InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DUSP6

Summary

InnateDB Protein

IDBP-50528.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DUSP6

Protein Name

dual specificity phosphatase 6

Synonyms

HH19; MKP3; PYST1;

Species

Homo sapiens

Ensembl Protein

ENSP00000307835

InnateDB Gene

IDBG-50524 (DUSP6)

Protein Structure

UniProt Annotation

Function

Inactivates MAP kinases. Has a specificity for the ERK family.

Subcellular Localization

Cytoplasm.

Disease Associations

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:0000269PubMed: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:0000269PubMed:23643382}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.

Experimentally validated
Total	18 [view]
Protein-Protein	14 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004725	protein tyrosine phosphatase activity
GO:0008138	protein tyrosine/serine/threonine phosphatase activity
GO:0016791	phosphatase activity
GO:0017017	MAP kinase tyrosine/serine/threonine phosphatase activity

Biological Process

GO:0000188	inactivation of MAPK activity
GO:0002224	toll-like receptor signaling pathway
GO:0002755	MyD88-dependent toll-like receptor signaling pathway
GO:0002756	MyD88-independent toll-like receptor signaling pathway
GO:0006470	protein dephosphorylation
GO:0009953	dorsal/ventral pattern formation
GO:0016311	dephosphorylation
GO:0034134	toll-like receptor 2 signaling pathway
GO:0034138	toll-like receptor 3 signaling pathway
GO:0034142	toll-like receptor 4 signaling pathway
GO:0034146	toll-like receptor 5 signaling pathway
GO:0034162	toll-like receptor 9 signaling pathway
GO:0034166	toll-like receptor 10 signaling pathway
GO:0035335	peptidyl-tyrosine dephosphorylation
GO:0035666	TRIF-dependent toll-like receptor signaling pathway
GO:0038123	toll-like receptor TLR1:TLR2 signaling pathway
GO:0038124	toll-like receptor TLR6:TLR2 signaling pathway
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway
GO:0042663	regulation of endodermal cell fate specification
GO:0043065	positive regulation of apoptotic process
GO:0045087	innate immune response
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0051403	stress-activated MAPK cascade
GO:0051409	response to nitrosative stress
GO:0060420	regulation of heart growth
GO:0070373	negative regulation of ERK1 and ERK2 cascade

Cellular Component

GO:0005654	nucleoplasm
GO:0005737	cytoplasm

Protein Structure and Domains

PDB ID

InterPro

IPR000340 Dual specificity phosphatase, catalytic domain
IPR000387 Protein-tyrosine/Dual specificity phosphatase
IPR001763 Rhodanese-like domain
IPR020422 Dual specificity phosphatase, subgroup, catalytic domain
IPR029021 Protein-tyrosine phosphatase-like

PFAM

PF00782
PF00581

PRINTS

PIRSF

SMART

SM00450
SM00195

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q16828