Aliases for KHDRBS1 Gene
External Ids for KHDRBS1 Gene
Previous GeneCards Identifiers for KHDRBS1 Gene
This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
GeneCards Summary for KHDRBS1 Gene
KHDRBS1 (KH Domain Containing, RNA Binding, Signal Transduction Associated 1) is a Protein Coding gene. Diseases associated with KHDRBS1 include mental retardation, autosomal dominant 18 and spinal muscular atrophy. Among its related pathways are Translational Control and Prolactin Signaling Pathway. GO annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is QKI.
UniProtKB/Swiss-Prot for KHDRBS1 Gene
Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediates mRNA nuclear export. Positively regulates the association of constitutive transport element (CTE)-containing mRNA with large polyribosomes and translation initiation. According to some authors, is not involved in the nucleocytoplasmic export of unspliced (CTE)-containing RNA species according to (PubMed:22253824).
Isoform 3, which is expressed in growth-arrested cells only, inhibits S phase.