EDC3
entrez
80153
canonical
uniprot
Q96F86
canonical
ensembl
ENSG00000179151
resolver
ensp
ENSP00000320503
resolver
ensp
ENSP00000401343
resolver
ensp
ENSP00000455580
resolver
ensp
ENSP00000497737
resolver
ensp
ENSP00000545306
resolver
ensp
ENSP00000545307
resolver
ensp
ENSP00000545309
resolver
ensp
ENSP00000545310
resolver
ensp
ENSP00000604343
resolver
ensp
ENSP00000604344
resolver
enst
ENST00000315127
resolver
enst
ENST00000426797
resolver
enst
ENST00000568176
resolver
enst
ENST00000647659
resolver
enst
ENST00000875247
resolver
enst
ENST00000875248
resolver
enst
ENST00000875250
resolver
enst
ENST00000875251
resolver
enst
ENST00000934284
resolver
enst
ENST00000934285
resolver
genesymbol
EDC3
resolver
genesymbol_syn
LSM16
resolver
genesymbol_syn
YJDC
resolver
genesymbol_syn
YJEFN2
resolver
hgnc
HGNC:26114
resolver
uniprot
B3KPH0
resolver
uniprot
D3DW61
resolver
uniprot
Q9H797
resolver
uniprot_entry
EDC3_HUMAN
resolver
uniprot_sec
B3KPH0
resolver
uniprot_sec
D3DW61
resolver
uniprot_sec
Q9H797
resolver
amino_acid_sequence
MATDWLGSIVSINCGDSLGVYQGRVSAVDQVSQTISLTRPFHNGVKCLVPEVTFRAGDITELKILEIPGPGDNQHFGDLHQTELGPSGAGCQVGINQNGTGKFVKKPASSSSAPQNIPKRTDVKSQDVAVSPQQQQCSKSYVDRHMESLSQSKSFRRRHNSWSSSSRHPNQATPKKSGLKNGQMKNKDDECFGDDIEEIPDTDFDFEGNLALFDKAAVFEEIDTYERRSGTRSRGIPNERPTRYRHDENILESEPIVYRRIIVPHNVSKEFCTDSGLVVPSISYELHKKLLSVAEKHGLTLERRLEMTGVCASQMALTLLGGPNRLNPKNVHQRPTVALLCGPHVKGAQGISCGRHLANHDVQVILFLPNFVKMLESITNELSLFSKTQGQQVSSLKDLPTSPVDLVINCLDCPENVFLRDQPWYKAAVAWANQNRAPVLSIDPPVHEVEQGIDAKWSLALGLPLPLGEHAGRIYLCDIGIPQQVFQEVGINYHSPFGCKFVIPLHSA
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal recessive 50 (MRT50) [MIM:616460]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT50 patients show mild intellectual disability and microcephaly. {ECO:0000269|PubMed:25701870}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Binds single-stranded RNA. Involved in the process of mRNA degradation and in the positive regulation of mRNA decapping. May play a role in spermiogenesis and oogenesis. {ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:17533573, ECO:0000269|PubMed:18678652, ECO:0000269|PubMed:25701870}.
uniprot
proteins
mass_dalton
56078
uniprot
proteins
mutagenesis
MUTAGEN 204; /note="F->A: Abolishes interaction with DDX6; when associated with A-206."; /evidence="ECO:0000269|PubMed:19285948"; MUTAGEN 206; /note="F->A: Abolishes interaction with DDX6; when associated with A-204."; /evidence="ECO:0000269|PubMed:19285948"; MUTAGEN 306; /note="E->A: Abolishes homodimerization and RNA binding; when associated with A-310."; /evidence="ECO:0000269|PubMed:18678652"; MUTAGEN 310; /note="V->A: Abolishes homodimerization and RNA binding; when associated with A-306."; /evidence="ECO:0000269|PubMed:18678652
uniprot
proteins
protein_family
EDC3 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16364915
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17533573
uniprot
proteins
pubmed
17923697
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18678652
uniprot
proteins
pubmed
19285948
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25701870
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31422817
uniprot
proteins
pubmed
31439631
uniprot
proteins
sequence_length
508
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:16364915}. Note=Processing bodies (PB).
uniprot
proteins