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Q05066 (SRY_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 153. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Sex-determining region Y protein
Alternative name(s):
Testis-determining factor
Gene names
Name:SRY
Synonyms:TDF
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length204 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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'. Ref.12 Ref.16 Ref.20 Ref.25

Subunit structure

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. Ref.9 Ref.13 Ref.14 Ref.15 Ref.17 Ref.18 Ref.19 Ref.21

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-Oand tyrosine hydroxylase (TH) By similarity. Ref.12 Ref.17 Ref.19

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.

Post-translational modification

Phosphorylated on serine residues by PKA. Phosphorylation by PKA enhances its DNA-binding activity and stimulates transcription repression. Ref.10

Acetylation of Lys-136 contributes to its nuclear localization and enhances its interaction with KPNB1. Deacetylated by HDAC3. Ref.17

Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its DNA-binding activity.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.25 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.34 Ref.35 Ref.36 Ref.37 Ref.38 Ref.39 Ref.40 Ref.41 Ref.42 Ref.43 Ref.44 Ref.46 Ref.47 Ref.49 Ref.50 Ref.51 Ref.52 Ref.53 Ref.54

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.

46,XX sex reversal 1 (SRXX1) [MIM:400045]: A condition in which male gonads develop in a genetic female (female to male sex reversal).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.45 Ref.48

Sequence similarities

Belongs to the SRY family.

Contains 1 HMG box DNA-binding domain.

Ontologies

Keywords
   Biological processDifferentiation
Sexual differentiation
Transcription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityChromosomal rearrangement
   DiseaseDisease mutation
   LigandCalmodulin-binding
DNA-binding
   Molecular functionActivator
Repressor
   PTMAcetylation
ADP-ribosylation
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

male sex determination

Non-traceable author statement Ref.1. Source: UniProtKB

positive regulation of male gonad development

Inferred from direct assay PubMed 21412441. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 21412441. Source: UniProtKB

regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 21412441. Source: GOC

sex differentiation

Inferred from electronic annotation. Source: UniProtKB-KW

transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 21412441. Source: GOC

   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

nuclear speck

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from direct assay PubMed 21412441. Source: UniProtKB

   Molecular_functionDNA binding

Inferred from direct assay Ref.6Ref.7. Source: UniProtKB

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from direct assay PubMed 21412441. Source: UniProtKB

transcription factor binding

Inferred from physical interaction PubMed 16582099. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 204204Sex-determining region Y protein
PRO_0000048671

Regions

DNA binding60 – 12869HMG box Ref.6 Ref.7 Ref.8 Ref.14 Ref.16
Region59 – 13678Sufficient for interaction with KPNB1
Region61 – 7717Required for nuclear localization
Region107 – 13933Sufficient for interaction with EP300
Region130 – 1367Required for nuclear localization
Region138 – 15518Necessary for interaction with ZNF208 isoform KRAB-O
Region198 – 2047Necessary for interaction with SLC9A3R2

Amino acid modifications

Modified residue1361N6-acetyllysine Ref.17

Natural variations

Natural variant31S → L in SRXY1. Ref.54
VAR_030019
Natural variant181S → N in SRXY1; partial; also in two patients with a Turner syndrome phenotype. Ref.43 Ref.50
VAR_003717
Natural variant601V → A in SRXY1. Ref.40
VAR_003718
Natural variant601V → L in SRXY1. Ref.29 Ref.31
VAR_003719
Natural variant621R → G in SRXY1. Ref.30
VAR_003720
Natural variant641M → I in SRXY1; alters interaction with DNA and DNA bending. Ref.25 Ref.29
VAR_003721
Natural variant641M → R in SRXY1. Ref.42
VAR_017298
Natural variant671F → V in SRXY1. Ref.42
VAR_017299
Natural variant681I → T in SRXY1. Ref.38
VAR_003722
Natural variant761R → S in SRXY1. Ref.46
VAR_017300
Natural variant781M → T in SRXY1. Ref.30
VAR_003723
Natural variant871N → Y in SRXY1. Ref.51
VAR_017301
Natural variant901I → M in SRXY1. Ref.32 Ref.44 Ref.53
VAR_003724
Natural variant911S → G in SRXY1. Ref.39
VAR_003725
Natural variant951G → E in SRXY1. Ref.49
VAR_017302
Natural variant951G → R in SRXY1. Ref.33
VAR_003726
Natural variant1011L → H in SRXY1. Ref.34
VAR_003727
Natural variant1061K → I in SRXY1. Ref.32
VAR_003728
Natural variant1081P → R in SRXY1. Ref.47
VAR_003729
Natural variant1091F → S in SRXY1. Ref.35
VAR_003730
Natural variant1131A → T in SRXY1. Ref.36
VAR_003731
Natural variant1251P → L in SRXY1. Ref.39
VAR_003732
Natural variant1271Y → C in SRXY1. Ref.37
VAR_003733
Natural variant1271Y → F in SRXY1. Ref.52
VAR_017303
Natural variant1311P → R in SRXY1. Ref.41
VAR_017304
Natural variant1331R → W in SRXY1. Ref.30
VAR_003734

Experimental info

Mutagenesis31 – 333SSS → AAA: Abolishes its phosphorylation by PKA. Does not enhance its DNA-binding activity. Abolishes stimulation of transcription repression. Ref.10
Mutagenesis621R → G: Strongly reduces nuclear localization. Strongly reduces nuclear localization; when associated with W-133. Reduces interaction with KPNB1. Abolishes DNA-binding. Ref.14
Mutagenesis641M → I: Abolishes nuclear localization. Ref.20
Mutagenesis751R → N: Strongly reduces nuclear localization. Abolishes DNA-binding. Does not reduce interaction with KPNB1 and CAML. Ref.14 Ref.19
Mutagenesis761R → P: Reduces nuclear localization. Reduces DNA-binding. Does not reduce interaction with KPNB1 and CAML. Ref.14 Ref.19
Mutagenesis1151K → R: Does not abolish acetylation activity. Ref.17
Mutagenesis1231K → R: Does not abolish acetylation. Ref.17
Mutagenesis1281K → R: Does not abolish acetylation. Ref.17
Mutagenesis1331R → 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. Ref.14 Ref.19
Mutagenesis1341K → R: Does not abolish acetylation. Ref.17
Mutagenesis1361K → R: Abolishes acetylation. Does not abolish interaction with EP300. Does not abolish DNA-binding. Enhances cytoplasmic localization. Abolishes interaction with KPNB1. Ref.17

Secondary structure

......... 204
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q05066 [UniParc].

Last modified June 1, 1994. Version 1.
Checksum: 84323C30A9C2173E

FASTA20423,884
        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 

« Hide

References

« Hide 'large scale' references
[1]"A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif."
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.
Nature 346:240-244(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Identification of the transcriptional unit, structural organization, and promoter sequence of the human sex-determining region Y (SRY) gene, using a reverse genetic approach."
Su H., Lau Y.-F.C.
Am. J. Hum. Genet. 52:24-38(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]"Evidence that the SRY protein is encoded by a single exon on the human Y chromosome."
Behlke M.A., Bogan J.S., Beer-Romero P., Page D.C.
Genomics 17:736-739(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome."
Whitfield L.S., Hawkins J.R., Goodfellow P.N., Sulston J.
Genomics 27:306-311(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]"SRY, like HMG1, recognizes sharp angles in DNA."
Ferrari S., Harley V.R., Pontiggia A., Goodfellow P.N., Lovell-Badge R., Bianchi M.E.
EMBO J. 11:4497-4506(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF DNA-BINDING.
[7]"The SRY high-mobility-group box recognizes DNA by partial intercalation in the minor groove: a topological mechanism of sequence specificity."
King C.Y., Weiss M.A.
Proc. Natl. Acad. Sci. U.S.A. 90:11990-11994(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF DNA-BINDING.
[8]"Distinct DNA-binding properties of the high mobility group domain of murine and human SRY sex-determining factors."
Giese K., Pagel J., Grosschedl R.
Proc. Natl. Acad. Sci. U.S.A. 91:3368-3372(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF DNA-BINDING.
[9]"The human testis determining factor SRY binds a nuclear factor containing PDZ protein interaction domains."
Poulat F., de Santa Barbara P., Desclozeaux M., Soullier S., Moniot B., Bonneaud N., Boizet B., Berta P.
J. Biol. Chem. 272:7167-7172(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH SLC9A3R2.
[10]"Phosphorylation of an N-terminal motif enhances DNA-binding activity of the human SRY protein."
Desclozeaux M., Poulat F., de Santa Barbara P., Capony J.-P., Turowski P., Jay P., Mejean C., Moniot B., Boizet B., Berta P.
J. Biol. Chem. 273:7988-7995(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION, MUTAGENESIS OF 31-SER--SER-33.
[11]"The Y-chromosomal genes SRY and ZFY are transcribed in adult human brain."
Mayer A., Lahr G., Swaab D.F., Pilgrim C., Reisert I.
Neurogenetics 1:281-288(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[12]"A direct role of SRY and SOX proteins in pre-mRNA splicing."
Ohe K., Lalli E., Sassone-Corsi P.
Proc. Natl. Acad. Sci. U.S.A. 99:1146-1151(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[13]"Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1."
Matsuzawa-Watanabe Y., Inoue J., Semba K.
Oncogene 22:7900-7904(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH WT1.
[14]"Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations."
Harley V.R., Layfield S., Mitchell C.L., Forwood J.K., John A.P., Briggs L.J., McDowall S.G., Jans D.A.
Proc. Natl. Acad. Sci. U.S.A. 100:7045-7050(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH KPNB1, DNA-BINDING, MUTAGENESIS OF ARG-62; ARG-75; ARG-76 AND ARG-133.
[15]"Recombinant expression, purification and characterisation of the HMG domain of human SRY."
Kelly S., Yotis J., Macris M., Harley V.
Protein Pept. Lett. 10:281-286(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH CALM.
[16]"Sry-directed sex reversal in transgenic mice is robust with respect to enhanced DNA bending: comparison of human and murine HMG boxes."
Phillips N.B., Nikolskaya T., Jancso-Radek A., Ittah V., Jiang F., Singh R., Haas E., Weiss M.A.
Biochemistry 43:7066-7081(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, DNA-BINDING.
[17]"Regulation of human SRY subcellular distribution by its acetylation/deacetylation."
Thevenet L., Mejean C., Moniot B., Bonneaud N., Galeotti N., Aldrian-Herrada G., Poulat F., Berta P., Benkirane M., Boizet-Bonhoure B.
EMBO J. 23:3336-3345(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH EP300; HDAC3 AND KPNB1, ACETYLATION AT LYS-136, MUTAGENESIS OF LYS-115; LYS-123; LYS-128; LYS-134 AND LYS-136, SUBCELLULAR LOCATION.
[18]"Sry associates with the heterochromatin protein 1 complex by interacting with a KRAB domain protein."
Oh H.J., Li Y., Lau Y.-F.C.
Biol. Reprod. 72:407-415(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ZNF208 ISOFORM KRAB-O.
[19]"Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal."
Sim H., Rimmer K., Kelly S., Ludbrook L.M., Clayton A.H., Harley V.R.
Mol. Endocrinol. 19:1884-1892(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH CALM, MUTAGENESIS OF ARG-75; ARG-76 AND ARG-133, SUBCELLULAR LOCATION.
[20]"SRY-directed DNA bending and human sex reversal: reassessment of a clinical mutation uncovers a global coupling between the HMG box and its tail."
Li B., Phillips N.B., Jancso-Radek A., Ittah V., Singh R., Jones D.N., Haas E., Weiss M.A.
J. Mol. Biol. 360:310-328(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, MUTAGENESIS OF MET-64.
[21]"The poly(ADP-ribose) polymerase 1 interacts with Sry and modulates its biological functions."
Li Y., Oh H.J., Lau Y.-F.C.
Mol. Cell. Endocrinol. 257:35-46(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PARP1, ADP-RIBOSYLATION.
[22]"Sry and the hesitant beginnings of male development."
Polanco J.C., Koopman P.
Dev. Biol. 302:13-24(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[23]"KRAB: a partner for SRY action on chromatin."
Oh H.J., Lau Y.F.
Mol. Cell. Endocrinol. 247:47-52(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[24]"Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex."
Werner M.H., Huth J.R., Gronenborn A.M., Clore G.M.
Cell 81:705-714(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 56-131 IN COMPLEX WITH DNA.
[25]"Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation."
Murphy E.C., Zhurkin V.B., Louis J.M., Cornilescu G., Clore G.M.
J. Mol. Biol. 312:481-499(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 57-218 IN COMPLEX WITH DNA, CHARACTERIZATION OF VARIANT SRXY1 ILE-64, FUNCTION.
[26]"Structure of a complex of tandem HMG boxes and DNA."
Stott K., Tang G.S., Lee K.B., Thomas J.O.
J. Mol. Biol. 360:90-104(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 56-130 IN COMPLEX WITH DNA.
[27]"Mutational analysis of SRY in XY females."
Hawkins J.R.
Hum. Mutat. 2:347-350(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
[28]"Mutations in SRY and SOX9: testis-determining genes."
Cameron F.J., Sinclair A.H.
Hum. Mutat. 9:388-395(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON VARIANTS.
[29]"Genetic evidence equating SRY and the testis-determining factor."
Berta P., Hawkins J.R., Sinclair A.H., Taylor A., Griffiths B.L., Goodfellow P.N., Fellous M.
Nature 348:448-450(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SRXY1 LEU-60 AND ILE-64.
[30]"Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain."
Affara N.A., Chalmers I.J., Ferguson-Smith M.A.
Hum. Mol. Genet. 2:785-789(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SRXY1 GLY-62; THR-78 AND TRP-133.
[31]"Familial case with sequence variant in the testis-determining region associated with two sex phenotypes."
Vilain E., McElreavey K., Jaubert F., Raymond J.-P., Richaud F., Fellous M.
Am. J. Hum. Genet. 50:1008-1011(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 LEU-60.
[32]"Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis."
Hawkins J.R., Taylor A., Goodfellow P.N., Migeon C.J., Smith K.D., Berkovitz G.D.
Am. J. Hum. Genet. 51:979-984(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SRXY1 MET-90 AND ILE-106.
[33]"Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal."
Hawkins J.R., Taylor A., Berta P., Levilliers J., van der Auwera B., Goodfellow P.N.
Hum. Genet. 88:471-474(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 ARG-95.
[34]"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."
Braun A., Kammerer S., Cleve H., Loehrs U., Schwarz H.-P., Kuhnle U.
Am. J. Hum. Genet. 52:578-585(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 HIS-101.
[35]"A familial mutation in the testis-determining gene SRY shared by both sexes."
Jaeger R.J., Harley V.R., Pfeiffer R.A., Goodfellow P.N., Scherer G.
Hum. Genet. 90:350-355(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 SER-109.
[36]"A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis."
Zeng Y., Ren Z., Zhang M., Huang Y., Zeng F., Huang S.
J. Med. Genet. 30:655-657(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 THR-113.
[37]"Description and functional implications of a novel mutation in the sex-determining gene SRY."
Poulat F., Soulier S., Goze C., Heitz F., Calas B., Berta P.
Hum. Mutat. 3:200-204(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 CYS-127.
[38]"Molecular basis of mammalian sexual determination: activation of Mullerian inhibiting substance gene expression by SRY."
Haqq C.M., King C.Y., Ukiyama E., Falsafi S., Haqq T.N., Donahoe P.K., Weiss M.A.
Science 266:1494-1500(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 THR-68.
[39]"Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers."
Schmitt-Ney M., Thiele H., Kaltwasser P., Bardoni B., Cisternino M., Scherer G.
Am. J. Hum. Genet. 56:862-869(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SRXY1 GLY-91 AND LEU-125.
[40]"True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene."
Hiort O., Klaubert G.T.
J. Pediatr. 126:1022-1022(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 ALA-60.
[41]"Novel missense mutation (P131R) in the HMG box of SRY in XY sex reversal."
Lundberg Y., Ritzen M., Harlin J., Wedell A.
Hum. Mutat. Suppl. 1:S328-S328(1998)
Cited for: VARIANT SRXY1 ARG-131.
[42]"Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations."
Scherer G., Held M., Erdel M., Meschede D., Horst J., Lesniewicz R., Midro A.T.
Cytogenet. Cell Genet. 80:188-192(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SRXY1 ARG-64 AND VAL-67.
[43]"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."
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.
Hum. Genet. 102:213-215(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 ASN-18.
[44]"Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis."
Doerk T., Stuhrmann M., Miller K., Schmidtke J.
Hum. Mutat. 11:90-91(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 MET-90.
[45]"A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads."
Inoue H., Nomura M., Yanase T., Ichino I., Goto K., Ikuyama S., Takayanagi R., Nawata H.
Intern. Med. 37:467-471(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SRXX1.
[46]"A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father."
Imai A., Takagi A., Tamaya T.
Endocr. J. 46:735-739(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 SER-76.
[47]"Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome."
Jakubiczka S., Bettecken T., Stumm M., Neulen J., Wieacker P.
Hum. Mutat. 13:85-85(1999)
Cited for: VARIANT SRXY1 ARG-108.
[48]"SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite."
Margarit E., Coll M.D., Oliva R., Gomez D., Soler A., Ballesta F.
Am. J. Med. Genet. 90:25-28(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SRXX1.
[49]"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."
Schaeffler A., Barth N., Winkler K., Zietz B., Ruemmele P., Knuechel R., Schoelmerich J., Palitzsch K.-D.
J. Clin. Endocrinol. Metab. 85:2287-2292(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 GLU-95.
[50]"A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism."
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.
J. Clin. Endocrinol. Metab. 85:1908-1911(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 ASN-18.
[51]"A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal."
Okuhara K., Tajima T., Nakae J., Fujieda K.
J. Hum. Genet. 45:112-114(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 TYR-87.
[52]"Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father."
Jordan B.K., Jain M., Natarajan S., Frasier S.D., Vilain E.
J. Clin. Endocrinol. Metab. 87:3428-3432(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 PHE-127.
[53]"True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene."
Maier E.M., Leitner C., Lohrs U., Kuhnle U.
J. Pediatr. Endocrinol. Metab. 16:575-580(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 MET-90.
[54]"Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis."
Gimelli G., Gimelli S., Dimasi N., Bocciardi R., Battista E.D., Pramparo T., Zuffardi O.
Eur. J. Hum. Genet. 15:76-80(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SRXY1 LEU-3.
+Additional computationally mapped references.

Web resources

GeneReviews
Protein Spotlight

The tenuous nature of sex - Issue 80 of March 2007

Wikipedia

SRY entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X53772 Genomic DNA. Translation: CAA37790.1.
L10101 mRNA. Translation: AAA60590.1.
L10102 Genomic DNA. Translation: AAA60591.1.
L08063 Genomic DNA. Translation: AAA16878.1.
X96421 Genomic DNA. Translation: CAA65281.1.
S53156 mRNA. Translation: AAB25008.1.
S56543 mRNA. Translation: AAB25716.1.
BC074923 mRNA. Translation: AAH74923.1.
BC074924 mRNA. Translation: AAH74924.1.
PIRA47533.
RefSeqNP_003131.1. NM_003140.2.
UniGeneHs.1992.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1HRYNMR-A56-131[»]
1HRZNMR-A56-131[»]
1J46NMR-A57-140[»]
1J47NMR-A57-140[»]
2GZKNMR-A56-130[»]
ProteinModelPortalQ05066.
SMRQ05066. Positions 58-130.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112614. 19 interactions.
IntActQ05066. 1 interaction.
MINTMINT-1367278.
STRING9606.ENSP00000372547.

PTM databases

PhosphoSiteQ05066.

Polymorphism databases

DMDM548983.

Proteomic databases

PaxDbQ05066.
PRIDEQ05066.

Protocols and materials databases

DNASU6736.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000383070; ENSP00000372547; ENSG00000184895.
GeneID6736.
KEGGhsa:6736.
UCSCuc004fqg.1. human.

Organism-specific databases

CTD6736.
GeneCardsGC0YM002698.
HGNCHGNC:11311. SRY.
HPAHPA003959.
MIM400044. phenotype.
400045. phenotype.
480000. gene.
neXtProtNX_Q05066.
Orphanet1772. 45,X/46,XY mixed gonadal dysgenesis.
2138. 46,XX ovotesticular disorder of sex development.
393. 46,XX testicular disorder of sex development.
242. 46,XY complete gonadal dysgenesis.
251510. 46,XY partial gonadal dysgenesis.
983. Testicular regression syndrome.
PharmGKBPA36135.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG130659.
HOGENOMHOG000008601.
HOVERGENHBG008712.
InParanoidQ05066.
KOK09266.
OMAQSYASAM.
OrthoDBEOG7RNK18.
PhylomeDBQ05066.

Enzyme and pathway databases

SignaLinkQ05066.

Gene expression databases

ArrayExpressQ05066.
BgeeQ05066.
CleanExHS_SRY.
GenevestigatorQ05066.

Family and domain databases

Gene3D1.10.30.10. 1 hit.
InterProIPR009071. HMG_box_dom.
IPR017253. TF_Sry.
[Graphical view]
PANTHERPTHR10270:SF48. PTHR10270:SF48. 1 hit.
PfamPF00505. HMG_box. 1 hit.
[Graphical view]
PIRSFPIRSF037653. SRY. 1 hit.
SMARTSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMSSF47095. SSF47095. 1 hit.
PROSITEPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ05066.
GeneWikiSRY.
GenomeRNAi6736.
NextBio26276.
PROQ05066.
SOURCESearch...

Entry information

Entry nameSRY_HUMAN
AccessionPrimary (citable) accession number: Q05066
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: April 16, 2014
This is version 153 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Protein Spotlight

Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome Y

Human chromosome Y: entries, gene names and cross-references to MIM