UniProt functional annotation for Q96F86



	UniProt functional annotation for Q96F86

UniProt code: Q96F86.

Organism: Homo sapiens (Human).

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

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}.

Subunit: Homodimer (via YjeF N-terminal domain). Forms a complex with DCP1A, DCP2, DDX6 and EDC4/HEDLS, within this complex directly interacts with DCP1A and DDX6 (PubMed:16364915, PubMed:31422817, PubMed:19285948, PubMed:31439631). Interacts with ZFP36. {ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:18678652, ECO:0000269|PubMed:19285948, ECO:0000269|PubMed:31422817, ECO:0000269|PubMed:31439631}.

Subcellular location: Cytoplasm, P-body {ECO:0000269|PubMed:16364915}. Note=Processing bodies (PB).

Tissue specificity: Expressed in theca and granulosa cells in ovary, and in spermatids of the meiotic division part II and apical membrane of Sertoli cells in testis (at protein level). Also expressed in brain and mammary gland. {ECO:0000269|PubMed:17533573}.

Domain: The DFDF domain is unstructured by itself. It assumes a helical fold upon interaction with DDX6. {ECO:0000269|PubMed:19285948}.

Disease: Mental retardation, autosomal recessive 50 (MRT50) [MIM:616460]: A form of mental retardation, 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.

Similarity: Belongs to the EDC3 family. {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:		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}.


Subunit:		Homodimer (via YjeF N-terminal domain). Forms a complex with DCP1A, DCP2, DDX6 and EDC4/HEDLS, within this complex directly interacts with DCP1A and DDX6 (PubMed:16364915, PubMed:31422817, PubMed:19285948, PubMed:31439631). Interacts with ZFP36. {ECO:0000269\|PubMed:16364915, ECO:0000269\|PubMed:18678652, ECO:0000269\|PubMed:19285948, ECO:0000269\|PubMed:31422817, ECO:0000269\|PubMed:31439631}.
Subcellular location:		Cytoplasm, P-body {ECO:0000269\|PubMed:16364915}. Note=Processing bodies (PB).
Tissue specificity:		Expressed in theca and granulosa cells in ovary, and in spermatids of the meiotic division part II and apical membrane of Sertoli cells in testis (at protein level). Also expressed in brain and mammary gland. {ECO:0000269\|PubMed:17533573}.
Domain:		The DFDF domain is unstructured by itself. It assumes a helical fold upon interaction with DDX6. {ECO:0000269\|PubMed:19285948}.
Disease:		Mental retardation, autosomal recessive 50 (MRT50) [MIM:616460]: A form of mental retardation, 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.
Similarity:		Belongs to the EDC3 family. {ECO:0000305}.