MMS19
MMS19 Homolog, Cytosolic Iron-Sulfur Cluster Assembly Factor
Gene Information Card
| Symbol | MMS19 |
|---|---|
| Full Name | MMS19 Homolog, Cytosolic Iron-Sulfur Cluster Assembly Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.1 |
| NCBI Gene ID | 64210 ncbi.nlm.nih.gov/gene/64210 |
| Ensembl ID | ENSG00000120942 |
| UniProt ID | Q96T76 |
| OMIM ID | 614777 |
| HGNC ID | 24817 |
| Aliases | MMS19L, MET18, hMMS19, MMS19 nucleotide excision repair homolog |
Description
MMS19 encodes a protein that is a component of the cytosolic iron-sulfur cluster assembly (CIA) machinery. It is essential for the maturation of cytosolic and nuclear iron-sulfur (Fe-S) proteins, which are involved in DNA replication, DNA repair (including nucleotide excision repair and homologous recombination), telomere maintenance, and ribosome biogenesis. MMS19 interacts with the transcription factor IIH (TFIIH) complex and is required for efficient transcription and nucleotide excision repair. Loss of MMS19 function leads to impaired Fe-S protein activity, genomic instability, and sensitivity to DNA damaging agents.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| MMS19 deficiency (MIMIP) | Impaired cytosolic iron-sulfur cluster assembly leads to defective DNA repair and transcription, causing a syndrome with microcephaly, intellectual disability, and preaxial polydactyly. | OMIM #620210 |
| Xeroderma pigmentosum (related) | Defective nucleotide excision repair due to MMS19 dysfunction contributes to UV sensitivity and increased skin cancer risk. | PubMed studies |
| Cancer (various) | MMS19 mutations or altered expression may contribute to genomic instability and tumorigenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 9.8 | Medium |
| Lymph node | 8.5 | Medium |
| Brain | 6.2 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| HEK293 | 9.2 | Embryonic kidney cell line |
| K562 | 8.7 | Leukemia cell line |
| HepG2 | 7.4 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1066C>T (p.Arg356*) | Nonsense | Rare | Loss of function; truncation of MMS19 protein |
| c.1522G>A (p.Gly508Arg) | Missense | Rare | Impaired Fe-S cluster assembly activity |
| c.1870_1871del (p.Leu624fs) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that disrupt MMS19 protein function lead to defective cytosolic iron-sulfur cluster assembly, DNA repair deficiency, and genomic instability.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cytosolic iron-sulfur cluster assembly (CIA) pathway
• Nucleotide excision repair (NER) pathway
• Transcription-coupled repair (TCR) pathway
Protein Summary
The MMS19 protein is a 1030-amino acid cytosolic factor that acts as a scaffold in the CIA pathway. It binds to the CIA targeting complex (CIA2A-CIA1) and facilitates the insertion of Fe-S clusters into target apoproteins. MMS19 also interacts with the XPD subunit of TFIIH, linking Fe-S cluster assembly to transcription and DNA repair. Its structure includes a conserved MMS19 domain and regions for protein-protein interactions.
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