LOCUS       NM_001348063            2627 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens androgen receptor (AR), transcript variant 4, mRNA.
ACCESSION   NM_001348063
VERSION     NM_001348063.1
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2627)
  AUTHORS   Yang,Y., Huang,J.W. and Yu,W.W.
  TITLE     Androgen Receptor Promotes Lung Cancer Metastasis by Modifying the
            miR23a-3p/EPHB2 Pathway
  JOURNAL   Curr Med Sci 44 (5), 954-963 (2024)
   PUBMED   39390216
  REMARK    GeneRIF: Androgen Receptor Promotes Lung Cancer Metastasis by
            Modifying the miR23a-3p/EPHB2 Pathway.
REFERENCE   2  (bases 1 to 2627)
  AUTHORS   Yang,X., Guo,Z., Sun,F., Li,W., Alfano,A., Shimelis,H., Chen,M.,
            Brodie,A.M.H., Chen,H., Xiao,Z., Veenstra,T.D. 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  (bases 1 to 2627)
  AUTHORS   Watson,P.A., Chen,Y.F., Balbas,M.D., Wongvipat,J., Socci,N.D.,
            Viale,A., Kim,K. and Sawyers,C.L.
  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  (bases 1 to 2627)
  AUTHORS   Sun,S., Sprenger,C.C., Vessella,R.L., Haugk,K., Soriano,K.,
            Mostaghel,E.A., Page,S.T., Coleman,I.M., Nguyen,H.M., Sun,H.,
            Nelson,P.S. and Plymate,S.R.
  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  (bases 1 to 2627)
  AUTHORS   Guo,Z., Yang,X., Sun,F., Jiang,R., Linn,D.E., Chen,H., Chen,H.,
            Kong,X., Melamed,J., Tepper,C.G., Kung,H.J., Brodie,A.M.,
            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  (bases 1 to 2627)
  AUTHORS   Hu,R., Dunn,T.A., Wei,S., Isharwal,S., Veltri,R.W., Humphreys,E.,
            Han,M., Partin,A.W., Vessella,R.L., Isaacs,W.B., Bova,G.S. 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  (bases 1 to 2627)
  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  (bases 1 to 2627)
  AUTHORS   Gottlieb,B. and Trifiro,M.A.
  TITLE     Androgen Insensitivity Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301602
REFERENCE   9  (bases 1 to 2627)
  AUTHORS   La Spada,A.
  TITLE     Spinal and Bulbar Muscular Atrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301508
REFERENCE   10 (bases 1 to 2627)
  AUTHORS   Wooster,R., Mangion,J., Eeles,R., Smith,S., Dowsett,M., Averill,D.,
            Barrett-Lee,P., Easton,D.F., Ponder,B.A. and Stratton,M.R.
  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 M23263.1, BC132975.1,
            AF321915.1, FJ235917.1 and AL356358.19.
            
            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 (4, also known as AR-V1 in
            PMID:20823238 and AR4 in PMID:19244107) lacks multiple exons and
            includes an alternate 3' terminal exon, compared to variant 1. The
            encoded isoform (4) has a distinct and shorter C-terminus than
            isoform 1.
            
            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 :: FJ235917.1, FJ235918.1 [ECO:0000332]
            RNAseq introns              :: partial sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0000350]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-72                M23263.1           9-80
            73-694              BC132975.1         12-633
            695-1944            AF321915.1         249-1498
            1945-2518           FJ235917.1         1748-2321
            2519-2519           AL356358.19        39111-39111
            2520-2627           FJ235917.1         2323-2430
FEATURES             Location/Qualifiers
     source          1..2627
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq12"
     gene            1..2627
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="androgen receptor"
                     /db_xref="GeneID:367"
                     /db_xref="HGNC:HGNC:644"
                     /db_xref="MIM:313700"
     exon            1..2140
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /inference="alignment:Splign:2.1.0"
     CDS             525..2471
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /note="isoform 4 is encoded by transcript variant 4;
                     dihydrotestosterone receptor; nuclear receptor subfamily 3
                     group C member 4"
                     /codon_start=1
                     /product="androgen receptor isoform 4"
                     /protein_id="NP_001334992.1"
                     /db_xref="GeneID:367"
                     /db_xref="HGNC:HGNC:644"
                     /db_xref="MIM:313700"
                     /translation="MEVQLGLGRVYPRPPSKTYRGAFQNLFQSVREVIQNPGPRHPEA
                     ASAAPPGASLLLLQQQQQQQQQQQQQQQQQQQQQQQETSPRQQQQQQGEDGSPQAHRR
                     GPTGYLVLDEEQQPSQPQSALECHPERGCVPEPGAAVAASKGLPQQLPAPPDEDDSAA
                     PSTLSLLGPTFPGLSSCSADLKDILSEASTMQLLQQQQQEAVSEGSSSGRAREASGAP
                     TSSKDNYLGGTSTISDNAKELCKAVSVSMGLGVEALEHLSPGEQLRGDCMYAPLLGVP
                     PAVRPTPCAPLAECKGSLLDDSAGKSTEDTAEYSPFKGGYTKGLEGESLGCSGSAAAG
                     SSGTLELPSTLSLYKSGALDEAAAYQSRDYYNFPLALAGPPPPPPPPHPHARIKLENP
                     LDYGSAWAAAAAQCRYGDLASLHGAGAAGPGSGSPSAAASSSWHTLFTAEEGQLYGPC
                     GGGGGGGGGGGGGGGGGGGGGGGEAGAVAPYGYTRPPQGLAGQESDFTAPDVWYPGGM
                     VSRVPYPSPTCVKSEMGPWMDSYSGPYGDMRLETARDHVLPIDYYFPPQKTCLICGDE
                     ASGCHYGALTCGSCKVFFKRAAEGKQKYLCASRNDCTIDKFRRKNCPSCRLRKCYEAG
                     MTLGAAVVVSERILRVFGVSEWLP"
     exon            2141..2292
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /inference="alignment:Splign:2.1.0"
     exon            2293..2409
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /inference="alignment:Splign:2.1.0"
     exon            2410..2612
                     /gene="AR"
                     /gene_synonym="AIS; AR8; DHTR; HUMARA; HYSP1; KD; NR3C4;
                     SBMA; SMAX1; TFM"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcggagagaa ccctctgttt tcccccactc tctctccacc tcctcctgcc ttccccaccc
       61 cgagtgcgga gccagagatc aaaagatgaa aaggcagtca ggtcttcagt agccaaaaaa
      121 caaaacaaac aaaaacaaaa aagccgaaat aaaagaaaaa gataataact cagttcttat
      181 ttgcacctac ttcagtggac actgaatttg gaaggtggag gattttgttt ttttctttta
      241 agatctgggc atcttttgaa tctacccttc aagtattaag agacagactg tgagcctagc
      301 agggcagatc ttgtccaccg tgtgtcttct tctgcacgag actttgaggc tgtcagagcg
      361 ctttttgcgt ggttgctccc gcaagtttcc ttctctggag cttcccgcag gtgggcagct
      421 agctgcagcg actaccgcat catcacagcc tgttgaactc ttctgagcaa gagaagggga
      481 ggcggggtaa gggaagtagg tggaagattc agccaagctc aaggatggaa gtgcagttag
      541 ggctgggaag ggtctaccct cggccgccgt ccaagaccta ccgaggagct ttccagaatc
      601 tgttccagag cgtgcgcgaa gtgatccaga acccgggccc caggcaccca gaggccgcga
      661 gcgcagcacc tcccggcgcc agtttgctgc tgctgcagca gcagcagcag cagcagcagc
      721 agcagcagca gcagcagcag cagcagcagc agcagcagca gcaagagact agccccaggc
      781 agcagcagca gcagcagggt gaggatggtt ctccccaagc ccatcgtaga ggccccacag
      841 gctacctggt cctggatgag gaacagcaac cttcacagcc gcagtcggcc ctggagtgcc
      901 accccgagag aggttgcgtc ccagagcctg gagccgccgt ggccgccagc aaggggctgc
      961 cgcagcagct gccagcacct ccggacgagg atgactcagc tgccccatcc acgttgtccc
     1021 tgctgggccc cactttcccc ggcttaagca gctgctccgc tgaccttaaa gacatcctga
     1081 gcgaggccag caccatgcaa ctccttcagc aacagcagca ggaagcagta tccgaaggca
     1141 gcagcagcgg gagagcgagg gaggcctcgg gggctcccac ttcctccaag gacaattact
     1201 tagggggcac ttcgaccatt tctgacaacg ccaaggagtt gtgtaaggca gtgtcggtgt
     1261 ccatgggcct gggtgtggag gcgttggagc atctgagtcc aggggaacag cttcgggggg
     1321 attgcatgta cgccccactt ttgggagttc cacccgctgt gcgtcccact ccttgtgccc
     1381 cattggccga atgcaaaggt tctctgctag acgacagcgc aggcaagagc actgaagata
     1441 ctgctgagta ttcccctttc aagggaggtt acaccaaagg gctagaaggc gagagcctag
     1501 gctgctctgg cagcgctgca gcagggagct ccgggacact tgaactgccg tctaccctgt
     1561 ctctctacaa gtccggagca ctggacgagg cagctgcgta ccagagtcgc gactactaca
     1621 actttccact ggctctggcc ggaccgccgc cccctccgcc gcctccccat ccccacgctc
     1681 gcatcaagct ggagaacccg ctggactacg gcagcgcctg ggcggctgcg gcggcgcagt
     1741 gccgctatgg ggacctggcg agcctgcatg gcgcgggtgc agcgggaccc ggttctgggt
     1801 caccctcagc cgccgcttcc tcatcctggc acactctctt cacagccgaa gaaggccagt
     1861 tgtatggacc gtgtggtggt ggtgggggtg gtggcggcgg cggcggcggc ggcggcggcg
     1921 gcggcggcgg cggcggcggc ggcgaggcgg gagctgtagc cccctacggc tacactcggc
     1981 cccctcaggg gctggcgggc caggaaagcg acttcaccgc acctgatgtg tggtaccctg
     2041 gcggcatggt gagcagagtg ccctatccca gtcccacttg tgtcaaaagc gaaatgggcc
     2101 cctggatgga tagctactcc ggaccttacg gggacatgcg tttggagact gccagggacc
     2161 atgttttgcc cattgactat tactttccac cccagaagac ctgcctgatc tgtggagatg
     2221 aagcttctgg gtgtcactat ggagctctca catgtggaag ctgcaaggtc ttcttcaaaa
     2281 gagccgctga agggaaacag aagtacctgt gcgccagcag aaatgattgc actattgata
     2341 aattccgaag gaaaaattgt ccatcttgtc gtcttcggaa atgttatgaa gcagggatga
     2401 ctctgggagc agctgttgtt gtttctgaaa gaatcttgag ggtgtttgga gtctcagaat
     2461 ggcttcctta aagactacct tcagactctc agctgctcat ccacaacaga gatcagcctt
     2521 tctttgtaga tgattcattc ctggctgcat ttgaaaacca catattgtta attgcttgac
     2581 gaatttaaat cccttgacta cttttcattt caaaaaaaaa aaaaaaa
//
