UniProt functional annotation for P26196



	UniProt functional annotation for P26196

UniProt code: P26196.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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}.

Catalytic activity: Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence={ECO:0000305|PubMed:27342281};

Subunit: Interacts with LSM14A, LSM14B, EIF4ENIF1/4E-T, PATL1, EDC3 and EDC4 (PubMed:26027925, PubMed:31422817, PubMed:27342281, PubMed:28216671, PubMed:32354837, PubMed:26489469, PubMed:29510985, PubMed:31439631). Forms a complex with DCP1A, DCP2, EDC3 and EDC4/HEDLS (PubMed:16364915, PubMed:19285948). Interacts with LIMD1, WTIP and AJUBA (PubMed:20616046). Interacts with APOBEC3G in an RNA-dependent manner (PubMed:16699599). Interacts with RC3H1 (By similarity). Interacts with ATXN2L (PubMed:23209657). Interacts with MCRIP1 (PubMed:26184334). Interacts with MCRIP2 (PubMed:26184334). Interacts with NUFIP2 (PubMed:26184334). Interacts with TRIM71 (via NHL repeats) in an RNA-dependent manner (PubMed:23125361). Interacts with GIGYF1 and GIGYF2 (PubMed:31439631). {ECO:0000250|UniProtKB:P54823, ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:16699599, ECO:0000269|PubMed:19285948, ECO:0000269|PubMed:20616046, ECO:0000269|PubMed:23125361, ECO:0000269|PubMed:23209657, ECO:0000269|PubMed:26027925, ECO:0000269|PubMed:26184334, ECO:0000269|PubMed:26489469, ECO:0000269|PubMed:27342281, ECO:0000269|PubMed:28216671, ECO:0000269|PubMed:29510985, ECO:0000269|PubMed:31422817, ECO:0000269|PubMed:31439631, ECO:0000269|PubMed:32354837}.

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}. 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}.

Tissue specificity: Abundantly expressed in most tissues.

Ptm: Sumoylated (PubMed:26184334). {ECO:0000269|PubMed:26184334}.

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).

Similarity: Belongs to the DEAD box helicase family. DDX6/DHH1 subfamily. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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}.


Catalytic activity:		Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence={ECO:0000305\|PubMed:27342281};
Subunit:		Interacts with LSM14A, LSM14B, EIF4ENIF1/4E-T, PATL1, EDC3 and EDC4 (PubMed:26027925, PubMed:31422817, PubMed:27342281, PubMed:28216671, PubMed:32354837, PubMed:26489469, PubMed:29510985, PubMed:31439631). Forms a complex with DCP1A, DCP2, EDC3 and EDC4/HEDLS (PubMed:16364915, PubMed:19285948). Interacts with LIMD1, WTIP and AJUBA (PubMed:20616046). Interacts with APOBEC3G in an RNA-dependent manner (PubMed:16699599). Interacts with RC3H1 (By similarity). Interacts with ATXN2L (PubMed:23209657). Interacts with MCRIP1 (PubMed:26184334). Interacts with MCRIP2 (PubMed:26184334). Interacts with NUFIP2 (PubMed:26184334). Interacts with TRIM71 (via NHL repeats) in an RNA-dependent manner (PubMed:23125361). Interacts with GIGYF1 and GIGYF2 (PubMed:31439631). {ECO:0000250\|UniProtKB:P54823, ECO:0000269\|PubMed:16364915, ECO:0000269\|PubMed:16699599, ECO:0000269\|PubMed:19285948, ECO:0000269\|PubMed:20616046, ECO:0000269\|PubMed:23125361, ECO:0000269\|PubMed:23209657, ECO:0000269\|PubMed:26027925, ECO:0000269\|PubMed:26184334, ECO:0000269\|PubMed:26489469, ECO:0000269\|PubMed:27342281, ECO:0000269\|PubMed:28216671, ECO:0000269\|PubMed:29510985, ECO:0000269\|PubMed:31422817, ECO:0000269\|PubMed:31439631, ECO:0000269\|PubMed:32354837}.
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}. 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}.
Tissue specificity:		Abundantly expressed in most tissues.
Ptm:		Sumoylated (PubMed:26184334). {ECO:0000269\|PubMed:26184334}.
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).
Similarity:		Belongs to the DEAD box helicase family. DDX6/DHH1 subfamily. {ECO:0000305}.