| Gene Symbol |
MMS19
|
| Entrez Gene |
64210
|
| Alt Symbol |
MET18, MMS19L, hMMS19
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
MMS19 nucleotide excision repair homolog (S. cerevisiae)
|
| Other Description |
MET18 homolog|MMS19 nucleotide excision repair protein homolog|MMS19-like (MET18 homolog, S. cerevisiae)|MMS19-like protein|homolog of yeast MMS19
|
| Swissprots |
Q9BYS9 Q9BUE2 Q96SK1 Q17RZ8 Q96T76 B4E2I3 Q96MR1 Q969Z1 B4DQX2 Q96RK5 D3DR55 F8W9Y2 Q96DF1 B3KPE5 Q66K82 B0QZ75 Q7L4W8 Q5T455
|
| Accessions |
AAX59033 EAW49921 EAW49922 EAW49923 EAW49924 EAW49925 EAW49926 EAW49927 EAW49928 Q96T76 AF007151 AAC19154 AF319947 AAK52668 AF357881 AAK70402 AJ306408 CAC29239 AK025496 AK027710 BAB55315 AK056244 BAG51657 AK056581 BAB71223 AK225312 AK298995 BAG61084 AK304287 BAG65145 AK314374 BC002692 AAH02692 BC006575 AAH06575 BC007298 BC009396 AAH09396 BC033101 BC080532 AAH80532 BC117129 AAI17130 BC143285 BU942293 DC382324 DC382327 DC403135 DC410036 XM_005270035 XP_005270092 XM_005270041 XP_005270098 XM_006717944 XP_006718007 XM_006717945 XP_006718008 XM_011540062 XP_011538364 XM_011540063 XP_011538365 XR_428713 NM_001289403 NP_001276332 NM_001289404 NP_001276333 NM_001289405 NP_001276334 NM_022362 NP_071757
|
| Function |
Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic integrity. In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular target iron-sulfur proteins such as ERCC2/XPD, FANCJ and RTEL1, thereby playing a key role in nucleotide excision repair (NER) and RNA polymerase II (POL II) transcription. As part of the mitotic spindle-associated MMXD complex, plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD. Indirectly acts as a transcriptional coactivator of estrogen receptor (ER), via its role in iron-sulfur insertion into some component of the TFIIH-machinery. {ECO:0000269|PubMed:11071939, ECO:0000269|PubMed:11328871, ECO:0000269|PubMed:20797633, ECO:0000269|PubMed:22678361, ECO:0000269|PubMed:22678362}.
|
| Subcellular Location |
Nucleus. Cytoplasm, cytoskeleton, spindle.
|
| Tissue Specificity |
Ubiquitously expressed with higher expression in testis. {ECO:0000269|PubMed:11071939, ECO:0000269|PubMed:11328871}.
|
