DDX6
entrez
1656
canonical
uniprot
P26196
canonical
ensembl
ENSG00000110367
resolver
ensp
ENSP00000433704
resolver
ensp
ENSP00000442266
resolver
ensp
ENSP00000478754
resolver
ensp
ENSP00000554979
resolver
ensp
ENSP00000554980
resolver
ensp
ENSP00000554981
resolver
ensp
ENSP00000554982
resolver
ensp
ENSP00000554983
resolver
ensp
ENSP00000554984
resolver
ensp
ENSP00000554985
resolver
ensp
ENSP00000599315
resolver
ensp
ENSP00000599318
resolver
ensp
ENSP00000599324
resolver
ensp
ENSP00000623154
resolver
ensp
ENSP00000623158
resolver
enst
ENST00000526070
resolver
enst
ENST00000534980
resolver
enst
ENST00000620157
resolver
enst
ENST00000884921
resolver
enst
ENST00000884925
resolver
enst
ENST00000884926
resolver
enst
ENST00000929259
resolver
enst
ENST00000953095
resolver
enst
ENST00000953099
resolver
genesymbol
DDX6
resolver
genesymbol_syn
HLR2
resolver
genesymbol_syn
RCK
resolver
hgnc
HGNC:2747
resolver
uniprot
B2R858
resolver
uniprot
Q5D048
resolver
uniprot_entry
B2R858_HUMAN
resolver
uniprot_entry
DDX6_HUMAN
resolver
uniprot_sec
Q5D048
resolver
amino_acid_sequence
MSTARTENPVIMGLSSQNGQLRGPVKPTGGPGGGGTQTQQQMNQLKNTNTINNGTQQQAQSMTTTIKPGDDWKKTLKLPPKDLRIKTSDVTSTKGNEFEDYCLKRELLMGIFEMGWEKPSPIQEESIPIALSGRDILARAKNGTGKSGAYLIPLLERLDLKKDNIQAMVIVPTRELALQVSQICIQVSKHMGGAKVMATTGGTNLRDDIMRLDDTVHVVIATPGRILDLIKKGVAKVDHVQMIVLDEADKLLSQDFVQIMEDIILTLPKNRQILLYSATFPLSVQKFMNSHLQKPYEINLMEELTLKGVTQYYAYVTERQKVHCLNTLFSRLQINQSIIFCNSSQRVELLAKKISQLGYSCFYIHAKMRQEHRNRVFHDFRNGLCRNLVCTDLFTRGIDIQAVNVVINFDFPKLAETYLHRIGRSGRFGHLGLAINLITYDDRFNLKSIEEQLGTEIKPIPSNIDKSLYVAEYHSEPVEDEKP
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653]: An autosomal dominant disorder characterized by intellectual disability, developmental delay, impaired language development, and dysmorphic features including telecanthus, epicanthus, arched eyebrows and low-set ears. Additional features include feeding difficulties, mild cardiac or genitourinary defects, and distal skeletal anomalies. {ECO:0000269|PubMed:31422817}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving DDX6 may be a cause of hematopoietic tumors such as B-cell lymphomas. Translocation t(11;14)(q23;q32).
uniprot
proteins
ec_number
3.6.4.13
uniprot
proteins
function
FUNCTION: Essential for the formation of P-bodies, cytosolic membrane-less ribonucleoprotein granules involved in RNA metabolism through the coordinated storage of mRNAs encoding regulatory functions (PubMed:25995375, PubMed:27342281, PubMed:31422817). Plays a role in P-bodies to coordinate the storage of translationally inactive mRNAs in the cytoplasm and prevent their degradation (PubMed:27342281). In the process of mRNA degradation, plays a role in mRNA decapping (PubMed:16364915). Blocks autophagy in nutrient-rich conditions by repressing the expression of ATG-related genes through degradation of their transcripts (PubMed:26098573). {ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:25995375, ECO:0000269|PubMed:26098573, ECO:0000269|PubMed:27342281, ECO:0000269|PubMed:31422817}.
uniprot
proteins
mass_dalton
54417
uniprot
proteins
mutagenesis
MUTAGEN 247; /note="E->Q: Abolished helicase activity and ability to regulate RNA metabolism."; /evidence="ECO:0000269|PubMed:27342281"; MUTAGEN 320; /note="Q->A: Abolishes interaction with EDC3; when associated with A-323; A-327 and A-331."; /evidence="ECO:0000269|PubMed:19285948"; MUTAGEN 323; /note="H->A: Abolishes interaction with EDC3; when associated with A-320; A-327 and A-331."; /evidence="ECO:0000269|PubMed:19285948"; MUTAGEN 324; /note="C->A: In CL-AA; abolishes interaction with PATL1 and reduces interaction with GIGYF1 and GIGYF2, but has no affect on interaction with EDC3, EIF4ENIF1 and LSM14A; when associated with A-328. In 4xmut; abolishes interaction with EDC3; when associated with A-328, A-349 and A-353."; /evidence="ECO:0000269|PubMed:31439631"; MUTAGEN 327; /note="T->A: Abolishes interaction with EDC3; when associated with A-320; A-323 and A-331."; /evidence="ECO:0000269|PubMed:19285948"; MUTAGEN 328; /note="L->A: In CL-AA; abolishes interaction with PATL1 and reduces interaction with GIGYF1 and GIGYF2, but has no affect on interaction with EDC3, EIF4ENIF1 and LSM14A; when associated with A-324. In 4xmut; abolishes interaction with EDC3; when associated with A-324, A-349 and A-353."; /evidence="ECO:0000269|PubMed:31439631"; MUTAGEN 331; /note="R->A: Abolishes interaction with EDC3; when associated with A-320; A-323 and A-327."; /evidence="ECO:0000269|PubMed:19285948"; MUTAGEN 349; /note="L->A: In LK-AA; abolishes interaction with PATL1 and reduces interaction with GIGYF1, GIGYF2, EDC3, EIF4ENIF1 and LSM14A; when associated with A-353. In 4xmut; abolishes interaction with EDC3; when associated with A-324, A-328 and A-353."; /evidence="ECO:0000269|PubMed:31439631"; MUTAGEN 353; /note="K->A: In LK-AA; abolishes interaction with PATL1 and reduces interaction with GIGYF1, GIGYF2, EDC3, EIF4ENIF1 and LSM14A; when associated with A-349. In 4xmut; abolishes interaction with EDC3; when associated with A-324; A-328 and A-349."; /evidence="ECO:0000269|PubMed:31439631"; MUTAGEN 386; /note="R->E: Abolished ability to regulate RNA metabolism."; /evidence="ECO:0000269|PubMed:27342281
uniprot
proteins
post_translational_modification
PTM: Sumoylated (PubMed:26184334). {ECO:0000269|PubMed:26184334}.
uniprot
proteins
protein_family
DDX6/DHH1 subfamily
uniprot
proteins
protein_family
DEAD box helicase family
uniprot
proteins
pubmed
1394235
uniprot
proteins
pubmed
14684915
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1579499
uniprot
proteins
pubmed
16364915
uniprot
proteins
pubmed
16699599
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
19285948
uniprot
proteins
pubmed
20616046
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22915799
uniprot
proteins
pubmed
23125361
uniprot
proteins
pubmed
23209657
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25995375
uniprot
proteins
pubmed
26027925
uniprot
proteins
pubmed
26098573
uniprot
proteins
pubmed
26184334
uniprot
proteins
pubmed
26489469
uniprot
proteins
pubmed
27342281
uniprot
proteins
pubmed
28216671
uniprot
proteins
pubmed
29510985
uniprot
proteins
pubmed
30258011
uniprot
proteins
pubmed
31422817
uniprot
proteins
pubmed
31439631
uniprot
proteins
pubmed
32354837
uniprot
proteins
sequence_length
483
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:16699599, ECO:0000269|PubMed:20616046, ECO:0000269|PubMed:22915799, ECO:0000269|PubMed:25995375, ECO:0000269|PubMed:26184334, ECO:0000269|PubMed:31422817, ECO:0000269|PubMed:32354837}. Cytoplasm {ECO:0000269|PubMed:26184334, ECO:0000269|PubMed:28216671}. Nucleus {ECO:0000269|PubMed:26184334, ECO:0000269|PubMed:28216671}. Cytoplasm, Cytoplasmic ribonucleoprotein granule {ECO:0000250|UniProtKB:P54823}. Note=Imported in the nucleus via interaction with EIF4ENIF1/4E-T via a piggy-back mechanism (PubMed:28216671). Upon cellular stress, relocalizes to stress granules (PubMed:26184334). {ECO:0000269|PubMed:26184334, ECO:0000269|PubMed:28216671}.
uniprot
proteins