DUSP6
entrez
1848
canonical
uniprot
Q16828
canonical
ensembl
ENSG00000139318
resolver
ensp
ENSP00000279488
resolver
ensp
ENSP00000307835
resolver
genesymbol
DUSP6
resolver
genesymbol_syn
MKP3
resolver
genesymbol_syn
PYST1
resolver
hgnc
HGNC:3072
resolver
uniprot
O75109
resolver
uniprot
Q53GP9
resolver
uniprot
Q53Y75
resolver
uniprot
Q9BSH6
resolver
uniprot_entry
DUS6_HUMAN
resolver
uniprot_entry
Q53GP9_HUMAN
resolver
uniprot_sec
O75109
resolver
uniprot_sec
Q53Y75
resolver
uniprot_sec
Q9BSH6
resolver
amino_acid_sequence
MIDTLRPVPFASEMAISKTVAWLNEQLELGNERLLLMDCRPQELYESSHIESAINVAIPGIMLRRLQKGNLPVRALFTRGEDRDRFTRRCGTDTVVLYDESSSDWNENTGGESVLGLLLKKLKDEGCRAFYLEGGFSKFQAEFSLHCETNLDGSCSSSSPPLPVLGLGGLRISSDSSSDIESDLDRDPNSATDSDGSPLSNSQPSFPVEILPFLYLGCAKDSTNLDVLEEFGIKYILNVTPNLPNLFENAGEFKYKQIPISDHWSQNLSQFFPEAISFIDEARGKNCGVLVHCLAGISRSVTVTVAYLMQKLNLSMNDAYDIVKMKKSNISPNFNFMGQLLDFERTLGLSSPCDNRVPAQQLYFTTPSNQNVYQVDSLQST
uniprot
proteins
disease_involvement
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 variants 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}.
uniprot
proteins
ec_number
3.1.3.16
uniprot
proteins
ec_number
3.1.3.48
uniprot
proteins
function
FUNCTION: Dual specificity protein phosphatase, which mediates dephosphorylation and inactivation of MAP kinases (PubMed:8670865). Has a specificity for the ERK family (PubMed:8670865). Plays an important role in alleviating chronic postoperative pain (By similarity). Necessary for the normal dephosphorylation of the long-lasting phosphorylated forms of spinal MAPK1/3 and MAP kinase p38 induced by peripheral surgery, which drives the resolution of acute postoperative allodynia (By similarity). Also important for dephosphorylation of MAPK1/3 in local wound tissue, which further contributes to resolution of acute pain (By similarity). Promotes cell differentiation by regulating MAPK1/MAPK3 activity and regulating the expression of AP1 transcription factors (PubMed:29043977). {ECO:0000250|UniProtKB:Q9DBB1, ECO:0000269|PubMed:29043977, ECO:0000269|PubMed:8670865}.
uniprot
proteins
mass_dalton
42320
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the SCF(FBXO31) complex, leading to its proteasomal degradation. {ECO:0000269|PubMed:34686346}.
uniprot
proteins
protein_family
Non-receptor class dual specificity subfamily
uniprot
proteins
protein_family
Protein-tyrosine phosphatase family
uniprot
proteins
pubmed
10048930
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23643382
uniprot
proteins
pubmed
29043977
uniprot
proteins
pubmed
32721402
uniprot
proteins
pubmed
34686346
uniprot
proteins
pubmed
8670865
uniprot
proteins
pubmed
9858808
uniprot
proteins
sequence_length
381
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8670865}.
uniprot
proteins