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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. Gene Ontology (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

Additional gene information for MMS19 Gene

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

Genomics for MMS19 Gene

GeneHancer (GH) Regulatory Elements for MMS19 Gene

Promoters and enhancers for MMS19 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I097497 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.4 -367 3.9 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 MMS19 UBTD1 ZDHHC16 ANKRD2 MORN4 GC10P097506
GH10I097421 Enhancer 1.1 ENCODE dbSUPER 86.5 +75.4 75436 2.8 ZNF493 ZNF529 ZFP64 BATF ZNF213 ZNF354C ZNF138 ZNF366 ETV6 FOS GC10M097425 PIR45391 MMS19 LCOR EXOSC1 R3HCC1L NPM1P26 TM9SF3 RPL13AP5 MARVELD1
GH10I096579 Enhancer 1.4 Ensembl ENCODE dbSUPER 55.5 +917.8 917797 2.7 FEZF1 GLI4 ZNF2 ZNF121 ZNF416 KLF7 ZNF548 ATF7 KLF13 ZNF202 ZNF518A TCTN3 MMS19 CCNJ LCOR EXOSC1 NPM1P26 TM9SF3 MIR607 ALDH18A1
GH10I097569 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 20.8 -74.4 -74427 6.5 HDGF PKNOX1 FOXA2 ZFP64 ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B ETS1 ANKRD2 MMS19 R3HCC1L HPS1 EXOSC1 LOXL4 LCOR RPL13AP5 MARVELD1 ENSG00000230928
GH10I098132 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 19.5 -635.7 -635669 3.2 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 POLR2B R3HCC1L HPS1 LOXL4 EXOSC1 MMS19 MARVELD1 ENSG00000278752
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MMS19 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MMS19 Gene

Genomic Locations for MMS19 Gene
chr10:97,458,324-97,498,794
(GRCh38/hg38)
Size:
40,471 bases
Orientation:
Minus strand
chr10:99,218,081-99,258,551
(GRCh37/hg19)

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 Lys373
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MMS19 Gene

Domains & Families for MMS19 Gene

Gene 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.
Family:
  • Belongs to the MET18/MMS19 family.
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.

Phenotypes From GWAS Catalog for MMS19 Gene

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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MMS19 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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,IEA 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

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

Drugs & Compounds for MMS19 Gene

No Compound Related Data Available

Transcripts for MMS19 Gene

Unigene Clusters for MMS19 Gene

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

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for MMS19 Gene

  • Nervous system(5)
  • Intestine(3.3)
  • Lung(2.9)
genes like me logo Genes that share expression patterns with MMS19: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia MMS19 33 34
  • 91.9 (n)
cow
(Bos Taurus)
Mammalia MMS19 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mms19 33 16 34
  • 86.98 (n)
rat
(Rattus norvegicus)
Mammalia Mms19l 33
  • 86.59 (n)
oppossum
(Monodelphis domestica)
Mammalia MMS19 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MMS19 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMS19 33 34
  • 72.95 (n)
lizard
(Anolis carolinensis)
Reptilia MMS19 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mms19 33
  • 65.12 (n)
Str.13543 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15499 33
zebrafish
(Danio rerio)
Actinopterygii mms19 33 34
  • 58.13 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mms19 34
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mms-19 34
  • 22 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET18 33 34 36
  • 39.73 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER377C 33
  • 39.37 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F04565g 33
  • 39.28 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mms19 33
  • 39.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000082728 -- 97,468,926(-) T/C intron_variant
rs1000088355 -- 97,462,027(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000199230 -- 97,484,033(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000244245 -- 97,487,350(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000244617 -- 97,484,417(-) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_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)

Additional Variant Information for MMS19 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MMS19 Gene

Additional Disease Information for MMS19

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

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 JH (Nucleic acids research 2000) 2 3 4 22 58
  2. MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism. (PMID: 22678361) Gari K … Boulton SJ (Science (New York, N.Y.) 2012) 2 3 4 58
  3. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PMID: 22678362) Stehling O … Lill R (Science (New York, N.Y.) 2012) 2 3 4 58
  4. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs FB … International Multiple Sclerosis Genetics Consortium (American journal of epidemiology 2010) 3 44 58
  5. MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation. (PMID: 20797633) Ito S … Tanaka K (Molecular cell 2010) 3 4 58

Products for MMS19 Gene

Sources for MMS19 Gene

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