P40692

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession MLH1_HUMAN; P40692;
Entrez ID 4292
GenBank Protein ID NM_000249.3; NM_001167617.1; NM_001167618.1; NM_001167619.1; NM_001258271.1; NM_001258273.1; NM_001258274.1; XM_005265163.1; XM_005265164.1;
GenBank Nucleotide ID NP_000240.1; NP_001161089.1; NP_001161090.1; NP_001161091.1; NP_001245200.1; NP_001245202.1; NP_001245203.1; XP_005265220.1; XP_005265221.1;
Protein Name DNA mismatch repair protein Mlh1 (MutL protein homolog 1)
Gene Name MLH1; COCA2
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionHeterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH6) 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 cont(view all)
Sequence
(Fasta)
MSFVAGVIRR LDETVVNRIA AGEVIQRPAN AIKEMIENCL DAKSTSIQVI VKEGGLKLIQ 60
IQDNGTGIRK EDLDIVCERF TTSKLQSFED LASISTYGFR GEALASISHV AHVTITTKTA 120
DGKCAYRASY SDGKLKAPPK PCAGNQGTQI TVEDLFYNIA TRRKALKNPS EEYGKILEVV 180
GRYSVHNAGI SFSVKKQGET VADVRTLPNA STVDNIRSIF GNAVSRELIE IGCEDKTLAF 240
KMNGYISNAN YSVKKCIFLL FINHRLVEST SLRKAIETVY AAYLPKNTHP FLYLSLEISP 300
QNVDVNVHPT KHEVHFLHEE SILERVQQHI ESKLLGSNSS RMYFTQTLLP GLAGPSGEMV 360
KSTTSLTSSS TSGSSDKVYA HQMVRTDSRE QKLDAFLQPL SKPLSSQPQA IVTEDKTDIS 420
SGRARQQDEE MLELPAPAEV AAKNQSLEGD TTKGTSEMSE KRGPTSSNPR KRHREDSDVE 480
MVEDDSRKEM TAACTPRRRI INLTSVLSLQ EEINEQGHEV LREMLHNHSF VGCVNPQWAL 540
AQHQTKLYLL NTTKLSEELF YQILIYDFAN FGVLRLSEPA PLFDLAMLAL DSPESGWTEE 600
DGPKEGLAEY IVEFLKKKAE MLADYFSLEI DEEGNLIGLP LLIDNYVPPL EGLPIFILRL 660
ATEVNWDEEK ECFESLSKEC AMFYSIRKQY ISEESTLSGQ QSEVPGSIPN SWKWTVEHIV 720
YKALRSHILP PKHFTEDGNI LQLANLPDLY KVFERC 757

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1MethylationGastric cancerP24640104
[Reference]: The study was organized to investigate the anomalous methylation of genes NA1, RASSF1A, MLH1, N33, DAPK, the expression of genes Htert These changes can be used as additional markers both in diagnostic of cancer of stomach and dynamic monitoring of operated patients.
2MethylationColon cancer/carcinomaC23963522
[Reference]: two were identified to harbor an MLH1 mutation consistent with Lynch syndrome. Finally, 11 previously confirmed Lynch syndrome cases were analyzed for BRAF V600E mutation, and all of them were wild type. In conclusion, detection of BRAF V600E in colorectal cancer specimens by IHC is sensitive and specific and may help to identify Lynch syndrome patients.

※ Disease Cross-ref Annotation

DatabaseAnnotation
Cancer Gene Census
colorectal, endometrial, ovarian, CNS tumours colorectal, endometrial, ovarian, CNS hereditary non-polyposis colorectal cancer, Turcot syndrome
CTD (Curated)
(count: 10)
(view all)
MESH:D003110 ; Colonic Neoplasms
MESH:D015179 ; Colorectal Neoplasms
MESH:D003123 ; Colorectal Neoplasms, Hereditary Nonpolyposis
MESH:D008223 ; Lymphoma
MESH:D055847 ; Lynch Syndrome II
MESH:D055653 ; Muir-Torre Syndrome
DisGeNet (Curated)
(count: 67)
(view all)
C0000737; Abdominal Pain
C0003467; Anxiety
C0007102; Malignant tumor of colon
C0007117; Basal cell carcinoma
C0009375; Colonic Neoplasms
C0009404; Colorectal Neoplasms
HGMD
(count: 713)
(view all)
CP053740; Colorectal cancer, non-polyposis; Complex rearrangements
CP064923; Colorectal cancer ?; Complex rearrangements
CP064924; Colorectal cancer, non-polyposis; Complex rearrangements
CP065943; Colorectal cancer; Complex rearrangements
CP035450; Colorectal cancer, non-polyposis; Complex rearrangements
CP061621; Colorectal cancer, non-polyposis; Complex rearrangements
GWASdb
(count: 2)
rs1800734; Drug response to Dacarbazine; Null
rs1800734; Drug response to Procarbazine; Null

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 22)
(view all)
183       ILEVVGRYSVHNAGI     dbPAF
184       LEVVGRYSVHNAGIS     dbPAF
212       RTLPNASTVDNIRSI     dbPAF
269       INHRLVESTSLRKAI     dbPAF
288       AAYLPKNTHPFLYLS     dbPAF
293       KNTHPFLYLSLEISP     dbPAF
Acetylation
(count: 6)
195       AGISFSVKKQGETVA     PLMD
236       IEIGCEDKTLAFKMN     PLMD
377       STSGSSDKVYAHQMV     PLMD
402       AFLQPLSKPLSSQPQ     PLMD
443       APAEVAAKNQSLEGD     PLMD
461       GTSEMSEKRGPTSSN     PLMD
Ubiquitination
(count: 17)
(view all)
136       SYSDGKLKAPPKPCA     PLMD
140       GKLKAPPKPCAGNQG     PLMD
164       YNIATRRKALKNPSE     PLMD
167       ATRRKALKNPSEEYG     PLMD
175       NPSEEYGKILEVVGR     PLMD
196       GISFSVKKQGETVAD     PLMD
Sumoylation
(count: 2)
392       RTDSREQKLDAFLQP     PLMD
416       QAIVTEDKTDISSGR     PLMD
Glycation
(count: 1)
461       GTSEMSEKRGPTSSN     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource
C9JKC4P40692IntAct
E9PFC7P40692HPRD
O00217P40692IntAct
O00299P40692IntAct
O15438P40692IntAct
O15457P40692HPRD
O15484P40692IntAct
O43688P40692IntAct
O43929P40692IntAct
O60645P40692IntAct
O60888P40692IntAct
O75152P40692HPRD; IntAct; MINT
O75369P40692IntAct
O94941P40692HPRD; IntAct
O95166P40692IntAct
O95243P40692HPRD
O95831P40692IntAct
O95870P40692IntAct
O95994P40692IntAct
P00966P40692IntAct
P01106P40692HPRD
P01834P40692IntAct
P04075P40692IntAct
P06331P40692IntAct
P07355P40692IntAct
P07741P40692IntAct
P07858P40692IntAct
P08133P40692IntAct
P09211P40692IntAct
P10398P40692IntAct
P10599P40692IntAct
P12277P40692IntAct
P13639P40692IntAct
P15336P40692IntAct
P15880P40692IntAct
P17661P40692IntAct
P26641P40692IntAct
P36406P40692IntAct
P36955P40692IntAct
P37058P40692IntAct
P40692P41222IntAct
P40692P42574HPRD
P40692P46782IntAct
P40692P50748BioGRID
P40692P52564IntAct
P40692P53621IntAct
P40692P54132HPRD
P40692P54277HPRD
P40692P54278HPRD; DIP; IntAct; MINT;DIP
P40692P54727IntAct
P40692P56470IntAct
P40692P60660IntAct
P40692P61619IntAct
P40692P62249IntAct
P40692P62328IntAct
P40692P63010IntAct; MINT;HPRD
P40692P63261IntAct
P40692P63267IntAct
P40692Q01995IntAct
P40692Q02817IntAct
P40692Q07065IntAct
P40692Q0PNE2IntAct
P40692Q12974IntAct
P40692Q13228IntAct
P40692Q13501IntAct
P40692Q13813IntAct
P40692Q14134HPRD; IntAct; MINT
P40692Q14315IntAct
P40692Q15080IntAct
P40692Q15233IntAct
P40692Q16658IntAct
P40692Q5T0D9IntAct
P40692Q7L8L6MINT
P40692Q7Z7L7IntAct
P40692Q92597IntAct
P40692Q969P5IntAct
P40692Q96NE9IntAct; MINT;HPRD
P40692Q99638HPRD
P40692Q99757IntAct
P40692Q99798IntAct
P40692Q9BV35IntAct
P40692Q9BV40IntAct
P40692Q9BX63MINT
P40692Q9BY44IntAct
P40692Q9H0J9IntAct
P40692Q9H0S4IntAct
P40692Q9H9S4IntAct
P40692Q9HD43IntAct
P40692Q9NUN7IntAct
P40692Q9NV92IntAct
P40692Q9NVD7IntAct
P40692Q9P2E9IntAct
P40692Q9UGK3IntAct
P40692Q9UHC1HPRD
P40692Q9UHF4IntAct
P40692Q9UHV5IntAct
P40692Q9UID3IntAct
P40692Q9UQ84HPRD
P40692Q9Y6R7IntAct