LASP1 Gene (LIM and SH3 Protein 1)

Actin-binding scaffold protein involved in cell migration, proliferation, and cancer progression

Gene Information Card

Symbol LASP1
Full Name LIM and SH3 protein 1
Gene Type protein-coding
Chromosomal Location 17q12
NCBI Gene ID 3927 ncbi.nlm.nih.gov/gene/3927
Ensembl ID ENSG00000002834
UniProt ID Q14847
OMIM ID 602920
HGNC ID 6513
Aliases MLN50, LASP-1

Description

LASP1 (LIM and SH3 protein 1) is a gene encoding a 261-amino acid actin-binding scaffold protein. It contains an N-terminal LIM domain and a C-terminal SH3 domain, enabling interactions with cytoskeletal components and signaling molecules. LASP1 is involved in cell migration, proliferation, and survival, and is overexpressed in multiple cancers, including breast, colorectal, and ovarian carcinomas. Its expression is regulated by transcription factors such as ETS1 and MYC.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer Overexpression promotes cell migration and invasion via actin cytoskeleton remodeling and focal adhesion turnover. PMID: 21573173; COSMIC overexpression data
Colorectal cancer Upregulation correlates with lymph node metastasis and poor prognosis; LASP1 enhances Wnt/β-catenin signaling. PMID: 24986688; ClinVar somatic variants
Ovarian cancer Increased expression associated with tumor progression and chemoresistance through PI3K/AKT pathway activation. PMID: 25964277; COSMIC mutation frequency
Hepatocellular carcinoma LASP1 knockdown reduces proliferation and invasion; acts via FAK/Src signaling. PMID: 27667693
Gastric cancer High expression linked to advanced stage and shorter survival; promotes epithelial-mesenchymal transition. PMID: 28289123

Expression Profile

Tissue Expression
Tissue nTPM level
Breast 12.5 nTPM Medium
Colon 10.2 nTPM Medium
Ovary 8.9 nTPM Low
Liver 6.7 nTPM Low
Stomach 9.1 nTPM Low
Lung 7.4 nTPM Low
Kidney 5.3 nTPM Not detected
Cell Line Expression
Cell Line nTPM Notes
MCF7 (breast cancer) 15.8 nTPM High expression; promotes migration
HCT116 (colorectal cancer) 13.2 nTPM High expression; linked to metastasis
SKOV3 (ovarian cancer) 11.5 nTPM Moderate expression; chemoresistance
HepG2 (hepatocellular carcinoma) 9.7 nTPM Moderate expression; invasion
A549 (lung cancer) 6.4 nTPM Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.487C>T (p.Arg163Trp) Missense <0.1% in COSMIC Unknown; predicted to affect SH3 domain binding
c.124G>A (p.Glu42Lys) Missense <0.1% in COSMIC Unknown; located in LIM domain
c.1-?_*?del Frameshift/deletion Rare in ClinVar Loss of function; not associated with disease
Mutation functional classification

Loss of Function (LOF)

No established loss-of-function mutations; rare deletions may reduce protein expression but no disease phenotype reported.

Gain of Function (GOF)

Overexpression (not mutation) is the primary gain-of-function mechanism in cancer; no activating mutations described.

Dominant Negative (DN)

No dominant-negative mutations reported.

Pathways

• Focal adhesion (KEGG: hsa04510)
• Actin cytoskeleton regulation (KEGG: hsa04810)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Wnt signaling pathway (KEGG: hsa04310)

Protein Summary

LASP1 is a 30 kDa scaffold protein with a LIM domain (residues 2-60) and an SH3 domain (residues 200-261). It localizes to focal adhesions, lamellipodia, and the nucleus. Through its LIM domain, it binds to zyxin and other focal adhesion proteins; the SH3 domain interacts with kinases such as Src and FAK. LASP1 regulates actin dynamics, cell adhesion, and signal transduction. Overexpression in cancers correlates with metastasis and poor prognosis.

Related Products

Product name Cat.No. Species Gene ID
LASP1 Knockout HEK293 Cell Line EDJ-KQ4331 Human 3927 Details Get a Quote
LASP1NB Knockout HEK293 Cell Line EDJ-KQ14028 Human 100505576 Details Get a Quote
LASP1 Knockout A-549 Cell Line EDJ-KQ28059 Human 3927 Details Get a Quote
LASP1 Knockout HCT 116 Cell Line EDJ-KQ28060 Human 3927 Details Get a Quote
LASP1 Knockout HeLa Cell Line EDJ-KQ28061 Human 3927 Details Get a Quote
LASP1NB Knockout A-549 Cell Line EDJ-KQ43942 Human 100505576 Details Get a Quote
LASP1NB Knockout HCT 116 Cell Line EDJ-KQ43943 Human 100505576 Details Get a Quote
LASP1NB Knockout HeLa Cell Line EDJ-KQ43944 Human 100505576 Details Get a Quote
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