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    MMS22L MMS22 like, DNA repair protein [ Homo sapiens (human) ]

    Gene ID: 253714, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MMS22Lprovided by HGNC
    Official Full Name
    MMS22 like, DNA repair proteinprovided by HGNC
    Primary source
    HGNC:HGNC:21475
    See related
    Ensembl:ENSG00000146263 MIM:615614; AllianceGenome:HGNC:21475
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C6orf167; dJ39B17.2
    Summary
    The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
    Expression
    Broad expression in testis (RPKM 2.1), bone marrow (RPKM 1.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MMS22L in Genome Data Viewer
    Location:
    6q16.1
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (97142161..97284035, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (98315584..98457957, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (97590037..97731092, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17409 Neighboring gene MPRA-validated peak5969 silencer Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 4 Neighboring gene RNA, 7SL, cytoplasmic 509, pseudogene Neighboring gene MPRA-validated peak5970 silencer Neighboring gene kelch like family member 32 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:97439657-97440156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24847 Neighboring gene Sharpr-MPRA regulatory region 4079 Neighboring gene VISTA enhancer hs676 Neighboring gene MPRA-validated peak5971 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24849 Neighboring gene uncharacterized LOC101927314 Neighboring gene VISTA enhancer hs978 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:97869967-97870670 Neighboring gene uncharacterized LOC105377909 Neighboring gene VISTA enhancer hs1564 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:97972665-97973270 Neighboring gene uncharacterized LOC107986627

    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. Rescuing stalled replication forks: MMS22L-TONSL, a novel complex for DNA replication fork repair in human cells. Piwko W, et al. Cell Cycle, 2011 Jun 1. PMID 21519189
    2. Identification of a novel oncogene, MMS22L, involved in lung and esophageal carcinogenesis. Nguyen MH, et al. Int J Oncol, 2012 Oct. PMID 22895565
    3. MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC. van Schie JJ, et al. Life Sci Alliance, 2023 Feb. PMID 36622344, Free PMC Article
    4. Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients. Leone MA, et al. PLoS One, 2013. PMID 23785401, Free PMC Article
    5. H4K20me0 marks post-replicative chromatin and recruits the TONSL–MMS22L DNA repair complex. Saredi G, et al. Nature, 2016 Jun 30. PMID 27338793, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC.
      Title: MMS22L-TONSL functions in sister chromatid cohesion in a pathway parallel to DSCC1-RFC.
    2. uncovered DNA-PKcs-dependent DNA damage-induced ASF1A phosphorylation, which enhances chromatin assembly, promoting MMS22L-TONSL recruitment and, hence, Rad51 loading.
      Title: The Histone Chaperones ASF1 and CAF-1 Promote MMS22L-TONSL-Mediated Rad51 Loading onto ssDNA during Homologous Recombination in Human Cells.
    3. By specifically regulating RAD51 activity at uncoupled replication forks, MMS22L-TONSL stabilizes perturbed replication forks by promoting replication fork reversal and stimulating their homologous recombination-mediated restart in vivo.
      Title: The MMS22L-TONSL heterodimer directly promotes RAD51-dependent recombination upon replication stress.
    4. new histones incorporated during DNA replication provide a signature of post-replicative chromatin, read by the human TONSL-MMS22L homologous recombination complex
      Title: H4K20me0 marks post-replicative chromatin and recruits the TONSL–MMS22L DNA repair complex.
    5. Our data strongly suggest that targeting MMS22L as well as its interaction with NFKBIL2 could be a promising strategy for novel cancer treatments.
      Title: Identification of a novel oncogene, MMS22L, involved in lung and esophageal carcinogenesis.
    6. Results strongly suggest that the Mms22L-Nfkbil2 complex contributes to genome stability by regulating the chromatin state at stalled replication forks.
      Title: RNAi-based screening identifies the Mms22L-Nfkbil2 complex as a novel regulator of DNA replication in human cells.
    7. This study identifies MMS22L-NFKBIL2 as components of the replication stress control pathway.
      Title: A genome-wide camptothecin sensitivity screen identifies a mammalian MMS22L-NFKBIL2 complex required for genomic stability.
    8. MMS22L and TONSL are required for the maintenance of genome stability.
      Title: Identification of the MMS22L-TONSL complex that promotes homologous recombination.
    9. These results indicate that MMS22L and TONSL are genome caretakers that stimulate the recombination-dependent repair of stalled or collapsed replication forks.
      Title: The MMS22L-TONSL complex mediates recovery from replication stress and homologous recombination.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46180, KIAA1900, DKFZp781C2113, DKFZp686C20164

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in double-strand break repair via homologous recombination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in replication fork processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in replication fork processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in replication fork processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of FACT complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MCM complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nuclear replication fork IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nuclear replication fork IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear replication fork IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in site of DNA damage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in site of double-strand break IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein MMS22-like

    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_001350599.2 → NP_001337528.1  protein MMS22-like isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AL023656, AL353679, AL590484
      Consensus CDS
      CCDS5039.1
      UniProtKB/Swiss-Prot
      D6R9Y8, D6RBQ4, E1P529, Q5THT2, Q68CQ6, Q68D32, Q6ZRQ5
      UniProtKB/TrEMBL
      A0A2Z2E9D2
      Related
      ENSP00000508046.1, ENST00000683635.1
      Conserved Domains (2) summary
      pfam14910
      Location:26 → 731
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:852 → 1227
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    2. NM_001350600.2 → NP_001337529.1  protein MMS22-like isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AL023656, AL353679, AL590484
      Conserved Domains (2) summary
      pfam14910
      Location:1 → 448
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:569 → 944
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    3. NM_198468.4 → NP_940870.2  protein MMS22-like isoform a

      See identical proteins and their annotated locations for NP_940870.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK128060, AL023656, AL590484, HY007888
      Consensus CDS
      CCDS5039.1
      UniProtKB/Swiss-Prot
      D6R9Y8, D6RBQ4, E1P529, Q5THT2, Q68CQ6, Q68D32, Q6ZRQ5
      UniProtKB/TrEMBL
      A0A2Z2E9D2
      Related
      ENSP00000275053.4, ENST00000275053.8
      Conserved Domains (2) summary
      pfam14910
      Location:26 → 731
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:852 → 1227
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      97142161..97284035 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418577.1 → XP_047274533.1  protein MMS22-like isoform X4

      UniProtKB/TrEMBL
      E2QRD4
      Related
      ENSP00000358254.2, ENST00000369251.6

    2. XM_047418578.1 → XP_047274534.1  protein MMS22-like isoform X4

      UniProtKB/TrEMBL
      E2QRD4

    3. XM_047418575.1 → XP_047274531.1  protein MMS22-like isoform X2

      UniProtKB/Swiss-Prot
      D6R9Y8, D6RBQ4, E1P529, Q5THT2, Q68CQ6, Q68D32, Q6ZRQ5

    4. XM_047418579.1 → XP_047274535.1  protein MMS22-like isoform X4

      UniProtKB/TrEMBL
      E2QRD4

    5. XM_047418574.1 → XP_047274530.1  protein MMS22-like isoform X2

      UniProtKB/Swiss-Prot
      D6R9Y8, D6RBQ4, E1P529, Q5THT2, Q68CQ6, Q68D32, Q6ZRQ5

    6. XM_011535680.4 → XP_011533982.1  protein MMS22-like isoform X8

      Conserved Domains (2) summary
      pfam14910
      Location:1 → 212
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:333 → 705
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    7. XM_011535678.4 → XP_011533980.1  protein MMS22-like isoform X6

      Conserved Domains (2) summary
      pfam14910
      Location:21 → 437
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:558 → 930
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    8. XM_011535679.4 → XP_011533981.1  protein MMS22-like isoform X7

      Conserved Domains (2) summary
      pfam14910
      Location:1 → 328
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:449 → 821
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    9. XM_047418580.1 → XP_047274536.1  protein MMS22-like isoform X5

    10. XM_011535676.4 → XP_011533978.1  protein MMS22-like isoform X5

      UniProtKB/TrEMBL
      A0A2Z2E9D2
      Conserved Domains (2) summary
      pfam14910
      Location:1 → 505
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:626 → 998
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    11. XM_011535675.3 → XP_011533977.1  protein MMS22-like isoform X3

      UniProtKB/TrEMBL
      A0A2Z2E9D2
      Conserved Domains (2) summary
      pfam14910
      Location:26 → 691
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:812 → 1184
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    12. XM_047418576.1 → XP_047274532.1  protein MMS22-like isoform X3

    13. XM_011535674.4 → XP_011533976.1  protein MMS22-like isoform X1

      See identical proteins and their annotated locations for XP_011533976.1

      UniProtKB/TrEMBL
      A0A2Z2E9D2
      Conserved Domains (2) summary
      pfam14910
      Location:26 → 731
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:852 → 1224
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    14. XM_011535670.3 → XP_011533972.1  protein MMS22-like isoform X1

      See identical proteins and their annotated locations for XP_011533972.1

      UniProtKB/TrEMBL
      A0A2Z2E9D2
      Conserved Domains (2) summary
      pfam14910
      Location:26 → 731
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:852 → 1224
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    15. XM_011535672.4 → XP_011533974.1  protein MMS22-like isoform X1

      See identical proteins and their annotated locations for XP_011533974.1

      UniProtKB/TrEMBL
      A0A2Z2E9D2
      Conserved Domains (2) summary
      pfam14910
      Location:26 → 731
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:852 → 1224
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    16. XM_011535671.4 → XP_011533973.1  protein MMS22-like isoform X1

      See identical proteins and their annotated locations for XP_011533973.1

      UniProtKB/TrEMBL
      A0A2Z2E9D2
      Conserved Domains (2) summary
      pfam14910
      Location:26 → 731
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
      pfam14911
      Location:852 → 1224
      MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal

    17. XM_047418583.1 → XP_047274539.1  protein MMS22-like isoform X10

    18. XM_006715432.4 → XP_006715495.1  protein MMS22-like isoform X9

      Conserved Domains (1) summary
      pfam14910
      Location:26 → 680
      MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal

    19. XM_047418582.1 → XP_047274538.1  protein MMS22-like isoform X9

    20. XM_047418581.1 → XP_047274537.1  protein MMS22-like isoform X11

    RNA

    1. XR_942376.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      98315584..98457957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355023.1 → XP_054210998.1  protein MMS22-like isoform X2

    2. XM_054355029.1 → XP_054211004.1  protein MMS22-like isoform X4

    3. XM_054355028.1 → XP_054211003.1  protein MMS22-like isoform X4

    4. XM_054355024.1 → XP_054210999.1  protein MMS22-like isoform X2

    5. XM_054355027.1 → XP_054211002.1  protein MMS22-like isoform X4

    6. XM_054355034.1 → XP_054211009.1  protein MMS22-like isoform X8

    7. XM_054355032.1 → XP_054211007.1  protein MMS22-like isoform X6

    8. XM_054355033.1 → XP_054211008.1  protein MMS22-like isoform X7

    9. XM_054355030.1 → XP_054211005.1  protein MMS22-like isoform X5

    10. XM_054355031.1 → XP_054211006.1  protein MMS22-like isoform X5

    11. XM_054355026.1 → XP_054211001.1  protein MMS22-like isoform X3

    12. XM_054355025.1 → XP_054211000.1  protein MMS22-like isoform X3

    13. XM_054355022.1 → XP_054210997.1  protein MMS22-like isoform X1

    14. XM_054355021.1 → XP_054210996.1  protein MMS22-like isoform X1

    15. XM_054355020.1 → XP_054210995.1  protein MMS22-like isoform X1

    16. XM_054355019.1 → XP_054210994.1  protein MMS22-like isoform X1

    17. XM_054355036.1 → XP_054211011.1  protein MMS22-like isoform X9

    18. XM_054355037.1 → XP_054211012.1  protein MMS22-like isoform X10

    19. XM_054355035.1 → XP_054211010.1  protein MMS22-like isoform X9

    RNA

    1. XR_008487288.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZRQ5.3 GenPept UniProtKB/Swiss-Prot:Q6ZRQ5

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