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FLASH GENE
Symbol SRY contributors: mct/npt - updated : 06-12-2016
HGNC name sex determining region Y
HGNC id 11311
Corresponding disease
GDXY gonadal dysgenesis, XY , SRY-related
XXTD XX gonadal dysgenesis, SRY- positive
Location Yp11.31      Physical location : 2.654.895 - 2.655.792
Synonym name
  • testis determining factor
  • essential protein for sex determination in human males
    • Synonym symbol(s) TDF, TDY, SRXX1, SRXY1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text
  • is a hybrid gene composed of two genes, DGCR8 and SOX3
    • STRUCTURE 0.89 kb     1 Exon(s)    single Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    text structure DNA binding domain
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 897 23.75 204 - Ferrari (1992)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainmidbrainsubstantia nigra   Homo sapiens
    Reproductivemale systemtestis   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a PKA site N-terminal to the HMG box , and two nuclear localization signals (NLSs) that flank the DNA binding high mobility group (HMG) domain, the beta-NLS and the CALM1-NLS
  • a central HMG DNA-binding domain
  • a conserved motif of DNA binding (sharp binding is required for transcriptional activation and testis determination), a DNA-binding domain characteristic of some high mobility group proteins (HMG box)
  • a glutamine repeat
    • HOMOLOGY
    interspecies homolog to murine Sry
    Homologene
    FAMILY
  • SRY family
    • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • nucleocytoplasmic shuttling of SRY is necessary for robust initiation of testicular development
  • detected in the human male, but not female substantia nigra pars compacta
  • SRY, RPS7 and RPL13A were co-localized in nuclear speckles
    • basic FUNCTION
  • modulator of LINE retroposons promoter activity, regulator of a genetic switch in male development
  • required for testicular differentiation through the nuclear localization signal
  • activates both MAOA-promoter and catalytic activities (Wu 2009)
  • responsible for initiating male sexual differentiation
  • may function by repressing the ovarian determinant gene, RSPO1, action in the ovarian developmental pathway and activates genes, such as SOX9, important for testis differentiation at the onset of gonadogenesis (Peng 2009)
  • transcriptional activator of mammalian testis determination, but this SRY action is limited to a certain time period during embryogenesis (
  • plays an important role in activities associated with nuclear speckles
  • in conjunction with SRY, WDR5 plays an important role in sex determination
  • plays a role as a positive regulator of catecholamine synthesis and metabolism in the human male midbrain
  • nucleocytoplasmic shuttling of SRY is necessary for robust initiation of testicular development (PMId: 24003159)
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS reproduction/sex
    PATHWAY
    metabolism
    signaling
    a component
  • component of TDF
  • SRY, ZNF208/KRAB, and TRIM28 proteins formed a stable ternary protein complex (Peng 2009)
    • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interacting with CITED2 (CITED2 acts in the gonad with WT1 and NR5A1 to increase the expression of SRY levels to attain a critical threshold to efficiently initiate testis development) (Buaas 2009)
  • interactions with other co-regulators, particularly ZNF208, are essential for its functions as either a transactivator or repressor of its target genes (Peng 2009)
  • recruits the KRAB-TRIM28 complex as a chromatin modulator (Peng 2009)
  • binds directly to a testis-specific enhancer of SOX9 (TES) and activates SOX9 expression in co-operation with steroidogenic factor 1 (SF1)
  • TFCP2 is an essential transcription factor for SRY expression regulation
  • RPS7 (ribosomal protein S7) and RPL13a (ribosomal protein L13a) interact with the HMG (high-mobility group) box domain of SRY
  • SRY and NR5A1 co-operate to activate the human SOX9 homologous TES, a process dependent on phosphorylated NR5A1
  • SRY acts directly on the TCF21 promoter to in part initiate a cascade of events associated with Sertoli cell differentiation and embryonic testis development
  • WDR5, which encodes a WD-40 repeat protein, is a direct target of SRY (interaction of WDR5 with SRY resulted in activation of SOX9 while repressing the expression of CTNNB1)
  • HSPA8 plays a key role in CALM1-dependent nuclear import of SRY
  • SRY upregulation after dopamine cell injury is initially a protective response in males, but diminishes with gradual loss in dopamine cells, and dysregulation of SRY may potentially contribute the susceptibility of males to Parkinson disease
  • transcriptional factor SRY specifically binds to different sites in the promoter sequence and has the ability to control CATSPER1 gene transcription
    • cell & other
    REGULATION
    repressed by DAX1
    Other regulated by WT1 in the initial sex determination process
    ASSOCIATED DISORDERS
    corresponding disease(s) GDXY , XXTD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    -
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS