MMS19_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)

Gene names: MMS19 , MMS19L
Protein names and data: MMS19_HUMAN , MMS19 nucleotide excision repair protein homolog; hMMS19 , MET18 homolog; MMS19-like protein Lenght: 1030 a.a.
Mass: 113290 Da
fasta formatted sequence

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.
Cellular location: Nucleus. Cytoplasm, cytoskeleton, spindle.
Tissue specificity: Ubiquitously expressed with higher expression in testis.

Genetic variants

Database cross-references

UniProt: Q96T76
Ensembl: ENST00000327238
Ensembl: ENST00000327277
Ensembl: ENST00000355839
Ensembl: ENST00000370782
Ensembl: ENST00000415383
Ensembl: ENST00000438925
Ensembl: ENST00000441194
MIM: 614777
neXtProt: NX_Q96T76
Antibodypedia: Q96T76 (may not find the protein thus also not any antibody)
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