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

Gene ID: 253714, updated on 10-Dec-2024

Summary

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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

General gene information

Clone Names

  • FLJ46180, KIAA1900, DKFZp781C2113, DKFZp686C20164

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of FACT complex PubMed 
part_of MCM complex PubMed 
located_in cytosol  
is_active_in nuclear replication fork  
is_active_in nuclear replication fork PubMed 
located_in nuclear replication fork PubMed 
located_in nucleoplasm  
located_in nucleus PubMed 
is_active_in site of DNA damage PubMed 
is_active_in site of double-strand break PubMed 

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_001350599.2NP_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:26731
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:8521227
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  2. NM_001350600.2NP_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:1448
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:569944
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  3. NM_198468.4NP_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:26731
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:8521227
    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_047418577.1XP_047274533.1  protein MMS22-like isoform X4

    UniProtKB/TrEMBL
    A0A2Z2E9D2, E2QRD4
    Related
    ENSP00000358254.2, ENST00000369251.6
  2. XM_047418578.1XP_047274534.1  protein MMS22-like isoform X4

    UniProtKB/TrEMBL
    A0A2Z2E9D2, E2QRD4
  3. XM_047418575.1XP_047274531.1  protein MMS22-like isoform X2

    UniProtKB/Swiss-Prot
    D6R9Y8, D6RBQ4, E1P529, Q5THT2, Q68CQ6, Q68D32, Q6ZRQ5
    UniProtKB/TrEMBL
    A0A2Z2E9D2
  4. XM_047418579.1XP_047274535.1  protein MMS22-like isoform X4

    UniProtKB/TrEMBL
    A0A2Z2E9D2, E2QRD4
  5. XM_047418574.1XP_047274530.1  protein MMS22-like isoform X2

    UniProtKB/Swiss-Prot
    D6R9Y8, D6RBQ4, E1P529, Q5THT2, Q68CQ6, Q68D32, Q6ZRQ5
    UniProtKB/TrEMBL
    A0A2Z2E9D2
  6. XM_011535680.4XP_011533982.1  protein MMS22-like isoform X8

    Conserved Domains (2) summary
    pfam14910
    Location:1212
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:333705
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  7. XM_011535678.4XP_011533980.1  protein MMS22-like isoform X6

    Conserved Domains (2) summary
    pfam14910
    Location:21437
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:558930
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  8. XM_011535679.4XP_011533981.1  protein MMS22-like isoform X7

    Conserved Domains (2) summary
    pfam14910
    Location:1328
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:449821
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  9. XM_047418580.1XP_047274536.1  protein MMS22-like isoform X5

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  10. XM_011535676.4XP_011533978.1  protein MMS22-like isoform X5

    UniProtKB/TrEMBL
    A0A2Z2E9D2
    Conserved Domains (2) summary
    pfam14910
    Location:1505
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:626998
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  11. XM_011535675.3XP_011533977.1  protein MMS22-like isoform X3

    UniProtKB/TrEMBL
    A0A2Z2E9D2
    Conserved Domains (2) summary
    pfam14910
    Location:26691
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:8121184
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  12. XM_047418576.1XP_047274532.1  protein MMS22-like isoform X3

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  13. XM_011535674.4XP_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:26731
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:8521224
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  14. XM_011535670.3XP_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:26731
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:8521224
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  15. XM_011535672.4XP_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:26731
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:8521224
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  16. XM_011535671.4XP_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:26731
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:8521224
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  17. XM_047418583.1XP_047274539.1  protein MMS22-like isoform X10

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

    Conserved Domains (1) summary
    pfam14910
    Location:26680
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
  19. XM_047418582.1XP_047274538.1  protein MMS22-like isoform X9

  20. XM_047418581.1XP_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_054355023.1XP_054210998.1  protein MMS22-like isoform X2

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  2. XM_054355029.1XP_054211004.1  protein MMS22-like isoform X4

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  3. XM_054355028.1XP_054211003.1  protein MMS22-like isoform X4

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  4. XM_054355024.1XP_054210999.1  protein MMS22-like isoform X2

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  5. XM_054355027.1XP_054211002.1  protein MMS22-like isoform X4

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  6. XM_054355034.1XP_054211009.1  protein MMS22-like isoform X8

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

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

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

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  10. XM_054355031.1XP_054211006.1  protein MMS22-like isoform X5

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  11. XM_054355026.1XP_054211001.1  protein MMS22-like isoform X3

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  12. XM_054355025.1XP_054211000.1  protein MMS22-like isoform X3

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  13. XM_054355022.1XP_054210997.1  protein MMS22-like isoform X1

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  14. XM_054355021.1XP_054210996.1  protein MMS22-like isoform X1

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  15. XM_054355020.1XP_054210995.1  protein MMS22-like isoform X1

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  16. XM_054355019.1XP_054210994.1  protein MMS22-like isoform X1

    UniProtKB/TrEMBL
    A0A2Z2E9D2
  17. XM_054355036.1XP_054211011.1  protein MMS22-like isoform X9

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

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

RNA

  1. XR_008487288.1 RNA Sequence

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