SSBP3: Single-Stranded DNA Binding Protein 3
A versatile transcription regulator involved in development and disease
Gene Information Card
| Symbol | SSBP3 |
|---|---|
| Full Name | Single-stranded DNA binding protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 23648 ncbi.nlm.nih.gov/gene/23648 |
| Ensembl ID | ENSG00000116285 |
| UniProt ID | Q9BWG4 |
| OMIM ID | 607237 |
| HGNC ID | 11325 |
| Aliases | SSDP1, CSDP, SSBP, SSDP, SSBP3A, SSBP3B |
Description
SSBP3 (Single-stranded DNA binding protein 3) encodes a member of the single-stranded DNA-binding protein family. The protein functions as a transcription regulator, often forming complexes with other factors to modulate gene expression. It is involved in developmental processes, including craniofacial and skeletal development, and has been implicated in various cancers and genetic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental disorders (e.g., craniofacial abnormalities) | SSBP3 haploinsufficiency or loss-of-function mutations disrupt transcriptional regulation during embryogenesis | ClinVar, OMIM |
| Colorectal cancer | Altered SSBP3 expression may affect Wnt/β-catenin signaling and cell proliferation | COSMIC, NCBI |
| Breast cancer | SSBP3 overexpression or mutation linked to tumor progression and poor prognosis | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 8.5 | Low |
| Kidney | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Cervical cancer cell line |
| HEK293 | 11.6 | Embryonic kidney cells |
| MCF7 | 16.2 | Breast cancer cell line |
| HCT116 | 13.9 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34*) | Nonsense | Rare | Premature stop, loss of function |
| c.200_201insA | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that reduce SSBP3 protein levels or activity, associated with developmental disorders.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may suggest oncogenic gain-of-function, but specific activating mutations are not characterized.
Dominant Negative (DN)
Not reported for SSBP3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Transcriptional regulation by RUNX1 (Reactome: R-HSA-8878171)
Protein Summary
SSBP3 is a 410-amino acid protein containing a single-stranded DNA-binding domain. It localizes to the nucleus and interacts with transcription factors such as RUNX1 and LEF1 to regulate gene expression. The protein is ubiquitously expressed with highest levels in testis and brain. Post-translational modifications include phosphorylation, which may modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SSBP3 Knockout HEK293 Cell Line | EDJ-KQ51125 | Human | 23648 | Details Get a Quote |
| SSBP3 Knockout HeLa Cell Line | EDJ-KQ55791 | Human | 23648 | Details Get a Quote |
| SSBP3 Knockout A-549 Cell Line | EDJ-KQ64287 | Human | 23648 | Details Get a Quote |
| SSBP3 Knockout HCT 116 Cell Line | EDJ-KQ72734 | Human | 23648 | Details Get a Quote |
