SRY_HUMAN
ID SRY_HUMAN Reviewed; 204 AA.
AC Q05066;
DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-1994, sequence version 1.
DT 03-AUG-2022, entry version 216.
DE RecName: Full=Sex-determining region Y protein {ECO:0000303|PubMed:1695712};
DE AltName: Full=Testis-determining factor {ECO:0000303|PubMed:12970737, ECO:0000303|PubMed:1695712, ECO:0000303|PubMed:2247149};
GN Name=SRY {ECO:0000303|PubMed:1695712, ECO:0000312|HGNC:HGNC:11311};
GN Synonyms=TDF {ECO:0000303|PubMed:12970737, ECO:0000303|PubMed:1695712,
GN ECO:0000303|PubMed:2247149};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=1695712; DOI=10.1038/346240a0;
RA Sinclair A.H., Berta P., Palmer M.S., Hawkins J.R., Griffiths B.L.,
RA Smith M.J., Foster J.W., Frischauf A.-M., Lovell-Badge R., Goodfellow P.N.;
RT "A gene from the human sex-determining region encodes a protein with
RT homology to a conserved DNA-binding motif.";
RL Nature 346:240-244(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
RX PubMed=8434602;
RA Su H., Lau Y.-F.C.;
RT "Identification of the transcriptional unit, structural organization, and
RT promoter sequence of the human sex-determining region Y (SRY) gene, using a
RT reverse genetic approach.";
RL Am. J. Hum. Genet. 52:24-38(1993).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=8244390; DOI=10.1006/geno.1993.1395;
RA Behlke M.A., Bogan J.S., Beer-Romero P., Page D.C.;
RT "Evidence that the SRY protein is encoded by a single exon on the human Y
RT chromosome.";
RL Genomics 17:736-739(1993).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=7557997; DOI=10.1006/geno.1995.1047;
RA Whitfield L.S., Hawkins J.R., Goodfellow P.N., Sulston J.;
RT "41 kilobases of analyzed sequence from the pseudoautosomal and sex-
RT determining regions of the short arm of the human Y chromosome.";
RL Genomics 27:306-311(1995).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP FUNCTION, AND CHARACTERIZATION OF DNA-BINDING.
RX PubMed=1425584; DOI=10.1002/j.1460-2075.1992.tb05551.x;
RA Ferrari S., Harley V.R., Pontiggia A., Goodfellow P.N., Lovell-Badge R.,
RA Bianchi M.E.;
RT "SRY, like HMG1, recognizes sharp angles in DNA.";
RL EMBO J. 11:4497-4506(1992).
RN [7]
RP FUNCTION, AND CHARACTERIZATION OF DNA-BINDING.
RX PubMed=8265659; DOI=10.1073/pnas.90.24.11990;
RA King C.Y., Weiss M.A.;
RT "The SRY high-mobility-group box recognizes DNA by partial intercalation in
RT the minor groove: a topological mechanism of sequence specificity.";
RL Proc. Natl. Acad. Sci. U.S.A. 90:11990-11994(1993).
RN [8]
RP FUNCTION, AND CHARACTERIZATION OF DNA-BINDING.
RX PubMed=8159753; DOI=10.1073/pnas.91.8.3368;
RA Giese K., Pagel J., Grosschedl R.;
RT "Distinct DNA-binding properties of the high mobility group domain of
RT murine and human SRY sex-determining factors.";
RL Proc. Natl. Acad. Sci. U.S.A. 91:3368-3372(1994).
RN [9]
RP INTERACTION WITH SLC9A3R2.
RX PubMed=9054412; DOI=10.1074/jbc.272.11.7167;
RA Poulat F., de Santa Barbara P., Desclozeaux M., Soullier S., Moniot B.,
RA Bonneaud N., Boizet B., Berta P.;
RT "The human testis determining factor SRY binds a nuclear factor containing
RT PDZ protein interaction domains.";
RL J. Biol. Chem. 272:7167-7172(1997).
RN [10]
RP FUNCTION, PHOSPHORYLATION, AND MUTAGENESIS OF 31-SER--SER-33.
RX PubMed=9525897; DOI=10.1074/jbc.273.14.7988;
RA Desclozeaux M., Poulat F., de Santa Barbara P., Capony J.-P., Turowski P.,
RA Jay P., Mejean C., Moniot B., Boizet B., Berta P.;
RT "Phosphorylation of an N-terminal motif enhances DNA-binding activity of
RT the human SRY protein.";
RL J. Biol. Chem. 273:7988-7995(1998).
RN [11]
RP TISSUE SPECIFICITY.
RX PubMed=10732804; DOI=10.1007/s100480050042;
RA Mayer A., Lahr G., Swaab D.F., Pilgrim C., Reisert I.;
RT "The Y-chromosomal genes SRY and ZFY are transcribed in adult human
RT brain.";
RL Neurogenetics 1:281-288(1998).
RN [12]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=11818535; DOI=10.1073/pnas.022645899;
RA Ohe K., Lalli E., Sassone-Corsi P.;
RT "A direct role of SRY and SOX proteins in pre-mRNA splicing.";
RL Proc. Natl. Acad. Sci. U.S.A. 99:1146-1151(2002).
RN [13]
RP INTERACTION WITH WT1.
RX PubMed=12970737; DOI=10.1038/sj.onc.1206717;
RA Matsuzawa-Watanabe Y., Inoue J., Semba K.;
RT "Transcriptional activity of testis-determining factor SRY is modulated by
RT the Wilms' tumor 1 gene product, WT1.";
RL Oncogene 22:7900-7904(2003).
RN [14]
RP INTERACTION WITH KPNB1, DNA-BINDING, AND MUTAGENESIS OF ARG-62; ARG-75;
RP ARG-76 AND ARG-133.
RX PubMed=12764225; DOI=10.1073/pnas.1137864100;
RA Harley V.R., Layfield S., Mitchell C.L., Forwood J.K., John A.P.,
RA Briggs L.J., McDowall S.G., Jans D.A.;
RT "Defective importin beta recognition and nuclear import of the sex-
RT determining factor SRY are associated with XY sex-reversing mutations.";
RL Proc. Natl. Acad. Sci. U.S.A. 100:7045-7050(2003).
RN [15]
RP INTERACTION WITH CALM.
RX PubMed=12871148; DOI=10.2174/0929866033479004;
RA Kelly S., Yotis J., Macris M., Harley V.;
RT "Recombinant expression, purification and characterisation of the HMG
RT domain of human SRY.";
RL Protein Pept. Lett. 10:281-286(2003).
RN [16]
RP FUNCTION, AND DNA-BINDING.
RX PubMed=15170344; DOI=10.1021/bi049920a;
RA Phillips N.B., Nikolskaya T., Jancso-Radek A., Ittah V., Jiang F.,
RA Singh R., Haas E., Weiss M.A.;
RT "Sry-directed sex reversal in transgenic mice is robust with respect to
RT enhanced DNA bending: comparison of human and murine HMG boxes.";
RL Biochemistry 43:7066-7081(2004).
RN [17]
RP INTERACTION WITH EP300; HDAC3 AND KPNB1, ACETYLATION AT LYS-136,
RP MUTAGENESIS OF LYS-115; LYS-123; LYS-128; LYS-134 AND LYS-136, AND
RP SUBCELLULAR LOCATION.
RX PubMed=15297880; DOI=10.1038/sj.emboj.7600352;
RA Thevenet L., Mejean C., Moniot B., Bonneaud N., Galeotti N.,
RA Aldrian-Herrada G., Poulat F., Berta P., Benkirane M., Boizet-Bonhoure B.;
RT "Regulation of human SRY subcellular distribution by its
RT acetylation/deacetylation.";
RL EMBO J. 23:3336-3345(2004).
RN [18]
RP INTERACTION WITH ZNF208 ISOFORM KRAB-O.
RX PubMed=15469996; DOI=10.1095/biolreprod.104.034447;
RA Oh H.J., Li Y., Lau Y.-F.C.;
RT "Sry associates with the heterochromatin protein 1 complex by interacting
RT with a KRAB domain protein.";
RL Biol. Reprod. 72:407-415(2005).
RN [19]
RP INTERACTION WITH CALM, MUTAGENESIS OF ARG-75; ARG-76 AND ARG-133, AND
RP SUBCELLULAR LOCATION.
RX PubMed=15746192; DOI=10.1210/me.2004-0334;
RA Sim H., Rimmer K., Kelly S., Ludbrook L.M., Clayton A.H., Harley V.R.;
RT "Defective calmodulin-mediated nuclear transport of the sex-determining
RT region of the Y chromosome (SRY) in XY sex reversal.";
RL Mol. Endocrinol. 19:1884-1892(2005).
RN [20]
RP FUNCTION, SUBCELLULAR LOCATION, AND MUTAGENESIS OF MET-64.
RX PubMed=16762365; DOI=10.1016/j.jmb.2006.04.048;
RA Li B., Phillips N.B., Jancso-Radek A., Ittah V., Singh R., Jones D.N.,
RA Haas E., Weiss M.A.;
RT "SRY-directed DNA bending and human sex reversal: reassessment of a
RT clinical mutation uncovers a global coupling between the HMG box and its
RT tail.";
RL J. Mol. Biol. 360:310-328(2006).
RN [21]
RP INTERACTION WITH PARP1, AND ADP-RIBOSYLATION.
RX PubMed=16904257; DOI=10.1016/j.mce.2006.06.008;
RA Li Y., Oh H.J., Lau Y.-F.C.;
RT "The poly(ADP-ribose) polymerase 1 interacts with Sry and modulates its
RT biological functions.";
RL Mol. Cell. Endocrinol. 257:35-46(2006).
RN [22]
RP SUBCELLULAR LOCATION, AND MUTAGENESIS OF ARG-62; ARG-75; ARG-76 AND
RP ARG-133.
RX PubMed=19349578; DOI=10.1083/jcb.200810106;
RA Gontan C., Guettler T., Engelen E., Demmers J., Fornerod M., Grosveld F.G.,
RA Tibboel D., Goerlich D., Poot R.A., Rottier R.J.;
RT "Exportin 4 mediates a novel nuclear import pathway for Sox family
RT transcription factors.";
RL J. Cell Biol. 185:27-34(2009).
RN [23]
RP REVIEW.
RX PubMed=16996051; DOI=10.1016/j.ydbio.2006.08.049;
RA Polanco J.C., Koopman P.;
RT "Sry and the hesitant beginnings of male development.";
RL Dev. Biol. 302:13-24(2007).
RN [24]
RP REVIEW.
RX PubMed=16414182; DOI=10.1016/j.mce.2005.12.011;
RA Oh H.J., Lau Y.F.;
RT "KRAB: a partner for SRY action on chromatin.";
RL Mol. Cell. Endocrinol. 247:47-52(2006).
RN [25]
RP STRUCTURE BY NMR OF 56-131 IN COMPLEX WITH DNA.
RX PubMed=7774012; DOI=10.1016/0092-8674(95)90532-4;
RA Werner M.H., Huth J.R., Gronenborn A.M., Clore G.M.;
RT "Molecular basis of human 46X,Y sex reversal revealed from the three-
RT dimensional solution structure of the human SRY-DNA complex.";
RL Cell 81:705-714(1995).
RN [26]
RP STRUCTURE BY NMR OF 57-218 IN COMPLEX WITH DNA, CHARACTERIZATION OF VARIANT
RP SRXY1 ILE-64, AND FUNCTION.
RX PubMed=11563911; DOI=10.1006/jmbi.2001.4977;
RA Murphy E.C., Zhurkin V.B., Louis J.M., Cornilescu G., Clore G.M.;
RT "Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA
RT bending by a naturally occurring point mutation.";
RL J. Mol. Biol. 312:481-499(2001).
RN [27]
RP STRUCTURE BY NMR OF 56-130 IN COMPLEX WITH DNA.
RX PubMed=16813837; DOI=10.1016/j.jmb.2006.04.059;
RA Stott K., Tang G.S., Lee K.B., Thomas J.O.;
RT "Structure of a complex of tandem HMG boxes and DNA.";
RL J. Mol. Biol. 360:90-104(2006).
RN [28]
RP REVIEW ON VARIANTS.
RX PubMed=8257986; DOI=10.1002/humu.1380020504;
RA Hawkins J.R.;
RT "Mutational analysis of SRY in XY females.";
RL Hum. Mutat. 2:347-350(1993).
RN [29]
RP REVIEW ON VARIANTS.
RX PubMed=9143916;
RX DOI=10.1002/(sici)1098-1004(1997)9:5<388::aid-humu2>3.0.co;2-0;
RA Cameron F.J., Sinclair A.H.;
RT "Mutations in SRY and SOX9: testis-determining genes.";
RL Hum. Mutat. 9:388-395(1997).
RN [30]
RP VARIANTS SRXY1 LEU-60 AND ILE-64.
RX PubMed=2247149; DOI=10.1038/348448a0;
RA Berta P., Hawkins J.R., Sinclair A.H., Taylor A., Griffiths B.L.,
RA Goodfellow P.N., Fellous M.;
RT "Genetic evidence equating SRY and the testis-determining factor.";
RL Nature 348:448-450(1990).
RN [31]
RP VARIANTS SRXY1 GLY-62; THR-78 AND TRP-133.
RX PubMed=8353496; DOI=10.1093/hmg/2.6.785;
RA Affara N.A., Chalmers I.J., Ferguson-Smith M.A.;
RT "Analysis of the SRY gene in 22 sex-reversed XY females identifies four new
RT point mutations in the conserved DNA binding domain.";
RL Hum. Mol. Genet. 2:785-789(1993).
RN [32]
RP VARIANT SRXY1 LEU-60.
RX PubMed=1570829;
RA Vilain E., McElreavey K., Jaubert F., Raymond J.-P., Richaud F.,
RA Fellous M.;
RT "Familial case with sequence variant in the testis-determining region
RT associated with two sex phenotypes.";
RL Am. J. Hum. Genet. 50:1008-1011(1992).
RN [33]
RP VARIANTS SRXY1 MET-90 AND ILE-106.
RX PubMed=1415266;
RA Hawkins J.R., Taylor A., Goodfellow P.N., Migeon C.J., Smith K.D.,
RA Berkovitz G.D.;
RT "Evidence for increased prevalence of SRY mutations in XY females with
RT complete rather than partial gonadal dysgenesis.";
RL Am. J. Hum. Genet. 51:979-984(1992).
RN [34]
RP VARIANT SRXY1 ARG-95.
RX PubMed=1339396; DOI=10.1007/bf00215684;
RA Hawkins J.R., Taylor A., Berta P., Levilliers J., van der Auwera B.,
RA Goodfellow P.N.;
RT "Mutational analysis of SRY: nonsense and missense mutations in XY sex
RT reversal.";
RL Hum. Genet. 88:471-474(1992).
RN [35]
RP VARIANT SRXY1 HIS-101.
RX PubMed=8447323;
RA Braun A., Kammerer S., Cleve H., Loehrs U., Schwarz H.-P., Kuhnle U.;
RT "True hermaphroditism in a 46,XY individual, caused by a postzygotic
RT somatic point mutation in the male gonadal sex-determining locus (SRY):
RT molecular genetics and histological findings in a sporadic case.";
RL Am. J. Hum. Genet. 52:578-585(1993).
RN [36]
RP VARIANT SRXY1 SER-109.
RX PubMed=1483689; DOI=10.1007/bf00220457;
RA Jaeger R.J., Harley V.R., Pfeiffer R.A., Goodfellow P.N., Scherer G.;
RT "A familial mutation in the testis-determining gene SRY shared by both
RT sexes.";
RL Hum. Genet. 90:350-355(1992).
RN [37]
RP VARIANT SRXY1 THR-113.
RX PubMed=8105086; DOI=10.1136/jmg.30.8.655;
RA Zeng Y., Ren Z., Zhang M., Huang Y., Zeng F., Huang S.;
RT "A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY
RT gonadal dysgenesis.";
RL J. Med. Genet. 30:655-657(1993).
RN [38]
RP VARIANT SRXY1 CYS-127.
RX PubMed=8019555; DOI=10.1002/humu.1380030305;
RA Poulat F., Soulier S., Goze C., Heitz F., Calas B., Berta P.;
RT "Description and functional implications of a novel mutation in the sex-
RT determining gene SRY.";
RL Hum. Mutat. 3:200-204(1994).
RN [39]
RP VARIANT SRXY1 THR-68.
RX PubMed=7985018; DOI=10.1126/science.7985018;
RA Haqq C.M., King C.Y., Ukiyama E., Falsafi S., Haqq T.N., Donahoe P.K.,
RA Weiss M.A.;
RT "Molecular basis of mammalian sexual determination: activation of Mullerian
RT inhibiting substance gene expression by SRY.";
RL Science 266:1494-1500(1994).
RN [40]
RP VARIANTS SRXY1 GLY-91 AND LEU-125.
RX PubMed=7717397;
RA Schmitt-Ney M., Thiele H., Kaltwasser P., Bardoni B., Cisternino M.,
RA Scherer G.;
RT "Two novel SRY missense mutations reducing DNA binding identified in XY
RT females and their mosaic fathers.";
RL Am. J. Hum. Genet. 56:862-869(1995).
RN [41]
RP VARIANT SRXY1 ALA-60.
RX PubMed=7776083; DOI=10.1016/s0022-3476(95)70247-4;
RA Hiort O., Klaubert G.T.;
RT "True hermaphroditism with 46,XY karyotype and a point mutation in the SRY
RT gene.";
RL J. Pediatr. 126:1022-1022(1995).
RN [42]
RP VARIANT SRXY1 ARG-131.
RA Lundberg Y., Ritzen M., Harlin J., Wedell A.;
RT "Novel missense mutation (P131R) in the HMG box of SRY in XY sex
RT reversal.";
RL Hum. Mutat. Suppl. 1:S328-S328(1998).
RN [43]
RP VARIANTS SRXY1 ARG-64 AND VAL-67.
RX PubMed=9678356; DOI=10.1159/000014978;
RA Scherer G., Held M., Erdel M., Meschede D., Horst J., Lesniewicz R.,
RA Midro A.T.;
RT "Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY
RT gonadal dysgenesis cases without SRY mutations.";
RL Cytogenet. Cell Genet. 80:188-192(1998).
RN [44]
RP VARIANT SRXY1 ASN-18.
RX PubMed=9521592; DOI=10.1007/s004390050680;
RA Domenice S., Nishi M.Y., Billerbeck A.E.C., Latronico A.C., Medeiros M.A.,
RA Russell A.J., Vass K., Carvalho F.M., Costa-Frade E.M., Arnhold I.J.P.,
RA Mendonca B.B.;
RT "A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY
RT gene in a patient with partial gonadal dysgenesis and his normal male
RT relatives.";
RL Hum. Genet. 102:213-215(1998).
RN [45]
RP VARIANT SRXY1 MET-90.
RX PubMed=9450909;
RX DOI=10.1002/(sici)1098-1004(1998)11:1<90::aid-humu14>3.0.co;2-u;
RA Doerk T., Stuhrmann M., Miller K., Schmidtke J.;
RT "Independent observation of SRY mutation I90M in a patient with complete
RT gonadal dysgenesis.";
RL Hum. Mutat. 11:90-91(1998).
RN [46]
RP INVOLVEMENT IN SRXX1.
RX PubMed=9652903; DOI=10.2169/internalmedicine.37.467;
RA Inoue H., Nomura M., Yanase T., Ichino I., Goto K., Ikuyama S.,
RA Takayanagi R., Nawata H.;
RT "A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-
RT determining region Y chromosome-bearing cells in the gonads.";
RL Intern. Med. 37:467-471(1998).
RN [47]
RP VARIANT SRXY1 SER-76.
RX PubMed=10670762; DOI=10.1507/endocrj.46.735;
RA Imai A., Takagi A., Tamaya T.;
RT "A novel sex-determining region on Y (SRY) missense mutation identified in
RT a 46,XY female and also in the father.";
RL Endocr. J. 46:735-739(1999).
RN [48]
RP VARIANT SRXY1 ARG-108.
RA Jakubiczka S., Bettecken T., Stumm M., Neulen J., Wieacker P.;
RT "Another mutation within the HMG-box of the SRY gene associated with Swyer
RT syndrome.";
RL Hum. Mutat. 13:85-85(1999).
RN [49]
RP INVOLVEMENT IN SRXX1.
RX PubMed=10602113;
RX DOI=10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5;
RA Margarit E., Coll M.D., Oliva R., Gomez D., Soler A., Ballesta F.;
RT "SRY gene transferred to the long arm of the X chromosome in a Y-positive
RT XX true hermaphrodite.";
RL Am. J. Med. Genet. 90:25-28(2000).
RN [50]
RP VARIANT SRXY1 GLU-95.
RX PubMed=10852465; DOI=10.1210/jcem.85.6.6637;
RA Schaeffler A., Barth N., Winkler K., Zietz B., Ruemmele P., Knuechel R.,
RA Schoelmerich J., Palitzsch K.-D.;
RT "Identification of a new missense mutation (Gly95Glu) in a highly conserved
RT codon within the high-mobility group box of the sex-determining region Y
RT gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac
RT tumor.";
RL J. Clin. Endocrinol. Metab. 85:2287-2292(2000).
RN [51]
RP VARIANT SRXY1 ASN-18.
RX PubMed=10843173; DOI=10.1210/jcem.85.5.6609;
RA Canto P., de la Chesnaye E., Lopez M., Cervantes A., Chavez B., Vilchis F.,
RA Reyes E., Ulloa-Aguirre A., Kofman-Alfaro S., Mendez J.P.;
RT "A mutation in the 5' non-high mobility group box region of the SRY gene in
RT patients with Turner syndrome and Y mosaicism.";
RL J. Clin. Endocrinol. Metab. 85:1908-1911(2000).
RN [52]
RP VARIANT SRXY1 TYR-87.
RX PubMed=10721678; DOI=10.1007/s100380050026;
RA Okuhara K., Tajima T., Nakae J., Fujieda K.;
RT "A novel missense mutation in the HMG box region of the SRY gene in a
RT Japanese patient with an XY sex reversal.";
RL J. Hum. Genet. 45:112-114(2000).
RN [53]
RP VARIANT SRXY1 PHE-127.
RX PubMed=12107262; DOI=10.1210/jcem.87.7.8646;
RA Jordan B.K., Jain M., Natarajan S., Frasier S.D., Vilain E.;
RT "Familial mutation in the testis-determining gene SRY shared by an XY
RT female and her normal father.";
RL J. Clin. Endocrinol. Metab. 87:3428-3432(2002).
RN [54]
RP VARIANT SRXY1 MET-90.
RX PubMed=12793612; DOI=10.1515/jpem.2003.16.4.575;
RA Maier E.M., Leitner C., Lohrs U., Kuhnle U.;
RT "True hermaphroditism in an XY individual due to a familial point mutation
RT of the SRY gene.";
RL J. Pediatr. Endocrinol. Metab. 16:575-580(2003).
RN [55]
RP VARIANT SRXY1 LEU-3.
RX PubMed=17063144; DOI=10.1038/sj.ejhg.5201719;
RA Gimelli G., Gimelli S., Dimasi N., Bocciardi R., Battista E.D.,
RA Pramparo T., Zuffardi O.;
RT "Identification and molecular modelling of a novel familial mutation in the
RT SRY gene implicated in the pure gonadal dysgenesis.";
RL Eur. J. Hum. Genet. 15:76-80(2007).
RN [56]
RP INVOLVEMENT IN SRXY1, VARIANT SRXY1 MET-75, CHARACTERIZATION OF VARIANT
RP SRXY1 MET-75, AND SUBCELLULAR LOCATION.
RX PubMed=28030592; DOI=10.1371/journal.pone.0168484;
RA Fan W., Wang B., He S., Zhang T., Yin C., Chen Y., Zheng S., Zhang J.,
RA Li L.;
RT "A novel missense mutation 224G>T (R75M) in SRY coding region interferes
RT with nuclear import and results in 46, XY complete gonadal dysgenesis.";
RL PLoS ONE 11:E0168484-E0168484(2016).
CC -!- FUNCTION: Transcriptional regulator that controls a genetic switch in
CC male development (PubMed:11563911). It is necessary and sufficient for
CC initiating male sex determination by directing the development of
CC supporting cell precursors (pre-Sertoli cells) as Sertoli rather than
CC granulosa cells (PubMed:16996051, PubMed:16414182). Involved in
CC different aspects of gene regulation including promoter activation or
CC repression (PubMed:9525897). Binds to the DNA consensus sequence 5'-
CC [AT]AACAA[AT]-3' (PubMed:1425584, PubMed:8265659, PubMed:8159753,
CC PubMed:11563911, PubMed:15170344). SRY HMG box recognizes DNA by
CC partial intercalation in the minor groove and promotes DNA bending
CC (PubMed:1425584, PubMed:8265659, PubMed:8159753, PubMed:11563911,
CC PubMed:15170344, PubMed:16762365). Also involved in pre-mRNA splicing
CC (PubMed:11818535). In male adult brain involved in the maintenance of
CC motor functions of dopaminergic neurons (By similarity).
CC {ECO:0000250|UniProtKB:P36394, ECO:0000269|PubMed:11563911,
CC ECO:0000269|PubMed:11818535, ECO:0000269|PubMed:1425584,
CC ECO:0000269|PubMed:15170344, ECO:0000269|PubMed:16762365,
CC ECO:0000269|PubMed:8159753, ECO:0000269|PubMed:8265659,
CC ECO:0000269|PubMed:9525897, ECO:0000303|PubMed:16414182,
CC ECO:0000303|PubMed:16996051}.
CC -!- SUBUNIT: Interacts with CALM, EP300, HDAC3, KPNB1, ZNF208 isoform KRAB-
CC O, PARP1, SLC9A3R2 and WT1 (PubMed:9054412, PubMed:12970737,
CC PubMed:12871148, PubMed:15297880, PubMed:15469996, PubMed:15746192,
CC PubMed:16904257). The interaction with EP300 modulates its DNA-binding
CC activity. The interaction with KPNB1 is sensitive to dissociation by
CC Ran in the GTP-bound form (PubMed:15297880). Interaction with PARP1
CC impaired its DNA-binding activity (PubMed:16904257).
CC {ECO:0000269|PubMed:12871148, ECO:0000269|PubMed:12970737,
CC ECO:0000269|PubMed:15297880, ECO:0000269|PubMed:15469996,
CC ECO:0000269|PubMed:15746192, ECO:0000269|PubMed:16904257,
CC ECO:0000269|PubMed:9054412}.
CC -!- INTERACTION:
CC Q05066; Q15599: SLC9A3R2; NbExp=9; IntAct=EBI-464987, EBI-1149760;
CC -!- SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:11818535}.
CC Cytoplasm {ECO:0000269|PubMed:15297880, ECO:0000269|PubMed:19349578}.
CC Nucleus {ECO:0000269|PubMed:15297880, ECO:0000269|PubMed:15746192,
CC ECO:0000269|PubMed:16762365, ECO:0000269|PubMed:19349578,
CC ECO:0000269|PubMed:28030592}. Note=Acetylation contributes to its
CC nuclear localization and deacetylation by HDAC3 induces a cytoplasmic
CC delocalization (PubMed:15297880). Colocalizes with SOX6 in speckles
CC (PubMed:11818535). Colocalizes with CAML in the nucleus
CC (PubMed:15746192). Colocalizes in the nucleus with ZNF208 isoform KRAB-
CC O and tyrosine hydroxylase (TH) (By similarity). Nuclear import is
CC facilitated by XPO4, a protein that usually acts as a nuclear export
CC signal receptor (PubMed:19349578). {ECO:0000250|UniProtKB:Q05738,
CC ECO:0000269|PubMed:11818535, ECO:0000269|PubMed:15297880,
CC ECO:0000269|PubMed:15746192, ECO:0000269|PubMed:19349578}.
CC -!- DOMAIN: DNA binding and bending properties of the HMG domains of human
CC and mouse SRY differ form each other. Human SRY shows more extensive
CC minor groove contacts with DNA and a lower specificity of sequence
CC recognition than mouse SRY. {ECO:0000269|PubMed:1425584,
CC ECO:0000269|PubMed:8159753, ECO:0000269|PubMed:8265659}.
CC -!- PTM: Phosphorylated on serine residues by PKA. Phosphorylation by PKA
CC enhances its DNA-binding activity and stimulates transcription
CC repression. {ECO:0000269|PubMed:9525897}.
CC -!- PTM: Acetylation of Lys-136 contributes to its nuclear localization and
CC enhances its interaction with KPNB1. Deacetylated by HDAC3.
CC {ECO:0000269|PubMed:15297880}.
CC -!- PTM: Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its DNA-
CC binding activity. {ECO:0000269|PubMed:16904257}.
CC -!- DISEASE: 46,XY sex reversal 1 (SRXY1) [MIM:400044]: A condition
CC characterized by male-to-female sex reversal in the presence of a
CC normal 46,XY karyotype. Patients manifest rapid and early degeneration
CC of their gonads, which are present in the adult as 'streak gonads',
CC consisting mainly of fibrous tissue and variable amounts of ovarian
CC stroma. As a result these patients do not develop secondary sexual
CC characteristics at puberty. The external genitalia in these subjects
CC are completely female, and Muellerian structures are normal.
CC {ECO:0000269|PubMed:10670762, ECO:0000269|PubMed:10721678,
CC ECO:0000269|PubMed:10843173, ECO:0000269|PubMed:10852465,
CC ECO:0000269|PubMed:11563911, ECO:0000269|PubMed:12107262,
CC ECO:0000269|PubMed:12793612, ECO:0000269|PubMed:1339396,
CC ECO:0000269|PubMed:1415266, ECO:0000269|PubMed:1483689,
CC ECO:0000269|PubMed:1570829, ECO:0000269|PubMed:17063144,
CC ECO:0000269|PubMed:2247149, ECO:0000269|PubMed:28030592,
CC ECO:0000269|PubMed:7717397, ECO:0000269|PubMed:7776083,
CC ECO:0000269|PubMed:7985018, ECO:0000269|PubMed:8019555,
CC ECO:0000269|PubMed:8105086, ECO:0000269|PubMed:8353496,
CC ECO:0000269|PubMed:8447323, ECO:0000269|PubMed:9450909,
CC ECO:0000269|PubMed:9521592, ECO:0000269|PubMed:9678356,
CC ECO:0000269|Ref.42, ECO:0000269|Ref.48}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- DISEASE: Note=A 45,X chromosomal aberration involving SRY is found in
CC Turner syndrome, a disease characterized by gonadal dysgenesis with
CC short stature, 'streak gonads', variable abnormalities such as webbing
CC of the neck, cubitus valgus, cardiac defects, low posterior hair line.
CC The phenotype is female. {ECO:0000269|PubMed:10843173}.
CC -!- DISEASE: 46,XX sex reversal 1 (SRXX1) [MIM:400045]: A condition in
CC which male gonads develop in a genetic female (female to male sex
CC reversal). {ECO:0000269|PubMed:10602113, ECO:0000269|PubMed:9652903}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- SIMILARITY: Belongs to the SRY family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=The tenuous nature of sex
CC - Issue 80 of March 2007;
CC URL="https://web.expasy.org/spotlight/back_issues/080";
CC -!- WEB RESOURCE: Name=Wikipedia; Note=SRY entry;
CC URL="https://en.wikipedia.org/wiki/SRY";
CC ---------------------------------------------------------------------------
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DR EMBL; X53772; CAA37790.1; -; Genomic_DNA.
DR EMBL; L10101; AAA60590.1; -; mRNA.
DR EMBL; L10102; AAA60591.1; -; Genomic_DNA.
DR EMBL; L08063; AAA16878.1; -; Genomic_DNA.
DR EMBL; X96421; CAA65281.1; -; Genomic_DNA.
DR EMBL; S53156; AAB25008.1; -; mRNA.
DR EMBL; S56543; AAB25716.1; -; mRNA.
DR EMBL; BC074923; AAH74923.1; -; mRNA.
DR EMBL; BC074924; AAH74924.1; -; mRNA.
DR CCDS; CCDS14772.1; -.
DR PIR; A47533; A47533.
DR RefSeq; NP_003131.1; NM_003140.2.
DR PDB; 1HRY; NMR; -; A=56-131.
DR PDB; 1HRZ; NMR; -; A=56-131.
DR PDB; 1J46; NMR; -; A=57-140.
DR PDB; 1J47; NMR; -; A=57-140.
DR PDB; 2GZK; NMR; -; A=56-130.
DR PDB; 6EDB; X-ray; 3.21 A; A/B=56-130.
DR PDBsum; 1HRY; -.
DR PDBsum; 1HRZ; -.
DR PDBsum; 1J46; -.
DR PDBsum; 1J47; -.
DR PDBsum; 2GZK; -.
DR PDBsum; 6EDB; -.
DR AlphaFoldDB; Q05066; -.
DR SMR; Q05066; -.
DR BioGRID; 112614; 25.
DR IntAct; Q05066; 1.
DR MINT; Q05066; -.
DR iPTMnet; Q05066; -.
DR PhosphoSitePlus; Q05066; -.
DR BioMuta; SRY; -.
DR DMDM; 548983; -.
DR MassIVE; Q05066; -.
DR PaxDb; Q05066; -.
DR PRIDE; Q05066; -.
DR ABCD; Q05066; 2 sequenced antibodies.
DR Antibodypedia; 599; 338 antibodies from 32 providers.
DR DNASU; 6736; -.
DR Ensembl; ENST00000383070.2; ENSP00000372547.1; ENSG00000184895.8.
DR GeneID; 6736; -.
DR KEGG; hsa:6736; -.
DR MANE-Select; ENST00000383070.2; ENSP00000372547.1; NM_003140.3; NP_003131.1.
DR UCSC; uc004fqg.3; human.
DR CTD; 6736; -.
DR DisGeNET; 6736; -.
DR GeneCards; SRY; -.
DR GeneReviews; SRY; -.
DR HGNC; HGNC:11311; SRY.
DR HPA; ENSG00000184895; Tissue enhanced (skin, testis).
DR MalaCards; SRY; -.
DR MIM; 400044; phenotype.
DR MIM; 400045; phenotype.
DR MIM; 480000; gene.
DR neXtProt; NX_Q05066; -.
DR OpenTargets; ENSG00000184895; -.
DR Orphanet; 1772; 45,X/46,XY mixed gonadal dysgenesis.
DR Orphanet; 2138; 46,XX ovotesticular disorder of sex development.
DR Orphanet; 393; 46,XX testicular disorder of sex development.
DR Orphanet; 242; 46,XY complete gonadal dysgenesis.
DR Orphanet; 251510; 46,XY partial gonadal dysgenesis.
DR PharmGKB; PA36135; -.
DR VEuPathDB; HostDB:ENSG00000184895; -.
DR GeneTree; ENSGT00940000165583; -.
DR HOGENOM; CLU_1209425_0_0_1; -.
DR InParanoid; Q05066; -.
DR OMA; DCTKATH; -.
DR OrthoDB; 369754at2759; -.
DR PhylomeDB; Q05066; -.
DR PathwayCommons; Q05066; -.
DR Reactome; R-HSA-3769402; Deactivation of the beta-catenin transactivating complex.
DR Reactome; R-HSA-9690406; Transcriptional regulation of testis differentiation.
DR SignaLink; Q05066; -.
DR SIGNOR; Q05066; -.
DR BioGRID-ORCS; 6736; 7 hits in 718 CRISPR screens.
DR EvolutionaryTrace; Q05066; -.
DR GeneWiki; SRY; -.
DR GenomeRNAi; 6736; -.
DR Pharos; Q05066; Tbio.
DR PRO; PR:Q05066; -.
DR Proteomes; UP000005640; Chromosome Y.
DR RNAct; Q05066; protein.
DR Bgee; ENSG00000184895; Expressed in tendon of biceps brachii and 52 other tissues.
DR ExpressionAtlas; Q05066; baseline and differential.
DR Genevisible; Q05066; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0016607; C:nuclear speck; IEA:UniProtKB-SubCell.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0005516; F:calmodulin binding; IEA:UniProtKB-KW.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:UniProtKB.
DR GO; GO:0140297; F:DNA-binding transcription factor binding; IPI:UniProtKB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0030238; P:male sex determination; IBA:GO_Central.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0010628; P:positive regulation of gene expression; IDA:UniProtKB.
DR GO; GO:2000020; P:positive regulation of male gonad development; IDA:UniProtKB.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
DR GO; GO:0007548; P:sex differentiation; IEA:UniProtKB-KW.
DR Gene3D; 1.10.30.10; -; 1.
DR IDEAL; IID00315; -.
DR InterPro; IPR009071; HMG_box_dom.
DR InterPro; IPR036910; HMG_box_dom_sf.
DR InterPro; IPR017253; SRY.
DR PANTHER; PTHR10270:SF199; PTHR10270:SF199; 1.
DR Pfam; PF00505; HMG_box; 1.
DR PIRSF; PIRSF037653; SRY; 1.
DR SMART; SM00398; HMG; 1.
DR SUPFAM; SSF47095; SSF47095; 1.
DR PROSITE; PS50118; HMG_BOX_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Activator; ADP-ribosylation; Calmodulin-binding;
KW Chromosomal rearrangement; Cytoplasm; Differentiation; Disease variant;
KW DNA-binding; Nucleus; Reference proteome; Repressor;
KW Sexual differentiation; Transcription; Transcription regulation.
FT CHAIN 1..204
FT /note="Sex-determining region Y protein"
FT /id="PRO_0000048671"
FT DNA_BIND 60..128
FT /note="HMG box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00267"
FT REGION 59..136
FT /note="Sufficient for interaction with KPNB1"
FT /evidence="ECO:0000269|PubMed:15297880"
FT REGION 61..77
FT /note="Required for nuclear localization"
FT /evidence="ECO:0000269|PubMed:12764225,
FT ECO:0000269|PubMed:15746192"
FT REGION 107..139
FT /note="Sufficient for interaction with EP300"
FT /evidence="ECO:0000269|PubMed:15297880"
FT REGION 130..136
FT /note="Required for nuclear localization"
FT /evidence="ECO:0000269|PubMed:15297880"
FT REGION 138..155
FT /note="Necessary for interaction with ZNF208 isoform KRAB-
FT O"
FT /evidence="ECO:0000269|PubMed:15469996"
FT REGION 175..204
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 198..204
FT /note="Necessary for interaction with SLC9A3R2"
FT /evidence="ECO:0000269|PubMed:9054412"
FT MOD_RES 136
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000269|PubMed:15297880"
FT VARIANT 3
FT /note="S -> L (in SRXY1)"
FT /evidence="ECO:0000269|PubMed:17063144"
FT /id="VAR_030019"
FT VARIANT 18
FT /note="S -> N (in SRXY1; partial; also in two patients with
FT a Turner syndrome phenotype; dbSNP:rs104894971)"
FT /evidence="ECO:0000269|PubMed:10843173,
FT ECO:0000269|PubMed:9521592"
FT /id="VAR_003717"
FT VARIANT 60
FT /note="V -> A (in SRXY1; dbSNP:rs764249635)"
FT /evidence="ECO:0000269|PubMed:7776083"
FT /id="VAR_003718"
FT VARIANT 60
FT /note="V -> L (in SRXY1; dbSNP:rs104894957)"
FT /evidence="ECO:0000269|PubMed:1570829,
FT ECO:0000269|PubMed:2247149"
FT /id="VAR_003719"
FT VARIANT 62
FT /note="R -> G (in SRXY1)"
FT /evidence="ECO:0000269|PubMed:8353496"
FT /id="VAR_003720"
FT VARIANT 64
FT /note="M -> I (in SRXY1; alters interaction with DNA and
FT DNA bending; dbSNP:rs104894969)"
FT /evidence="ECO:0000269|PubMed:11563911,
FT ECO:0000269|PubMed:2247149"
FT /id="VAR_003721"
FT VARIANT 64
FT /note="M -> R (in SRXY1)"
FT /evidence="ECO:0000269|PubMed:9678356"
FT /id="VAR_017298"
FT VARIANT 67
FT /note="F -> V (in SRXY1)"
FT /evidence="ECO:0000269|PubMed:9678356"
FT /id="VAR_017299"
FT VARIANT 68
FT /note="I -> T (in SRXY1; dbSNP:rs104894968)"
FT /evidence="ECO:0000269|PubMed:7985018"
FT /id="VAR_003722"
FT VARIANT 75
FT /note="R -> M (in SRXY1; localizes mainly in the
FT cytoplasm)"
FT /evidence="ECO:0000269|PubMed:28030592"
FT /id="VAR_078433"
FT VARIANT 76
FT /note="R -> S (in SRXY1)"
FT /evidence="ECO:0000269|PubMed:10670762"
FT /id="VAR_017300"
FT VARIANT 78
FT /note="M -> T (in SRXY1)"
FT /evidence="ECO:0000269|PubMed:8353496"
FT /id="VAR_003723"
FT VARIANT 87
FT /note="N -> Y (in SRXY1)"
FT /evidence="ECO:0000269|PubMed:10721678"
FT /id="VAR_017301"
FT VARIANT 90
FT /note="I -> M (in SRXY1; dbSNP:rs104894959)"
FT /evidence="ECO:0000269|PubMed:12793612,
FT ECO:0000269|PubMed:1415266, ECO:0000269|PubMed:9450909"
FT /id="VAR_003724"
FT VARIANT 91
FT /note="S -> G (in SRXY1)"
FT /evidence="ECO:0000269|PubMed:7717397"
FT /id="VAR_003725"
FT VARIANT 95
FT /note="G -> E (in SRXY1; dbSNP:rs104894972)"
FT /evidence="ECO:0000269|PubMed:10852465"
FT /id="VAR_017302"
FT VARIANT 95
FT /note="G -> R (in SRXY1; dbSNP:rs104894974)"
FT /evidence="ECO:0000269|PubMed:1339396"
FT /id="VAR_003726"
FT VARIANT 101
FT /note="L -> H (in SRXY1)"
FT /evidence="ECO:0000269|PubMed:8447323"
FT /id="VAR_003727"
FT VARIANT 106
FT /note="K -> I (in SRXY1; dbSNP:rs104894964)"
FT /evidence="ECO:0000269|PubMed:1415266"
FT /id="VAR_003728"
FT VARIANT 108
FT /note="P -> R (in SRXY1)"
FT /evidence="ECO:0000269|Ref.48"
FT /id="VAR_003729"
FT VARIANT 109
FT /note="F -> S (in SRXY1; dbSNP:rs104894956)"
FT /evidence="ECO:0000269|PubMed:1483689"
FT /id="VAR_003730"
FT VARIANT 113
FT /note="A -> T (in SRXY1; dbSNP:rs104894966)"
FT /evidence="ECO:0000269|PubMed:8105086"
FT /id="VAR_003731"
FT VARIANT 125
FT /note="P -> L (in SRXY1)"
FT /evidence="ECO:0000269|PubMed:7717397"
FT /id="VAR_003732"
FT VARIANT 127
FT /note="Y -> C (in SRXY1; dbSNP:rs104894973)"
FT /evidence="ECO:0000269|PubMed:8019555"
FT /id="VAR_003733"
FT VARIANT 127
FT /note="Y -> F (in SRXY1; dbSNP:rs104894973)"
FT /evidence="ECO:0000269|PubMed:12107262"
FT /id="VAR_017303"
FT VARIANT 131
FT /note="P -> R (in SRXY1)"
FT /evidence="ECO:0000269|Ref.42"
FT /id="VAR_017304"
FT VARIANT 133
FT /note="R -> W (in SRXY1; dbSNP:rs104894976)"
FT /evidence="ECO:0000269|PubMed:8353496"
FT /id="VAR_003734"
FT MUTAGEN 31..33
FT /note="SSS->AAA: Abolishes its phosphorylation by PKA. Does
FT not enhance its DNA-binding activity. Abolishes stimulation
FT of transcription repression."
FT /evidence="ECO:0000269|PubMed:9525897"
FT MUTAGEN 62
FT /note="R->G: Strongly reduces nuclear localization.
FT Strongly reduces nuclear localization; when associated with
FT W-133. Reduces interaction with KPNB1."
FT /evidence="ECO:0000269|PubMed:12764225,
FT ECO:0000269|PubMed:19349578"
FT MUTAGEN 64
FT /note="M->I: Abolishes nuclear localization."
FT /evidence="ECO:0000269|PubMed:16762365"
FT MUTAGEN 75
FT /note="R->N: Strongly reduces nuclear localization.
FT Abolishes DNA-binding. Does not reduce interaction with
FT KPNB1 and CAML."
FT /evidence="ECO:0000269|PubMed:12764225,
FT ECO:0000269|PubMed:15746192, ECO:0000269|PubMed:19349578"
FT MUTAGEN 76
FT /note="R->P: Reduces nuclear localization. Reduces DNA-
FT binding. Does not reduce interaction with KPNB1 and CAML.
FT Does not affectnuclear import."
FT /evidence="ECO:0000269|PubMed:12764225,
FT ECO:0000269|PubMed:15746192, ECO:0000269|PubMed:19349578"
FT MUTAGEN 115
FT /note="K->R: Does not abolish acetylation activity."
FT /evidence="ECO:0000269|PubMed:15297880"
FT MUTAGEN 123
FT /note="K->R: Does not abolish acetylation."
FT /evidence="ECO:0000269|PubMed:15297880"
FT MUTAGEN 128
FT /note="K->R: Does not abolish acetylation."
FT /evidence="ECO:0000269|PubMed:15297880"
FT MUTAGEN 133
FT /note="R->W: Reduces nuclear localization. Strongly reduces
FT nuclear localization; when associated with G-62. Reduces
FT interaction with KPNB1. Does not reduce interaction with
FT CAML. Does not abolish DNA-binding."
FT /evidence="ECO:0000269|PubMed:12764225,
FT ECO:0000269|PubMed:15746192, ECO:0000269|PubMed:19349578"
FT MUTAGEN 134
FT /note="K->R: Does not abolish acetylation."
FT /evidence="ECO:0000269|PubMed:15297880"
FT MUTAGEN 136
FT /note="K->R: Abolishes acetylation. Does not abolish
FT interaction with EP300. Does not abolish DNA-binding.
FT Enhances cytoplasmic localization. Abolishes interaction
FT with KPNB1."
FT /evidence="ECO:0000269|PubMed:15297880"
FT HELIX 66..79
FT /evidence="ECO:0007829|PDB:6EDB"
FT HELIX 87..98
FT /evidence="ECO:0007829|PDB:6EDB"
FT HELIX 103..118
FT /evidence="ECO:0007829|PDB:6EDB"
FT STRAND 121..123
FT /evidence="ECO:0007829|PDB:6EDB"
FT STRAND 124..126
FT /evidence="ECO:0007829|PDB:1HRY"
SQ SEQUENCE 204 AA; 23884 MW; 84323C30A9C2173E CRC64;
MQSYASAMLS VFNSDDYSPA VQENIPALRR SSSFLCTESC NSKYQCETGE NSKGNVQDRV
KRPMNAFIVW SRDQRRKMAL ENPRMRNSEI SKQLGYQWKM LTEAEKWPFF QEAQKLQAMH
REKYPNYKYR PRRKAKMLPK NCSLLPADPA SVLCSEVQLD NRLYRDDCTK ATHSRMEHQL
GHLPPINAAS SPQQRDRYSH WTKL
