[1]	NUCLEOTIDE SEQUENCE [GENOMIC DNA]. DOI=10.1038/346240a0; PubMed=1695712 [NCBI, ExPASy, EBI, Israel, Japan] Sinclair A.H., Berta P., Palmer M.S., Hawkins J.R., Griffiths B.L., Smith M.J., Foster J.W., Frischauf A.-M., Lovell-Badge R., Goodfellow P.N.; "A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif."; Nature 346:240-244(1990).
[2]	NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. PubMed=8434602 [NCBI, ExPASy, EBI, Israel, Japan] Su H., Lau Y.-F.C.; "Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach."; Am. J. Hum. Genet. 52:24-38(1993).
[3]	NUCLEOTIDE SEQUENCE [GENOMIC DNA]. DOI=10.1006/geno.1993.1395; PubMed=8244390 [NCBI, ExPASy, EBI, Israel, Japan] Behlke M.A., Bogan J.S., Beer-Romero P., Page D.C.; "Evidence that the SRY protein is encoded by a single exon on the human Y chromosome."; Genomics 17:736-739(1993).
[4]	NUCLEOTIDE SEQUENCE [GENOMIC DNA]. DOI=10.1006/geno.1995.1047; PubMed=7557997 [NCBI, ExPASy, EBI, Israel, Japan] Whitfield L.S., Hawkins J.R., Goodfellow P.N., Sulston J.; "41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome."; Genomics 27:306-311(1995).
[5]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[6]	CHARACTERIZATION OF DNA-BINDING. PubMed=1425584 [NCBI, ExPASy, EBI, Israel, Japan] Ferrari S., Harley V.R., Pontiggia A., Goodfellow P.N., Lovell-Badge R., Bianchi M.E.; "SRY, like HMG1, recognizes sharp angles in DNA."; EMBO J. 11:4497-4506(1992).
[7]	CHARACTERIZATION OF DNA-BINDING. DOI=10.1073/pnas.90.24.11990; PubMed=8265659 [NCBI, ExPASy, EBI, Israel, Japan] King C.Y., Weiss M.A.; "The SRY high-mobility-group box recognizes DNA by partial intercalation in the minor groove: a topological mechanism of sequence specificity."; Proc. Natl. Acad. Sci. U.S.A. 90:11990-11994(1993).
[8]	CHARACTERIZATION OF DNA-BINDING. DOI=10.1073/pnas.91.8.3368; PubMed=8159753 [NCBI, ExPASy, EBI, Israel, Japan] Giese K., Pagel J., Grosschedl R.; "Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors."; Proc. Natl. Acad. Sci. U.S.A. 91:3368-3372(1994).
[9]	INTERACTION WITH SLC9A3R2. DOI=10.1074/jbc.272.11.7167; PubMed=9054412 [NCBI, ExPASy, EBI, Israel, Japan] Poulat F., de Santa Barbara P., Desclozeaux M., Soullier S., Moniot B., Bonneaud N., Boizet B., Berta P.; "The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains."; J. Biol. Chem. 272:7167-7172(1997).
[10]	PHOSPHORYLATION, AND MUTAGENESIS OF 31-SER--SER-33. DOI=10.1074/jbc.273.14.7988; PubMed=9525897 [NCBI, ExPASy, EBI, Israel, Japan] Desclozeaux M., Poulat F., de Santa Barbara P., Capony J.-P., Turowski P., Jay P., Mejean C., Moniot B., Boizet B., Berta P.; "Phosphorylation of an N-terminal motif enhances DNA-binding activity of the human SRY protein."; J. Biol. Chem. 273:7988-7995(1998).
[11]	TISSUE SPECIFICITY. DOI=10.1007/s100480050042; PubMed=10732804 [NCBI, ExPASy, EBI, Israel, Japan] Mayer A., Lahr G., Swaab D.F., Pilgrim C., Reisert I.; "The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain."; Neurogenetics 1:281-288(1998).
[12]	FUNCTION, AND SUBCELLULAR LOCATION. DOI=10.1073/pnas.022645899; PubMed=11818535 [NCBI, ExPASy, EBI, Israel, Japan] Ohe K., Lalli E., Sassone-Corsi P.; "A direct role of SRY and SOX proteins in pre-mRNA splicing."; Proc. Natl. Acad. Sci. U.S.A. 99:1146-1151(2002).
[13]	INTERACTION WITH WT1. DOI=10.1038/sj.onc.1206717; PubMed=12970737 [NCBI, ExPASy, EBI, Israel, Japan] Matsuzawa-Watanabe Y., Inoue J., Semba K.; "Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1."; Oncogene 22:7900-7904(2003).
[14]	INTERACTION WITH KPNB1, DNA-BINDING, AND MUTAGENESIS OF ARG-62; ARG-75; ARG-76 AND ARG-133. DOI=10.1073/pnas.1137864100; PubMed=12764225 [NCBI, ExPASy, EBI, Israel, Japan] Harley V.R., Layfield S., Mitchell C.L., Forwood J.K., John A.P., Briggs L.J., McDowall S.G., Jans D.A.; "Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations."; Proc. Natl. Acad. Sci. U.S.A. 100:7045-7050(2003).
[15]	INTERACTION WITH CALM. PubMed=12871148 [NCBI, ExPASy, EBI, Israel, Japan] Kelly S., Yotis J., Macris M., Harley V.; "Recombinant expression, purification and characterisation of the HMG domain of human SRY."; Protein Pept. Lett. 10:281-286(2003).
[16]	FUNCTION, AND DNA-BINDING. DOI=10.1021/bi049920a; PubMed=15170344 [NCBI, ExPASy, EBI, Israel, Japan] Phillips N.B., Nikolskaya T., Jancso-Radek A., Ittah V., Jiang F., Singh R., Haas E., Weiss M.A.; "Sry-directed sex reversal in transgenic mice is robust with respect to enhanced DNA bending: comparison of human and murine HMG boxes."; Biochemistry 43:7066-7081(2004).
[17]	INTERACTION WITH EP300; HDAC3 AND KPNB1, ACETYLATION AT LYS-136, MUTAGENESIS OF LYS-115; LYS-123; LYS-128; LYS-134 AND LYS-136, AND SUBCELLULAR LOCATION. DOI=10.1038/sj.emboj.7600352; PubMed=15297880 [NCBI, ExPASy, EBI, Israel, Japan] Thevenet L., Mejean C., Moniot B., Bonneaud N., Galeotti N., Aldrian-Herrada G., Poulat F., Berta P., Benkirane M., Boizet-Bonhoure B.; "Regulation of human SRY subcellular distribution by its acetylation/deacetylation."; EMBO J. 23:3336-3345(2004).
[18]	INTERACTION WITH ZNF208 ISOFORM KRAB-O. DOI=10.1095/biolreprod.104.034447; PubMed=15469996 [NCBI, ExPASy, EBI, Israel, Japan] Oh H.J., Li Y., Lau Y.-F.C.; "Sry associates with the heterochromatin protein 1 complex by interacting with a KRAB domain protein."; Biol. Reprod. 72:407-415(2005).
[19]	INTERACTION WITH CALM, MUTAGENESIS OF ARG-75; ARG-76 AND ARG-133, AND SUBCELLULAR LOCATION. DOI=10.1210/me.2004-0334; PubMed=15746192 [NCBI, ExPASy, EBI, Israel, Japan] Sim H., Rimmer K., Kelly S., Ludbrook L.M., Clayton A.H., Harley V.R.; "Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal."; Mol. Endocrinol. 19:1884-1892(2005).
[20]	FUNCTION, AND MUTAGENESIS OF MET-64. DOI=10.1016/j.jmb.2006.04.048; PubMed=16762365 [NCBI, ExPASy, EBI, Israel, Japan] Li B., Phillips N.B., Jancso-Radek A., Ittah V., Singh R., Jones D.N., Haas E., Weiss M.A.; "SRY-directed DNA bending and human sex reversal: reassessment of a clinical mutation uncovers a global coupling between the HMG box and its tail."; J. Mol. Biol. 360:310-328(2006).
[21]	INTERACTION WITH PARP1. DOI=10.1016/j.mce.2006.06.008; PubMed=16904257 [NCBI, ExPASy, EBI, Israel, Japan] Li Y., Oh H.J., Lau Y.-F.C.; "The poly(ADP-ribose) polymerase 1 interacts with Sry and modulates its biological functions."; Mol. Cell. Endocrinol. 257:35-46(2006).
[22]	REVIEW. DOI=10.1016/j.ydbio.2006.08.049; PubMed=16996051 [NCBI, ExPASy, EBI, Israel, Japan] Polanco J.C., Koopman P.; "Sry and the hesitant beginnings of male development."; Dev. Biol. 302:13-24(2007).
[23]	REVIEW. DOI=10.1016/j.mce.2005.12.011; PubMed=16414182 [NCBI, ExPASy, EBI, Israel, Japan] Oh H.J., Lau Y.F.; "KRAB: a partner for SRY action on chromatin."; Mol. Cell. Endocrinol. 247:47-52(2006).
[24]	STRUCTURE BY NMR OF 56-131. DOI=10.1016/0092-8674(95)90532-4; PubMed=7774012 [NCBI, ExPASy, EBI, Israel, Japan] Werner M.H., Huth J.R., Gronenborn A.M., Clore G.M.; "Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex."; Cell 81:705-714(1995).
[25]	STRUCTURE BY NMR OF 57-218. DOI=10.1006/jmbi.2001.4977; PubMed=11563911 [NCBI, ExPASy, EBI, Israel, Japan] Murphy E.C., Zhurkin V.B., Louis J.M., Cornilescu G., Clore G.M.; "Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation."; J. Mol. Biol. 312:481-499(2001).
[26]	REVIEW ON VARIANTS. DOI=10.1002/humu.1380020504; PubMed=8257986 [NCBI, ExPASy, EBI, Israel, Japan] Hawkins J.R.; "Mutational analysis of SRY in XY females."; Hum. Mutat. 2:347-350(1993).
[27]	REVIEW ON VARIANTS. DOI=10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.3.CO;2-C; PubMed=9143916 [NCBI, ExPASy, EBI, Israel, Japan] Cameron F.J., Sinclair A.H.; "Mutations in SRY and SOX9: testis-determining genes."; Hum. Mutat. 9:388-395(1997).
[28]	VARIANTS GDXY LEU-60 AND ILE-64. DOI=10.1038/348448A0; PubMed=2247149 [NCBI, ExPASy, EBI, Israel, Japan] Berta P., Hawkins J.R., Sinclair A.H., Taylor A., Griffiths B.L., Goodfellow P.N., Fellous M.; "Genetic evidence equating SRY and the testis-determining factor."; Nature 348:448-450(1990).
[29]	VARIANTS GDXY GLY-62; THR-78 AND TRP-133. DOI=10.1093/hmg/2.6.785; PubMed=8353496 [NCBI, ExPASy, EBI, Israel, Japan] Affara N.A., Chalmers I.J., Ferguson-Smith M.A.; "Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain."; Hum. Mol. Genet. 2:785-789(1993).
[30]	VARIANT GDXY LEU-60. PubMed=1570829 [NCBI, ExPASy, EBI, Israel, Japan] Vilain E., McElreavey K., Jaubert F., Raymond J.-P., Richaud F., Fellous M.; "Familial case with sequence variant in the testis-determining region associated with two sex phenotypes."; Am. J. Hum. Genet. 50:1008-1011(1992).
[31]	VARIANTS GDXY MET-90 AND ILE-106. PubMed=1415266 [NCBI, ExPASy, EBI, Israel, Japan] Hawkins J.R., Taylor A., Goodfellow P.N., Migeon C.J., Smith K.D., Berkovitz G.D.; "Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis."; Am. J. Hum. Genet. 51:979-984(1992).
[32]	VARIANT GDXY ARG-95. DOI=10.1007/BF00215684; PubMed=1339396 [NCBI, ExPASy, EBI, Israel, Japan] Hawkins J.R., Taylor A., Berta P., Levilliers J., van der Auwera B., Goodfellow P.N.; "Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal."; Hum. Genet. 88:471-474(1992).
[33]	VARIANT GDXY HIS-101. PubMed=8447323 [NCBI, ExPASy, EBI, Israel, Japan] Braun A., Kammerer S., Cleve H., Loehrs U., Schwarz H.-P., Kuhnle U.; "True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case."; Am. J. Hum. Genet. 52:578-585(1993).
[34]	VARIANT GDXY SER-109. DOI=10.1007/BF00220457; PubMed=1483689 [NCBI, ExPASy, EBI, Israel, Japan] Jaeger R.J., Harley V.R., Pfeiffer R.A., Goodfellow P.N., Scherer G.; "A familial mutation in the testis-determining gene SRY shared by both sexes."; Hum. Genet. 90:350-355(1992).
[35]	VARIANT GDXY THR-113. PubMed=8105086 [NCBI, ExPASy, EBI, Israel, Japan] Zeng Y., Ren Z., Zhang M., Huang Y., Zeng F., Huang S.; "A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis."; J. Med. Genet. 30:655-657(1993).
[36]	VARIANT GDXY CYS-127. DOI=10.1002/humu.1380030305; PubMed=8019555 [NCBI, ExPASy, EBI, Israel, Japan] Poulat F., Soulier S., Goze C., Heitz F., Calas B., Berta P.; "Description and functional implications of a novel mutation in the sex-determining gene SRY."; Hum. Mutat. 3:200-204(1994).
[37]	VARIANT GDXY THR-68. DOI=10.1126/science.7985018; PubMed=7985018 [NCBI, ExPASy, EBI, Israel, Japan] Haqq C.M., King C.Y., Ukiyama E., Falsafi S., Haqq T.N., Donahoe P.K., Weiss M.A.; "Molecular basis of mammalian sexual determination: activation of Mullerian inhibiting substance gene expression by SRY."; Science 266:1494-1500(1994).
[38]	VARIANTS GDXY GLY-91 AND LEU-125. PubMed=7717397 [NCBI, ExPASy, EBI, Israel, Japan] Schmitt-Ney M., Thiele H., Kaltwasser P., Bardoni B., Cisternino M., Scherer G.; "Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers."; Am. J. Hum. Genet. 56:862-869(1995).
[39]	VARIANT GDXY ALA-60. DOI=10.1016/S0022-3476(95)70247-4; PubMed=7776083 [NCBI, ExPASy, EBI, Israel, Japan] Hiort O., Klaubert G.T.; "True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene."; J. Pediatr. 126:1022-1022(1995).
[40]	VARIANT GDXY ARG-131. Lundberg Y., Ritzen M., Harlin J., Wedell A.; "Novel missense mutation (P131R) in the HMG box of SRY in XY sex reversal."; Hum. Mutat. Suppl. 1:S328-S328(1998).
[41]	VARIANTS GDXY ARG-64 AND VAL-67. PubMed=9678356 [NCBI, ExPASy, EBI, Israel, Japan] Scherer G., Held M., Erdel M., Meschede D., Horst J., Lesniewicz R., Midro A.T.; "Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations."; Cytogenet. Cell Genet. 80:188-192(1998).
[42]	VARIANT GDXY ASN-18. DOI=10.1007/s004390050680; PubMed=9521592 [NCBI, ExPASy, EBI, Israel, Japan] Domenice S., Nishi M.Y., Billerbeck A.E.C., Latronico A.C., Medeiros M.A., Russell A.J., Vass K., Carvalho F.M., Costa-Frade E.M., Arnhold I.J.P., Mendonca B.B.; "A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives."; Hum. Genet. 102:213-215(1998).
[43]	VARIANT GDXY MET-90. DOI=10.1002/(SICI)1098-1004(1998)11:1<90::AID-HUMU14>3.3.CO;2-3; PubMed=9450909 [NCBI, ExPASy, EBI, Israel, Japan] Doerk T., Stuhrmann M., Miller K., Schmidtke J.; "Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis."; Hum. Mutat. 11:90-91(1998).
[44]	INVOLVEMENT IN TRUE HERMAPHRODITISM. PubMed=9652903 [NCBI, ExPASy, EBI, Israel, Japan] Inoue H., Nomura M., Yanase T., Ichino I., Goto K., Ikuyama S., Takayanagi R., Nawata H.; "A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads."; Intern. Med. 37:467-471(1998).
[45]	VARIANT GDXY SER-76. PubMed=10670762 [NCBI, ExPASy, EBI, Israel, Japan] Imai A., Takagi A., Tamaya T.; "A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father."; Endocr. J. 46:735-739(1999).
[46]	VARIANT GDXY ARG-108. Jakubiczka S., Bettecken T., Stumm M., Neulen J., Wieacker P.; "Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome."; Hum. Mutat. 13:85-85(1999).
[47]	INVOLVEMENT IN TRUE HERMAPHRODITISM. DOI=10.1002/(SICI)1096-8628(20000103)90:1<25::AID-AJMG5>3.0.CO;2-5; PubMed=10602113 [NCBI, ExPASy, EBI, Israel, Japan] Margarit E., Coll M.D., Oliva R., Gomez D., Soler A., Ballesta F.; "SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite."; Am. J. Med. Genet. 90:25-28(2000).
[48]	VARIANT GDXY GLU-95. DOI=10.1210/jc.85.6.2287; PubMed=10852465 [NCBI, ExPASy, EBI, Israel, Japan] Schaeffler A., Barth N., Winkler K., Zietz B., Ruemmele P., Knuechel R., Schoelmerich J., Palitzsch K.-D.; "Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor."; J. Clin. Endocrinol. Metab. 85:2287-2292(2000).
[49]	VARIANT GDXY/TURNER SYNDROME ASN-18. DOI=10.1210/jc.85.5.1908; PubMed=10843173 [NCBI, ExPASy, EBI, Israel, Japan] Canto P., de la Chesnaye E., Lopez M., Cervantes A., Chavez B., Vilchis F., Reyes E., Ulloa-Aguirre A., Kofman-Alfaro S., Mendez J.P.; "A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism."; J. Clin. Endocrinol. Metab. 85:1908-1911(2000).
[50]	VARIANT GDXY TYR-87. DOI=10.1007/s100380050026; PubMed=10721678 [NCBI, ExPASy, EBI, Israel, Japan] Okuhara K., Tajima T., Nakae J., Fujieda K.; "A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal."; J. Hum. Genet. 45:112-114(2000).
[51]	VARIANT GDXY PHE-127. DOI=10.1210/jc.87.7.3428; PubMed=12107262 [NCBI, ExPASy, EBI, Israel, Japan] Jordan B.K., Jain M., Natarajan S., Frasier S.D., Vilain E.; "Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father."; J. Clin. Endocrinol. Metab. 87:3428-3432(2002).
[52]	VARIANT TRUE HERMAPHRODITISM MET-90. PubMed=12793612 [NCBI, ExPASy, EBI, Israel, Japan] Maier E.M., Leitner C., Lohrs U., Kuhnle U.; "True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene."; J. Pediatr. Endocrinol. Metab. 16:575-580(2003).
[53]	VARIANT GDXY LEU-3. DOI=10.1038/sj.ejhg.5201719; PubMed=17063144 [NCBI, ExPASy, EBI, Israel, Japan] Gimelli G., Gimelli S., Dimasi N., Bocciardi R., Battista E.D., Pramparo T., Zuffardi O.; "Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis."; Eur. J. Hum. Genet. 15:76-80(2007).

Comments

FUNCTION: Transcriptional regulator which control a genetic switch in male development. It is necessary and sufficient for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity). In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity). Involved in different aspects of gene regulation including promoter activation or repression (By similarity). Facilitates DNA bending. SRY HMG box recognizes DNA by partial intercalation in the minor groove. Also involved in pre-mRNA splicing. Binds to the DNA consensus sequence 5'-[AT]AACAA[AT]-3' (By similarity).
SUBUNIT: Interacts with CALM, EP300, HDAC3, KPNB1, ZNF208 isoform KRAB-O, PARP1, SLC9A3R2 and WT1. The interaction with EP300 modulates its DNA-binding activity. The interaction with KPNB1 is sensitive to dissociation by Ran in the GTP-bound form (By similarity). Interaction with PARP1 impaired its DNA-binding activity (By similarity).
INTERACTION:
P84022:SMAD3; NbExp=1; IntAct=EBI-464987, EBI-347161;
SUBCELLULAR LOCATION: Nucleus speckle. Cytoplasm. Note=Colocalizes with SOX6 in speckles. Colocalizes with CAML in the nucleus. Colocalizes in the nucleus with ZNF208 isoform KRAB-O and tyrosine hydroxylase (TH) (By similarity).
PTM: Phosphorylated on serine residues by PKA. Phosphorylation by PKA enhances its DNA-binding activity and stimulates transcription repression. Acetylation of Lys-136 contributes to its nuclear localization and enhances its interaction with KPNB1. Deacetylated by HDAC3. Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its DNA-binding activity.
DISEASE: Defects in SRY are a cause of gonadal dysgenesis XY female type (GDXY) [MIM:306100]; also known as 'XY females' or Swyer syndrome. Patients are found to have a 46,XY karyotype. They suffer rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal. In contrast, subjects with 46,XY partial gonadal dysgenesis have ambiguous genitalia, a mix of Muellerian and Wolffian structures, and dysgenic gonads.
DISEASE: Defects in SRY are found in Turner syndrome, a disease characterized by gonadal dysgenesis with short stature, "streak gonads", variable abnormalities such as webbing of the neck, cubitus valgus, cardiac defects, low posterior hair line. The phenotype is female. Turner syndrome has its basis in a 45,X chromosomal aberration.
DISEASE: Defects in SRY are a cause of true hermaphroditism [MIM:235600]. A true hermaphrodite must have both mature ovarian and mature testicular tissue with histologic evidence of follicles and tubules, respectively. It is a genetically heterogeneous condition. The genotype of most affected individuals is 46,XX, but many have 46,XY or a mosaic of 46,XX/46,XY. True hermaphroditism can be caused also by chromosomal translocation.
MISCELLANEOUS: DNA binding and bending properties of the HMG domains of human and mouse SRY differ form each other. Human SRY shows more extensive minor groove contacts with DNA and a lower specificity of sequence recognition than mouse SRY.
SIMILARITY: Belongs to the SRY family.
SIMILARITY: Contains 1 HMG box DNA-binding domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=SRY";.
WEB RESOURCE: Name=Protein Spotlight; Note=The tenuous nature of sex - Issue 80 of March 2007; URL="http://www.expasy.org/spotlight/back_issues/sptlt080.shtml";.
WEB RESOURCE: Name=Wikipedia; Note=SRY entry; URL="http://en.wikipedia.org/wiki/SRY";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

X53772; CAA37790.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
L10101; AAA60590.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
L10102; AAA60591.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
L08063; AAA16878.1; -; Unassigned_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
X96421; CAA65281.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S53156; AAB25008.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
S56543; AAB25716.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC074923; AAH74923.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC074924; AAH74924.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI

IPI00011568; -.

PIR

A47533; A47533.

RefSeq

NP_003131.1; -.
XP_001713743.1; -.

UniGene

Hs.1992

3D structure databases

PDB

1HRY; NMR; -; A=56-131.	[ExPASy / RCSB / EBI]
1HRZ; NMR; -; A=56-131.	[ExPASy / RCSB / EBI]
1J46; NMR; -; A=57-140.	[ExPASy / RCSB / EBI]
1J47; NMR; -; A=57-140.	[ExPASy / RCSB / EBI]

Detailed list of linked structures.

PDBsum

1HRY; -.
1HRZ; -.
1J46; -.
1J47; -.

ModBase

Q05066.

Protein-protein interaction databases

IntAct

Q05066; 1.

Enzyme and pathway databases

Pathway_Interaction_DB

ar_tf_pathway; Regulation of Androgen receptor activity.

Organism-specific databases

GeneCards

GC0YM002698; -.
GC0YM002714; -.

HIX0056699; -.

HGNC:11311; SRY.

SRY.

HPA003959; -.

235600; phenotype. [NCBI / EBI]
306100; gene+phenotype. [NCBI / EBI]
480000; gene. [NCBI / EBI]

Orphanet

983; Anorchidia, bilateral.
1772; Gonadal dysgenesis, mixed.
242; Gonadal dysgenesis, XY female type.
393; XX, male syndrome.

PharmGKB

PA36135; -.

Gene expression databases

ArrayExpress

Q05066; -.

CleanEx

HS_SRY; -.

GermOnline

ENSG00000184895; Homo sapiens.

Ontologies

GO:0005737;	Cellular component: cytoplasm (inferred from direct assay from HPA).
GO:0016607;	Cellular component: nuclear speck (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005515;	Molecular function: protein binding (inferred from physical interaction from IntAct).
GO:0016563;	Molecular function: transcription activator activity (non-traceable author statement from UniProtKB).
GO:0003700;	Molecular function: transcription factor activity (inferred from electronic annotation from InterPro).
GO:0030154;	Biological process: cell differentiation (inferred from electronic annotation from UniProtKB-KW).
GO:0030238;	Biological process: male sex determination (non-traceable author statement from UniProtKB).
GO:0006355;	Biological process: regulation of transcription, DNA-dependent (inferred from electronic annotation from UniProtKB-KW).
GO:0006350;	Biological process: transcription (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.

Family and domain databases

InterPro

IPR000910; HMG_HMG1/HMG2.
IPR017253; Sex-determining_region_Y.
Graphical view of domain structure.

Gene3D

G3DSA:1.10.30.10; HMG-box; 1.

Pfam

PF00505; HMG_box; 1.
Pfam graphical view of domain structure.

PIRSF

PIRSF037653; SRY; 1.

SMART

SM00398; HMG; 1.
SMART graphical view of domain structure.

PROSITE

PS50118; HMG_BOX_2; 1.
PROSITE graphical view of domain structure (profiles).

Proteomic databases

PRIDE

Q05066; -.

Genome annotation databases

Ensembl

ENSG00000184895; Homo sapiens. [Contig view]

GeneID

100130809; -.
6736; -.

KEGG

hsa:100130809; -.
hsa:6736; -.

Phylogenomic databases

HOGENOM

Q05066; -.

HOVERGEN

Q05066; -.

OMA

Q05066; ALENPRM.

Other

SRY; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

3D-structure; Acetylation; Activator; ADP-ribosylation; Chromosomal rearrangement; Cytoplasm; Differentiation; Disease mutation; DNA-binding; Nucleus; Repressor; Sexual differentiation; Transcription; Transcription regulation.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 204`	`204`	`Sex-determining region Y protein.`	`PRO_0000048671`
`DNA_BIND`	`60 128`	`69`	`HMG box.`
`REGION`	`59 136`	`78`	`Sufficient for interaction with KPNB1.`
`REGION`	`61 77`	`17`	`Required for nuclear localization.`
`REGION`	`107 139`	`33`	`Sufficient for interaction with EP300.`
`REGION`	`130 136`	`7`	`Required for nuclear localization.`
`REGION`	`138 155`	`18`	`Necessary for interaction with ZNF208 isoform KRAB-O.`
`REGION`	`198 204`	`7`	`Necessary for interaction with SLC9A3R2.`
`MOD_RES`	`136 136`		`N6-acetyllysine.`
`VARIANT`	`3 3`	`1`	`S -> L (in GDXY).`	`VAR_030019`
`VARIANT`	`18 18`	`1`	`S -> N (in GDXY; partial; also in two patients with a Turner syndrome phenotype).`	`VAR_003717`
`VARIANT`	`60 60`	`1`	`V -> A (in GDXY).`	`VAR_003718`
`VARIANT`	`60 60`	`1`	`V -> L (in GDXY).`	`VAR_003719`
`VARIANT`	`62 62`	`1`	`R -> G (in GDXY).`	`VAR_003720`
`VARIANT`	`64 64`	`1`	`M -> I (in GDXY).`	`VAR_003721`
`VARIANT`	`64 64`	`1`	`M -> R (in GDXY).`	`VAR_017298`
`VARIANT`	`67 67`	`1`	`F -> V (in GDXY).`	`VAR_017299`
`VARIANT`	`68 68`	`1`	`I -> T (in GDXY).`	`VAR_003722`
`VARIANT`	`76 76`	`1`	`R -> S (in GDXY; XY sex reversal).`	`VAR_017300`
`VARIANT`	`78 78`	`1`	`M -> T (in GDXY).`	`VAR_003723`
`VARIANT`	`87 87`	`1`	`N -> Y (in GDXY; XY sex reversal).`	`VAR_017301`
`VARIANT`	`90 90`	`1`	`I -> M (in GDXY and true hermaphroditism).`	`VAR_003724`
`VARIANT`	`91 91`	`1`	`S -> G (in GDXY; XY sex reversal).`	`VAR_003725`
`VARIANT`	`95 95`	`1`	`G -> E (in GDXY).`	`VAR_017302`
`VARIANT`	`95 95`	`1`	`G -> R (in GDXY).`	`VAR_003726`
`VARIANT`	`101 101`	`1`	`L -> H (in GDXY).`	`VAR_003727`
`VARIANT`	`106 106`	`1`	`K -> I (in GDXY).`	`VAR_003728`
`VARIANT`	`108 108`	`1`	`P -> R (in GDXY).`	`VAR_003729`
`VARIANT`	`109 109`	`1`	`F -> S (in GDXY).`	`VAR_003730`
`VARIANT`	`113 113`	`1`	`A -> T (in GDXY).`	`VAR_003731`
`VARIANT`	`125 125`	`1`	`P -> L (in GDXY; XY sex reversal).`	`VAR_003732`
`VARIANT`	`127 127`	`1`	`Y -> C (in GDXY; XY sex reversal).`	`VAR_003733`
`VARIANT`	`127 127`	`1`	`Y -> F (in GDXY).`	`VAR_017303`
`VARIANT`	`131 131`	`1`	`P -> R (in GDXY; XY sex reversal).`	`VAR_017304`
`VARIANT`	`133 133`	`1`	`R -> W (in GDXY).`	`VAR_003734`
`MUTAGEN`	`31 33`		`SSS->AAA: Abolishes its phosphorylation by PKA. Does not enhance its DNA-binding activity. Abolishes stimulation of transcription repression.`
`MUTAGEN`	`62 62`		`R->G: Strongly reduces nuclear localization. Strongly reduces nuclear localization; when associated with W-133. Reduces interaction with KPNB1. Abolishes DNA-binding.`
`MUTAGEN`	`64 64`		`M->I: Abolishes nuclear localization.`
`MUTAGEN`	`75 75`		`R->N: Strongly reduces nuclear localization. Abolishes DNA-binding. Does not reduce interaction with KPNB1 and CAML.`
`MUTAGEN`	`76 76`		`R->P: Reduces nuclear localization. Reduces DNA-binding. Does not reduce interaction with KPNB1 and CAML.`
`MUTAGEN`	`115 115`		`K->R: Does not abolish acetylation activity.`
`MUTAGEN`	`123 123`		`K->R: Does not abolish acetylation.`
`MUTAGEN`	`128 128`		`K->R: Does not abolish acetylation.`
`MUTAGEN`	`133 133`		`R->W: Reduces nuclear localization. Strongly reduces nuclear localization; when associated with G-62. Reduces interaction with KPNB1. Does not reduce interaction with CAML. Does not abolish DNA-binding.`
`MUTAGEN`	`134 134`		`K->R: Does not abolish acetylation.`
`MUTAGEN`	`136 136`		`K->R: Abolishes acetylation. Does not abolish interaction with EP300. Does not abolish DNA-binding. Enhances cytoplasmic localization. Abolishes interaction with KPNB1.`
`HELIX`	`66 81`	`16`
`STRAND`	`86 88`	`3`
`HELIX`	`89 99`	`11`
`HELIX`	`103 123`	`21`
`STRAND`	`124 126`	`3`

Sequence information

Length: 204 AA [This is the length of the unprocessed precursor]

Molecular weight: 23884 Da [This is the MW of the unprocessed precursor]

CRC64: 84323C30A9C2173E [This is a checksum on the sequence]

        10         20         30         40         50         60 
MQSYASAMLS VFNSDDYSPA VQENIPALRR SSSFLCTESC NSKYQCETGE NSKGNVQDRV 

        70         80         90        100        110        120 
KRPMNAFIVW SRDQRRKMAL ENPRMRNSEI SKQLGYQWKM LTEAEKWPFF QEAQKLQAMH 

       130        140        150        160        170        180 
REKYPNYKYR PRRKAKMLPK NCSLLPADPA SVLCSEVQLD NRLYRDDCTK ATHSRMEHQL 

       190        200 
GHLPPINAAS SPQQRDRYSH WTKL

Q05066 in FASTA format

View entry in raw text format (no links)
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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools