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

Gene ID: 253714, updated on 13-Mar-2020

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
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

Genomic context

See MMS22L in Genome Data Viewer
Location:
6q16.1
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (97142161..97283437, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (97590037..97731126, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 509, pseudogene Neighboring gene kelch like family member 32 Neighboring gene VISTA enhancer hs676 Neighboring gene uncharacterized LOC101927314 Neighboring gene VISTA enhancer hs978 Neighboring gene uncharacterized LOC105377909

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

NHGRI GWAS Catalog

Description
Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46180, KIAA1900, DKFZp781C2113, DKFZp686C20164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
replication fork processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
replication fork processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with FACT complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with MCM complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with MCM complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear replication fork IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear replication fork IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

NCBI Reference Sequences (RefSeq)

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
    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 precursor

    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
    Q6ZRQ5
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    97142161..97283437 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535680.3XP_011533982.1  protein MMS22-like isoform X7

    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
  2. XM_011535678.3XP_011533980.1  protein MMS22-like isoform X5

    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
  3. XM_011535679.3XP_011533981.1  protein MMS22-like isoform X6

    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
  4. XM_017010656.2XP_016866145.1  protein MMS22-like isoform X3

    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
  5. XM_011535676.3XP_011533978.1  protein MMS22-like isoform X3

    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
  6. XM_011535677.2XP_011533979.1  protein MMS22-like isoform X4

    Conserved Domains (2) summary
    pfam14910
    Location:1448
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal
    pfam14911
    Location:569941
    MMS22L_C; S-phase genomic integrity recombination mediator, C-terminal
  7. XM_011535674.3XP_011533976.1  protein MMS22-like isoform X1

    See identical proteins and their annotated locations for XP_011533976.1

    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
  8. XM_011535672.3XP_011533974.1  protein MMS22-like isoform X1

    See identical proteins and their annotated locations for XP_011533974.1

    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
  9. XM_011535671.3XP_011533973.1  protein MMS22-like isoform X1

    See identical proteins and their annotated locations for XP_011533973.1

    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
  10. XM_011535675.2XP_011533977.1  protein MMS22-like isoform X2

    Related
    ENSP00000358254.2, ENST00000369251.6
    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
  11. XM_011535670.2XP_011533972.1  protein MMS22-like isoform X1

    See identical proteins and their annotated locations for XP_011533972.1

    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
  12. XM_006715432.3XP_006715495.1  protein MMS22-like isoform X8

    Conserved Domains (1) summary
    pfam14910
    Location:26680
    MMS22L_N; S-phase genomic integrity recombination mediator, N-terminal

RNA

  1. XR_942376.1 RNA Sequence

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