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Q05066

- SRY_HUMAN

UniProt

Q05066 - SRY_HUMAN

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
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    • History
      Entry version 157 (01 Oct 2014)
      Sequence version 1 (01 Jun 1994)
      Previous versions | rss
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    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. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: UniProtKB
    3. transcription factor binding Source: UniProtKB

    GO - Biological processi

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

    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-SubCell
    2. nuclear speck Source: UniProtKB-SubCell
    3. nucleus Source: UniProtKB

    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. 2 Publications
    Mutagenesisi64 – 641M → I: Abolishes nuclear localization. 2 Publications
    Mutagenesisi75 – 751R → N: Strongly reduces nuclear localization. Abolishes DNA-binding. Does not reduce interaction with KPNB1 and CAML. 3 Publications
    Mutagenesisi76 – 761R → P: Reduces nuclear localization. Reduces DNA-binding. Does not reduce interaction with KPNB1 and CAML. 3 Publications
    Mutagenesisi115 – 1151K → R: Does not abolish acetylation activity. 2 Publications
    Mutagenesisi123 – 1231K → R: Does not abolish acetylation. 2 Publications
    Mutagenesisi128 – 1281K → R: Does not abolish acetylation. 2 Publications
    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. 3 Publications
    Mutagenesisi134 – 1341K → R: Does not abolish acetylation. 2 Publications
    Mutagenesisi136 – 1361K → R: Abolishes acetylation. Does not abolish interaction with EP300. Does not abolish DNA-binding. Enhances cytoplasmic localization. Abolishes interaction with KPNB1. 2 Publications

    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.
    983. Testicular regression syndrome.
    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

    ArrayExpressiQ05066.
    BgeeiQ05066.
    CleanExiHS_SRY.
    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 – 8116
    Beta strandi86 – 883
    Helixi89 – 9911
    Helixi103 – 12321
    Beta strandi124 – 1263

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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.
    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

    MQSYASAMLS VFNSDDYSPA VQENIPALRR SSSFLCTESC NSKYQCETGE    50
    NSKGNVQDRV KRPMNAFIVW SRDQRRKMAL ENPRMRNSEI SKQLGYQWKM 100
    LTEAEKWPFF QEAQKLQAMH REKYPNYKYR PRRKAKMLPK NCSLLPADPA 150
    SVLCSEVQLD NRLYRDDCTK ATHSRMEHQL GHLPPINAAS SPQQRDRYSH 200
    WTKL 204
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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 .
    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.
    983. Testicular regression syndrome.
    PharmGKBi PA36135.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG130659.
    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

    ArrayExpressi Q05066.
    Bgeei Q05066.
    CleanExi HS_SRY.
    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

    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: October 1, 2014
    This is version 157 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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