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MMS19 Gene

protein-coding   GIFtS: 54
GCID: GC10M099218

MMS19 Nucleotide Excision Repair Homolog (S. Cerevisiae)


(Previous symbol: MMS19L)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
MMS19 Nucleotide Excision Repair Homolog (S. Cerevisiae)1 2     MET18 Homolog (S. Cerevisiae)1
MMS19L1 2 3 5     MET182
hMMS192 3     Homolog Of Yeast MMS192
MET18 Homolog2 3     MMS19 Nucleotide Excision Repair Protein Homolog2
MMS19-Like Protein2 3     MMS19-Like (MET18 Homolog, S. Cerevisiae)2

External Ids:    HGNC: 138241   Entrez Gene: 642102   Ensembl: ENSG000001552297   OMIM: 6147775   UniProtKB: Q96T763   

Export aliases for MMS19 gene to outside databases

Previous GC identifers: GC10M099209 GC10M092843


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MMS19 Gene:
MMS19 (MMS19 nucleotide excision repair homolog (S. cerevisiae)) is a protein-coding gene. GO annotations related to this gene include transcription coactivator activity and estrogen receptor binding.

UniProtKB/Swiss-Prot: MMS19_HUMAN, Q96T76
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 Wiki entry for MMS19 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MMS19
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMMS19 promoter sequence
   Search Chromatin IP Primers for MMS19

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MMS19


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24-q25   Ensembl cytogenetic band:  10q24.1   HGNC cytogenetic band: 10q24-q25

MMS19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MMS19 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M099218:  view genomic region     (about GC identifiers)

Start:
99,218,081 bp from pter      End:
99,258,551 bp from pter
Size:
40,471 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MMS19_HUMAN, Q96T76 (See protein sequence)
Recommended Name: MMS19 nucleotide excision repair protein homolog  
Size: 1030 amino acids; 113290 Da
Subunit: 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
Sequence caution: Sequence=AAH80532.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAB55315.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB71223.1; Type=Erroneous
translation; Note=Wrong choice of CDS; Sequence=BAG51657.1; Type=Erroneous initiation; Note=Translation
N-terminally extended; Sequence=CAC29239.1; Type=Frameshift; Positions=373, 412;
Secondary accessions: B0QZ75 B3KPE5 B4DQX2 B4E2I3 D3DR55 F8W9Y2 Q17RZ8 Q5T455 Q66K82 Q7L4W8
Q969Z1 Q96DF1 Q96MR1 Q96RK5 Q96SK1 Q9BUE2 Q9BYS9
Alternative splicing: 6 isoforms:  Q96T76-1   Q96T76-7   Q96T76-6   Q96T76-5   Q96T76-8   Q96T76-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MMS19: NX_Q96T76

Explore proteomics data for MMS19 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys373
  • Modification sites at PhosphoSitePlus

  • See MMS19 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001276332.1  NP_001276333.1  NP_001276334.1  NP_071757.4  

    ENSEMBL proteins: 
     ENSP00000415326   ENSP00000410008   ENSP00000395045   ENSP00000412698   ENSP00000359818  
     ENSP00000320059   ENSP00000402819   ENSP00000409425   ENSP00000413801   ENSP00000391765  
     ENSP00000393929   ENSP00000400028   ENSP00000348097   ENSP00000322236  
    Reactome Protein details: Q96T76

    MMS19 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for MMS19
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    Novus Biologicals MMS19 Protein
    Novus Biologicals MMS19 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MMS19

     
    Search eBioscience for Proteins for MMS19 

     
    antibodies-online proteins for MMS19 (2 products) 

     
    antibodies-online peptides for MMS19

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    antibodies-online antibodies for MMS19 (31 products) 

    MMS19 Assay Products:

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    Cloud-Clone Corp. ELISAs for MMS19
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    Search eBioscience for ELISAs for MMS19 
    antibodies-online kits for MMS19 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011989 ARM-like
     IPR024687 Tscrpt_C
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q96T76

    ProtoNet protein and cluster: Q96T76

    1 Blocks protein domain: IPB000357 HEAT repeat

    UniProtKB/Swiss-Prot: MMS19_HUMAN, Q96T76
    Similarity: Belongs to the MET18/MMS19 family
    Similarity: Contains 7 HEAT repeats


    Find genes that share domains with MMS19           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MMS19_HUMAN, Q96T76
    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IMP11279242
    GO:0005488binding ----
    GO:0005515protein binding IPI11279242
    GO:0030159receptor signaling complex scaffold activity NAS11279242
    GO:0030331estrogen receptor binding IPI11279242
         
    Find genes that share ontologies with MMS19           About GenesLikeMe


    Phenotypes:
         4 GenomeRNAi human phenotypes for MMS19:
     Decreased Salmonella enterica   Decreased viability with pacli  Increased Salmonella enterica   Increased Salmonella enterica  

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MMS19

    miRNA
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    miRTarBase miRNAs that target MMS19:
    hsa-mir-29c-3p (MIRT044232), hsa-mir-34a-5p (MIRT025507), hsa-mir-92b-3p (MIRT040621), hsa-mir-16-5p (MIRT005262), hsa-mir-24-3p (MIRT030607)

    Block miRNA regulation of human, mouse, rat MMS19 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate MMS19:
    hsa-miR-376a* hsa-miR-219-5p hsa-miR-3918 hsa-miR-342-3p hsa-miR-3153
    SwitchGear 3'UTR luciferase reporter plasmidMMS19 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MMS19

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMS19


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MMS19_HUMAN, Q96T76: Nucleus. Cytoplasm, cytoskeleton, spindle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    nucleus5
    plasma membrane2
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS11071939
    GO:0005675holo TFIIH complex NAS11279242
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005819spindle IDA--

    Find genes that share ontologies with MMS19           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MMS19 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    2Cytosolic Iron-sulfur Cluster Assembly
    Cytosolic Iron-sulfur Cluster Assembly


    Find genes that share SuperPaths with MMS19           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MMS19
        Cytosolic iron-sulfur cluster assembly


        Pathway & Disease-focused RT2 Profiler PCR Array including MMS19: 
              DNA Repair in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MMS19

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MMS19 (Q96T763 ENSP000003598184) via UniProtKB, MINT, STRING, and/or I2D (see all 255)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000160phosphorelay signal transduction system NAS11279242
    GO:0006259DNA metabolic process IMP--
    GO:0006281DNA repair IMP--
    GO:0006289nucleotide-excision repair TAS11071939
    GO:0006351transcription, DNA-templated NAS11071939

    Find genes that share ontologies with MMS19           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MMS19



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MMS19 gene (4 alternative transcripts): 
    NM_001289403.1  NM_001289404.1  NM_001289405.1  NM_022362.4  

    Unigene Cluster for MMS19:

    MMS19 nucleotide excision repair homolog (S. cerevisiae)
    Hs.500721  [show with all ESTs]
    Unigene Representative Sequence: NM_022362
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000444411 ENST00000495415(uc001knq.3) ENST00000434538 ENST00000415383
    ENST00000438925(uc001kns.4 uc010qox.2) ENST00000370782(uc009xvs.3 uc009xvt.3 uc001knr.3 uc001knt.3)
    ENST00000485400 ENST00000327238 ENST00000480108 ENST00000478452 ENST00000434392
    ENST00000437002 ENST00000441194 ENST00000483626 ENST00000422685 ENST00000448660
    ENST00000439048 ENST00000477575
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate MMS19:
    hsa-miR-376a* hsa-miR-219-5p hsa-miR-3918 hsa-miR-342-3p hsa-miR-3153
    SwitchGear 3'UTR luciferase reporter plasmidMMS19 3' UTR sequence
    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for MMS19
    OriGene qSTAR qPCR primer pairs in human, mouse for MMS19
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MMS19
      QuantiTect SYBR Green Assays in human, mouse, rat MMS19
      QuantiFast Probe-based Assays in human, mouse, rat MMS19

    Additional mRNA sequence: 

    AF007151.1 AF319947.1 AF357881.1 AJ306408.1 AK025496.1 AK027710.1 AK056244.1 AK225312.1 
    AK298995.1 AK304287.1 AK314374.1 BC002692.1 BC006575.2 BC009396.2 BC033101.1 BC080532.1 
    BC117129.1 BC143285.1 

    Selected DOTS entries (see all 48):

    DT.444596  DT.86860011  DT.92446167  DT.95241410  DT.97812610  DT.100812486  DT.100812484  DT.100812482 
    DT.100812480  DT.40293675  DT.100037479  DT.121247423  DT.121247412  DT.121247439  DT.121247373  DT.121247478 
    DT.100812478  DT.121247456  DT.100812477  DT.121247435  DT.121247440  DT.91822060  DT.121247366  DT.121247382 

    Selected AceView cDNA sequences (see all 395):

    AL039250 CK820502 BU554190 AI277091 AI686854 AA913838 BE901669 AW008756 
    AK025496 AA316419 BC006575 BE465026 AW513476 BE673076 BI913216 AW304067 
    BQ010074 T35145 AI281034 AW513464 AK056581 AI784284 AK027710 BI906632 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MMS19 (see all 23)    About this scheme

    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:                                                                                                                                                            

    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:                                                                                                        -                       -           -               

    ExUns: 30a · 30b · 30c ^ 31 ^ 32a · 32b · 32c ^ 33 ^ 34a · 34b ^ 35a · 35b
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                      -     -     -                     
    SP5:                          -                                             


    ECgene alternative splicing isoforms for MMS19

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MMS19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGTACAAA
    MMS19 Expression
    About this image

    MMS19 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MMS19 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.500721

    UniProtKB/Swiss-Prot: MMS19_HUMAN, Q96T76
    Tissue specificity: Ubiquitously expressed with higher expression in testis

        Pathway & Disease-focused RT2 Profiler PCR Array including MMS19: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MMS19 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mms191 , 5 MMS19 (MET18 S. cerevisiae)1, 5 86.98(n)1
    90.28(a)1
      19 (35.49 cM)5
    721991  NM_028152.31  NP_082428.11 
     419410865 
    chicken
    (Gallus gallus)
    Aves MMS191 MMS19 nucleotide excision repair homolog (S. cerevisiae) 72.95(n)
    74.25(a)
      423842  XM_421710.4  XP_421710.4 
    lizard
    (Anolis carolinensis)
    Reptilia MMS196
    MMS19 nucleotide excision repair homolog (S. cerev...
    69(a)
    1 ↔ 1
    GL343810.1(28674-66684)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.154992 Xenopus laevis transcribed sequence with weak similarity more 75.02(n)    48047146 
    zebrafish
    (Danio rerio)
    Actinopterygii mms191 MMS19 nucleotide excision repair homolog (S. cerevisiae) 58.13(n)
    56.43(a)
      563643  XM_005155991.1  XP_005156048.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mms196
    Mms19
    27(a)
    1 ↔ 1
    3R(1058268-1062011)
    worm
    (Caenorhabditis elegans)
    Secernentea mms-196
    Protein MMS-19 (mms-19) mRNA, complete cds
    22(a)
    1 ↔ 1
    V(5514348-5520463) WBGene00016060
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MET18(YIL128W)4
    MET181
    DNA repair and TFIIH regulator, required for both nucleotide more4
    MET181
    39.73(n)1
    29.12(a)1
      9(113806-116904)4
    8546781, 4  NP_012138.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MMS19 (see all 916)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1896284111,2
    --99217682(+) AAGGCA/GTATGC 1 -- ds50010--------
    rs1815568281,2
    --99217708(+) ATTTTC/TGTATT 1 -- ds50010--------
    rs1129204331,2
    F--99217872(+) AGATGG/AGTTCT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1862210291,2
    --99217931(+) CCTGCC/GTCAGC 1 -- ds50010--------
    rs1901536531,2
    --99218053(+) TATGTG/TGGGTG 1 -- ds50010--------
    rs1450334921,2
    --99218065(+) GGGAAA/GTATCT 1 -- ds50010--------
    rs290013341,2
    C,F--99218236(-) CTTGCG/ATTTGA 1 -- ut31 ese36Minor allele frequency- A:0.06NS WA 282
    rs3689175211,2
    C--99218312(+) ATGCAA/GCAGAG 1 -- ut310--------
    rs1475517161,2
    --99218417(+) TTAGAC/TTGTCA 1 -- ut310--------
    rs360234271,2
    C,F--99218456(-) CCCTGG/ACAGCT 2 /D /G mis13Minor allele frequency- A:0.01NA EU 5169

    HapMap Linkage Disequilibrium report for MMS19 (99218081 - 99258551 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MMS19: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MMS19
    DNA2.0 Custom Variant and Variant Library Synthesis for MMS19

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614777    OMIM disorders: --


    Find genes that share disorders with MMS19           About GenesLikeMe

    Genetic Association Database (GAD): MMS19
    Human Genome Epidemiology (HuGE) Navigator: MMS19 (4 documents)

    Export disorders for MMS19 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MMS19 gene, integrated from 10 sources (see all 50):
    (articles sorted by number of sources associating them with MMS19)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 11071939)1, 2, 3, 9 Seroz T....Hoeijmakers J.H.J. (Nucleic Acids Res. 2000)
    2. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PubMed id 22678362)1, 2 Stehling O.... Lill R. (Science 2012)
    3. MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism. (PubMed id 22678361)1, 2 Gari K....Boulton S.J. (Science 2012)
    4. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    5. MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation. (PubMed id 20797633)1, 2 Ito S.... Tanaka K. (Mol. Cell 2010)
    6. Nucleotide excision repair pathway polymorphisms and pancreatic cancer risk: evidence for role of MMS19L. (PubMed id 19318433)1, 4 McWilliams R.R....Petersen G.M. (amp 2009)
    7. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 64210 HGNC: 13824 AceView: MMS19L Ensembl:ENSG00000155229 euGenes: HUgn64210
    ECgene: MMS19 H-InvDB: MMS19

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MMS19 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mms19l/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MMS19 gene:
    Search GeneIP for patents involving MMS19

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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