Human_Genes_Functions
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Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

MMS22L

MMS22L

protein_coding 6 97,141,741 - 97,283,241 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000146263
Gene type
protein_coding
Chromosome
6
Coordinates
97,141,741 - 97,283,241
Strand
-
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

253714 C6orf167 CCDS5039 ENST00000683635.1 MMS22-like, DNA repair protein NM_001350599.2 NM_198468 Q6ZRQ5 chromosome 6 open reading frame 167 dJ39B17.2

Summary

GENCODE gene_type=protein_coding; HGNC symbol=MMS22L; HGNC name=MMS22 like; alias_count=11; RefSeq=NM_198468; UniProt=Q6ZRQ5; MANE Select=ENST00000683635.1,NM_001350599.2

Source: GENCODE + HGNC complete set

253714 • protein-coding

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]

NCBI Gene

UniProt

Q6ZRQ5 • reviewed

Component of the MMS22L-TONSL complex, a complex that promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks (PubMed:21055983, PubMed:21055984, PubMed:21055985, PubMed:21113133, PubMed:26527279, PubMed:27338793, PubMed:29478807). The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication (PubMed:21055983, PubMed:21055984, PubMed:21055985, PubMed:27797818). It mediates the assembly of RAD51 filaments on single-stranded DNA (ssDNA): the MMS22L-TONSL complex is recruited to DSBs following histone replacement by histone chaperones and eviction of the replication protein A complex (RPA/RP-A) from DSBs (PubMed:21055983, PubMed:21055984, PubMed:21055985, PubMed:29478807). Following recruitment to DSBs, the TONSL-MMS22L complex promotes recruitment of RAD51 filaments and subsequent homologous recombination (PubMed:27797818, PubMed:29478807). Within the complex, MMS22L acts by binding ssDNA (PubMed:27797818)

Protein MMS22-like · Nucleus; Chromosome

Q6ZRQ5 • reviewed

Component of the MMS22L-TONSL complex, a complex that promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks (PubMed:21055983, PubMed:21055984, PubMed:21055985, PubMed:21113133, PubMed:26527279, PubMed:27338793, PubMed:29478807). The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication (PubMed:21055983, PubMed:21055984, PubMed:21055985, PubMed:27797818). It mediates the assembly of RAD51 filaments on single-stranded DNA (ssDNA): the MMS22L-TONSL complex is recruited to DSBs following histone replacement by histone chaperones and eviction of the replication protein A complex (RPA/RP-A) from DSBs (PubMed:21055983, PubMed:21055984, PubMed:21055985, PubMed:29478807). Following recruitment to DSBs, the TONSL-MMS22L complex promotes recruitment of RAD51 filaments and subsequent homologous recombination (PubMed:27797818, PubMed:29478807). Within the complex, MMS22L acts by binding ssDNA (PubMed:27797818)

Protein MMS22-like · Nucleus; Chromosome

GO annotations

Biological process
  • GO:0000724 double-strand break repair via homologous recombination (IEA)
  • GO:0000724 double-strand break repair via homologous recombination (IMP)
  • GO:0000724 double-strand break repair via homologous recombination (IMP)
  • GO:0000724 double-strand break repair via homologous recombination (IMP)
  • GO:0000724 double-strand break repair via homologous recombination (IDA)
  • GO:0000724 double-strand break repair via homologous recombination (IBA)
  • GO:0071168 protein localization to chromatin (IDA)
  • GO:0031297 replication fork processing (IEA)
  • GO:0031297 replication fork processing (IMP)
  • GO:0031297 replication fork processing (IMP)

+ 4 more

Cellular component
  • GO:0035101 FACT complex (IDA)
  • GO:0042555 MCM complex (IDA)
  • GO:0005694 chromosome (IEA)
  • GO:0005694 chromosome (EXP)
  • GO:0005694 chromosome (EXP)
  • GO:0005694 chromosome (EXP)
  • GO:0005694 chromosome (EXP)
  • GO:0005694 chromosome (EXP)
  • GO:0043596 nuclear replication fork (IDA)
  • GO:0043596 nuclear replication fork (IDA)

+ 9 more

Molecular function
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0005515 protein binding (IPI)
  • GO:0003697 single-stranded DNA binding (IDA)

Representative

Representative transcript
ENST00000369251
Representative protein
ENSP00000358254.2
Representative type
GENCODE_Primary
Candidate count
6

GENCODE Release 50 annotation GTF · transcript.tag=GENCODE_Primary; transcript_support_level=2

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000275053 MMS22L-201 protein_coding not available ENSP00000275053.4 6:97,141,741 - 97,283,215 -
ENST00000369251 MMS22L-202 protein_coding not available ENSP00000358254.2 6:97,141,741 - 97,282,553 -
ENST00000929351 MMS22L-214 protein_coding not available ENSP00000599410.1 6:97,141,741 - 97,283,241 -
ENST00000929352 MMS22L-215 protein_coding not available ENSP00000599411.1 6:97,141,741 - 97,283,224 -
ENST00000929353 MMS22L-216 protein_coding not available ENSP00000599412.1 6:97,141,741 - 97,283,231 -
ENST00001140864 MMS22L-236 protein_coding not available ENSP00000815523.1 6:97,141,741 - 97,283,241 -
ENST00000683635 MMS22L-213 protein_coding not available ENSP00000508046.1 6:97,142,161 - 97,283,216 -
ENST00001055847 MMS22L-217 nonsense_mediated_decay not available ENSP00000725664.1 6:97,146,530 - 97,283,223 -
ENST00001055848 MMS22L-218 nonsense_mediated_decay not available ENSP00000725665.1 6:97,146,536 - 97,283,223 -
ENST00001077224 MMS22L-221 nonsense_mediated_decay not available ENSP00000747030.1 6:97,146,536 - 97,283,217 -
ENST00000514790 MMS22L-212 retained_intron not available not available 6:97,151,578 - 97,162,045 -
ENST00001112671 MMS22L-233 protein_coding not available ENSP00000782476.1 6:97,190,369 - 97,283,241 -
ENST00001112672 MMS22L-234 protein_coding not available ENSP00000782477.1 6:97,226,143 - 97,283,241 -
ENST00001107295 MMS22L-231 nonsense_mediated_decay not available ENSP00000777100.1 6:97,227,478 - 97,283,241 -
ENST00001112673 MMS22L-235 protein_coding not available ENSP00000782478.1 6:97,230,141 - 97,283,241 -
ENST00000509383 MMS22L-209 nonsense_mediated_decay not available ENSP00000422627.1 6:97,230,269 - 97,283,188 -
ENST00000510018 MMS22L-210 protein_coding not available ENSP00000427288.1 6:97,233,861 - 97,281,304 -
ENST00000482634 MMS22L-203 protein_coding not available ENSP00000421225.1 6:97,245,979 - 97,263,352 -
ENST00000508976 MMS22L-208 retained_intron not available not available 6:97,253,465 - 97,282,511 -
ENST00001077228 MMS22L-225 nonsense_mediated_decay not available ENSP00000747034.1 6:97,258,661 - 97,283,215 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.