathway
INOH
PID NCI
Nongenotropic Androgen signaling
Coregulation of Androgen receptor activity
Notch-mediated HES/HEY network
Regulation of nuclear beta catenin signaling and target gene transcription
Regulation of nuclear SMAD2/3 signaling
Regulation of Androgen receptor activity
FOXA1 transcription factor network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.76704
RefSeq NM_000044 NM_001011645
HUGO
OMIM
CCDS CCDS14387 CCDS43965
HPRD 02437
IMGT
EMBL
GenPept
RNA Seq Atlas