background:
MMS19 is a 1,030 amino acid nuclear protein containing seven HEAT repeats that belongs to the MET18/MMS19 family. Via its interactions with TFIIH p80 and TFIIH p89 helicases, MMS19 plays a role in nucleotide excision repair (NER) and RNA polymerase II (Pol II) transcription. MMS19 may also function as a transcriptional coactivator of estrogen receptor. While ubiquitously expressed, highest levels of MMS19 have been found in testis. At least five distinct MMS19 protein isoforms exist, which are produced by alternative splicing events. The gene encoding MMS19 maps to human chromosome 10q24.1, and is associated with the risk of pancreatic cancer.
Function:
MMS19 like protein may play a role in nucleotide excision repair (NER) and RNA polymerase II (POL II) transcription by interacting with ERCC2/XPD and ERCC3/XPB helicases, both subunits of NER-transcription factor TFIIH. It may also function as a transcriptional coactivator of estrogen receptor (ER) and may be involved in regulation of ER activity by bridging TFIIH with ER or may facilitate TFIIH-mediated phosphorylation of ER in specific promoters and cell types. It is ubiquitously expressed with higher expression in testis.
Subunit:
Component of the MMXD complex, which includes CIAO1, ERCC2, FAM96B, MMS19 and SLC25A5. Interacts with FAM96B; the interaction is direct. Interacts with ERCC2/XPD; the interaction is direct. Interacts with ERCC3/XPB and NCOA3/RAC3.
Subcellular Location:
Nuclear.
Tissue Specificity:
Ubiquitously expressed with higher expression in testis.
Similarity:
Belongs to the MET18/MMS19 family.
Contains 7 HEAT repeats.
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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