Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Sex-determining region Y protein (Testis-determining factor)

 SRY_HUMAN               Reviewed;         204 AA.
Q05066;
01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
01-JUN-1994, sequence version 1.
22-NOV-2017, entry version 186.
RecName: Full=Sex-determining region Y protein;
AltName: Full=Testis-determining factor;
Name=SRY; Synonyms=TDF;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=1695712; DOI=10.1038/346240a0;
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;
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].
PubMed=8244390; DOI=10.1006/geno.1993.1395;
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].
PubMed=7557997; DOI=10.1006/geno.1995.1047;
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].
PubMed=15489334; DOI=10.1101/gr.2596504;
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;
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.
PubMed=8265659; DOI=10.1073/pnas.90.24.11990;
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.
PubMed=8159753; DOI=10.1073/pnas.91.8.3368;
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.
PubMed=9054412; DOI=10.1074/jbc.272.11.7167;
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.
PubMed=9525897; DOI=10.1074/jbc.273.14.7988;
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.
PubMed=10732804; DOI=10.1007/s100480050042;
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.
PubMed=11818535; DOI=10.1073/pnas.022645899;
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.
PubMed=12970737; DOI=10.1038/sj.onc.1206717;
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.
PubMed=12764225; DOI=10.1073/pnas.1137864100;
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; DOI=10.2174/0929866033479004;
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.
PubMed=15170344; DOI=10.1021/bi049920a;
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.
PubMed=15297880; DOI=10.1038/sj.emboj.7600352;
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.
PubMed=15469996; DOI=10.1095/biolreprod.104.034447;
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.
PubMed=15746192; DOI=10.1210/me.2004-0334;
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.
PubMed=16762365; DOI=10.1016/j.jmb.2006.04.048;
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, AND ADP-RIBOSYLATION.
PubMed=16904257; DOI=10.1016/j.mce.2006.06.008;
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.
PubMed=16996051; DOI=10.1016/j.ydbio.2006.08.049;
Polanco J.C., Koopman P.;
"Sry and the hesitant beginnings of male development.";
Dev. Biol. 302:13-24(2007).
[23]
REVIEW.
PubMed=16414182; DOI=10.1016/j.mce.2005.12.011;
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 IN COMPLEX WITH DNA.
PubMed=7774012; DOI=10.1016/0092-8674(95)90532-4;
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 IN COMPLEX WITH DNA, CHARACTERIZATION OF
VARIANT SRXY1 ILE-64, AND FUNCTION.
PubMed=11563911; DOI=10.1006/jmbi.2001.4977;
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]
STRUCTURE BY NMR OF 56-130 IN COMPLEX WITH DNA.
PubMed=16813837; DOI=10.1016/j.jmb.2006.04.059;
Stott K., Tang G.S., Lee K.B., Thomas J.O.;
"Structure of a complex of tandem HMG boxes and DNA.";
J. Mol. Biol. 360:90-104(2006).
[27]
REVIEW ON VARIANTS.
PubMed=8257986; DOI=10.1002/humu.1380020504;
Hawkins J.R.;
"Mutational analysis of SRY in XY females.";
Hum. Mutat. 2:347-350(1993).
[28]
REVIEW ON VARIANTS.
PubMed=9143916;
DOI=10.1002/(SICI)1098-1004(1997)9:5<388::AID-HUMU2>3.0.CO;2-0;
Cameron F.J., Sinclair A.H.;
"Mutations in SRY and SOX9: testis-determining genes.";
Hum. Mutat. 9:388-395(1997).
[29]
VARIANTS SRXY1 LEU-60 AND ILE-64.
PubMed=2247149; DOI=10.1038/348448A0;
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).
[30]
VARIANTS SRXY1 GLY-62; THR-78 AND TRP-133.
PubMed=8353496; DOI=10.1093/hmg/2.6.785;
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).
[31]
VARIANT SRXY1 LEU-60.
PubMed=1570829;
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).
[32]
VARIANTS SRXY1 MET-90 AND ILE-106.
PubMed=1415266;
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).
[33]
VARIANT SRXY1 ARG-95.
PubMed=1339396; DOI=10.1007/BF00215684;
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).
[34]
VARIANT SRXY1 HIS-101.
PubMed=8447323;
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).
[35]
VARIANT SRXY1 SER-109.
PubMed=1483689; DOI=10.1007/BF00220457;
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).
[36]
VARIANT SRXY1 THR-113.
PubMed=8105086; DOI=10.1136/jmg.30.8.655;
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).
[37]
VARIANT SRXY1 CYS-127.
PubMed=8019555; DOI=10.1002/humu.1380030305;
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).
[38]
VARIANT SRXY1 THR-68.
PubMed=7985018; DOI=10.1126/science.7985018;
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).
[39]
VARIANTS SRXY1 GLY-91 AND LEU-125.
PubMed=7717397;
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).
[40]
VARIANT SRXY1 ALA-60.
PubMed=7776083; DOI=10.1016/S0022-3476(95)70247-4;
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).
[41]
VARIANT SRXY1 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).
[42]
VARIANTS SRXY1 ARG-64 AND VAL-67.
PubMed=9678356;
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).
[43]
VARIANT SRXY1 ASN-18.
PubMed=9521592; DOI=10.1007/s004390050680;
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).
[44]
VARIANT SRXY1 MET-90.
PubMed=9450909;
DOI=10.1002/(SICI)1098-1004(1998)11:1<90::AID-HUMU14>3.0.CO;2-U;
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).
[45]
INVOLVEMENT IN SRXX1.
PubMed=9652903;
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).
[46]
VARIANT SRXY1 SER-76.
PubMed=10670762; DOI=10.1507/endocrj.46.735;
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).
[47]
VARIANT SRXY1 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).
[48]
INVOLVEMENT IN SRXX1.
PubMed=10602113;
DOI=10.1002/(SICI)1096-8628(20000103)90:1<25::AID-AJMG5>3.0.CO;2-5;
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).
[49]
VARIANT SRXY1 GLU-95.
PubMed=10852465; DOI=10.1210/jcem.85.6.6637;
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).
[50]
VARIANT SRXY1 ASN-18.
PubMed=10843173; DOI=10.1210/jcem.85.5.6609;
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).
[51]
VARIANT SRXY1 TYR-87.
PubMed=10721678; DOI=10.1007/s100380050026;
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).
[52]
VARIANT SRXY1 PHE-127.
PubMed=12107262; DOI=10.1210/jcem.87.7.8646;
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).
[53]
VARIANT SRXY1 MET-90.
PubMed=12793612; DOI=10.1515/JPEM.2003.16.4.575;
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).
[54]
VARIANT SRXY1 LEU-3.
PubMed=17063144; DOI=10.1038/sj.ejhg.5201719;
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).
[55]
INVOLVEMENT IN SRXY1, VARIANT SRXY1 MET-75, CHARACTERIZATION OF
VARIANT SRXY1 MET-75, AND SUBCELLULAR LOCATION.
PubMed=28030592; DOI=10.1371/journal.pone.0168484;
Fan W., Wang B., He S., Zhang T., Yin C., Chen Y., Zheng S., Zhang J.,
Li L.;
"A novel missense mutation 224G>T (R75M) in SRY coding region
interferes with nuclear import and results in 46, XY complete gonadal
dysgenesis.";
PLoS ONE 11:E0168484-E0168484(2016).
-!- FUNCTION: Transcriptional regulator that controls 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).
Promotes 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'.
{ECO:0000250, ECO:0000269|PubMed:11563911,
ECO:0000269|PubMed:11818535, ECO:0000269|PubMed:15170344,
ECO:0000269|PubMed:16762365}.
-!- 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). {ECO:0000250}.
-!- SUBCELLULAR LOCATION: Nucleus speckle
{ECO:0000269|PubMed:11818535}. Cytoplasm
{ECO:0000269|PubMed:15297880}. Nucleus
{ECO:0000269|PubMed:15297880, ECO:0000269|PubMed:15746192,
ECO:0000269|PubMed:28030592}. Note=Acetylation contributes to its
nuclear localization and deacetylation by HDAC3 induces a
cytoplasmic delocalization (PubMed:15297880). Colocalizes with
SOX6 in speckles (PubMed:11818535). Colocalizes with CAML in the
nucleus (PubMed:15746192). Colocalizes in the nucleus with ZNF208
isoform KRAB-O and tyrosine hydroxylase (TH) (By similarity).
{ECO:0000250|UniProtKB:Q05738, ECO:0000269|PubMed:11818535,
ECO:0000269|PubMed:15297880, ECO:0000269|PubMed:15746192}.
-!- DOMAIN: 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.
-!- PTM: Phosphorylated on serine residues by PKA. Phosphorylation by
PKA enhances its DNA-binding activity and stimulates transcription
repression. {ECO:0000269|PubMed:9525897}.
-!- PTM: Acetylation of Lys-136 contributes to its nuclear
localization and enhances its interaction with KPNB1. Deacetylated
by HDAC3. {ECO:0000269|PubMed:15297880}.
-!- PTM: Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its
DNA-binding activity.
-!- DISEASE: 46,XY sex reversal 1 (SRXY1) [MIM:400044]: A condition
characterized by male-to-female sex reversal in the presence of a
normal 46,XY karyotype. Patients manifest 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. {ECO:0000269|PubMed:10670762,
ECO:0000269|PubMed:10721678, ECO:0000269|PubMed:10843173,
ECO:0000269|PubMed:10852465, ECO:0000269|PubMed:11563911,
ECO:0000269|PubMed:12107262, ECO:0000269|PubMed:12793612,
ECO:0000269|PubMed:1339396, ECO:0000269|PubMed:1415266,
ECO:0000269|PubMed:1483689, ECO:0000269|PubMed:1570829,
ECO:0000269|PubMed:17063144, ECO:0000269|PubMed:2247149,
ECO:0000269|PubMed:28030592, ECO:0000269|PubMed:7717397,
ECO:0000269|PubMed:7776083, ECO:0000269|PubMed:7985018,
ECO:0000269|PubMed:8019555, ECO:0000269|PubMed:8105086,
ECO:0000269|PubMed:8353496, ECO:0000269|PubMed:8447323,
ECO:0000269|PubMed:9450909, ECO:0000269|PubMed:9521592,
ECO:0000269|PubMed:9678356, ECO:0000269|Ref.41,
ECO:0000269|Ref.47}. Note=The disease is caused by mutations
affecting the gene represented in this entry.
-!- DISEASE: Note=A 45,X chromosomal aberration involving SRY is 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.
-!- DISEASE: 46,XX sex reversal 1 (SRXX1) [MIM:400045]: A condition in
which male gonads develop in a genetic female (female to male sex
reversal). {ECO:0000269|PubMed:10602113,
ECO:0000269|PubMed:9652903}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the SRY family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Protein Spotlight; Note=The tenuous nature of
sex - Issue 80 of March 2007;
URL="https://web.expasy.org/spotlight/back_issues/080";
-!- WEB RESOURCE: Name=Wikipedia; Note=SRY entry;
URL="https://en.wikipedia.org/wiki/SRY";
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; X53772; CAA37790.1; -; Genomic_DNA.
EMBL; L10101; AAA60590.1; -; mRNA.
EMBL; L10102; AAA60591.1; -; Genomic_DNA.
EMBL; L08063; AAA16878.1; -; Genomic_DNA.
EMBL; X96421; CAA65281.1; -; Genomic_DNA.
EMBL; S53156; AAB25008.1; -; mRNA.
EMBL; S56543; AAB25716.1; -; mRNA.
EMBL; BC074923; AAH74923.1; -; mRNA.
EMBL; BC074924; AAH74924.1; -; mRNA.
CCDS; CCDS14772.1; -.
PIR; A47533; A47533.
RefSeq; NP_003131.1; NM_003140.2.
UniGene; Hs.1992; -.
PDB; 1HRY; NMR; -; A=56-131.
PDB; 1HRZ; NMR; -; A=56-131.
PDB; 1J46; NMR; -; A=57-140.
PDB; 1J47; NMR; -; A=57-140.
PDB; 2GZK; NMR; -; A=56-130.
PDBsum; 1HRY; -.
PDBsum; 1HRZ; -.
PDBsum; 1J46; -.
PDBsum; 1J47; -.
PDBsum; 2GZK; -.
ProteinModelPortal; Q05066; -.
SMR; Q05066; -.
BioGrid; 112614; 19.
IntAct; Q05066; 1.
MINT; MINT-1367278; -.
STRING; 9606.ENSP00000372547; -.
iPTMnet; Q05066; -.
PhosphoSitePlus; Q05066; -.
DMDM; 548983; -.
PaxDb; Q05066; -.
PRIDE; Q05066; -.
DNASU; 6736; -.
Ensembl; ENST00000383070; ENSP00000372547; ENSG00000184895.
GeneID; 6736; -.
KEGG; hsa:6736; -.
UCSC; uc004fqg.3; human.
CTD; 6736; -.
DisGeNET; 6736; -.
EuPathDB; HostDB:ENSG00000184895.7; -.
GeneCards; SRY; -.
GeneReviews; SRY; -.
HGNC; HGNC:11311; SRY.
MalaCards; SRY; -.
MIM; 400044; phenotype.
MIM; 400045; phenotype.
MIM; 480000; gene.
neXtProt; NX_Q05066; -.
OpenTargets; ENSG00000184895; -.
Orphanet; 1772; 45,X/46,XY mixed gonadal dysgenesis.
Orphanet; 2138; 46,XX ovotesticular disorder of sex development.
Orphanet; 393; 46,XX testicular disorder of sex development.
Orphanet; 242; 46,XY complete gonadal dysgenesis.
Orphanet; 251510; 46,XY partial gonadal dysgenesis.
PharmGKB; PA36135; -.
eggNOG; KOG0527; Eukaryota.
eggNOG; ENOG410XT0K; LUCA.
GeneTree; ENSGT00760000118988; -.
HOGENOM; HOG000008601; -.
HOVERGEN; HBG008712; -.
InParanoid; Q05066; -.
KO; K09266; -.
OMA; DCTKATH; -.
OrthoDB; EOG091G0JDD; -.
PhylomeDB; Q05066; -.
Reactome; R-HSA-3769402; Deactivation of the beta-catenin transactivating complex.
SignaLink; Q05066; -.
SIGNOR; Q05066; -.
EvolutionaryTrace; Q05066; -.
GeneWiki; SRY; -.
GenomeRNAi; 6736; -.
PRO; PR:Q05066; -.
Proteomes; UP000005640; Chromosome Y.
Bgee; ENSG00000184895; -.
CleanEx; HS_SRY; -.
ExpressionAtlas; Q05066; baseline and differential.
Genevisible; Q05066; HS.
GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
GO; GO:0016607; C:nuclear speck; IEA:UniProtKB-SubCell.
GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0005516; F:calmodulin binding; IEA:UniProtKB-KW.
GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
GO; GO:0003705; F:transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding; IDA:UniProtKB.
GO; GO:0008134; F:transcription factor binding; IPI:UniProtKB.
GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
GO; GO:0030238; P:male sex determination; NAS:UniProtKB.
GO; GO:2000020; P:positive regulation of male gonad development; IDA:UniProtKB.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0007548; P:sex differentiation; IEA:UniProtKB-KW.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
Gene3D; 1.10.30.10; -; 1.
InterPro; IPR009071; HMG_box_dom.
InterPro; IPR036910; HMG_box_dom_sf.
InterPro; IPR017253; SRY.
PANTHER; PTHR10270:SF199; PTHR10270:SF199; 1.
Pfam; PF00505; HMG_box; 1.
PIRSF; PIRSF037653; SRY; 1.
SMART; SM00398; HMG; 1.
SUPFAM; SSF47095; SSF47095; 1.
PROSITE; PS50118; HMG_BOX_2; 1.
1: Evidence at protein level;
3D-structure; Acetylation; Activator; ADP-ribosylation;
Calmodulin-binding; Chromosomal rearrangement; Complete proteome;
Cytoplasm; Differentiation; Disease mutation; DNA-binding; Nucleus;
Reference proteome; Repressor; Sexual differentiation; Transcription;
Transcription regulation.
CHAIN 1 204 Sex-determining region Y protein.
/FTId=PRO_0000048671.
DNA_BIND 60 128 HMG box. {ECO:0000255|PROSITE-
ProRule:PRU00267}.
REGION 59 136 Sufficient for interaction with KPNB1.
REGION 61 77 Required for nuclear localization.
REGION 107 139 Sufficient for interaction with EP300.
{ECO:0000269|PubMed:15297880}.
REGION 130 136 Required for nuclear localization.
REGION 138 155 Necessary for interaction with ZNF208
isoform KRAB-O.
REGION 198 204 Necessary for interaction with SLC9A3R2.
{ECO:0000269|PubMed:9054412}.
MOD_RES 136 136 N6-acetyllysine.
{ECO:0000269|PubMed:15297880}.
VARIANT 3 3 S -> L (in SRXY1).
{ECO:0000269|PubMed:17063144}.
/FTId=VAR_030019.
VARIANT 18 18 S -> N (in SRXY1; partial; also in two
patients with a Turner syndrome
phenotype; dbSNP:rs104894971).
{ECO:0000269|PubMed:10843173,
ECO:0000269|PubMed:9521592}.
/FTId=VAR_003717.
VARIANT 60 60 V -> A (in SRXY1; dbSNP:rs764249635).
{ECO:0000269|PubMed:7776083}.
/FTId=VAR_003718.
VARIANT 60 60 V -> L (in SRXY1; dbSNP:rs104894957).
{ECO:0000269|PubMed:1570829,
ECO:0000269|PubMed:2247149}.
/FTId=VAR_003719.
VARIANT 62 62 R -> G (in SRXY1).
{ECO:0000269|PubMed:8353496}.
/FTId=VAR_003720.
VARIANT 64 64 M -> I (in SRXY1; alters interaction with
DNA and DNA bending; dbSNP:rs104894969).
{ECO:0000269|PubMed:11563911,
ECO:0000269|PubMed:2247149}.
/FTId=VAR_003721.
VARIANT 64 64 M -> R (in SRXY1).
{ECO:0000269|PubMed:9678356}.
/FTId=VAR_017298.
VARIANT 67 67 F -> V (in SRXY1).
{ECO:0000269|PubMed:9678356}.
/FTId=VAR_017299.
VARIANT 68 68 I -> T (in SRXY1; dbSNP:rs104894968).
{ECO:0000269|PubMed:7985018}.
/FTId=VAR_003722.
VARIANT 75 75 R -> M (in SRXY1; localizes mainly in the
cytoplasm).
{ECO:0000269|PubMed:28030592}.
/FTId=VAR_078433.
VARIANT 76 76 R -> S (in SRXY1).
{ECO:0000269|PubMed:10670762}.
/FTId=VAR_017300.
VARIANT 78 78 M -> T (in SRXY1).
{ECO:0000269|PubMed:8353496}.
/FTId=VAR_003723.
VARIANT 87 87 N -> Y (in SRXY1).
{ECO:0000269|PubMed:10721678}.
/FTId=VAR_017301.
VARIANT 90 90 I -> M (in SRXY1; dbSNP:rs104894959).
{ECO:0000269|PubMed:12793612,
ECO:0000269|PubMed:1415266,
ECO:0000269|PubMed:9450909}.
/FTId=VAR_003724.
VARIANT 91 91 S -> G (in SRXY1).
{ECO:0000269|PubMed:7717397}.
/FTId=VAR_003725.
VARIANT 95 95 G -> E (in SRXY1; dbSNP:rs104894972).
{ECO:0000269|PubMed:10852465}.
/FTId=VAR_017302.
VARIANT 95 95 G -> R (in SRXY1; dbSNP:rs104894974).
{ECO:0000269|PubMed:1339396}.
/FTId=VAR_003726.
VARIANT 101 101 L -> H (in SRXY1).
{ECO:0000269|PubMed:8447323}.
/FTId=VAR_003727.
VARIANT 106 106 K -> I (in SRXY1; dbSNP:rs104894964).
{ECO:0000269|PubMed:1415266}.
/FTId=VAR_003728.
VARIANT 108 108 P -> R (in SRXY1). {ECO:0000269|Ref.47}.
/FTId=VAR_003729.
VARIANT 109 109 F -> S (in SRXY1; dbSNP:rs104894956).
{ECO:0000269|PubMed:1483689}.
/FTId=VAR_003730.
VARIANT 113 113 A -> T (in SRXY1; dbSNP:rs104894966).
{ECO:0000269|PubMed:8105086}.
/FTId=VAR_003731.
VARIANT 125 125 P -> L (in SRXY1).
{ECO:0000269|PubMed:7717397}.
/FTId=VAR_003732.
VARIANT 127 127 Y -> C (in SRXY1).
{ECO:0000269|PubMed:8019555}.
/FTId=VAR_003733.
VARIANT 127 127 Y -> F (in SRXY1; dbSNP:rs104894973).
{ECO:0000269|PubMed:12107262}.
/FTId=VAR_017303.
VARIANT 131 131 P -> R (in SRXY1). {ECO:0000269|Ref.41}.
/FTId=VAR_017304.
VARIANT 133 133 R -> W (in SRXY1; dbSNP:rs104894976).
{ECO:0000269|PubMed:8353496}.
/FTId=VAR_003734.
MUTAGEN 31 33 SSS->AAA: Abolishes its phosphorylation
by PKA. Does not enhance its DNA-binding
activity. Abolishes stimulation of
transcription repression.
{ECO:0000269|PubMed:9525897}.
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.
{ECO:0000269|PubMed:12764225}.
MUTAGEN 64 64 M->I: Abolishes nuclear localization.
{ECO:0000269|PubMed:16762365}.
MUTAGEN 75 75 R->N: Strongly reduces nuclear
localization. Abolishes DNA-binding. Does
not reduce interaction with KPNB1 and
CAML. {ECO:0000269|PubMed:12764225,
ECO:0000269|PubMed:15746192}.
MUTAGEN 76 76 R->P: Reduces nuclear localization.
Reduces DNA-binding. Does not reduce
interaction with KPNB1 and CAML.
{ECO:0000269|PubMed:12764225,
ECO:0000269|PubMed:15746192}.
MUTAGEN 115 115 K->R: Does not abolish acetylation
activity. {ECO:0000269|PubMed:15297880}.
MUTAGEN 123 123 K->R: Does not abolish acetylation.
{ECO:0000269|PubMed:15297880}.
MUTAGEN 128 128 K->R: Does not abolish acetylation.
{ECO:0000269|PubMed:15297880}.
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.
{ECO:0000269|PubMed:12764225,
ECO:0000269|PubMed:15746192}.
MUTAGEN 134 134 K->R: Does not abolish acetylation.
{ECO:0000269|PubMed:15297880}.
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. {ECO:0000269|PubMed:15297880}.
HELIX 66 81 {ECO:0000244|PDB:1HRY}.
STRAND 86 88 {ECO:0000244|PDB:1HRY}.
HELIX 89 99 {ECO:0000244|PDB:1HRY}.
HELIX 103 123 {ECO:0000244|PDB:1HRY}.
STRAND 124 126 {ECO:0000244|PDB:1HRY}.
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


Related products :

Catalog number Product name Quantity
EIAAB40004 Bos taurus,Bovine,Sex-determining region Y protein,SRY,TDF,Testis-determining factor
B30-001 SRY Bovine Host: E. coli Sex-determining region Y protein; Testis-determining factor 10
EIAAB39999 Mouse,Mus musculus,Sex-determining region Y protein,Sry,Tdf,Tdy,Testis-determining factor
EIAAB40003 Rat,Rattus norvegicus,Sex-determining region Y protein,Sry,Tdf,Testis-determining factor
EIAAB40000 Pig,Sex-determining region Y protein,SRY,Sus scrofa,TDF,Testis-determining factor
EIAAB40001 Homo sapiens,Human,Sex-determining region Y protein,SRY,TDF,Testis-determining factor
105-PA02S SRY Anti-Bovine Host: Rabbit Sex-determining region Y protein; Testis-determining factor 100
105-PA02 SRY Anti-Bovine Host: Rabbit Sex-determining region Y protein; Testis-determining factor 200
EIAAB40002 Canis familiaris,Canis lupus familiaris,Dog,Sex-determining region Y protein,SRY,TDF,Testis-determining factor
25-425 ZFY is a zinc finger-containing protein that may function as a transcription factor. ZFY was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF.This g 0.05 mg
25-229 SRY is an intronless gene that encodes for a transcription factor, which is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor 0.05 mg
EIAAB39272 Mouse,mSox13,Mus musculus,Sox13,Sox-13,SRY (Sex determining region Y)-box 13,Transcription factor SOX-13
CSB-EL022699RA Rat Sex-determining region Y protein(SRY) ELISA kit 96T
E13812284 Sex Determining Region Y Box Protein 1 ELISA Kit 1
E02S0148 Rat Sex Determining Region Y Box Protein 2 ELISA 96T/kit
CSB-EL022699CA Cat Sex-determining region Y protein(SRY) ELISA kit 96T
H0134 Sex-determining region Y protein (SRY), Pig, ELISA Kit 96T
GS-0074 SRY EMSA Kit: Sex-determining region Y protein 30 Reactions
E13812286 Sex Determining Region Y Box Protein 2 ELISA Kit 1
E02S0146 Rat Sex Determining Region Y Box Protein 1 ELISA 96T/kit
E02S0147 Rat Sex Determining Region Y Box Protein 18 ELISA 96T/kit
H0127 Sex-determining region Y protein (SRY), Cat, ELISA Kit 96T
E02S0149 Rat Sex Determining Region Y Box Protein 9 ELISA 96T/kit
E02S0150 Rat Sex Determining Region Y Box Protein 3 ELISA 96T/kit
E13812285 Sex Determining Region Y Box Protein 18 ELISA Kit 1


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur