User:JonSDSUGrad/Sandbox/TEST5 AR

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androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
PDB rendering based on 1e3g.
Available structures: 1e3g, 1gs4, 1i37, 1i38, 1r4i, 1t5z, 1t63, 1t65, 1t73, 1t74, 1t76, 1t79, 1t7f, 1t7m, 1t7r, 1t7t, 1xj7, 1xnn, 1xow, 1xq3, 1z95, 2am9, 2ama, 2amb, 2ao6, 2ax6, 2ax7, 2ax8, 2ax9, 2axa, 2ihq, 2nw4, 2oz7
Identifiers
Symbol(s)	AR; AIS; DHTR; HUMARA; KD; NR3C4; SBMA; SMAX1; TFM
External IDs	OMIM: 313700 MGI: 88064 HomoloGene: 28
Gene ontology Molecular Function: • in utero embryonic development • transcription factor activity • receptor activity • androgen receptor activity • steroid binding • androgen binding • nucleus • cytoplasm • transcription • regulation of transcription, DNA-dependent • transport • signal transduction • cell-cell signaling • sex differentiation • zinc ion binding • cell proliferation • lipid binding • male gonad development • cell growth • male somatic sex determination • androgen receptor signaling pathway • prostate gland development • sequence-specific DNA binding • metal ion binding • protein dimerization activity
Orthologs
	Human	Mouse
Entrez	367	11835
Ensembl	ENSG00000169083	ENSMUSG00000046532
Uniprot	P10275	n/a
Refseq	NM_000044 (mRNA) NP_000035 (protein)	NM_013476 (mRNA) NP_038504 (protein)
Location	Chr X: 66.68 - 66.87 Mb	Chr X: 94.35 - 94.52 Mb
Pubmed search	[1]	[2]

[edit] 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.