SSRP1: Structure-Specific Recognition Protein 1
A key component of the FACT complex involved in chromatin transcription and DNA repair
Gene Information Card
| Symbol | SSRP1 |
|---|---|
| Full Name | Structure Specific Recognition Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 6749 ncbi.nlm.nih.gov/gene/6749 |
| Ensembl ID | ENSG00000149196 |
| UniProt ID | Q08945 |
| OMIM ID | 604328 |
| HGNC ID | 11327 |
| Aliases | FACT80, T160, FACT complex subunit SSRP1 |
Description
SSRP1 encodes a subunit of the FACT (facilitates chromatin transcription) complex, which is involved in chromatin remodeling during transcription elongation, DNA replication, and DNA repair. The protein binds specifically to DNA structures such as cruciform DNA and is essential for cellular proliferation and genome stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | SSRP1 overexpression or mutation may alter chromatin dynamics, promoting oncogenic transcription and genomic instability. | COSMIC; PMID: 25691885 |
| Developmental disorders | Mutations in SSRP1 have been linked to neurodevelopmental phenotypes, possibly due to impaired FACT complex function. | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.2 | High |
| Bone marrow | 25.1 | High |
| Lymph node | 22.8 | High |
| Brain | 12.4 | Medium |
| Liver | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.5 | Cervical cancer cell line |
| K562 | 28.1 | Leukemia cell line |
| HepG2 | 18.9 | Hepatocellular carcinoma cell line |
| A549 | 15.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1522G>A (p.Glu508Lys) | Missense | <0.01% | Unknown; reported in ClinVar |
| Amplification | Copy number gain | Variable | Observed in several cancer types (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare missense variants may reduce FACT complex stability.
Gain of Function (GOF)
Overexpression in cancers may enhance oncogenic transcription.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding (GO:0003682) | • nucleus (GO:0005634) |
| • chromatin remodeling (GO:0006338) | • transcription (GO:0006351) |
| • DNA repair (GO:0006281) |
Pathways
• FACT complex pathway (Reactome: R-HSA-5696398)
• Chromatin modifying enzymes (KEGG: hsa05203)
Protein Summary
SSRP1 is a 709-amino-acid protein that forms the FACT complex with SUPT16H. It contains a HMG-box DNA-binding domain that recognizes distorted DNA structures. The protein is essential for transcription elongation through nucleosomes and participates in DNA damage response pathways.
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