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MGP000889

UniProt Annotations

Entry Information

Gene Name	dual specificity phosphatase 6
Protein Entry	DUS6_HUMAN
UniProt ID	Q16828
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16828-1; Sequence=Displayed; Name=2; Synonyms=DUSP6-ALT; IsoId=Q16828-2; Sequence=VSP_005137;
Catalytic Activity	[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
Catalytic Activity	Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
Disease	Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic- pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269\|PubMed:23643382}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in DUSP6 also have a heterozygous mutation in another HH-associated gene including FGFR1 and SPRY4 (PubMed:23643382). {ECO:0000269\|PubMed:23643382}.
Function	Inactivates MAP kinases. Has a specificity for the ERK family.
Similarity	Belongs to the protein-tyrosine phosphatase family. Non-receptor class dual specificity subfamily. {ECO:0000305}.
Similarity	Contains 1 rhodanese domain. {ECO:0000255\|PROSITE- ProRule:PRU00173}.
Similarity	Contains 1 tyrosine-protein phosphatase domain. {ECO:0000305}.
Subcellular Location	Cytoplasm.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/DUSP6ID46105ch12q21.html";