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Q6ZRQ5 (MMS22_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 79. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein MMS22-like
Alternative name(s):
Methyl methanesulfonate-sensitivity protein 22-like
Gene names
Name:MMS22L
Synonyms:C6orf167
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1243 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the MMS22L-TONSL complex, a complex that stimulates the recombination-dependent repair of stalled or collapsed replication forks. The MMS22L-TONSL complex is required to maintain genome integrity during DNA replication by promoting homologous recombination-mediated repair of replication fork-associated double-strand breaks. It may act by mediating the assembly of RAD51 filaments on ssDNA. Ref.5 Ref.6 Ref.7

Subunit structure

Component of the MMS22L-TONSL complex, a complex at least composed of MMS22L and TONSL/NFKBIL2. Ref.5 Ref.6 Ref.7

Subcellular location

Nucleus. Note: Localizes to DNA damage sites, accumulates at stressed replication forks. Ref.5 Ref.6

Sequence similarities

Belongs to the MMS22 family. MMS22L subfamily.

Sequence caution

The sequence CAI16668.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI20426.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Biological processDNA damage
DNA repair
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processdouble-strand break repair via homologous recombination

Inferred from mutant phenotype Ref.5Ref.6Ref.7. Source: UniProtKB

replication fork processing

Inferred from mutant phenotype Ref.5Ref.6Ref.7. Source: UniProtKB

   Cellular_componentnuclear replication fork

Inferred from direct assay Ref.5Ref.6. Source: UniProtKB

   Molecular_functionprotein binding

Inferred from physical interaction Ref.5Ref.6Ref.7. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

TONSLQ96HA75EBI-718662,EBI-1052467

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 12431243Protein MMS22-like
PRO_0000260216

Natural variations

Natural variant4191N → D.
Corresponds to variant rs9374435 [ dbSNP | Ensembl ].
VAR_029013
Natural variant5641T → M. Ref.1
Corresponds to variant rs9481410 [ dbSNP | Ensembl ].
VAR_029014
Natural variant8751V → A. Ref.1
Corresponds to variant rs1737145 [ dbSNP | Ensembl ].
VAR_029015
Natural variant10151P → L.
Corresponds to variant rs10484830 [ dbSNP | Ensembl ].
VAR_029016

Experimental info

Sequence conflict2921C → R in BAC87254. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q6ZRQ5 [UniParc].

Last modified December 15, 2009. Version 3.
Checksum: B63CE3030701CD71

FASTA1,243142,321
        10         20         30         40         50         60 
MENCSAASTF LTDSLELELG TEWCKPPYFS CAVDNRGGGK HFSGESYLCS GALKRLILNL 

        70         80         90        100        110        120 
DPLPTNFEED TLEIFGIQWV TETALVNSSR ELFHLFRQQL YNLETLLQSS CDFGKVSTLH 

       130        140        150        160        170        180 
CKADNIRQQC VLFLHYVKVF IFRYLKVQNA ESHVPVHPYE ALEAQLPSVL IDELHGLLLY 

       190        200        210        220        230        240 
IGHLSELPSV NIGAFVNQNQ IKLFPPSWHL LHLHLDIHWL VLEILYMLGE KLKQVVYGHQ 

       250        260        270        280        290        300 
FMNLASDNLT NISLFEEHCE TLLCDLISLS LNRYDKVRSS ESLMSDQCPC LCIKELWVLL 

       310        320        330        340        350        360 
IHLLDHRSKW FVSESFWNWL NKLLKTLLEK SSDRRRSSMP VIQSRDPLGF SWWIITHVAS 

       370        380        390        400        410        420 
FYKFDRHGVP DEMRKVESNW NFVEELLKKS ISVQGVILEE QLRMYLHCCL TLCDFWEPNI 

       430        440        450        460        470        480 
AIVTILWEYY SKNLNSSFSI SWLPFKGLAN TMKSPLSMLE MVKTCCCDKQ DQELYKSSSS 

       490        500        510        520        530        540 
YTIFLCILAK VVKKAMKSNG PHPWKQVKGR IYSKFHQKRM EELTEVGLQN FFSLFLLLAA 

       550        560        570        580        590        600 
VAEVEDVASH VLDLLNFLKP AFVTSQRALI WKGHMAFLLM YAQKNLDIGV LAEKFSCAFR 

       610        620        630        640        650        660 
EKAKEFLVSK NEEMVQRQTI WTLLSIYIDG VQEVFETSYC LYPSHEKLLN DGFSMLLRAC 

       670        680        690        700        710        720 
RESELRTVLS FLQAVLARIR SMHQQLCQEL QRDNVDLFVQ SSLSAKERHL AAVASALWRH 

       730        740        750        760        770        780 
FFSFLKSQRM SQVVPFSQLA DAAADFTLLA MDMPSTAPSD FQPQPVISII QLFGWDDIIC 

       790        800        810        820        830        840 
PQVVARYLSH VLQNSTLCEA LSHSGYVSFQ ALTVRSWIRC VLQMYIKNLS GPDDLLIDKN 

       850        860        870        880        890        900 
LEEAVEKEYM KQLVKLTRLL FNLSEVKSIF SKAQVEYLSI SEDPKKALVR FFEAVGVTYG 

       910        920        930        940        950        960 
NVQTLSDKSA MVTKSLEYLG EVLKYIKPYL GKKVFSAGLQ LTYGMMGILV KSWAQIFATS 

       970        980        990       1000       1010       1020 
KAQKLLFRII DCLLLPHAVL QQEKELPAPM LSAIQKSLPL YLQGMCIVCC QSQNPNAYLN 

      1030       1040       1050       1060       1070       1080 
QLLGNVIEQY IGRFLPASPY VSDLGQHPVL LALRNTATIP PISSLKKCIV QVIRKSYLEY 

      1090       1100       1110       1120       1130       1140 
KGSSPPPRLA SILAFILQLF KETNTDIYEV ELLLPGILKC LVLVSEPQVK RLATENLQYM 

      1150       1160       1170       1180       1190       1200 
VKACQVGSEE EPSSQLTSVF RQFIQDYGMR YYYQVYSILE TVATLDQQVV IHLISTLTQS 

      1210       1220       1230       1240 
LKDSEQKWGL GRNIAQREAY SKLLSHLGQM GQDEMQRLEN DNT 

« Hide

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS MET-564 AND ALA-875.
Tissue: Testis.
[2]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-277 AND 1043-1243.
Tissue: Fetal kidney and Uterine endothelium.
[5]"The MMS22L-TONSL complex mediates recovery from replication stress and homologous recombination."
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. expand/collapse author list , Habermann B., Datti A., Bristow R.G., Gingras A.C., Tyers M.D., Brown G.W., Durocher D.
Mol. Cell 40:619-631(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE MMS22L-TONSL COMPLEX.
[6]"Identification of the MMS22L-TONSL complex that promotes homologous recombination."
Duro E., Lundin C., Ask K., Sanchez-Pulido L., MacArtney T.J., Toth R., Ponting C.P., Groth A., Helleday T., Rouse J.
Mol. Cell 40:632-644(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE MMS22L-TONSL COMPLEX.
[7]"A genome-wide camptothecin sensitivity screen identifies a mammalian MMS22L-NFKBIL2 complex required for genomic stability."
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., Harper J.W.
Mol. Cell 40:645-657(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, IDENTIFICATION IN THE MMS22L-TONSL COMPLEX.
[8]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK128060 mRNA. Translation: BAC87254.1.
AL023656, AL590484 Genomic DNA. Translation: CAI20426.1. Sequence problems.
AL353679 Genomic DNA. No translation available.
AL590484, AL023656 Genomic DNA. Translation: CAI16668.1. Sequence problems.
CH471051 Genomic DNA. Translation: EAW48494.1.
CH471051 Genomic DNA. Translation: EAW48496.1.
CR749603 mRNA. Translation: CAH18398.1.
CR749822 mRNA. Translation: CAH18682.1.
CCDSCCDS5039.1.
RefSeqNP_940870.2. NM_198468.2.
XP_006715493.1. XM_006715430.1.
UniGeneHs.444292.

3D structure databases

ProteinModelPortalQ6ZRQ5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid128982. 18 interactions.
IntActQ6ZRQ5. 2 interactions.
MINTMINT-1378146.

PTM databases

PhosphoSiteQ6ZRQ5.

Polymorphism databases

DMDM281185507.

Proteomic databases

MaxQBQ6ZRQ5.
PaxDbQ6ZRQ5.
PRIDEQ6ZRQ5.

Protocols and materials databases

DNASU253714.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000275053; ENSP00000275053; ENSG00000146263.
GeneID253714.
KEGGhsa:253714.
UCSCuc003ppb.3. human.

Organism-specific databases

CTD253714.
GeneCardsGC06M097590.
H-InvDBHIX0025055.
HGNCHGNC:21475. MMS22L.
neXtProtNX_Q6ZRQ5.
PharmGKBPA134878007.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG27315.
HOVERGENHBG058755.
InParanoidQ6ZRQ5.
OMAEVGLQNF.
OrthoDBEOG7K0ZBB.
PhylomeDBQ6ZRQ5.
TreeFamTF353832.

Gene expression databases

ArrayExpressQ6ZRQ5.
BgeeQ6ZRQ5.
CleanExHS_C6orf167.
GenevestigatorQ6ZRQ5.

Family and domain databases

InterProIPR029424. MMS22L_C.
IPR029425. MMS22L_N.
[Graphical view]
PfamPF14911. MMS22L_C. 1 hit.
PF14910. MMS22L_N. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMMS22L.
GenomeRNAi253714.
NextBio92148.
PROQ6ZRQ5.

Entry information

Entry nameMMS22_HUMAN
AccessionPrimary (citable) accession number: Q6ZRQ5
Secondary accession number(s): D6R9Y8 expand/collapse secondary AC list , D6RBQ4, E1P529, Q5THT2, Q68CQ6, Q68D32
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: December 15, 2009
Last modified: July 9, 2014
This is version 79 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM