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Aliases for MMS19 Gene

Aliases for MMS19 Gene

  • MMS19 Homolog, Cytosolic Iron-Sulfur Assembly Component 2 3 5
  • MMS19-Like Protein 3 4
  • MET18 Homolog 3 4
  • MMS19L 3 4
  • HMMS19 3 4
  • MMS19 Nucleotide Excision Repair Homolog (S. Cerevisiae) 2
  • MMS19 Nucleotide Excision Repair Protein Homolog 3
  • MMS19 Cytosolic Iron-Sulfur Assembly Component 3
  • MMS19-Like (MET18 Homolog, S. Cerevisiae) 3
  • MMS19 Nucleotide Excision Repair Homolog 3
  • MET18 Homolog (S. Cerevisiae) 2
  • Homolog Of Yeast MMS19 3
  • MET18 3

External Ids for MMS19 Gene

Previous HGNC Symbols for MMS19 Gene

  • MMS19L

Previous GeneCards Identifiers for MMS19 Gene

  • GC10M099209
  • GC10M092843
  • GC10M099218

Summaries for MMS19 Gene

GeneCards Summary for MMS19 Gene

MMS19 (MMS19 Homolog, Cytosolic Iron-Sulfur Assembly Component) is a Protein Coding gene. Among its related pathways are Metabolism and Cytosolic iron-sulfur cluster assembly. GO annotations related to this gene include binding and protein binding, bridging.

UniProtKB/Swiss-Prot for MMS19 Gene

  • 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.

Gene Wiki entry for MMS19 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMS19 Gene

Genomics for MMS19 Gene

Regulatory Elements for MMS19 Gene

Enhancers for MMS19 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F097521 0.2 ENCODE 12.5 -22.4 -22395 0.2 IKZF1 MMS19 UBTD1 ANKRD2 ENSG00000249967 HOGA1 C10orf62 PI4K2A GC10P097530 GC10P097506
GH10F097524 0.2 Ensembl 12.3 -26.1 -26108 0.2 MMS19 UBTD1 ANKRD2 ENSG00000249967 HOGA1 C10orf62 PI4K2A GC10P097530 GC10P097506
GH10F097553 1 Ensembl ENCODE 12 -54.9 -54897 1.1 ELF3 CTCF SAP130 MAX ARID4B RAD21 TEAD3 ZNF143 SMC3 NR2F6 PI4K2A UBTD1 MMS19 ENSG00000249967 HOGA1 C10orf62 PGAM1 ANKRD2 GC10P097540
GH10F097534 1.1 Ensembl ENCODE 11.9 -36.2 -36207 0.4 ZNF263 CTCF ZNF654 REST RAD21 ZNF121 ZFHX2 SMC3 EGR2 HOGA1 UBTD1 MMS19 ENSG00000249967 C10orf62 PI4K2A GC10P097530 GC10P097540
GH10F097454 0.6 ENCODE 11.9 +43.9 43856 0.2 ZNF263 NFIA PGAM1 ENSG00000200737 UBTD1 MMS19 SLIT1 ZDHHC16
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MMS19 on UCSC Golden Path with GeneCards custom track

Promoters for MMS19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000360007 94 3001 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143

Genomic Location for MMS19 Gene

Chromosome:
10
Start:
97,458,324 bp from pter
End:
97,498,794 bp from pter
Size:
40,471 bases
Orientation:
Minus strand

Genomic View for MMS19 Gene

Genes around MMS19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMS19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMS19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMS19 Gene

Proteins for MMS19 Gene

  • Protein details for MMS19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T76-MMS19_HUMAN
    Recommended name:
    MMS19 nucleotide excision repair protein homolog
    Protein Accession:
    Q96T76
    Secondary Accessions:
    • B0QZ75
    • B3KPE5
    • B4DQX2
    • B4E2I3
    • D3DR55
    • F8W9Y2
    • Q17RZ8
    • Q5T455
    • Q66K82
    • Q7L4W8
    • Q969Z1
    • Q96DF1
    • Q96MR1
    • Q96RK5
    • Q96SK1
    • Q9BUE2
    • Q9BYS9

    Protein attributes for MMS19 Gene

    Size:
    1030 amino acids
    Molecular mass:
    113290 Da
    Quaternary structure:
    • 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. Interacts with RTEL1; the interaction mediates the association of RTEL1 with the CIA complex.
    SequenceCaution:
    • Sequence=AAH80532.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAB55315.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB71223.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAG51657.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC29239.1; Type=Frameshift; Positions=373, 412; Evidence={ECO:0000305};

    Alternative splice isoforms for MMS19 Gene

neXtProt entry for MMS19 Gene

Post-translational modifications for MMS19 Gene

  • Ubiquitination at Lys 373
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MMS19 Gene

Domains & Families for MMS19 Gene

Protein Domains for MMS19 Gene

Graphical View of Domain Structure for InterPro Entry

Q96T76

UniProtKB/Swiss-Prot:

MMS19_HUMAN :
  • Belongs to the MET18/MMS19 family.
  • Contains 7 HEAT repeats.
Family:
  • Belongs to the MET18/MMS19 family.
Similarity:
  • Contains 7 HEAT repeats.
genes like me logo Genes that share domains with MMS19: view

Function for MMS19 Gene

Molecular function for MMS19 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for MMS19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IMP 11279242
GO:0005515 protein binding IPI 11279242
GO:0019899 enzyme binding IEA --
GO:0030159 receptor signaling complex scaffold activity NAS 11279242
GO:0030331 estrogen receptor binding IPI 11279242
genes like me logo Genes that share ontologies with MMS19: view
genes like me logo Genes that share phenotypes with MMS19: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MMS19 Gene

Localization for MMS19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMS19 Gene

Nucleus. Cytoplasm, cytoskeleton, spindle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MMS19 Gene COMPARTMENTS Subcellular localization image for MMS19 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 5
plasma membrane 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MMS19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 11071939
GO:0005654 nucleoplasm IDA --
GO:0005675 holo TFIIH complex NAS 11279242
GO:0005737 cytoplasm IEA,IDA 20797633
GO:0005819 spindle IEA,IDA 20797633
genes like me logo Genes that share ontologies with MMS19: view

Pathways & Interactions for MMS19 Gene

genes like me logo Genes that share pathways with MMS19: view

Pathways by source for MMS19 Gene

1 Cell Signaling Technology pathway for MMS19 Gene
2 Reactome pathways for MMS19 Gene

Gene Ontology (GO) - Biological Process for MMS19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000160 phosphorelay signal transduction system NAS 11279242
GO:0006259 DNA metabolic process IMP 22678361
GO:0006281 DNA repair IMP 22678362
GO:0006289 nucleotide-excision repair TAS 11071939
GO:0006351 transcription, DNA-templated NAS 11071939
genes like me logo Genes that share ontologies with MMS19: view

No data available for SIGNOR curated interactions for MMS19 Gene

Transcripts for MMS19 Gene

Unigene Clusters for MMS19 Gene

MMS19 nucleotide excision repair homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MMS19 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e ^ 8a · 8b · 8c · 8d · 8e · 8f ^ 9a ·
SP1: - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - -
SP5:
SP6:
SP7: - - - - - - - - - - - -
SP8: - - - - - - -
SP9: - - - - - - - -
SP10: - - - - - - -
SP11:
SP12: - - - - -
SP13:
SP14: - - - - -
SP15: - - - - - - - -
SP16:
SP17: - - - - -
SP18: - - - - - - - - - -
SP19: - - -
SP20:
SP21: -
SP22:
SP23:

ExUns: 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - -
SP6: -
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:

ExUns: 30a · 30b · 30c ^ 31 ^ 32a · 32b · 32c ^ 33 ^ 34a · 34b ^ 35a · 35b
SP1:
SP2:
SP3:
SP4: - - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: - - -
SP21:
SP22:
SP23:

Relevant External Links for MMS19 Gene

GeneLoc Exon Structure for
MMS19
ECgene alternative splicing isoforms for
MMS19

Expression for MMS19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MMS19 Gene

Protein differential expression in normal tissues from HIPED for MMS19 Gene

This gene is overexpressed in Bone (53.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MMS19 Gene



Protein tissue co-expression partners for MMS19 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MMS19 Gene:

MMS19

SOURCE GeneReport for Unigene cluster for MMS19 Gene:

Hs.500721

mRNA Expression by UniProt/SwissProt for MMS19 Gene:

Q96T76-MMS19_HUMAN
Tissue specificity: Ubiquitously expressed with higher expression in testis.
genes like me logo Genes that share expression patterns with MMS19: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MMS19 Gene

Orthologs for MMS19 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MMS19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MMS19 34 35
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia MMS19 34 35
  • 91.9 (n)
cow
(Bos Taurus)
Mammalia MMS19 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mms19 34 16 35
  • 86.98 (n)
rat
(Rattus norvegicus)
Mammalia Mms19l 34
  • 86.59 (n)
oppossum
(Monodelphis domestica)
Mammalia MMS19 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MMS19 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMS19 34 35
  • 72.95 (n)
lizard
(Anolis carolinensis)
Reptilia MMS19 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mms19 34
  • 65.12 (n)
Str.13543 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15499 34
zebrafish
(Danio rerio)
Actinopterygii mms19 34 35
  • 58.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mms19 35
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mms-19 35
  • 22 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET18 34 35 37
  • 39.73 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER377C 34
  • 39.37 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04565g 34
  • 39.28 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mms19 34
  • 39.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToOne
Species where no ortholog for MMS19 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MMS19 Gene

ENSEMBL:
Gene Tree for MMS19 (if available)
TreeFam:
Gene Tree for MMS19 (if available)

Paralogs for MMS19 Gene

No data available for Paralogs for MMS19 Gene

Variants for MMS19 Gene

Sequence variations from dbSNP and Humsavar for MMS19 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10590709 -- 97,475,212(+) GAGAA(-/GT)GTGTG intron-variant
rs10682395 -- 97,487,336(+) TTTTT(-/TT)GAGAC intron-variant
rs10786350 -- 97,468,026(+) GCCCA(A/G)GCTGA intron-variant
rs10786351 -- 97,486,799(+) TAATC(A/G)CCATA intron-variant
rs10882940 -- 97,465,246(+) CCACC(C/T)GCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MMS19 Gene

Variant ID Type Subtype PubMed ID
nsv1110852 OTHER inversion 24896259
nsv472042 CNV novel sequence insertion 20440878
nsv948159 CNV duplication 23825009

Variation tolerance for MMS19 Gene

Residual Variation Intolerance Score: 33.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.50; 91.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MMS19 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMS19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMS19 Gene

Disorders for MMS19 Gene

Relevant External Links for MMS19

Genetic Association Database (GAD)
MMS19
Human Genome Epidemiology (HuGE) Navigator
MMS19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MMS19

No disorders were found for MMS19 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MMS19 Gene

Publications for MMS19 Gene

  1. Cloning of a human homolog of the yeast nucleotide excision repair gene MMS19 and interaction with transcription repair factor TFIIH via the XPB and XPD helicases. (PMID: 11071939) Seroz T. … Hoeijmakers J.H.J. (Nucleic Acids Res. 2000) 2 3 4 22 64
  2. MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism. (PMID: 22678361) Gari K. … Boulton S.J. (Science 2012) 2 3 4 64
  3. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PMID: 22678362) Stehling O. … Lill R. (Science 2012) 2 3 4 64
  4. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs F.B. … Barcellos L.F. (Am. J. Epidemiol. 2010) 3 46 64
  5. MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation. (PMID: 20797633) Ito S. … Tanaka K. (Mol. Cell 2010) 3 4 64

Products for MMS19 Gene

Sources for MMS19 Gene

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