MMS19 (MMS19 homolog, cytosolic iron-sulfur assembly component)

2004-04-01  

Identity

HGNC
LOCATION
10q24.1
LOCUSID
ALIAS
CIAO4,MET18,MMS19L,hMMS19
FUSION GENES

Other Information

Locus ID:

NCBI: 64210
MIM: 614777
HGNC: 13824
Ensembl: ENSG00000155229

Variants:

dbSNP: 64210
ClinVar: 64210
TCGA: ENSG00000155229
COSMIC: MMS19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000155229ENST00000327238Q96T76
ENSG00000155229ENST00000355839Q96T76
ENSG00000155229ENST00000370782Q96T76
ENSG00000155229ENST00000415383Q96T76
ENSG00000155229ENST00000422685B0QZ77
ENSG00000155229ENST00000434392H7C1W5
ENSG00000155229ENST00000434538H0Y746
ENSG00000155229ENST00000437002Q5T454
ENSG00000155229ENST00000438925Q96T76
ENSG00000155229ENST00000439048F8WCH8
ENSG00000155229ENST00000441194Q96T76
ENSG00000155229ENST00000444411H0Y7V3
ENSG00000155229ENST00000448660H7C0A9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Cytosolic iron-sulfur cluster assemblyREACTOMER-HSA-2564830

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
226783622012MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity.92
226783612012MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism.77
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
207976332010MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation.42
193184332009Nucleotide excision repair pathway polymorphisms and pancreatic cancer risk: evidence for role of MMS19L.29
193184332009Nucleotide excision repair pathway polymorphisms and pancreatic cancer risk: evidence for role of MMS19L.29
231506692012The mammalian proteins MMS19, MIP18, and ANT2 are involved in cytoplasmic iron-sulfur cluster protein assembly.15
167972552006Identification of MMS19 domains with distinct functions in NER and transcription.11
205225372010Variation within DNA repair pathway genes and risk of multiple sclerosis.11
235855632013IOP1 protein is an external component of the human cytosolic iron-sulfur cluster assembly (CIA) machinery and functions in the MMS19 protein-dependent CIA pathway.11

Citation

Dessen P

MMS19 (MMS19 homolog, cytosolic iron-sulfur assembly component)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

Online version: http://atlasgeneticsoncology.org/gene/41410/mms19