SSRP1
structure specific recognition protein 1
Summary
The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376345094 | 11:57,093,934 | G/C | — | uncertain significance |
| rs142261788 | 11:57,093,937 | C/G | — | uncertain significance |
| rs12270967 | 11:57,093,941 | T/C | — | benign |
| rs191760277 | 11:57,094,308 | G/T | — | uncertain significance |
| rs11602266 | 11:57,094,509 | G/A | upstream gene variant | — |
| rs2495168383 | 11:57,095,242 | C/T | — | uncertain significance |
| rs749945399 | 11:57,095,277 | T/A | — | uncertain significance |
| rs2495184891 | 11:57,099,701 | G/A | — | uncertain significance |
| rs368418155 | 11:57,100,260 | G/A | — | uncertain significance |
| rs145791089 | 11:57,100,471 | C/T | — | uncertain significance |
| rs113062066 | 11:57,100,472 | G/A | — | benign |
| rs201778138 | 11:57,100,504 | C/T | — | uncertain significance |
| rs377522214 | 11:57,100,974 | C/T | — | uncertain significance |
| rs1174735311 | 11:57,100,987 | T/C | — | uncertain significance |
| rs7932705 | 11:57,101,000 | G/C | — | benign |
| rs781662202 | 11:57,101,941 | T/A | — | uncertain significance |
| rs1330650150 | 11:57,101,980 | G/A | — | uncertain significance |
| rs775505662 | 11:57,102,032 | T/C | — | uncertain significance |
| rs145267582 | 11:57,102,097 | C/T | — | likely benign |
| rs542006597 | 11:57,102,568 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.