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

Gene ID: 64210, updated on 27-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
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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
  • 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. 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
  2. MMS19 localizes to mitochondria and protects the mitochondrial genome from oxidative damage. Wu R, et al. Biochem Cell Biol, 2018 Feb. PMID 29035693
  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. 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
  5. Predictive impact of common variations in DNA repair genes on clinical outcome of osteosarcoma. Bai SB, et al. Asian Pac J Cancer Prev, 2013. PMID 23886164

See all (143) 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)

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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