KHSRP: KH-Type Splicing Regulatory Protein
A multifunctional RNA-binding protein involved in gene expression, splicing, and cellular stress responses.
Gene Information Card
| Symbol | KHSRP |
|---|---|
| Full Name | KH-type splicing regulatory protein |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 8570 ncbi.nlm.nih.gov/gene/8570 |
| Ensembl ID | ENSG00000105647 |
| UniProt ID | Q92945 |
| OMIM ID | 603445 |
| HGNC ID | 6316 |
| Aliases | FBP2, FUSE2, KSRP, P75 |
Description
KHSRP (KH-type splicing regulatory protein) encodes a multifunctional RNA-binding protein that regulates gene expression at multiple levels, including pre-mRNA splicing, mRNA stability, and translation. It is involved in cellular stress responses, neuronal development, and immune regulation. The protein contains four KH domains and a C-terminal domain that mediate RNA binding and protein-protein interactions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic lateral sclerosis (ALS) | KHSRP mutations may impair RNA processing and stress granule dynamics, contributing to motor neuron degeneration. | ClinVar, OMIM |
| Frontotemporal dementia (FTD) | Altered KHSRP function linked to TDP-43 pathology and aberrant splicing. | OMIM, PubMed |
| Colorectal cancer | KHSRP overexpression promotes tumor growth by stabilizing oncogenic mRNAs. | COSMIC, PubMed |
| Breast cancer | KHSRP regulates alternative splicing of genes involved in cell proliferation and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 8.3 | Medium |
| Liver | 6.1 | Medium |
| Lung | 7.4 | Medium |
| Kidney | 9.2 | Medium |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | Embryonic kidney cells |
| HeLa | 11.8 | Cervical cancer cells |
| SH-SY5Y | 16.5 | Neuroblastoma cells |
| MCF7 | 9.7 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | Rare | Altered RNA binding affinity |
| c.1567G>A (p.Gly523Ser) | Missense | Rare | Impaired splicing regulation |
| c.789_791del (p.Phe263del) | Deletion | Rare | Loss of KH domain function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt KH domains or RNA binding lead to loss of splicing and mRNA stability regulation.
Gain of Function (GOF)
Overexpression in cancers suggests potential gain-of-function in stabilizing pro-oncogenic mRNAs.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type KHSRP function in RNA processing complexes.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA splicing |
| • via spliceosome | • regulation of mRNA stability |
| • stress granule assembly | • negative regulation of translation |
| • nucleic acid binding |
Pathways
• mRNA surveillance pathway
• Spliceosome
• Regulation of mRNA stability by AU-rich elements
• Cellular response to stress
Protein Summary
KHSRP is a 75 kDa RNA-binding protein with four KH domains. It shuttles between nucleus and cytoplasm, regulating pre-mRNA splicing, mRNA decay, and translation. It plays key roles in neuronal function, immune responses, and cancer progression. The protein interacts with FUSE, TDP-43, and other RNA-binding proteins to control gene expression post-transcriptionally.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KHSRP Knockout HEK293 Cell Line | EDJ-KQ3369 | Human | 8570 | Details Get a Quote |
| KHSRP Knockout A-549 Cell Line | EDJ-KQ25044 | Human | 8570 | Details Get a Quote |
| KHSRP Knockout HCT 116 Cell Line | EDJ-KQ25045 | Human | 8570 | Details Get a Quote |
| KHSRP Knockout HeLa Cell Line | EDJ-KQ25046 | Human | 8570 | Details Get a Quote |
