CLASP1
Cytoplasmic Linker Associated Protein 1
Gene Information Card
| Symbol | CLASP1 |
|---|---|
| Full Name | Cytoplasmic Linker Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q14.3 |
| NCBI Gene ID | 23332 ncbi.nlm.nih.gov/gene/23332 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q7Z460 |
| OMIM ID | 605852 |
| HGNC ID | 20913 |
| Aliases | MAST, CLIP-associating protein 1, pp125 |
Description
CLASP1 encodes a member of the CLASP family of microtubule-associated proteins. The protein localizes to the distal ends of microtubules and regulates microtubule dynamics, including stabilization and capture at the cell cortex. It is involved in cell migration, mitosis, and intracellular transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | CLASP1 overexpression or mutation may alter microtubule stability, promoting cell proliferation and migration. | COSMIC; literature |
| Neurodevelopmental disorders | Rare variants in CLASP1 have been associated with intellectual disability and autism spectrum disorder. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | High expression |
| HEK293 | 11.5 | Medium expression |
| A549 | 9.8 | Medium expression |
| MCF7 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown functional impact |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
Not well documented; some missense variants may alter microtubule binding affinity.
Dominant Negative (DN)
Not reported for CLASP1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Microtubule dynamics (Reactome: R-HSA-380284)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
• Regulation of microtubule cytoskeleton (KEGG: hsa04530)
Protein Summary
CLASP1 is a 1,538-amino acid protein that binds microtubules and promotes their stabilization. It contains HEAT repeats and a C-terminal domain that mediates interaction with CLIPs and other microtubule-associated proteins. CLASP1 is essential for mitotic spindle assembly and cell polarity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLASP1 Knockout HEK293 Cell Line | EDJ-KQ12929 | Human | 23332 | Details Get a Quote |
| CLASP1 Knockout A-549 Cell Line | EDJ-KQ42146 | Human | 23332 | Details Get a Quote |
| CLASP1 Knockout HCT 116 Cell Line | EDJ-KQ42147 | Human | 23332 | Details Get a Quote |
| CLASP1 Knockout HeLa Cell Line | EDJ-KQ42148 | Human | 23332 | Details Get a Quote |
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