DLGAP5 Gene
DLGAP5 (Discs Large-Associated Protein 5) is a protein-coding gene involved in cell cycle regulation and mitosis.
Gene Information Card
| Symbol | DLGAP5 |
|---|---|
| Full Name | Discs Large-Associated Protein 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 14q22.3 |
| NCBI Gene ID | 9787 ncbi.nlm.nih.gov/gene/9787 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q15398 |
| OMIM ID | 605745 |
| HGNC ID | 2903 |
| Aliases | KIAA0008, HURP |
Description
DLGAP5 (Discs Large-Associated Protein 5), also known as HURP (Hepatoma Upregulated Protein), is a protein-coding gene located on chromosome 14q22.3. It encodes a protein that plays a critical role in cell cycle progression, particularly during mitosis, by regulating microtubule dynamics and spindle assembly. DLGAP5 is highly expressed in proliferating cells and is frequently upregulated in various cancers, contributing to tumor growth and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of DLGAP5 promotes cell proliferation and migration via mitotic spindle regulation | High expression in tumor tissues; associated with poor prognosis (COSMIC, NCBI) |
| Breast cancer | DLGAP5 upregulation correlates with increased tumor grade and metastasis | Gene expression profiling studies (NCBI, ClinVar) |
| Lung cancer | DLGAP5 amplification and overexpression linked to cell cycle dysregulation | COSMIC mutation data; expression analysis |
| Colorectal cancer | DLGAP5 promotes chromosomal instability and tumor progression | Functional studies (NCBI, OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Bone marrow | 38.7 | High |
| Lymph node | 30.1 | High |
| Liver | 12.5 | Medium |
| Breast | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 62.4 | Cervical cancer cell line; high expression |
| MCF7 | 55.8 | Breast cancer cell line; high expression |
| A549 | 48.2 | Lung cancer cell line; high expression |
| HEK293 | 22.1 | Embryonic kidney; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% (COSMIC) | Unknown functional effect |
| c.567_568insA (p.Glu190fs) | Frameshift | 0.01% (COSMIC) | Loss of function predicted |
| c.890G>A (p.Arg297Gln) | Missense | 0.03% (ClinVar) | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu190fs) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg412Cys) may alter protein stability or interactions, potentially leading to gain of function in cancer contexts.
Dominant Negative (DN)
No dominant-negative mutations currently reported in DLGAP5.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • spindle assembly |
| • cell cycle | • mitotic spindle organization |
| • protein binding |
Pathways
• Cell Cycle
• Mitotic
• Microtubule-dependent transport
• Kinesin-mediated transport
Protein Summary
The DLGAP5 protein (UniProt Q15398) is a 846-amino acid protein that localizes to the mitotic spindle and centrosomes. It interacts with kinesin-like proteins and microtubules to facilitate proper chromosome segregation during mitosis. Overexpression in cancer cells leads to aberrant spindle formation and aneuploidy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLGAP5 Knockout HEK293 Cell Line | EDJ-KQ1136 | Human | 9787 | Details Get a Quote |
| DLGAP5 Knockout A-549 Cell Line | EDJ-KQ20348 | Human | 9787 | Details Get a Quote |
| DLGAP5 Knockout HCT 116 Cell Line | EDJ-KQ20349 | Human | 9787 | Details Get a Quote |
| DLGAP5 Knockout HeLa Cell Line | EDJ-KQ20350 | Human | 9787 | Details Get a Quote |
