LOCUS NP_000035 920 aa linear PRI 08-NOV-2023
DEFINITION androgen receptor isoform 1 [Homo sapiens].
ACCESSION NP_000035
VERSION NP_000035.2
DBSOURCE REFSEQ: accession NM_000044.6
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 920)
AUTHORS Yin L, Qi S and Zhu Z.
TITLE Advances in mitochondria-centered mechanism behind the roles of
androgens and androgen receptor in the regulation of glucose and
lipid metabolism
JOURNAL Front Endocrinol (Lausanne) 14, 1267170 (2023)
PUBMED 37900128
REMARK GeneRIF: Advances in mitochondria-centered mechanism behind the
roles of androgens and androgen receptor in the regulation of
glucose and lipid metabolism.
Review article
Publication Status: Online-Only
REFERENCE 2 (residues 1 to 920)
AUTHORS Yang X, Guo Z, Sun F, Li W, Alfano A, Shimelis H, Chen M, Brodie
AMH, Chen H, Xiao Z, Veenstra TD and Qiu Y.
TITLE Novel membrane-associated androgen receptor splice variant
potentiates proliferative and survival responses in prostate cancer
cells
JOURNAL J Biol Chem 286 (41), 36152-36160 (2011)
PUBMED 21878636
REMARK GeneRIF: the membrane-associated AR8 isoform may contribute to
castration resistance by potentiating AR-mediated proliferative and
survival responses to hormones and growth factors.
REFERENCE 3 (residues 1 to 920)
AUTHORS Watson PA, Chen YF, Balbas MD, Wongvipat J, Socci ND, Viale A, Kim
K and Sawyers CL.
TITLE Constitutively active androgen receptor splice variants expressed
in castration-resistant prostate cancer require full-length
androgen receptor
JOURNAL Proc Natl Acad Sci U S A 107 (39), 16759-16765 (2010)
PUBMED 20823238
REFERENCE 4 (residues 1 to 920)
AUTHORS Sun S, Sprenger CC, Vessella RL, Haugk K, Soriano K, Mostaghel EA,
Page ST, Coleman IM, Nguyen HM, Sun H, Nelson PS and Plymate SR.
TITLE Castration resistance in human prostate cancer is conferred by a
frequently occurring androgen receptor splice variant
JOURNAL J Clin Invest 120 (8), 2715-2730 (2010)
PUBMED 20644256
REFERENCE 5 (residues 1 to 920)
AUTHORS Guo Z, Yang X, Sun F, Jiang R, Linn DE, Chen H, Chen H, Kong X,
Melamed J, Tepper CG, Kung HJ, Brodie AM, Edwards J and Qiu Y.
TITLE A novel androgen receptor splice variant is up-regulated during
prostate cancer progression and promotes androgen
depletion-resistant growth
JOURNAL Cancer Res 69 (6), 2305-2313 (2009)
PUBMED 19244107
REFERENCE 6 (residues 1 to 920)
AUTHORS Hu R, Dunn TA, Wei S, Isharwal S, Veltri RW, Humphreys E, Han M,
Partin AW, Vessella RL, Isaacs WB, Bova GS and Luo J.
TITLE Ligand-independent androgen receptor variants derived from splicing
of cryptic exons signify hormone-refractory prostate cancer
JOURNAL Cancer Res 69 (1), 16-22 (2009)
PUBMED 19117982
REFERENCE 7 (residues 1 to 920)
AUTHORS Ahrens-Fath I, Politz O, Geserick C and Haendler B.
TITLE Androgen receptor function is modulated by the tissue-specific AR45
variant
JOURNAL FEBS J 272 (1), 74-84 (2005)
PUBMED 15634333
REMARK GeneRIF: data suggest an important role of AR45 in modulating AR
function and add a novel level of complexity to the mode of action
of androgens
REFERENCE 8 (residues 1 to 920)
AUTHORS Gottlieb,B. and Trifiro,M.A.
TITLE Androgen Insensitivity Syndrome
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301602
REFERENCE 9 (residues 1 to 920)
AUTHORS La Spada,A.
TITLE Spinal and Bulbar Muscular Atrophy
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301508
REFERENCE 10 (residues 1 to 920)
AUTHORS Wooster R, Mangion J, Eeles R, Smith S, Dowsett M, Averill D,
Barrett-Lee P, Easton DF, Ponder BA and Stratton MR.
TITLE A germline mutation in the androgen receptor gene in two brothers
with breast cancer and Reifenstein syndrome
JOURNAL Nat Genet 2 (2), 132-134 (1992)
PUBMED 1303262
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL049564.11, BC132975.1,
AF321915.1, M20132.1, AL356358.19 and AA505591.1.
This sequence is a reference standard in the RefSeqGene project.
On Jun 4, 2002 this sequence version replaced NP_000035.1.
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 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].
Transcript Variant: This variant (1, also known as AR-FL in
PMID:20823238) represents the longest transcript and encodes the
longest isoform (1).
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: M20132.1, BC132975.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1968189, SAMEA1968540
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000374690.9/ ENSP00000363822.3
RefSeq Select criteria :: based on conservation, expression
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..920
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq12"
Protein 1..920
/product="androgen receptor isoform 1"
/note="dihydrotestosterone receptor; nuclear receptor
subfamily 3 group C member 4"
/calculated_mol_wt=99057
Region 1..587
/region_name="Interaction with ZNF318.
/evidence=ECO:0000250|UniProtKB:P19091"
/note="propagated from UniProtKB/Swiss-Prot (P10275.3)"
Region 1..559
/region_name="Modulating"
/note="propagated from UniProtKB/Swiss-Prot (P10275.3)"
Region 6..449
/region_name="Androgen_recep"
/note="Androgen receptor; pfam02166"
/db_xref="CDD:426632"
Region 36..167
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (P10275.3)"
Site 83
/site_type="phosphorylation"
/note="Phosphoserine, by CDK9.
/evidence=ECO:0000269|PubMed:20980437; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Site 96
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:21406692,
ECO:0007744|PubMed:24275569; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Region 195..228
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (P10275.3)"
Site 225
/site_type="phosphorylation"
/note="Phosphotyrosine, by CSK.
/evidence=ECO:0000269|PubMed:17045208; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Site 258
/site_type="phosphorylation"
/note="Phosphoserine.
/evidence=ECO:0007744|PubMed:24275569; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Site 269
/site_type="phosphorylation"
/note="Phosphotyrosine, by CSK and TNK2.
/evidence=ECO:0000269|PubMed:17045208,
ECO:0000269|PubMed:17494760, ECO:0000269|PubMed:20623637;
propagated from UniProtKB/Swiss-Prot (P10275.3)"
Site 309
/site_type="phosphorylation"
/note="Phosphotyrosine, by CSK.
/evidence=ECO:0000269|PubMed:17045208; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Site 348
/site_type="phosphorylation"
/note="Phosphotyrosine, by CSK.
/evidence=ECO:0000269|PubMed:17045208; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Site 359
/site_type="phosphorylation"
/note="Phosphotyrosine, by CSK.
/evidence=ECO:0000269|PubMed:17045208; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Site 364
/site_type="phosphorylation"
/note="Phosphotyrosine, by CSK.
/evidence=ECO:0000269|PubMed:17045208; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Site 365
/site_type="phosphorylation"
/note="Phosphotyrosine, by CSK and TNK2.
/evidence=ECO:0000269|PubMed:17045208,
ECO:0000269|PubMed:17494760; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Site 395
/site_type="phosphorylation"
/note="Phosphotyrosine, by CSK.
/evidence=ECO:0000269|PubMed:17045208; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Site 535
/site_type="phosphorylation"
/note="Phosphotyrosine, by CSK.
/evidence=ECO:0000269|PubMed:17045208; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Region 552..919
/region_name="Interaction with LPXN.
/evidence=ECO:0000269|PubMed:18451096"
/note="propagated from UniProtKB/Swiss-Prot (P10275.3)"
Site 552
/site_type="phosphorylation"
/note="Phosphotyrosine, by CSK.
/evidence=ECO:0000269|PubMed:17045208; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Region 555..636
/region_name="NR_DBD_AR"
/note="DNA-binding domain of androgen receptor (AR) is
composed of two C4-type zinc fingers; cd07173"
/db_xref="CDD:143547"
Site order(560,563,577,580,596,602,612,615)
/site_type="other"
/note="zinc binding site [ion binding]"
/db_xref="CDD:143547"
Site order(569..572,579,581..582,585..586,594,609..610,613,616)
/site_type="DNA binding"
/note="DNA binding site [nucleotide binding]"
/db_xref="CDD:143547"
Region 572..662
/region_name="Interaction with HIPK3.
/evidence=ECO:0000250|UniProtKB:P15207"
/note="propagated from UniProtKB/Swiss-Prot (P10275.3)"
Region 592..919
/region_name="Interaction with CCAR1.
/evidence=ECO:0000269|PubMed:23887938"
/note="propagated from UniProtKB/Swiss-Prot (P10275.3)"
Site order(595..599,601..603,608,611)
/site_type="other"
/note="dimer interface [polypeptide binding]"
/db_xref="CDD:143547"
Region 625..919
/region_name="Interaction with KAT7.
/evidence=ECO:0000269|PubMed:10930412"
/note="propagated from UniProtKB/Swiss-Prot (P10275.3)"
Site 651
/site_type="phosphorylation"
/note="Phosphoserine, by STK4/MST1.
/evidence=ECO:0000269|PubMed:21512132; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Region 673..918
/region_name="NR_LBD_AR"
/note="Ligand binding domain of the nuclear receptor
androgen receptor, ligand activated transcription
regulator; cd07073"
/db_xref="CDD:132758"
Site order(702,705..706,708..709,712,742..743,746..747,750,753,
765,781,788,874,878)
/site_type="other"
/note="ligand binding site [chemical binding]"
/db_xref="CDD:132758"
Site order(714,717,721,727,731,735,739,894..895,898..899)
/site_type="other"
/note="coactivator recognition site [polypeptide binding]"
/db_xref="CDD:132758"
Site 721
/site_type="other"
/note="Interaction with coactivator LXXL and FXXFY motifs.
/evidence=ECO:0000269|PubMed:25091737; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
Site 898
/site_type="other"
/note="Interaction with coactivator FXXLF and FXXFY
motifs. /evidence=ECO:0000269|PubMed:25091737; propagated
from UniProtKB/Swiss-Prot (P10275.3)"
Site 916
/site_type="phosphorylation"
/note="Phosphotyrosine, by CSK.
/evidence=ECO:0000269|PubMed:17045208; propagated from
UniProtKB/Swiss-Prot (P10275.3)"
CDS 1..920
/gene="AR"
/gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
SBMA; SMAX1; TFM"
/coded_by="NM_000044.6:1127..3889"
/note="isoform 1 is encoded by transcript variant 1"
/db_xref="CCDS:CCDS14387.1"
/db_xref="GeneID:367"
/db_xref="HGNC:HGNC:644"
/db_xref="MIM:313700"
ORIGIN
1 mevqlglgrv yprppsktyr gafqnlfqsv reviqnpgpr hpeaasaapp gasllllqqq
61 qqqqqqqqqq qqqqqqqqqq etsprqqqqq qgedgspqah rrgptgylvl deeqqpsqpq
121 salechperg cvpepgaava askglpqqlp appdeddsaa pstlsllgpt fpglsscsad
181 lkdilseast mqllqqqqqe avsegsssgr areasgapts skdnylggts tisdnakelc
241 kavsvsmglg vealehlspg eqlrgdcmya pllgvppavr ptpcaplaec kgsllddsag
301 kstedtaeys pfkggytkgl egeslgcsgs aaagssgtle lpstlslyks galdeaaayq
361 srdyynfpla lagppppppp phpharikle npldygsawa aaaaqcrygd laslhgagaa
421 gpgsgspsaa assswhtlft aeegqlygpc gggggggggg gggggggggg gggeagavap
481 ygytrppqgl agqesdftap dvwypggmvs rvpypsptcv ksemgpwmds ysgpygdmrl
541 etardhvlpi dyyfppqktc licgdeasgc hygaltcgsc kvffkraaeg kqkylcasrn
601 dctidkfrrk ncpscrlrkc yeagmtlgar klkklgnlkl qeegeasstt spteettqkl
661 tvshiegyec qpiflnvlea iepgvvcagh dnnqpdsfaa llsslnelge rqlvhvvkwa
721 kalpgfrnlh vddqmaviqy swmglmvfam gwrsftnvns rmlyfapdlv fneyrmhksr
781 mysqcvrmrh lsqefgwlqi tpqeflcmka lllfsiipvd glknqkffde lrmnyikeld
841 riiackrknp tscsrrfyql tklldsvqpi arelhqftfd llikshmvsv dfpemmaeii
901 svqvpkilsg kvkpiyfhtq
//
