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

Gene ID: 253714, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (97142161..97284035, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (98315584..98457957, complement)
105.20220307 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. Identification of a novel oncogene, MMS22L, involved in lung and esophageal carcinogenesis. Nguyen MH, et al. Int J Oncol, 2012 Oct. PMID 22895565
  2. 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
  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. 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
  5. Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients. Leone MA, et al. PLoS One, 2013. PMID 23785401, Free PMC Article

See all (30) 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)

Genotypes

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_2023_10

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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