MKRN3
entrez
7681
canonical
uniprot
Q13064
canonical
ensembl
ENSG00000179455
resolver
ensp
ENSP00000313881
resolver
enst
ENST00000314520
resolver
genesymbol
MKRN3
resolver
genesymbol_syn
D15S9
resolver
genesymbol_syn
RNF63
resolver
genesymbol_syn
ZNF127
resolver
hgnc
HGNC:7114
resolver
uniprot_entry
MKRN3_HUMAN
resolver
amino_acid_sequence
MEEPAAPSEAHEAAGAQAGAEAAREGVSGPDLPVCEPSGESAAPDSALPHAARGWAPFPVAPVPAHLRRGGLRPAPASGGGAWPSPLPSRSSGIWTKQIICRYYIHGQCKEGENCRYSHDLSGRKMATEGGVSPPGASAGGGPSTAAHIEPPTQEVAEAPPAASSLSLPVIGSAAERGFFEAERDNADRGAAGGAGVESWADAIEFVPGQPYRGRWVASAPEAPLQSSETERKQMAVGSGLRFCYYASRGVCFRGESCMYLHGDICDMCGLQTLHPMDAAQREEHMRACIEAHEKDMELSFAVQRGMDKVCGICMEVVYEKANPNDRRFGILSNCNHSFCIRCIRRWRSARQFENRIVKSCPQCRVTSELVIPSEFWVEEEEEKQKLIQQYKEAMSNKACRYFAEGRGNCPFGDTCFYKHEYPEGWGDEPPGPGGGSFSAYWHQLVEPVRMGEGNMLYKSIKKELVVLRLASLLFKRFLSLRDELPFSEDQWDLLHYELEEYFNLIL
uniprot
proteins
disease_involvement
DISEASE: Precocious puberty, central 2 (CPPB2) [MIM:615346]: A condition defined as the development of secondary sexual characteristics in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of puberty in the population. Central precocious puberty results from premature activation of the hypothalamic-pituitary-gonadal axis. {ECO:0000269|PubMed:23738509, ECO:0000269|PubMed:24438377, ECO:0000269|PubMed:24628548, ECO:0000269|PubMed:25011910, ECO:0000269|PubMed:25316453, ECO:0000269|PubMed:34692086, ECO:0000269|PubMed:38705397}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
FUNCTION: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. Acts as a key developmental timer that helps ensure puberty begins at the appropriate age, by inhibiting premature activation of the reproductive hormone cascade. Epigenetically regulates GNRH1 transcription by disrupting the binding of methyl-DNA binding protein 3/MBD3 to the promoter of GNRH1. Mechanistically, mediates the non-proteolytic ubiquitination of MBD3 at multiple sites with 'Lys27' ubiquitin linkages and thereby regulates the methylation status of the genome, including GNRH1 promoter (PubMed:34692086). Modulates the stability and translation of GNRH1 mRNA by mediating the non-proteolytic ubiquitination of PABP family members PABPC1, PABPC3 and PABPC4 at multiple sites (PubMed:33744966). Also participates in the maintenance of genomic and epigenomic stability by regulating the abundance of APEX2 via 'Lys-48'-linked ubiquitination (PubMed:38705397). {ECO:0000250|UniProtKB:Q60764, ECO:0000269|PubMed:19066619, ECO:0000269|PubMed:34692086, ECO:0000269|PubMed:38705397}.
uniprot
proteins
mass_dalton
55645
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
pubmed
10196367
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19066619
uniprot
proteins
pubmed
23738509
uniprot
proteins
pubmed
24438377
uniprot
proteins
pubmed
24628548
uniprot
proteins
pubmed
25011910
uniprot
proteins
pubmed
25316453
uniprot
proteins
pubmed
33744966
uniprot
proteins
pubmed
34692086
uniprot
proteins
pubmed
38705397
uniprot
proteins
sequence_length
507
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:34692086}.
uniprot
proteins