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Aliases for MMS19 Gene

Aliases for MMS19 Gene

  • MMS19 Nucleotide Excision Repair Homolog (S. Cerevisiae) 2 3
  • MMS19L 3 4 6
  • MMS19-Like Protein 3 4
  • MET18 Homolog 3 4
  • HMMS19 3 4
  • MMS19 Nucleotide Excision Repair Protein Homolog 3
  • MMS19-Like (MET18 Homolog, S. Cerevisiae) 3
  • MET18 Homolog (S. Cerevisiae) 2
  • Homolog Of Yeast MMS19 3
  • MET18 3

External Ids for MMS19 Gene

Previous Symbols for MMS19 Gene

  • MMS19L

Summaries for MMS19 Gene

GeneCards Summary for MMS19 Gene

MMS19 (MMS19 Nucleotide Excision Repair Homolog (S. Cerevisiae)) is a Protein Coding gene. Among its related pathways are Metabolism and Cytosolic Iron-sulfur Cluster Assembly. GO annotations related to this gene include transcription coactivator activity and estrogen receptor binding.

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

Genomic Location for MMS19 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MMS19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMS19 Gene

No data available for Regulatory Elements 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

Proteomics data for MMS19 Gene at MOPED

Post-translational modifications for MMS19 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys373

No data available for DME Specific Peptides for MMS19 Gene

Domains for MMS19 Gene

Protein Domains for MMS19 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96T76

UniProtKB/Swiss-Prot:

MMS19_HUMAN
Family:
  • Belongs to the MET18/MMS19 family.:
    • Q96T76
Similarity:
  • Contains 7 HEAT repeats.:
    • Q96T76
genes like me logo Genes that share domains with MMS19: view

No data available for Gene Families for MMS19 Gene

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:0005488 binding --
GO:0005515 protein binding IPI 11279242
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

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 IDA --
GO:0005819 spindle IDA 20797633
genes like me logo Genes that share ontologies with MMS19: view

Pathways for MMS19 Gene

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

Pathways by source 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

Transcripts for MMS19 Gene

Unigene Clusters for MMS19 Gene

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

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 for MMS19 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MMS19 Gene

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 expressions with MMS19: view

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 35
  • 99.55 (n)
  • 99.51 (a)
MMS19 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MMS19 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MMS19 35
  • 91.9 (n)
  • 93.22 (a)
MMS19 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mms19 35
  • 86.98 (n)
  • 90.28 (a)
Mms19 16
Mms19 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MMS19 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MMS19 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mms19l 35
  • 86.59 (n)
  • 88.91 (a)
chicken
(Gallus gallus)
Aves MMS19 35
  • 72.95 (n)
  • 74.25 (a)
MMS19 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMS19 36
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15499 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mms19 35
  • 65.12 (n)
  • 64.86 (a)
Str.13543 35
zebrafish
(Danio rerio)
Actinopterygii mms19 35
  • 58.13 (n)
  • 56.43 (a)
mms19 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mms19 36
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mms-19 36
  • 22 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER377C 35
  • 39.37 (n)
  • 26.84 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET18 35
  • 39.73 (n)
  • 29.12 (a)
MET18 36
  • 23 (a)
OneToOne
MET18 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04565g 35
  • 39.28 (n)
  • 27.71 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mms19 35
  • 39.81 (n)
  • 27.24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToOne
Species with no ortholog for MMS19:
  • 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 MAF
rs3381 -- 97,481,381(-) TCAGA(A/G)GAATG intron-variant
rs872106 -- 97,476,460(+) CAGCA(C/G)TAAAT intron-variant
rs954853 -- 97,488,860(+) actgc(A/G)aacaa intron-variant
rs1272674 -- 97,475,692(-) tggtg(C/T)gatct intron-variant
rs1572266 -- 97,481,724(-) TTGTT(C/G)CTGCT intron-variant

Relevant External Links for MMS19 Gene

HapMap Linkage Disequilibrium report
MMS19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MMS19 Gene

Disorders for MMS19 Gene

Relevant External Links for MMS19

Genetic Association Database (GAD)
MMS19
Human Genome Epidemiology (HuGE) Navigator
MMS19
genes like me logo Genes that share disorders with MMS19: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. The human homologue of the yeast DNA repair and TFIIH regulator MMS19 is an AF-1-specific coactivator of estrogen receptor. (PMID: 11279242) Wu X. … Chen J.D. (J. Biol. Chem. 2001) 3 4
  3. Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant. (PMID: 11328871) Queimado L. … Friedberg E.C. (Nucleic Acids Res. 2001) 3 4
  4. Nucleotide excision repair pathway polymorphisms and pancreatic cancer risk: evidence for role of MMS19L. (PMID: 19318433) McWilliams R.R. … Petersen G.M. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 48
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for MMS19 Gene

Sources for MMS19 Gene

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