KHDRBS1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | KHDRBS1 |
| Official Name | KH RNA binding domain containing, signal transduction associated 1 [Source:HGNC Symbol;Acc:HGNC:18116] |
| Ensembl ID | ENSG00000121774 |
| Bio databases IDs | |
| Aliases | KH RNA binding domain containing, signal transduction associated 1, GAP-associated tyrosine phosphoprotein p62, Src-associated in mitosis 68 kDa protein |
| Synonyms | GAPa-p62, KH domain containing, RNA binding, signal transduction associated 1, Khdrbs, KH RNA binding domain containing, signal transduction associated 1, Khsnpdl, LOC100046073, LOC100361306, P62, p62 Gap Associated, p62 Yes, p68, p68sam, SAM68 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KHDRBS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- proline glycine arginine motif
- RGG domain
- transcription regulator
- Qua1 domain
- protein kinase binding
- SH2-domain binding
- protein binding activity, bridging
- YD domain
- nuclear localization sequence
- poly(A) binding protein
- protein domain specific binding
- protein binding
- identical protein binding
- proline rich domain
- SH3-domain binding
- DNA binding
- RNA binding
- poly(U) binding protein
- Arg-Gly dipeptide repeat domain
- binding protein
- STAR domain
- K homology (KH) RNA-binding domain, type I
- Tyrosine-rich domain of Sam68
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Huntington disease
- Alzheimer disease
- Hutchinson-Gilford progeria syndrome
- lung squamous cell carcinoma
- squamous cell lung cancer
- sarcoidosis
- atrial fibrillation
- renal clear cell adenocarcinoma
- renal clear cell cancer
- Down syndrome
role in cell
- migration
- apoptosis
- expression in
- cell death
- quantity
- proliferation
- phosphorylation in
- differentiation
- growth
- activation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- polyribosome fractions
- Cytoplasm
- perinuclear membrane
- perinuclear region
- cellular membrane
- cytosol
- sister chromatids
- nucleoplasm
- nuclear bodies
- synapse
- membrane processes
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KHDRBS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of translational initiation
- spermatogenesis
- regulation of RNA export from nucleus
- mRNA processing
- positive regulation of RNA export from nucleus
- negative regulation of transcription from RNA polymerase II promoter
- regulation of protein stability
- G2/M transition of mitotic cell cycle
- negative regulation of transcription, DNA-dependent
- regulation of alternative nuclear mRNA splicing, via spliceosome
- G1/S transition of mitotic cell cycle
- T cell receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- Grb2-Sos complex
- nucleus
- cytoplasm
- membrane
- cytosol
- macromolecular complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- identical protein binding
- protein domain specific binding
- protein binding
- RNA binding
- signaling adaptor activity
- poly(A) RNA binding
- mRNA binding
- poly(U) RNA binding
- SH3 domain binding
- SH2 domain binding