Human Gene SRY (ENST00000383070.2_6) from GENCODE V47lift37
  Description: sex determining region Y (from RefSeq NM_003140.3)
Gencode Transcript: ENST00000383070.2_6
Gencode Gene: ENSG00000184895.8_8
Transcript (Including UTRs)
   Position: hg19 chrY:2,654,896-2,655,723 Size: 828 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chrY:2,655,030-2,655,644 Size: 615 Coding Exon Count: 1 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrY:2,654,896-2,655,723)mRNA (may differ from genome)Protein (204 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SRY_HUMAN
DESCRIPTION: RecName: Full=Sex-determining region Y protein; AltName: Full=Testis-determining factor;
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'.
SUBUNIT: Interacts with CALM, EP300, HDAC3, KPNB1, ZNF208 isoform KRAB-O, PARP1, SLC9A3R2 and WT1. The interaction with EP300 modulates its DNA-binding activity. The interaction with KPNB1 is sensitive to dissociation by Ran in the GTP-bound form (By similarity). Interaction with PARP1 impaired its DNA-binding activity (By similarity).
INTERACTION: P84022:SMAD3; NbExp=3; IntAct=EBI-464987, EBI-347161;
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-O and tyrosine hydroxylase (TH) (By similarity).
DOMAIN: DNA binding and bending properties of the HMG domains of human and mouse SRY differ form each other. Human SRY shows more extensive minor groove contacts with DNA and a lower specificity of sequence recognition than mouse SRY.
PTM: Phosphorylated on serine residues by PKA. Phosphorylation by PKA enhances its DNA-binding activity and stimulates transcription repression. Acetylation of Lys-136 contributes to its nuclear localization and enhances its interaction with KPNB1. Deacetylated by HDAC3. Poly-ADP-ribosylated by PARP1. ADP-ribosylation reduces its DNA-binding activity.
DISEASE: Defects in SRY are the cause of 46,XY sex reversal type 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.
DISEASE: Note=A 45,X chromosomal aberration involving SRY is found in Turner syndrome, a disease characterized by gonadal dysgenesis with short stature, "streak gonads", variable abnormalities such as webbing of the neck, cubitus valgus, cardiac defects, low posterior hair line. The phenotype is female.
DISEASE: Defects in SRY are the cause of 46,XX sex reversal type 1 (SRXX1) [MIM:400045]. A condition in which male gonads develop in a genetic female (female to male sex reversal).
SIMILARITY: Belongs to the SRY family.
SIMILARITY: Contains 1 HMG box DNA-binding domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SRY";
WEB RESOURCE: Name=Protein Spotlight; Note=The tenuous nature of sex - Issue 80 of March 2007; URL="http://web.expasy.org/spotlight/back_issues/sptlt080.shtml";
WEB RESOURCE: Name=Wikipedia; Note=SRY entry; URL="http://en.wikipedia.org/wiki/SRY";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SRY
Diseases sorted by gene-association score: 46xx sex reversal 1* (1371), 46xy sex reversal 1* (1200), 46 xy gonadal dysgenesis* (389), 46,xy partial gonadal dysgenesis* (175), sry-related 46,xy dsd and 46,xy cgd* (100), gonadal dysgenesis (50), mixed gonadal dysgenesis (36), turner syndrome (33), gonadoblastoma (26), 45,x/46,xy mixed gonadal dysgenesis* (25), hermaphroditism (25), campomelic dysplasia (25), androgen insensitivity (23), testicular regression syndrome (19), anorchia (18), frasier syndrome (17), leri-weill dyschondrosteosis (14), gynecomastia (13), hypospadias (13), testicular disease (11), non-gestational ovarian choriocarcinoma (11), choriocarcinoma of ovary (10), persistent mullerian duct syndrome (9), fibrosclerosis of breast (9), wagr syndrome (7), non-proliferative fibrocystic change of the breast (7), complete androgen insensitivity syndrome (6), sex differentiation disease (6), amenorrhea (6), freemartinism (6), cystadenofibroma (6), gonadal disease (6), male reproductive system disease (5), atypical choroid plexus papilloma (4), ovarian primitive germ cell tumor (4), male infertility (4), alternating hemiplegia of childhood (4), brain germinoma (4), primary syphilis (4), wilms tumor susceptibility-5 (2), reproductive system disease (2), human immunodeficiency virus infectious disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.99 RPKM in Testis
Total median expression: 5.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -7.8079-0.099 Picture PostScript Text
3' UTR -14.10134-0.105 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009071 - HMG_superfamily
IPR017253 - TF_Sry

Pfam Domains:
PF00505 - HMG (high mobility group) box
PF09011 - HMG-box domain

SCOP Domains:
47095 - HMG-box

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1HRY - NMR 1HRZ - NMR 1J46 - NMR MuPIT 1J47 - NMR MuPIT 2GZK - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q05066
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0005516 calmodulin binding
GO:0008134 transcription factor binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007548 sex differentiation
GO:0030154 cell differentiation
GO:0030238 male sex determination
GO:0045893 positive regulation of transcription, DNA-templated
GO:2000020 positive regulation of male gonad development

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  L10101 - Homo sapiens sex-determining region Y (SRY) mRNA, complete cds.
BC074923 - Homo sapiens sex determining region Y, mRNA (cDNA clone MGC:103878 IMAGE:30915260), complete cds.
BC074924 - Homo sapiens sex determining region Y, mRNA (cDNA clone MGC:104040 IMAGE:30915485), complete cds.
EU446863 - Synthetic construct Homo sapiens clone IMAGE:100070152; IMAGE:100012072; FLH257413.01L sex determining region Y (SRY) gene, encodes complete protein.
AB464705 - Synthetic construct DNA, clone: pF1KB9646, Homo sapiens SRY gene for sex determining region Y, without stop codon, in Flexi system.
S53156 - SRY (SRYF109S)=testis-determining factor [human, XY female, mRNA Partial Mutant, 424 nt].
S56543 - SRY=male gonadal sex-determining locus [human, 46,XY individual, mRNA Partial Mutant, 288 nt].
JD304391 - Sequence 285415 from Patent EP1572962.
MH972534 - Homo sapiens isolate P5-8 sex-determining region Y protein (SRY) mRNA, complete cds.
MH972535 - Homo sapiens isolate P7-1 sex-determining region Y protein (SRY) mRNA, complete cds.
MH972536 - Homo sapiens isolate P9-3 sex-determining region Y protein (SRY) mRNA, complete cds.
MH972537 - Homo sapiens isolate P13-1 sex-determining region Y protein (SRY) mRNA, complete cds.
MK011510 - Homo sapiens isolate P17A-3 sex-determining region Y protein (SRY) mRNA, complete cds.
MK011511 - Homo sapiens isolate P14-4 sex-determining region Y protein (SRY) mRNA, complete cds.
MK011512 - Homo sapiens isolate P17B-2 sex-determining region Y protein (SRY) mRNA, complete cds.
MK011513 - Homo sapiens isolate P17A-4 sex-determining region Y protein (SRY) mRNA, complete cds.
MK011514 - Homo sapiens isolate P2-7 sex-determining region Y protein (SRY) mRNA, complete cds.
MK011515 - Homo sapiens isolate P3-6 sex-determining region Y protein (SRY) mRNA, complete cds.
MK011516 - Homo sapiens isolate P3-9 sex-determining region Y protein (SRY) mRNA, complete cds.
MK011519 - Homo sapiens isolate P13-3 sex-determining region Y protein (SRY) mRNA, complete cds.
MK011517 - Homo sapiens isolate P4-8 sex-determining region Y protein (SRY) mRNA, partial cds.
MK011518 - Homo sapiens isolate P12-1 sex-determining region Y protein (SRY) mRNA, partial cds.
MH972533 - Homo sapiens isolate P15-4 truncated sex-determining region Y protein (SRY) mRNA, complete cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q05066 (Reactome details) participates in the following event(s):

R-HSA-5626938 Beta-catenin binds SOX proteins
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-195721 Signaling by WNT
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000383070.1, NM_003140, Q05066, SRY , SRY_HUMAN, TDF , uc318rcu.1, uc318rcu.2
UCSC ID: ENST00000383070.2_6
RefSeq Accession: NM_003140.3
Protein: Q05066 (aka SRY_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SRY:
gonad-dys-46xy (Nonsyndromic Disorders of Testicular Development Overview)
xxms (Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.