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Q05066

- SRY_HUMAN

UniProt

Q05066 - SRY_HUMAN

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Protein

Sex-determining region Y protein

Gene

SRY

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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'.By similarity4 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi60 – 12869HMG boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. DNA binding, bending Source: Ensembl
  3. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: UniProtKB
  4. transcription factor binding Source: UniProtKB

GO - Biological processi

  1. cell differentiation Source: UniProtKB-KW
  2. male gonad development Source: Ensembl
  3. male sex determination Source: UniProtKB
  4. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  5. positive regulation of male gonad development Source: UniProtKB
  6. positive regulation of transcription, DNA-templated Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Differentiation, Sexual differentiation, Transcription, Transcription regulation

Keywords - Ligandi

Calmodulin-binding, DNA-binding

Enzyme and pathway databases

SignaLinkiQ05066.

Names & Taxonomyi

Protein namesi
Recommended name:
Sex-determining region Y protein
Alternative name(s):
Testis-determining factor
Gene namesi
Name:SRY
Synonyms:TDF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome Y

Organism-specific databases

HGNCiHGNC:11311. SRY.

Subcellular locationi

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).By similarity

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. nuclear transcription factor complex Source: Ensembl
  3. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.24 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31S → L in SRXY1. 1 Publication
VAR_030019
Natural varianti18 – 181S → N in SRXY1; partial; also in two patients with a Turner syndrome phenotype. 2 Publications
VAR_003717
Natural varianti60 – 601V → A in SRXY1. 1 Publication
VAR_003718
Natural varianti60 – 601V → L in SRXY1. 2 Publications
VAR_003719
Natural varianti62 – 621R → G in SRXY1. 1 Publication
VAR_003720
Natural varianti64 – 641M → I in SRXY1; alters interaction with DNA and DNA bending. 1 Publication
VAR_003721
Natural varianti64 – 641M → R in SRXY1. 1 Publication
VAR_017298
Natural varianti67 – 671F → V in SRXY1. 1 Publication
VAR_017299
Natural varianti68 – 681I → T in SRXY1. 1 Publication
VAR_003722
Natural varianti76 – 761R → S in SRXY1. 1 Publication
VAR_017300
Natural varianti78 – 781M → T in SRXY1. 1 Publication
VAR_003723
Natural varianti87 – 871N → Y in SRXY1. 1 Publication
VAR_017301
Natural varianti90 – 901I → M in SRXY1. 3 Publications
VAR_003724
Natural varianti91 – 911S → G in SRXY1. 1 Publication
VAR_003725
Natural varianti95 – 951G → E in SRXY1. 1 Publication
VAR_017302
Natural varianti95 – 951G → R in SRXY1. 1 Publication
VAR_003726
Natural varianti101 – 1011L → H in SRXY1. 1 Publication
VAR_003727
Natural varianti106 – 1061K → I in SRXY1. 1 Publication
VAR_003728
Natural varianti108 – 1081P → R in SRXY1. 1 Publication
VAR_003729
Natural varianti109 – 1091F → S in SRXY1. 1 Publication
VAR_003730
Natural varianti113 – 1131A → T in SRXY1. 1 Publication
VAR_003731
Natural varianti125 – 1251P → L in SRXY1. 1 Publication
VAR_003732
Natural varianti127 – 1271Y → C in SRXY1. 1 Publication
VAR_003733
Natural varianti127 – 1271Y → F in SRXY1. 1 Publication
VAR_017303
Natural varianti131 – 1311P → R in SRXY1. 1 Publication
VAR_017304
Natural varianti133 – 1331R → W in SRXY1. 1 Publication
VAR_003734
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).2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi31 – 333SSS → AAA: Abolishes its phosphorylation by PKA. Does not enhance its DNA-binding activity. Abolishes stimulation of transcription repression. 1 Publication
Mutagenesisi62 – 621R → G: Strongly reduces nuclear localization. Strongly reduces nuclear localization; when associated with W-133. Reduces interaction with KPNB1. Abolishes DNA-binding. 1 Publication
Mutagenesisi64 – 641M → I: Abolishes nuclear localization. 1 Publication
Mutagenesisi75 – 751R → N: Strongly reduces nuclear localization. Abolishes DNA-binding. Does not reduce interaction with KPNB1 and CAML. 2 Publications
Mutagenesisi76 – 761R → P: Reduces nuclear localization. Reduces DNA-binding. Does not reduce interaction with KPNB1 and CAML. 2 Publications
Mutagenesisi115 – 1151K → R: Does not abolish acetylation activity. 1 Publication
Mutagenesisi123 – 1231K → R: Does not abolish acetylation. 1 Publication
Mutagenesisi128 – 1281K → R: Does not abolish acetylation. 1 Publication
Mutagenesisi133 – 1331R → 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. 2 Publications
Mutagenesisi134 – 1341K → R: Does not abolish acetylation. 1 Publication
Mutagenesisi136 – 1361K → R: Abolishes acetylation. Does not abolish interaction with EP300. Does not abolish DNA-binding. Enhances cytoplasmic localization. Abolishes interaction with KPNB1. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi400044. phenotype.
400045. phenotype.
Orphaneti1772. 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.
PharmGKBiPA36135.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 204204Sex-determining region Y proteinPRO_0000048671Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei136 – 1361N6-acetyllysine1 Publication

Post-translational modificationi

Phosphorylated on serine residues by PKA. Phosphorylation by PKA enhances its DNA-binding activity and stimulates transcription repression.1 Publication
Acetylation of Lys-136 contributes to its nuclear localization and enhances its interaction with KPNB1. Deacetylated by HDAC3.1 Publication
Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its DNA-binding activity.

Keywords - PTMi

Acetylation, ADP-ribosylation

Proteomic databases

PaxDbiQ05066.
PRIDEiQ05066.

PTM databases

PhosphoSiteiQ05066.

Expressioni

Gene expression databases

BgeeiQ05066.
CleanExiHS_SRY.
ExpressionAtlasiQ05066. baseline and differential.
GenevestigatoriQ05066.

Organism-specific databases

HPAiHPA003959.

Interactioni

Subunit structurei

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).By similarity

Protein-protein interaction databases

BioGridi112614. 19 interactions.
IntActiQ05066. 1 interaction.
MINTiMINT-1367278.
STRINGi9606.ENSP00000372547.

Structurei

Secondary structure

1
204
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi66 – 8116Combined sources
Beta strandi86 – 883Combined sources
Helixi89 – 9911Combined sources
Helixi103 – 12321Combined sources
Beta strandi124 – 1263Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1HRYNMR-A56-131[»]
1HRZNMR-A56-131[»]
1J46NMR-A57-140[»]
1J47NMR-A57-140[»]
2GZKNMR-A56-130[»]
ProteinModelPortaliQ05066.
SMRiQ05066. Positions 58-130.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ05066.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni59 – 13678Sufficient for interaction with KPNB1Add
BLAST
Regioni61 – 7717Required for nuclear localizationAdd
BLAST
Regioni107 – 13933Sufficient for interaction with EP300Add
BLAST
Regioni130 – 1367Required for nuclear localization
Regioni138 – 15518Necessary for interaction with ZNF208 isoform KRAB-OAdd
BLAST
Regioni198 – 2047Necessary for interaction with SLC9A3R2

Domaini

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.

Sequence similaritiesi

Belongs to the SRY family.Curated
Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG130659.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000008601.
HOVERGENiHBG008712.
InParanoidiQ05066.
KOiK09266.
OMAiQSYASAM.
OrthoDBiEOG7RNK18.
PhylomeDBiQ05066.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR017253. SRY.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
[Graphical view]
PIRSFiPIRSF037653. SRY. 1 hit.
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q05066-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MQSYASAMLS VFNSDDYSPA VQENIPALRR SSSFLCTESC NSKYQCETGE
60 70 80 90 100
NSKGNVQDRV KRPMNAFIVW SRDQRRKMAL ENPRMRNSEI SKQLGYQWKM
110 120 130 140 150
LTEAEKWPFF QEAQKLQAMH REKYPNYKYR PRRKAKMLPK NCSLLPADPA
160 170 180 190 200
SVLCSEVQLD NRLYRDDCTK ATHSRMEHQL GHLPPINAAS SPQQRDRYSH

WTKL
Length:204
Mass (Da):23,884
Last modified:June 1, 1994 - v1
Checksum:i84323C30A9C2173E
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31S → L in SRXY1. 1 Publication
VAR_030019
Natural varianti18 – 181S → N in SRXY1; partial; also in two patients with a Turner syndrome phenotype. 2 Publications
VAR_003717
Natural varianti60 – 601V → A in SRXY1. 1 Publication
VAR_003718
Natural varianti60 – 601V → L in SRXY1. 2 Publications
VAR_003719
Natural varianti62 – 621R → G in SRXY1. 1 Publication
VAR_003720
Natural varianti64 – 641M → I in SRXY1; alters interaction with DNA and DNA bending. 1 Publication
VAR_003721
Natural varianti64 – 641M → R in SRXY1. 1 Publication
VAR_017298
Natural varianti67 – 671F → V in SRXY1. 1 Publication
VAR_017299
Natural varianti68 – 681I → T in SRXY1. 1 Publication
VAR_003722
Natural varianti76 – 761R → S in SRXY1. 1 Publication
VAR_017300
Natural varianti78 – 781M → T in SRXY1. 1 Publication
VAR_003723
Natural varianti87 – 871N → Y in SRXY1. 1 Publication
VAR_017301
Natural varianti90 – 901I → M in SRXY1. 3 Publications
VAR_003724
Natural varianti91 – 911S → G in SRXY1. 1 Publication
VAR_003725
Natural varianti95 – 951G → E in SRXY1. 1 Publication
VAR_017302
Natural varianti95 – 951G → R in SRXY1. 1 Publication
VAR_003726
Natural varianti101 – 1011L → H in SRXY1. 1 Publication
VAR_003727
Natural varianti106 – 1061K → I in SRXY1. 1 Publication
VAR_003728
Natural varianti108 – 1081P → R in SRXY1. 1 Publication
VAR_003729
Natural varianti109 – 1091F → S in SRXY1. 1 Publication
VAR_003730
Natural varianti113 – 1131A → T in SRXY1. 1 Publication
VAR_003731
Natural varianti125 – 1251P → L in SRXY1. 1 Publication
VAR_003732
Natural varianti127 – 1271Y → C in SRXY1. 1 Publication
VAR_003733
Natural varianti127 – 1271Y → F in SRXY1. 1 Publication
VAR_017303
Natural varianti131 – 1311P → R in SRXY1. 1 Publication
VAR_017304
Natural varianti133 – 1331R → W in SRXY1. 1 Publication
VAR_003734

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS14772.1.
PIRiA47533.
RefSeqiNP_003131.1. NM_003140.2.
UniGeneiHs.1992.

Genome annotation databases

EnsembliENST00000383070; ENSP00000372547; ENSG00000184895.
ENST00000623823; ENSP00000485519; ENSG00000279710.
GeneIDi6736.
KEGGihsa:6736.
UCSCiuc004fqg.1. human.

Polymorphism databases

DMDMi548983.

Keywords - Coding sequence diversityi

Chromosomal rearrangement

Cross-referencesi

Web resourcesi

Protein Spotlight

The tenuous nature of sex - Issue 80 of March 2007

Wikipedia

SRY entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS14772.1.
PIRi A47533.
RefSeqi NP_003131.1. NM_003140.2.
UniGenei Hs.1992.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1HRY NMR - A 56-131 [» ]
1HRZ NMR - A 56-131 [» ]
1J46 NMR - A 57-140 [» ]
1J47 NMR - A 57-140 [» ]
2GZK NMR - A 56-130 [» ]
ProteinModelPortali Q05066.
SMRi Q05066. Positions 58-130.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112614. 19 interactions.
IntActi Q05066. 1 interaction.
MINTi MINT-1367278.
STRINGi 9606.ENSP00000372547.

PTM databases

PhosphoSitei Q05066.

Polymorphism databases

DMDMi 548983.

Proteomic databases

PaxDbi Q05066.
PRIDEi Q05066.

Protocols and materials databases

DNASUi 6736.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000383070 ; ENSP00000372547 ; ENSG00000184895 .
ENST00000623823 ; ENSP00000485519 ; ENSG00000279710 .
GeneIDi 6736.
KEGGi hsa:6736.
UCSCi uc004fqg.1. human.

Organism-specific databases

CTDi 6736.
GeneCardsi GC0YM002698.
GeneReviewsi SRY.
HGNCi HGNC:11311. SRY.
HPAi HPA003959.
MIMi 400044. phenotype.
400045. phenotype.
480000. gene.
neXtProti NX_Q05066.
Orphaneti 1772. 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.
PharmGKBi PA36135.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG130659.
GeneTreei ENSGT00760000118988.
HOGENOMi HOG000008601.
HOVERGENi HBG008712.
InParanoidi Q05066.
KOi K09266.
OMAi QSYASAM.
OrthoDBi EOG7RNK18.
PhylomeDBi Q05066.

Enzyme and pathway databases

SignaLinki Q05066.

Miscellaneous databases

EvolutionaryTracei Q05066.
GeneWikii SRY.
GenomeRNAii 6736.
NextBioi 26276.
PROi Q05066.
SOURCEi Search...

Gene expression databases

Bgeei Q05066.
CleanExi HS_SRY.
ExpressionAtlasi Q05066. baseline and differential.
Genevestigatori Q05066.

Family and domain databases

Gene3Di 1.10.30.10. 1 hit.
InterProi IPR009071. HMG_box_dom.
IPR017253. SRY.
[Graphical view ]
Pfami PF00505. HMG_box. 1 hit.
[Graphical view ]
PIRSFi PIRSF037653. SRY. 1 hit.
SMARTi SM00398. HMG. 1 hit.
[Graphical view ]
SUPFAMi SSF47095. SSF47095. 1 hit.
PROSITEi PS50118. HMG_BOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiSRY_HUMAN
AccessioniPrimary (citable) accession number: Q05066
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: November 26, 2014
This is version 159 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome Y
    Human chromosome Y: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  7. SIMILARITY comments
    Index of protein domains and families

External Data

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