ID:MMS19_HUMAN DESCRIPTION: RecName: Full=MMS19 nucleotide excision repair protein homolog; Short=hMMS19; AltName: Full=MET18 homolog; AltName: Full=MMS19-like protein; 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. SUBUNIT: Component of the CIA complex. Component of the MMXD complex, composed of 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: Nucleus. Cytoplasm, cytoskeleton, spindle. TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in testis. SIMILARITY: Belongs to the MET18/MMS19 family. SIMILARITY: Contains 7 HEAT repeats. SEQUENCE CAUTION: Sequence=AAH80532.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAB55315.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB71223.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAG51657.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAC29239.1; Type=Frameshift; Positions=373, 412; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mms19l/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q96T76
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000160 phosphorelay signal transduction system GO:0006259 DNA metabolic process GO:0006281 DNA repair GO:0006289 nucleotide-excision repair GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006974 cellular response to DNA damage stimulus GO:0007059 chromosome segregation GO:0009725 response to hormone GO:0016226 iron-sulfur cluster assembly GO:0045893 positive regulation of transcription, DNA-templated GO:0097428 protein maturation by iron-sulfur cluster transfer GO:1905168 positive regulation of double-strand break repair via homologous recombination
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
