ABRACL Gene - Costars Family Member ABRACL
ABRACL (ABRA C-Terminal Like) is a protein-coding gene involved in cytoskeletal regulation and cell migration.
Gene Information Card
| Symbol | ABRACL |
|---|---|
| Full Name | ABRA C-Terminal Like |
| Gene Type | protein-coding |
| Chromosomal Location | 6q24.1 |
| NCBI Gene ID | 58527 ncbi.nlm.nih.gov/gene/58527 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q9H0U4 |
| OMIM ID | 614553 |
| HGNC ID | 28738 |
| Aliases | C6orf115, FLJ10305, MGC13125 |
Description
ABRACL (ABRA C-Terminal Like) is a member of the costars family of proteins. It is involved in actin cytoskeleton dynamics and cell migration. The gene is located on chromosome 6q24.1 and encodes a 134-amino acid protein. ABRACL is broadly expressed in various tissues and has been implicated in cancer progression and other cellular processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell migration and invasion via actin remodeling | PMID: 30967563 |
| Colorectal cancer | Upregulation associated with poor prognosis and metastasis | PMID: 31578321 |
| Lung adenocarcinoma | High expression correlates with tumor stage and survival | PMID: 32689482 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.3 | Medium |
| Brain | 8.7 | Low |
| Breast | 15.2 | Medium |
| Colon | 18.9 | Medium |
| Heart | 6.4 | Low |
| Kidney | 14.1 | Medium |
| Liver | 9.8 | Low |
| Lung | 16.5 | Medium |
| Ovary | 11.0 | Medium |
| Prostate | 13.4 | Medium |
| Skin | 10.2 | Low |
| Testis | 22.7 | High |
| Thyroid | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 19.5 | Cervical cancer cell line |
| MCF7 | 21.3 | Breast cancer cell line |
| A549 | 17.8 | Lung cancer cell line |
| HCT116 | 23.1 | Colorectal cancer cell line |
| HEK293 | 14.6 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107C>T (p.Pro36Leu) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.202G>A (p.Glu68Lys) | Missense | 0.005% (gnomAD) | Unknown functional impact |
| c.334_336del (p.Lys112del) | In-frame deletion | Rare | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • cell migration |
| • protein binding | • cytoplasm |
| • cytoskeleton |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
ABRACL is a small protein (134 amino acids) belonging to the costars family. It localizes to the cytoplasm and interacts with actin filaments, modulating cytoskeletal dynamics. The protein is involved in cell migration, adhesion, and proliferation. Overexpression in several cancers suggests a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABRACL Knockout HEK293 Cell Line | EDJ-KQ12253 | Human | 58527 | Details Get a Quote |
| ABRACL Knockout A-549 Cell Line | EDJ-KQ41036 | Human | 58527 | Details Get a Quote |
| ABRACL Knockout HCT 116 Cell Line | EDJ-KQ41037 | Human | 58527 | Details Get a Quote |
| ABRACL Knockout HeLa Cell Line | EDJ-KQ41038 | Human | 58527 | Details Get a Quote |
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