LOCUS       NP_001337528            1243 aa            linear   PRI 12-FEB-2025
DEFINITION  protein MMS22-like isoform a [Homo sapiens].
ACCESSION   NP_001337528 XP_006715493
VERSION     NP_001337528.1
DBSOURCE    REFSEQ: accession NM_001350599.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1243)
  AUTHORS   van Schie,J.J., de Lint,K., Pai,G.M., Rooimans,M.A., Wolthuis,R.M.
            and de Lange,J.
  TITLE     MMS22L-TONSL functions in sister chromatid cohesion in a pathway
            parallel to DSCC1-RFC
  JOURNAL   Life Sci Alliance 6 (2), e202201596 (2022)
   PUBMED   36622344
  REMARK    GeneRIF: MMS22L-TONSL functions in sister chromatid cohesion in a
            pathway parallel to DSCC1-RFC.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1243)
  AUTHORS   Huang,T.H., Fowler,F., Chen,C.C., Shen,Z.J., Sleckman,B. and
            Tyler,J.K.
  TITLE     The Histone Chaperones ASF1 and CAF-1 Promote MMS22L-TONSL-Mediated
            Rad51 Loading onto ssDNA during Homologous Recombination in Human
            Cells
  JOURNAL   Mol Cell 69 (5), 879-892 (2018)
   PUBMED   29478807
  REMARK    GeneRIF: uncovered DNA-PKcs-dependent DNA damage-induced ASF1A
            phosphorylation, which enhances chromatin assembly, promoting
            MMS22L-TONSL recruitment and, hence, Rad51 loading.
            Erratum:[Mol Cell. 2020 Mar 5;77(5):1153. doi:
            10.1016/j.molcel.2020.02.019.. PMID: 32142686]
REFERENCE   3  (residues 1 to 1243)
  AUTHORS   Schrors,B., Lubcke,S., Lennerz,V., Fatho,M., Bicker,A., Wolfel,C.,
            Derigs,P., Hankeln,T., Schadendorf,D., Paschen,A. and Wolfel,T.
  TITLE     HLA class I loss in metachronous metastases prevents continuous T
            cell recognition of mutated neoantigens in a human melanoma model
  JOURNAL   Oncotarget 8 (17), 28312-28327 (2017)
   PUBMED   28423700
REFERENCE   4  (residues 1 to 1243)
  AUTHORS   Piwko,W., Mlejnkova,L.J., Mutreja,K., Ranjha,L., Stafa,D.,
            Smirnov,A., Brodersen,M.M., Zellweger,R., Sturzenegger,A.,
            Janscak,P., Lopes,M., Peter,M. and Cejka,P.
  TITLE     The MMS22L-TONSL heterodimer directly promotes RAD51-dependent
            recombination upon replication stress
  JOURNAL   EMBO J 35 (23), 2584-2601 (2016)
   PUBMED   27797818
  REMARK    GeneRIF: 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.
REFERENCE   5  (residues 1 to 1243)
  AUTHORS   Saredi,G., Huang,H., Hammond,C.M., Alabert,C., Bekker-Jensen,S.,
            Forne,I., Reveron-Gomez,N., Foster,B.M., Mlejnkova,L., Bartke,T.,
            Cejka,P., Mailand,N., Imhof,A., Patel,D.J. and Groth,A.
  TITLE     H4K20me0 marks post-replicative chromatin and recruits the
            TONSL-MMS22L DNA repair complex
  JOURNAL   Nature 534 (7609), 714-718 (2016)
   PUBMED   27338793
  REMARK    GeneRIF: new histones incorporated during DNA replication provide a
            signature of post-replicative chromatin, read by the human
            TONSL-MMS22L homologous recombination complex
REFERENCE   6  (residues 1 to 1243)
  AUTHORS   Piwko,W., Buser,R. and Peter,M.
  TITLE     Rescuing stalled replication forks: MMS22L-TONSL, a novel complex
            for DNA replication fork repair in human cells
  JOURNAL   Cell Cycle 10 (11), 1703-1705 (2011)
   PUBMED   21519189
REFERENCE   7  (residues 1 to 1243)
  AUTHORS   Piwko,W., Olma,M.H., Held,M., Bianco,J.N., Pedrioli,P.G.,
            Hofmann,K., Pasero,P., Gerlich,D.W. and Peter,M.
  TITLE     RNAi-based screening identifies the Mms22L-Nfkbil2 complex as a
            novel regulator of DNA replication in human cells
  JOURNAL   EMBO J 29 (24), 4210-4222 (2010)
   PUBMED   21113133
  REMARK    GeneRIF: Results strongly suggest that the Mms22L-Nfkbil2 complex
            contributes to genome stability by regulating the chromatin state
            at stalled replication forks.
REFERENCE   8  (residues 1 to 1243)
  AUTHORS   O'Connell,B.C., Adamson,B., Lydeard,J.R., Sowa,M.E., Ciccia,A.,
            Bredemeyer,A.L., Schlabach,M., Gygi,S.P., Elledge,S.J. and
            Harper,J.W.
  TITLE     A genome-wide camptothecin sensitivity screen identifies a
            mammalian MMS22L-NFKBIL2 complex required for genomic stability
  JOURNAL   Mol Cell 40 (4), 645-657 (2010)
   PUBMED   21055985
  REMARK    GeneRIF: This study identifies MMS22L-NFKBIL2 as components of the
            replication stress control pathway.
REFERENCE   9  (residues 1 to 1243)
  AUTHORS   Duro,E., Lundin,C., Ask,K., Sanchez-Pulido,L., MacArtney,T.J.,
            Toth,R., Ponting,C.P., Groth,A., Helleday,T. and Rouse,J.
  TITLE     Identification of the MMS22L-TONSL complex that promotes homologous
            recombination
  JOURNAL   Mol Cell 40 (4), 632-644 (2010)
   PUBMED   21055984
  REMARK    GeneRIF: MMS22L and TONSL are required for the maintenance of
            genome stability.
REFERENCE   10 (residues 1 to 1243)
  AUTHORS   O'Donnell,L., Panier,S., Wildenhain,J., Tkach,J.M., Al-Hakim,A.,
            Landry,M.C., Escribano-Diaz,C., Szilard,R.K., Young,J.T., Munro,M.,
            Canny,M.D., Kolas,N.K., Zhang,W., Harding,S.M., Ylanko,J.,
            Mendez,M., Mullin,M., Sun,T., Habermann,B., Datti,A., Bristow,R.G.,
            Gingras,A.C., Tyers,M.D., Brown,G.W. and Durocher,D.
  TITLE     The MMS22L-TONSL complex mediates recovery from replication stress
            and homologous recombination
  JOURNAL   Mol Cell 40 (4), 619-631 (2010)
   PUBMED   21055983
  REMARK    GeneRIF: These results indicate that MMS22L and TONSL are genome
            caretakers that stimulate the recombination-dependent repair of
            stalled or collapsed replication forks.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353679.18, AL590484.10 and
            AL023656.8.
            
            On Apr 20, 2017 this sequence version replaced XP_006715493.1.
            
            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].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 both encode the same isoform (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2440007.1,
                                           SRR14038196.2708671.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000683635.1/ ENSP00000508046.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1243
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q16.1"
     Protein         1..1243
                     /product="protein MMS22-like isoform a"
                     /calculated_mol_wt=142190
     Region          26..731
                     /region_name="MMS22L_N"
                     /note="S-phase genomic integrity recombination mediator,
                     N-terminal; pfam14910"
                     /db_xref="CDD:464366"
     Region          852..1227
                     /region_name="MMS22L_C"
                     /note="S-phase genomic integrity recombination mediator,
                     C-terminal; pfam14911"
                     /db_xref="CDD:464367"
     CDS             1..1243
                     /gene="MMS22L"
                     /gene_synonym="C6orf167; dJ39B17.2"
                     /coded_by="NM_001350599.2:198..3929"
                     /note="isoform a is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS5039.1"
                     /db_xref="GeneID:253714"
                     /db_xref="HGNC:HGNC:21475"
                     /db_xref="MIM:615614"
ORIGIN      
        1 mencsaastf ltdslelelg tewckppyfs cavdnrgggk hfsgesylcs galkrlilnl
       61 dplptnfeed tleifgiqwv tetalvnssr elfhlfrqql ynletllqss cdfgkvstlh
      121 ckadnirqqc vlflhyvkvf ifrylkvqna eshvpvhpye aleaqlpsvl idelhgllly
      181 ighlselpsv nigafvnqnq iklfppswhl lhlhldihwl vleilymlge klkqvvyghq
      241 fmnlasdnlt nislfeehce tllcdlisls lnrydkvrss eslmsdqcpc lcikelwvll
      301 ihlldhrskw fvsesfwnwl nkllktllek ssdrrrssmp viqsrdplgf swwiithvas
      361 fykfdrhgvp demrkvesnw nfveellkks isvqgvilee qlrmylhccl tlcdfwepni
      421 aivtilweyy sknlnssfsi swlpfkglan tmksplsmle mvktcccdkq dqelykssss
      481 ytiflcilak vvkkamksng phpwkqvkgr iyskfhqkrm eeltevglqn ffslflllaa
      541 vaevedvash vldllnflkp afvtsqrali wkghmafllm yaqknldigv laekfscafr
      601 ekakeflvsk neemvqrqti wtllsiyidg vqevfetsyc lypsheklln dgfsmllrac
      661 reselrtvls flqavlarir smhqqlcqel qrdnvdlfvq sslsakerhl aavasalwrh
      721 ffsflksqrm sqvvpfsqla daaadftlla mdmpstapsd fqpqpvisii qlfgwddiic
      781 pqvvarylsh vlqnstlcea lshsgyvsfq altvrswirc vlqmyiknls gpddllidkn
      841 leeavekeym kqlvkltrll fnlsevksif skaqveylsi sedpkkalvr ffeavgvtyg
      901 nvqtlsdksa mvtksleylg evlkyikpyl gkkvfsaglq ltygmmgilv kswaqifats
      961 kaqkllfrii dclllphavl qqekelpapm lsaiqkslpl ylqgmcivcc qsqnpnayln
     1021 qllgnvieqy igrflpaspy vsdlgqhpvl lalrntatip pisslkkciv qvirksyley
     1081 kgssppprla silafilqlf ketntdiyev elllpgilkc lvlvsepqvk rlatenlqym
     1141 vkacqvgsee epssqltsvf rqfiqdygmr yyyqvysile tvatldqqvv ihlistltqs
     1201 lkdseqkwgl grniaqreay skllshlgqm gqdemqrlen dnt
//
