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Aliases for SRY Gene

Aliases for SRY Gene

  • Sex Determining Region Y 2 3 5
  • Testis-Determining Factor 2 4
  • TDF 3 4
  • Essential Protein For Sex Determination In Human Males 3
  • Sex-Determining Region Y Protein 3
  • Testis-Determining Factor On Y 3
  • Sex-Determining Region On Y 3
  • SRXX1 3
  • SRXY1 3
  • TDY 3

External Ids for SRY Gene

Previous GeneCards Identifiers for SRY Gene

  • GC0YM002562
  • GC0YM002300
  • GC0YM000007

Summaries for SRY Gene

Entrez Gene Summary for SRY Gene

  • This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for SRY Gene

SRY (Sex Determining Region Y) is a Protein Coding gene. Diseases associated with SRY include 46Xy Sex Reversal 1 and 46Xx Sex Reversal 1. Among its related pathways are Signaling by Wnt and CCR5 Pathway in Macrophages. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is SOX3.

UniProtKB/Swiss-Prot for SRY Gene

  • 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.

Gene Wiki entry for SRY Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SRY Gene

Genomics for SRY Gene

Regulatory Elements for SRY Gene

Enhancers for SRY Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0YF002786 0.2 ENCODE 0.8 +0.4 414 0.8 POLR2A RNU6-1334P SRY
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SRY on UCSC Golden Path with GeneCards custom track

Genomic Location for SRY Gene

Chromosome:
Y
Start:
2,786,855 bp from pter
End:
2,787,741 bp from pter
Size:
887 bases
Orientation:
Minus strand

Genomic View for SRY Gene

Genes around SRY on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SRY Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SRY Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SRY Gene

Proteins for SRY Gene

  • Protein details for SRY Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05066-SRY_HUMAN
    Recommended name:
    Sex-determining region Y protein
    Protein Accession:
    Q05066

    Protein attributes for SRY Gene

    Size:
    204 amino acids
    Molecular mass:
    23884 Da
    Quaternary structure:
    • Interacts with CALM, EP300, HDAC3, KPNB1, ZNF208 isoform KRAB-O, PARP1, SLC9A3R2 and WT1. The interaction with EP300 modulates its DNA-binding activity. The interaction with KPNB1 is sensitive to dissociation by Ran in the GTP-bound form (By similarity). Interaction with PARP1 impaired its DNA-binding activity (By similarity).

    Three dimensional structures from OCA and Proteopedia for SRY Gene

neXtProt entry for SRY Gene

Post-translational modifications for SRY Gene

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

Other Protein References for SRY Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SRY Gene

Domains & Families for SRY Gene

Protein Domains for SRY Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q05066

UniProtKB/Swiss-Prot:

SRY_HUMAN :
  • 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.
  • Belongs to the SRY family.
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.
  • Contains 1 HMG box DNA-binding domain.
Family:
  • Belongs to the SRY family.
genes like me logo Genes that share domains with SRY: view

No data available for Gene Families for SRY Gene

Function for SRY Gene

Molecular function for SRY Gene

GENATLAS Biochemistry:
sex determining region Y,testis determining factor antagonized by DAX1,modulator of LINE retroposons promoter activity
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for SRY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 1425584
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA 21412441
GO:0005516 calmodulin binding IEA --
GO:0008134 transcription factor binding IPI 16582099
genes like me logo Genes that share ontologies with SRY: view
genes like me logo Genes that share phenotypes with SRY: view

Human Phenotype Ontology for SRY Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Transcription Factor Targets for SRY Gene

Selected GeneGlobe predicted Target genes for SRY

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA and HOMER Transcription for SRY Gene

Localization for SRY Gene

Subcellular locations from UniProtKB/Swiss-Prot for SRY Gene

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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SRY Gene COMPARTMENTS Subcellular localization image for SRY gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2
mitochondrion 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for SRY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 1425584
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with SRY: view

Pathways & Interactions for SRY Gene

genes like me logo Genes that share pathways with SRY: view

Pathways by source for SRY Gene

SIGNOR curated interactions for SRY Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SRY Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0007548 sex differentiation IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with SRY: view

Drugs & Compounds for SRY Gene

(15) Drugs for SRY Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(6) Additional Compounds for SRY Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SRY: view

Transcripts for SRY Gene

mRNA/cDNA for SRY Gene

(1) REFSEQ mRNAs :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SRY Gene

No ASD Table

Relevant External Links for SRY Gene

GeneLoc Exon Structure for
SRY
ECgene alternative splicing isoforms for
SRY

Expression for SRY Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SRY Gene

mRNA differential expression in normal tissues according to GTEx for SRY Gene

This gene is overexpressed in Testis (x13.1), Skin - Sun Exposed (Lower leg) (x8.3), and Skin - Not Sun Exposed (Suprapubic) (x7.1).

NURSA nuclear receptor signaling pathways regulating expression of SRY Gene:

SRY

SOURCE GeneReport for Unigene cluster for SRY Gene:

Hs.1992
genes like me logo Genes that share expression patterns with SRY: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SRY Gene

Orthologs for SRY Gene

This gene was present in the common ancestor of animals.

Orthologs for SRY Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SRY 34 35
  • 98.69 (n)
cow
(Bos Taurus)
Mammalia SRY 34 35
  • 73.09 (n)
zebrafish
(Danio rerio)
Actinopterygii sox19b 35
  • 24 (a)
ManyToMany
sox19a 35
  • 22 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta SoxN 35
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sox-2 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 16 (a)
OneToMany
Species where no ortholog for SRY was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SRY Gene

ENSEMBL:
Gene Tree for SRY (if available)
TreeFam:
Gene Tree for SRY (if available)

Paralogs for SRY Gene

genes like me logo Genes that share paralogs with SRY: view

Variants for SRY Gene

Sequence variations from dbSNP and Humsavar for SRY Gene

SNP ID Clin Chr 0Y pos Sequence Context AA Info Type
rs104894956 46,XY sex reversal 1 (SRXY1) [MIM:400044], Pathogenic 2,787,278(-) GCCAT(C/T)CTTCC reference, missense
rs104894957 46,XY sex reversal 1 (SRXY1) [MIM:400044], Pathogenic 2,787,426(-) ATAGA(C/G)TGAAG reference, missense
rs104894959 46,XY sex reversal 1 (SRXY1) [MIM:400044], Pathogenic 2,787,334(-) GAGAT(C/G)AGCAA reference, missense
rs104894964 46,XY sex reversal 1 (SRXY1) [MIM:400044], Pathogenic 2,787,287(-) CGAAA(A/T)ATGGC reference, missense
rs104894966 46,XY sex reversal 1 (SRXY1) [MIM:400044], Pathogenic 2,787,267(-) AGGAG(A/G)CACAG reference, missense

Variation tolerance for SRY Gene

Gene Damage Index Score: 0.02; 0.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SRY Gene

Human Gene Mutation Database (HGMD)
SRY
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SRY

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SRY Gene

Disorders for SRY Gene

MalaCards: The human disease database

(45) MalaCards diseases for SRY Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
46xy sex reversal 1
  • swyer syndrome
46xx sex reversal 1
  • 46,xx sex reversal 1
46,xx testicular disorder of sex development
  • 46,xx testicular dsd
46 xy gonadal dysgenesis
  • 46,xy sex reversal
46,xy partial gonadal dysgenesis
  • 46,xy pgd
- elite association - COSMIC cancer census association via MalaCards
Search SRY in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SRY_HUMAN
  • 46,XX sex reversal 1 (SRXX1) [MIM:400045]: A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269 PubMed:10602113, ECO:0000269 PubMed:9652903}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:10670762, ECO:0000269 PubMed:10721678, ECO:0000269 PubMed:10843173, ECO:0000269 PubMed:10852465, ECO:0000269 PubMed:12107262, ECO:0000269 PubMed:12793612, ECO:0000269 PubMed:1339396, ECO:0000269 PubMed:1415266, ECO:0000269 PubMed:1483689, ECO:0000269 PubMed:1570829, ECO:0000269 PubMed:17063144, ECO:0000269 PubMed:2247149, ECO:0000269 PubMed:7717397, ECO:0000269 PubMed:7776083, ECO:0000269 PubMed:7985018, ECO:0000269 PubMed:8019555, ECO:0000269 PubMed:8105086, ECO:0000269 PubMed:8353496, ECO:0000269 PubMed:8447323, ECO:0000269 PubMed:9450909, ECO:0000269 PubMed:9521592, ECO:0000269 PubMed:9678356, ECO:0000269 Ref.41, ECO:0000269 Ref.47}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

Genatlas disease for SRY Gene

gonadal dysgenesis,Swyer syndrome,XY female complete or incomplete sex reversal

Relevant External Links for SRY

Genetic Association Database (GAD)
SRY
Human Genome Epidemiology (HuGE) Navigator
SRY
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SRY
genes like me logo Genes that share disorders with SRY: view

Publications for SRY Gene

  1. Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. (PMID: 17063144) Gimelli G. … Zuffardi O. (Eur. J. Hum. Genet. 2007) 3 4 22 64
  2. KRAB: a partner for SRY action on chromatin. (PMID: 16414182) Oh H.J. … Lau Y.F. (Mol. Cell. Endocrinol. 2006) 3 4 22 64
  3. Regulation of human SRY subcellular distribution by its acetylation/deacetylation. (PMID: 15297880) Thevenet L. … Boizet-Bonhoure B. (EMBO J. 2004) 3 4 22 64
  4. Defective importin beta recognition and nuclear import of the sex- determining factor SRY are associated with XY sex-reversing mutations. (PMID: 12764225) Harley V.R. … Jans D.A. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 22 64
  5. Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations. (PMID: 9678356) Scherer G. … Midro A.T. (Cytogenet. Cell Genet. 1998) 3 4 22 64

Products for SRY Gene

Sources for SRY Gene

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