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    MMS19 MMS19 homolog, cytosolic iron-sulfur assembly component [ Homo sapiens (human) ]

    Gene ID: 64210, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MMS19provided by HGNC
    Official Full Name
    MMS19 homolog, cytosolic iron-sulfur assembly componentprovided by HGNC
    Primary source
    HGNC:HGNC:13824
    See related
    Ensembl:ENSG00000155229 MIM:614777; AllianceGenome:HGNC:13824
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CIAO4; MET18; MMS19L; hMMS19
    Summary
    Enables nuclear estrogen receptor binding activity and transcription coactivator activity. Involved in protein maturation by iron-sulfur cluster transfer. Located in cytosol; nucleoplasm; and spindle. Part of MMXD complex and cytosolic [4Fe-4S] assembly targeting complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 18.2), skin (RPKM 14.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MMS19 in Genome Data Viewer
    Location:
    10q24.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (97458324..97498794, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (98338507..98378987, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99218081..99258551, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99204892-99205472 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99205473-99206052 Neighboring gene exosome component 1 Neighboring gene zinc finger DHHC-type palmitoyltransferase 16 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99257304-99257834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2680 Neighboring gene ubiquitin domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99277050-99277878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99301395-99302007 Neighboring gene uncharacterized LOC124902488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:99302008-99302619 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99311139-99311639 Neighboring gene NANOG hESC enhancer GRCh37_chr10:99313431-99313932 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2682 Neighboring gene Sharpr-MPRA regulatory region 14301 Neighboring gene ankyrin repeat domain 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Nucleotide excision repair pathway polymorphisms and pancreatic cancer risk: evidence for role of MMS19L. McWilliams RR, et al. Cancer Epidemiol Biomarkers Prev, 2009 Apr. PMID 19318433, Free PMC Article
    2. MMS19 as a potential predictive marker of adjuvant chemotherapy benefit in resected non-small cell lung cancer. Adam J, et al. Cancer Biomark, 2016 Sep 26. PMID 27802208
    3. Methyl-methanesulfonate sensitivity 19 expression is associated with metastasis and chemoradiotherapy response in esophageal cancer. Zhang JL, et al. World J Gastroenterol, 2015 Apr 14. PMID 25892874, Free PMC Article
    4. MMS19 localizes to mitochondria and protects the mitochondrial genome from oxidative damage. Wu R, et al. Biochem Cell Biol, 2018 Feb. PMID 29035693
    5. The role of single nucleotide polymorphisms of the ERCC1 and MMS19 genes in predicting platinum-sensitivity, progression-free and overall survival in advanced epithelial ovarian cancer. Moxley KM, et al. Gynecol Oncol, 2013 Aug. PMID 23632208

    See all (141) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
      Title: CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
    2. The c-MYC transcription factor conduces to resistance to cisplatin by regulating MMS19 in bladder cancer cells.
      Title: The c-MYC transcription factor conduces to resistance to cisplatin by regulating MMS19 in bladder cancer cells.
    3. Structural insights into Fe-S protein biogenesis by the CIA targeting complex.
      Title: Structural insights into Fe-S protein biogenesis by the CIA targeting complex.
    4. findings suggest that MMS19 plays an essential role in maintaining mitochondrial genome stability
      Title: MMS19 localizes to mitochondria and protects the mitochondrial genome from oxidative damage.
    5. POLE1 is phosphorylated at serine-1940 after DNA damage and interacts with the iron-sulfur complex chaperones CIAO1 and MMS19.
      Title: Human DNA polymerase ε is phosphorylated at serine-1940 after DNA damage and interacts with the iron-sulfur complex chaperones CIAO1 and MMS19.
    6. We therefore propose the expression level of MMS19 as a candidate predictive marker of ACT benefit in resected NSCLC patients.
      Title: MMS19 as a potential predictive marker of adjuvant chemotherapy benefit in resected non-small cell lung cancer.
    7. Suggest that MMS19 may be a potential new predictor of metastasis and chemoradiotherapy response in esophageal squamous cell carcinoma.
      Title: Methyl-methanesulfonate sensitivity 19 expression is associated with metastasis and chemoradiotherapy response in esophageal cancer.
    8. MMS19L polymorphisms are associated with response to chemotherapy in osteosarcoma.
      Title: Predictive impact of common variations in DNA repair genes on clinical outcome of osteosarcoma.
    9. Single nucleotide polymorphisms in the MMS19L gene is associated with bone malignant tumors.
      Title: Single nucleotide polymorphisms in the NER pathway and clinical outcome of patients with bone malignant tumors.
    10. Polymorphisms in ERCC1, codon-118 and MMS19 genes are not associated with clinical response to platinum or survival.
      Title: The role of single nucleotide polymorphisms of the ERCC1 and MMS19 genes in predicting platinum-sensitivity, progression-free and overall survival in advanced epithelial ovarian cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ34167, FLJ95146, MGC99604

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclear estrogen receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables signaling receptor complex adaptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables transcription coactivator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein maturation by iron-sulfur cluster transfer IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein maturation by iron-sulfur cluster transfer IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein maturation by iron-sulfur cluster transfer IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MMXD complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MMXD complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of cytosolic [4Fe-4S] assembly targeting complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytosolic [4Fe-4S] assembly targeting complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription factor TFIIH holo complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    MMS19 nucleotide excision repair protein homolog
    Names
    MET18 homolog
    MMS19 cytosolic iron-sulfur assembly component
    MMS19 nucleotide excision repair homolog
    MMS19-like (MET18 homolog, S. cerevisiae)
    MMS19-like protein
    homolog of yeast MMS19

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001289403.2 → NP_001276332.1  MMS19 nucleotide excision repair protein homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the coding region, compared to variant 1. This results in a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AK304287, BC009396, BC143285, DC382327, DC410036
      Consensus CDS
      CCDS73177.1
      UniProtKB/Swiss-Prot
      Q96T76
      Related
      ENSP00000348097.6, ENST00000355839.10
      Conserved Domains (2) summary
      pfam12460
      Location:495 → 919
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:53 → 268
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II

    2. NM_001289404.2 → NP_001276333.1  MMS19 nucleotide excision repair protein homolog isoform 3

      See identical proteins and their annotated locations for NP_001276333.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from a downstream start codon, compared to variant 1. This results in an isoform (3) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC009396, BC033101, DC382327, DC410036
      UniProtKB/Swiss-Prot
      Q96T76
      Conserved Domains (2) summary
      pfam12460
      Location:379 → 803
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:1 → 153
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II

    3. NM_001289405.2 → NP_001276334.1  MMS19 nucleotide excision repair protein homolog isoform 1

      See identical proteins and their annotated locations for NP_001276334.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1 and 4 encode the same protein (isoform 1).
      Source sequence(s)
      AF319947, AL355490, AL359388, BC009396
      Consensus CDS
      CCDS7464.1
      UniProtKB/Swiss-Prot
      B0QZ75, B3KPE5, B4DQX2, B4E2I3, D3DR55, F8W9Y2, Q17RZ8, Q5T455, Q66K82, Q7L4W8, Q969Z1, Q96DF1, Q96MR1, Q96RK5, Q96SK1, Q96T76, Q9BUE2, Q9BYS9
      Related
      ENSP00000359818.1, ENST00000370782.6
      Conserved Domains (2) summary
      pfam12460
      Location:538 → 962
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:53 → 311
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II

    4. NM_001330128.2 → NP_001317057.1  MMS19 nucleotide excision repair protein homolog isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two alternate, in-frame exons in the central coding region compared to variant 1. It encodes isoform 5, which is shorter than isoform 1.
      Source sequence(s)
      AK027710, BC009396, CN260136, DA482032, DA509912, DA855951, DC410036
      Consensus CDS
      CCDS81493.1
      UniProtKB/Swiss-Prot
      Q96T76
      Related
      ENSP00000320059.10, ENST00000327238.14

    5. NM_001351356.2 → NP_001338285.1  MMS19 nucleotide excision repair protein homolog isoform 6

      Status: VALIDATED

      Source sequence(s)
      AK314374, BC009396, CO248418, DC323254, DC382327
      Conserved Domains (2) summary
      pfam12460
      Location:577 → 1001
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:53 → 350
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II

    6. NM_001351357.2 → NP_001338286.1  MMS19 nucleotide excision repair protein homolog isoform 7

      Status: VALIDATED

      Source sequence(s)
      AK314374, BC009396, BE382510, CO248418, DB145487, DC382327
      Conserved Domains (2) summary
      pfam12460
      Location:380 → 804
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:1 → 153
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II

    7. NM_001351358.2 → NP_001338287.1  MMS19 nucleotide excision repair protein homolog isoform 8

      Status: VALIDATED

      Source sequence(s)
      AF319947, BC009396, DA413922, DB199128, DC382327
      UniProtKB/TrEMBL
      H0Y746
      Conserved Domains (1) summary
      pfam12460
      Location:174 → 598
      MMS19_C; RNAPII transcription regulator C-terminal

    8. NM_001351359.2 → NP_001338288.1  MMS19 nucleotide excision repair protein homolog isoform 8

      Status: VALIDATED

      Source sequence(s)
      AF319947, BC009396, DA226319, DA413922, DB199128, DC382327
      UniProtKB/TrEMBL
      H0Y746
      Conserved Domains (1) summary
      pfam12460
      Location:174 → 598
      MMS19_C; RNAPII transcription regulator C-terminal

    9. NM_022362.5 → NP_071757.4  MMS19 nucleotide excision repair protein homolog isoform 1

      See identical proteins and their annotated locations for NP_071757.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 4 encode the same protein.
      Source sequence(s)
      AK314374, BC009396, DC382327
      Consensus CDS
      CCDS7464.1
      UniProtKB/Swiss-Prot
      B0QZ75, B3KPE5, B4DQX2, B4E2I3, D3DR55, F8W9Y2, Q17RZ8, Q5T455, Q66K82, Q7L4W8, Q969Z1, Q96DF1, Q96MR1, Q96RK5, Q96SK1, Q96T76, Q9BUE2, Q9BYS9
      Related
      ENSP00000412698.2, ENST00000438925.7
      Conserved Domains (2) summary
      pfam12460
      Location:538 → 962
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:53 → 311
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      97458324..97498794 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425624.1 → XP_047281580.1  MMS19 nucleotide excision repair protein homolog isoform X10

    2. XM_047425623.1 → XP_047281579.1  MMS19 nucleotide excision repair protein homolog isoform X9

    3. XM_047425622.1 → XP_047281578.1  MMS19 nucleotide excision repair protein homolog isoform X8

    4. XM_017016518.3 → XP_016872007.1  MMS19 nucleotide excision repair protein homolog isoform X5

    5. XM_017016521.3 → XP_016872010.1  MMS19 nucleotide excision repair protein homolog isoform X7

    6. XM_006717944.5 → XP_006718007.2  MMS19 nucleotide excision repair protein homolog isoform X2

      Conserved Domains (2) summary
      pfam12460
      Location:537 → 961
      MMS19_C; RNAPII transcription regulator C-terminal
      pfam14500
      Location:53 → 311
      MMS19_N; Dos2-interacting transcription regulator of RNA-Pol-II

    7. XM_047425621.1 → XP_047281577.1  MMS19 nucleotide excision repair protein homolog isoform X4

    8. XM_017016517.3 → XP_016872006.1  MMS19 nucleotide excision repair protein homolog isoform X3

    9. XM_017016519.3 → XP_016872008.1  MMS19 nucleotide excision repair protein homolog isoform X6

    10. XM_017016516.3 → XP_016872005.1  MMS19 nucleotide excision repair protein homolog isoform X1

    11. XM_047425627.1 → XP_047281583.1  MMS19 nucleotide excision repair protein homolog isoform X13

    12. XM_011540063.4 → XP_011538365.1  MMS19 nucleotide excision repair protein homolog isoform X14

      UniProtKB/TrEMBL
      H0Y746
      Related
      ENSP00000410008.1, ENST00000434538.5
      Conserved Domains (1) summary
      pfam12460
      Location:123 → 547
      MMS19_C; RNAPII transcription regulator C-terminal

    13. XM_047425626.1 → XP_047281582.1  MMS19 nucleotide excision repair protein homolog isoform X12

    14. XM_047425625.1 → XP_047281581.1  MMS19 nucleotide excision repair protein homolog isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      98338507..98378987 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366546.1 → XP_054222521.1  MMS19 nucleotide excision repair protein homolog isoform X10

    2. XM_054366545.1 → XP_054222520.1  MMS19 nucleotide excision repair protein homolog isoform X9

    3. XM_054366544.1 → XP_054222519.1  MMS19 nucleotide excision repair protein homolog isoform X8

    4. XM_054366541.1 → XP_054222516.1  MMS19 nucleotide excision repair protein homolog isoform X5

    5. XM_054366543.1 → XP_054222518.1  MMS19 nucleotide excision repair protein homolog isoform X7

    6. XM_054366538.1 → XP_054222513.1  MMS19 nucleotide excision repair protein homolog isoform X2

    7. XM_054366540.1 → XP_054222515.1  MMS19 nucleotide excision repair protein homolog isoform X4

    8. XM_054366539.1 → XP_054222514.1  MMS19 nucleotide excision repair protein homolog isoform X3

    9. XM_054366542.1 → XP_054222517.1  MMS19 nucleotide excision repair protein homolog isoform X6

    10. XM_054366537.1 → XP_054222512.1  MMS19 nucleotide excision repair protein homolog isoform X1

    11. XM_054366547.1 → XP_054222522.1  MMS19 nucleotide excision repair protein homolog isoform X13

    12. XM_054366548.1 → XP_054222523.1  MMS19 nucleotide excision repair protein homolog isoform X14

    RNA

    1. XR_008488247.1 RNA Sequence

    2. XR_008488246.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96T76.2 GenPept UniProtKB/Swiss-Prot:Q96T76

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