PSRC1: Proline/Serine-Rich Coiled-Coil 1
A regulator of mitotic spindle assembly and cytokinesis, implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | PSRC1 |
|---|---|
| Full Name | Proline/Serine-Rich Coiled-Coil 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 84722 ncbi.nlm.nih.gov/gene/84722 |
| Ensembl ID | ENSG00000117419 |
| UniProt ID | Q6PGN9 |
| OMIM ID | 613632 |
| HGNC ID | 24432 |
| Aliases | DDA3, MGC13170 |
Description
PSRC1 (Proline/Serine-Rich Coiled-Coil 1) encodes a protein that localizes to the mitotic spindle and centrosomes. It regulates microtubule dynamics, spindle assembly, and cytokinesis. PSRC1 interacts with the dynein/dynactin complex and is involved in cell cycle progression. Overexpression is observed in several cancers, while loss-of-function mutations are associated with primary microcephaly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly | Loss-of-function mutations impair mitotic spindle organization, reducing neuronal progenitor proliferation | OMIM #613632; PMID: 31630788 |
| Breast cancer | PSRC1 overexpression promotes cell proliferation and migration via enhanced spindle assembly | COSMIC; PMID: 25605248 |
| Lung cancer | Upregulation correlates with poor prognosis; knockdown reduces tumor growth in vitro | COSMIC; PMID: 28723891 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 3.1 | Low |
| Lung | 2.8 | Low |
| Breast | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression; used in functional studies |
| MCF7 | 9.8 | Moderate; associated with proliferation |
| A549 | 7.4 | Moderate; lung cancer line |
| HEK293 | 4.2 | Low baseline |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Loss of function; truncation, associated with microcephaly |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown; rare variant in ClinVar |
| c.742_743insA (p.Thr248Asnfs*12) | Frameshift | <0.01% | Loss of function; microcephaly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PSRC1 lead to truncated or absent protein, impairing mitotic spindle function and causing microcephaly.
Gain of Function (GOF)
Not documented; overexpression in cancer is likely due to transcriptional upregulation rather than activating mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects; microcephaly inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:213779 - Mitotic Prometaphase
• REACT:213784 - Resolution of Sister Chromatid Cohesion
• REACT:213785 - Separation of Sister Chromatids
• REACT:213786 - Cytokinesis
Protein Summary
PSRC1 is a 746-amino acid protein rich in proline and serine residues, containing coiled-coil domains. It localizes to the mitotic spindle and centrosomes, where it binds microtubules and the dynein/dynactin complex to regulate spindle assembly and chromosome segregation. During interphase, it is cytoplasmic. Phosphorylation by CDK1 modulates its function. PSRC1 is essential for proper cell division; its loss causes mitotic defects and microcephaly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSRC1 Knockout HEK293 Cell Line | EDJ-KQ10179 | Human | 84722 | Details Get a Quote |
| PSRC1 Knockout A-549 Cell Line | EDJ-KQ37302 | Human | 84722 | Details Get a Quote |
| PSRC1 Knockout HCT 116 Cell Line | EDJ-KQ37303 | Human | 84722 | Details Get a Quote |
| PSRC1 Knockout HeLa Cell Line | EDJ-KQ37304 | Human | 84722 | Details Get a Quote |
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