UniProt:P54278 PMS2

chain
  • chain:1-862
checksum B1B9547280ECAF9A
comment
  • FUNCTION Component of the post-replicative DNA mismatch repair system (MMR) (PubMed:30653781, PubMed:35189042). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Possesses an ATPase activity, but in the absence of gross structural changes, ATP hydrolysis may not be necessary for proficient mismatch repair (PubMed:35189042).CATALYTIC ACTIVITY ATP + H2O = ADP + phosphate + H(+)BIOPHYSICOCHEMICAL PROPERTIES kcat is 0.2 min(-1) with ATP as substrate at pH 8 at room temperature. The ATPase activity is not affected by the presence of DNA and does not require dimer formation.SUBUNIT Heterodimer of PMS2 and MLH1 (MutL alpha); this interaction is required for the stability of both partners (PubMed:35189042). Forms a ternary complex with MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3). Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with MTMR15/FAN1.INTERACTION The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the DNA mismatch repair MutL/HexB family.
crossReference
databaseName UniProt
dbId 61906
description
  • recommendedName: fullName evidence="33"Mismatch repair endonuclease PMS2 ecNumber evidence="3 25"3.1.-.- alternativeName: DNA mismatch repair protein PMS2 alternativeName: PMS1 protein homolog 2
displayName UniProt:P54278 PMS2
geneName
  • PMS2
  • PMSL2
identifier P54278
isSequenceChanged false
keyword
  • 3D-structure
  • Alternative splicing
  • ATP-binding
  • Disease variant
  • DNA damage
  • DNA repair
  • DNA-binding
  • Endonuclease
  • Hereditary nonpolyposis colorectal cancer
  • Hydrolase
  • Nuclease
  • Nucleotide-binding
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Tumor suppressor
moleculeType Protein
name
  • PMS2
otherIdentifier
  • 11743017_s_at
  • 11747521_s_at
  • 11761599_x_at
  • 17054923
  • 2015_s_at
  • 209805_PM_at
  • 209805_at
  • 221206_PM_at
  • 221206_at
  • 2989291
  • 2989293
  • 2989294
  • 2989295
  • 2989298
  • 2989299
  • 2989300
  • 2989301
  • 2989302
  • 2989303
  • 2989310
  • 2989311
  • 2989312
  • 2989313
  • 2989314
  • 2989315
  • 2989317
  • 2989318
  • 2989319
  • 2989320
  • 2989321
  • 2989322
  • 2989323
  • 2989324
  • 2989325
  • 3037133
  • 3037134
  • 3037135
  • 3037136
  • 3037137
  • 3037138
  • 3037139
  • 3037140
  • 3037141
  • 3037143
  • 3037144
  • 3037145
  • 3037146
  • 3037147
  • 3037153
  • 3037154
  • 3037155
  • 3037156
  • 3037158
  • 3037160
  • 3037161
  • 3037162
  • 3037163
  • 3037164
  • 3037165
  • 3037166
  • 3037168
  • 3037169
  • 3037170
  • 3037171
  • 3037173
  • 3037174
  • 3037175
  • 3037176
  • 3037181
  • 3037183
  • 3037184
  • 3037186
  • 38556_at
  • 526_s_at
  • 5395
  • 8138030
  • 90795_at
  • 91244_at
  • A_23_P6589
  • A_23_P93792
  • A_24_P889980
  • GO:0000166
  • GO:0002376
  • GO:0003677
  • GO:0003697
  • GO:0004518
  • GO:0004519
  • GO:0005515
  • GO:0005524
  • GO:0005634
  • GO:0005654
  • GO:0005829
  • GO:0006281
  • GO:0006298
  • GO:0006310
  • GO:0006974
  • GO:0009410
  • GO:0016446
  • GO:0016447
  • GO:0016787
  • GO:0016887
  • GO:0030983
  • GO:0032138
  • GO:0032300
  • GO:0032389
  • GO:0032407
  • GO:0048298
  • GO:0048304
  • GO:0140664
  • HMNXSV003047392
  • ILMN_1670300
  • ILMN_1677887
  • ILMN_1732171
  • ILMN_1808300
  • ILMN_2262203
  • ILMN_2329744
  • PH_hs_0027938
  • TC07001124.hg
  • TC07002131.hg
  • TC07002777.hg
  • U13696_s_at
  • g13375661_3p_at
  • g13375661_3p_x_at
  • g557469_3p_at
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • PMS2_HUMAN
  • B2R610
  • Q52LH6
  • Q5FBW9
  • Q5FBX1
  • Q5FBX2
  • Q75MR2
sequenceLength 862
stId uniprot:P54278
Cite Us!

AltStyle によって変換されたページ (->オリジナル) /