UniProt functional annotation for P55795



	UniProt functional annotation for P55795

UniProt code: P55795.

Organism: Homo sapiens (Human).

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

Function: This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG).

Subunit: Interacts with TXNL4/DIM1. {ECO:0000269|PubMed:11054566}.

Subcellular location: Nucleus, nucleoplasm.

Tissue specificity: Expressed ubiquitously.

Disease: Mental retardation, X-linked, syndromic, Bain type (MRXSB) [MIM:300986]: 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. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected. {ECO:0000269|PubMed:27545675}. Note=The disease is caused by variants affecting the gene represented in this entry.

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:		This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG).


Subunit:		Interacts with TXNL4/DIM1. {ECO:0000269\|PubMed:11054566}.
Subcellular location:		Nucleus, nucleoplasm.
Tissue specificity:		Expressed ubiquitously.
Disease:		Mental retardation, X-linked, syndromic, Bain type (MRXSB) [MIM:300986]: 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. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected. {ECO:0000269\|PubMed:27545675}. Note=The disease is caused by variants affecting the gene represented in this entry.