Sequence in raw or FASTA format:
SRY sex determining region Y [Homo sapiens (human)]
|Entrez Gene ID||6736|
|Full Name||sex determining region Y|
|Synonyms||SRXX1, SRXY1, TDF, TDY|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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].|
46XY complete gonadal dysgenesis, 400044 (3); 46XX true
|ar_tf_pathway||Regulation of Androgen receptor activity|
|Homo sapiens (human)||SRY||NP_003131.1|
|Pan troglodytes (chimpanzee)||SRY||NP_001008988.1|
|Bos taurus (cattle)||SRY||NP_001014407.1|
|GO:0006357||regulation of transcription from RNA polymerase II promoter||IDA|
|GO:0006366||transcription from RNA polymerase II promoter||IDA|
|GO:0030238||male sex determination||NAS|
|GO:0045893||positive regulation of transcription, DNA-templated||IDA|
|GO:2000020||positive regulation of male gonad development||IDA|
|GO:0003705||RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity||IDA|
|GO:0008134||transcription factor binding||IPI|
|PDB||1HRY, 1HRZ, 2GZK, 1J47, 1J46|
What is the normal function of the SRY gene?
The SRY gene provides instructions for making a transcription factor called the sex-determining region Y protein. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The sex-determining region Y protein causes a fetus to develop as a male.
People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). The SRY gene is located on the Y chromosome.
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