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Aliases & Descriptions for SRY
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| OTTHUMP00000034324 2 | | TDF 1, 2, 3, 5 | | TDY 2, 5 |
| | | Descriptions |
|---|
| Testis-determining factor 2, 3 | | essential protein for sex determination in human males 2 | | sex determining region Y 2 | | sex determining region protein 2 | | sex-determining region on Y 2 |
|
| | Search outside databases for aliases for SRY genePrevious GC identifers: GC0YM002562 GC0YM002300 |
Summaries for SRY(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for SRY: 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] UniProtKB/Swiss-Prot: SRY_HUMAN, Q05066Function: Transcriptional regulator which control 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). Facilitates 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 similarity)Gene Wiki entry for SRY |
Genomic Location for SRY
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the SRY gene 
Entrez Gene cytogenetic band: Yp11.3 Ensembl cytogenetic band: Yp11.31 HGNC cytogenetic band: Yp11.3SRY Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome Y GeneLoc Exon Structure GeneLoc location for GC0YM002698:
(about GC identifiers)
Start:
|
2,714,896 bp from pter |
End:
|
2,715,792 bp from pter |
Size:
|
897 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000024.8 NT_011896.9
| Proteins for SRY
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: SRY_HUMAN, Q05066 (See
protein sequence)Recommended Name: Sex-determining region Y protein Size: 204 amino acids; 23884 Da
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)
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)
Miscellaneous: 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
PDB structures from and Proteopedia :1HRY (3D)
 1HRZ (3D)
 1J46 (3D)
 1J47 (3D)
 Post-translational modifications:
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 activity1
REFSEQ proteins: NP_003131.1
ENSEMBL proteins: ENSP00000372547
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: SRY 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for SRY: Assays for SRY: | Protein
Domains/ Families for SRY(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q05066
ProtoNet protein and cluster: Q05066 UniProtKB/Swiss-Prot: SRY_HUMAN, Q05066Similarity: Belongs to the SRY familySimilarity: Contains 1 HMG box DNA-binding domain | Gene Function for SRY
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003140
Applied Biosystems Silencer® siRNAs for SRY
Sigma-Aldrich siRNA for SRY  Sigma-Aldrich shRNA for SRY  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_003140                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003140                                  untagged cDNA clone in CMV expression vector: NM_003140 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_003140
UniProtKB/Swiss-Prot: SRY_HUMAN, Q05066Function: Transcriptional regulator which control 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). Facilitates 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 similarity)Genatlas biochemistry entry for SRY:sex determining region Y,testis determining factor antagonized by DAX1,modulator of LINE retroposons promoter activity3 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Sry):
3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for SRY
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for SRY (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for SRY 
5/17 Interacting proteins for SRY (ENSP000003725473 Q050661, 2) via UniProtKB, MINT, and/or STRING (see all 17
)About this table
4 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for SRY(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for SRY 10/12 Novoseek chemical compound relationships for SRY gene (see all 12
)
About this table
|
Transcripts for SRY(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003140
Sigma-Aldrich siRNA for SRY  Sigma-Aldrich shRNA for SRY  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_003140 REFSEQ mRNAs for SRY gene: NM_003140.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_003140               OriGene GFP tagged cDNA clone in CMV expression vector: NM_003140                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_003140                                  untagged cDNA clone in CMV expression vector: NM_003140  Additional cDNA sequence: BC074923.2 BC074924.2 L10101.1 S53156.1 S56543.1 Z48512.1 Z48513.1 2 DOTS entries: DT.408945 DT.120652321 6 AceView cDNA sequences:BC074924 NM_003140 BC074923 L10101 Z48513 Z48512
highest scoring ESTs for SRY:L10101 S53156 S56543 BC074923 BC074924 NM_003140 L10102 Z48512 Z48513 BE349458 Unigene Cluster for SRY: Sex determining region Y Hs.1992 Unigene Representative Sequence: NM_003140
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000383070
|
Expression for SRY
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| SRY expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for SRY
1 / 2 / 3 3 probe-sets matching SRY gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CACAGAGAGA
SOURCE GeneReport for Unigene cluster: Hs.1992
Expression variation in blood from EXPOLDB for SRY |
Orthologs for SRY
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for SRY gene from 2 species
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
chimpanzee (Pan troglodytes) |
SRY1 |
-- |
sex determining region Y |
98.69(n) 96.57(a) |
449510 NM_001008988.1 NP_001008988.1 |
mouse (Mus musculus) |
Sry5 |
Y |
sex determining region of Chr Y |
-- |
X67204 |
About this table Species with no ortholog for SRY
ENSEMBL Gene Tree for SRY | Paralogs for SRY(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for SRY gene
- SOX92 SOX102 SOX82
|
SNPs/Variants for SRY(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| -- |
Disorders & Mutations for SRY
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 480000 disorders: 306100 235600 UniProtKB/Swiss-Prot: SRY_HUMAN, Q05066
Defects in SRY are a cause of gonadal dysgenesis XY female type (GDXY) [MIM:306100]; also known as 'XY females' or Swyer syndrome. Patients are found to have a 46,XY karyotype. They suffer 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. In contrast, subjects with 46,XY partial gonadal dysgenesis have ambiguous genitalia, a mix of Muellerian and Wolffian structures, and dysgenic gonads Defects in SRY are 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. Turner syndrome has its basis in a 45,X chromosomal aberration Defects in SRY are a cause of true hermaphroditism [MIM:235600]. A true hermaphrodite must have both mature ovarian and mature testicular tissue with histologic evidence of follicles and tubules, respectively. It is a genetically heterogeneous condition. The genotype of most affected individuals is 46,XX, but many have 46,XY or a mosaic of 46,XX/46,XY. True hermaphroditism can be caused also by chromosomal translocation10/33 Novoseek disease relationships for SRY gene (see all 33
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| pure gonadal dysgenesis |
92.59 |
25 |
17063144 (3), 8840551 (2), 8353496 (2), 16106197 (2) (see all 18) |
| swyer syndrome |
91.47 |
15 |
15183752 (2), 9341876 (2), 16846094 (2), 10803875 (1) (see all 11) |
| hermaphroditism, true |
89.81 |
14 |
12215841 (2), 1740318 (1), 1297452 (1), 7702097 (1) (see all 11) |
| gonadoblastoma |
87.01 |
6 |
10614539 (1), 9137884 (1), 7814028 (1), 8085778 (1) (see all 6) |
| primary amenorrhea |
77.66 |
1 |
17493621 (1) |
| campomelic dysplasia |
77.27 |
2 |
10798354 (1), 11990798 (1) |
| gonadal dysgenesis mixed |
76.70 |
6 |
16045561 (2), 15223166 (2), 11694229 (1), 9250915 (1) |
| turners syndrome |
73.81 |
10 |
15223166 (2), 8530595 (2), 15687343 (1), 19030103 (1) (see all 8) |
| virilization |
73.73 |
4 |
7913293 (1), 15652914 (1), 8033363 (1), 12818524 (1) |
| testicular regression syndrome |
73.09 |
1 |
16106197 (1) |
About this table
Genatlas disease: SRY gonadal dysgenesis,Swyer syndrome,XY female complete or incomplete sex reversal GeneTests: SRY 46 Human Gene Mutation Database: SRY Genetic Association Database: SRY Human Genome Epidemiology Navigator: SRY (1 document)
|
Medical News for SRY(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for SRY (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/319 PubMed articles for SRY gene (see all 319
):- Mutational analysis of SRY in XY females. (PubMed id 8257986)1, 3, 4 Hawkins J.R. (1993)
- Regulation of human SRY subcellular distribution by its acetylation/deacetylation. (PubMed id 15297880)1, 3, 4 Thevenet L....Boizet-Bonhoure B. (2004)
- Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. (PubMed id 1339396)1, 3, 4 Hawkins J.R....Goodfellow P.N. (1992)
- Genetic evidence equating SRY and the testis-determining factor. (PubMed id 2247149)1, 3, 4 Berta P.... Fellous M. (1990)
- Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. (PubMed id 17063144)1, 3, 4 Gimelli G.... Zuffardi O. (2007)
- KRAB: a partner for SRY action on chromatin. (PubMed id 16414182)1, 3, 4 Oh H.J. and Lau Y.F. (2006)
- Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations. (PubMed id 9678356)1, 3, 4 Scherer G....Midro A.T. (1998)
- Defective importin beta recognition and nuclear import of the sex- determining factor SRY are associated with XY sex-reversing mutations. (PubMed id 12764225)1, 3, 4 Harley V.R.... Jans D.A. (2003)
- Molecular basis of mammalian sexual determination: activation of Mullerian inhibiting substance gene expression by SRY. (PubMed id 7985018)1, 3, 4 Haqq C.M....Weiss M.A. (1994)
- A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. (PubMed id 8105086)1, 3, 4 Zeng Y.... Huang S. (1993)
|
Search for SRY
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SRY
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SRY
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SRY(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for SRY | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.genetests.org/query?gene=SRY | | Protein Spotlight | http://www.expasy.org/spotlight/back_issues/sptlt080.shtml | | Wikipedia | http://en.wikipedia.org/wiki/SRY |
|
| | | About This Section
| --
| Services for SRY(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for SRY:

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Incremental update: 13 Oct 2009
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