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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
Y
Cytoband
p11.2
Chromosome location (bp)
2786855 - 2787682
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional regulator that controls a genetic switch in male development 1. 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 2,3. Involved in different aspects of gene regulation including promoter activation or repression 4. Binds to the DNA consensus sequence 5'- [AT]AACAA[AT]-3' 5,6,7,8,9. SRY HMG box recognizes DNA by partial intercalation in the minor groove and promotes DNA bending 10,11,12,13,14,15. Also involved in pre-mRNA splicing 16. In male adult brain involved in the maintenance of motor functions of dopaminergic neurons (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Differentiation, Sexual differentiation, Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q05066 [Direct mapping] Sex-determining region Y protein
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A7WPU8 [Target identity:100%; Query identity:100%] Sex-determining region Y protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Other all-alpha-helical DNA-binding domains Disease related genes Human disease related genes Reproductive system diseases Reproductive system diseases Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005516[calmodulin binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0007548[sex differentiation] GO:0009653[anatomical structure morphogenesis] GO:0010628[positive regulation of gene expression] GO:0016607[nuclear speck] GO:0030154[cell differentiation] GO:0030238[male sex determination] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0140297[DNA-binding transcription factor binding] GO:2000020[positive regulation of male gonad development]
The Human Protein Atlas project is funded
