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Q9UHC1

- MLH3_HUMAN

UniProt

Q9UHC1 - MLH3_HUMAN

Protein

DNA mismatch repair protein Mlh3

Gene

MLH3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 3 (11 Jan 2011)
      Previous versions | rss
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    Functioni

    Probably involved in the repair of mismatches in DNA.

    GO - Molecular functioni

    1. ATPase activity Source: RefGenome
    2. ATP binding Source: InterPro
    3. centromeric DNA binding Source: Ensembl
    4. chromatin binding Source: Ensembl
    5. mismatched DNA binding Source: InterPro
    6. protein binding Source: UniProtKB
    7. satellite DNA binding Source: ProtInc
    8. single-stranded DNA binding Source: RefGenome

    GO - Biological processi

    1. ATP catabolic process Source: GOC
    2. female meiosis I Source: Ensembl
    3. male meiosis Source: Ensembl
    4. mismatch repair Source: UniProtKB
    5. protein localization Source: Ensembl
    6. reciprocal meiotic recombination Source: UniProtKB
    7. synaptonemal complex assembly Source: Ensembl

    Keywords - Biological processi

    DNA damage, DNA repair

    Enzyme and pathway databases

    ReactomeiREACT_27271. Meiotic recombination.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DNA mismatch repair protein Mlh3
    Alternative name(s):
    MutL protein homolog 3
    Gene namesi
    Name:MLH3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:7128. MLH3.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. chiasma Source: RefGenome
    2. male germ cell nucleus Source: Ensembl
    3. mismatch repair complex Source: RefGenome
    4. nucleus Source: ProtInc
    5. synaptonemal complex Source: RefGenome

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti24 – 241Q → E in HNPCC7. 1 Publication
    Corresponds to variant rs28937870 [ dbSNP | Ensembl ].
    VAR_012946
    Natural varianti499 – 4991N → S in HNPCC7. 1 Publication
    Corresponds to variant rs28937871 [ dbSNP | Ensembl ].
    VAR_012947
    Natural varianti624 – 6241E → Q in HNPCC7. 2 Publications
    Corresponds to variant rs28756986 [ dbSNP | Ensembl ].
    VAR_012948
    Natural varianti647 – 6471R → C in HNPCC7. 2 Publications
    Corresponds to variant rs28756987 [ dbSNP | Ensembl ].
    VAR_012949
    Natural varianti817 – 8171S → G in HNPCC7. 1 Publication
    VAR_012950
    Natural varianti981 – 9811G → S in HNPCC7. 1 Publication
    VAR_012951
    Natural varianti1007 – 10071N → S in HNPCC7. 1 Publication
    VAR_012952
    Natural varianti1394 – 13941A → T in HNPCC7. 1 Publication
    VAR_012953
    Natural varianti1451 – 14511E → K in HNPCC7. 1 Publication
    Corresponds to variant rs28939071 [ dbSNP | Ensembl ].
    VAR_012954
    Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation, Hereditary nonpolyposis colorectal cancer

    Organism-specific databases

    MIMi114500. phenotype.
    614385. phenotype.
    Orphaneti144. Hereditary nonpolyposis colon cancer.
    PharmGKBiPA30845.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 14531453DNA mismatch repair protein Mlh3PRO_0000178003Add
    BLAST

    Proteomic databases

    MaxQBiQ9UHC1.
    PaxDbiQ9UHC1.
    PRIDEiQ9UHC1.

    PTM databases

    PhosphoSiteiQ9UHC1.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiQ9UHC1.
    BgeeiQ9UHC1.
    CleanExiHS_MLH3.
    GenevestigatoriQ9UHC1.

    Interactioni

    Subunit structurei

    Heterodimer of MLH1 and MLH3. Interacts with MTMR15/FAN1.2 Publications

    Protein-protein interaction databases

    BioGridi117961. 6 interactions.
    IntActiQ9UHC1. 2 interactions.
    STRINGi9606.ENSP00000348020.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UHC1.
    SMRiQ9UHC1. Positions 1-269, 1219-1409.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0323.
    HOGENOMiHOG000140944.
    HOVERGENiHBG006375.
    InParanoidiQ9UHC1.
    KOiK08739.
    OMAiHGAIKFN.
    OrthoDBiEOG7B8S4F.
    PhylomeDBiQ9UHC1.
    TreeFamiTF329597.

    Family and domain databases

    Gene3Di3.30.230.10. 1 hit.
    3.30.565.10. 1 hit.
    InterProiIPR013507. DNA_mismatch_repair_C.
    IPR014762. DNA_mismatch_repair_CS.
    IPR003594. HATPase_ATP-bd.
    IPR028830. Mlh3.
    IPR014790. MutL_C.
    IPR020568. Ribosomal_S5_D2-typ_fold.
    IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
    [Graphical view]
    PANTHERiPTHR10073:SF7. PTHR10073:SF7. 1 hit.
    PfamiPF01119. DNA_mis_repair. 1 hit.
    PF02518. HATPase_c. 1 hit.
    PF08676. MutL_C. 1 hit.
    [Graphical view]
    SMARTiSM00387. HATPase_c. 1 hit.
    SM00853. MutL_C. 1 hit.
    [Graphical view]
    SUPFAMiSSF54211. SSF54211. 1 hit.
    SSF55874. SSF55874. 1 hit.
    PROSITEiPS00058. DNA_MISMATCH_REPAIR_1. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UHC1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MIKCLSVEVQ AKLRSGLAIS SLGQCVEELA LNSIDAEAKC VAVRVNMETF     50
    QVQVIDNGFG MGSDDVEKVG NRYFTSKCHS VQDLENPRFY GFRGEALANI 100
    ADMASAVEIS SKKNRTMKTF VKLFQSGKAL KACEADVTRA SAGTTVTVYN 150
    LFYQLPVRRK CMDPRLEFEK VRQRIEALSL MHPSISFSLR NDVSGSMVLQ 200
    LPKTKDVCSR FCQIYGLGKS QKLREISFKY KEFELSGYIS SEAHYNKNMQ 250
    FLFVNKRLVL RTKLHKLIDF LLRKESIICK PKNGPTSRQM NSSLRHRSTP 300
    ELYGIYVINV QCQFCEYDVC MEPAKTLIEF QNWDTLLFCI QEGVKMFLKQ 350
    EKLFVELSGE DIKEFSEDNG FSLFDATLQK RVTSDERSNF QEACNNILDS 400
    YEMFNLQSKA VKRKTTAENV NTQSSRDSEA TRKNTNDAFL YIYESGGPGH 450
    SKMTEPSLQN KDSSCSESKM LEQETIVASE AGENEKHKKS FLEHSSLENP 500
    CGTSLEMFLS PFQTPCHFEE SGQDLEIWKE STTVNGMAAN ILKNNRIQNQ 550
    PKRFKDATEV GCQPLPFATT LWGVHSAQTE KEKKKESSNC GRRNVFSYGR 600
    VKLCSTGFIT HVVQNEKTKS TETEHSFKNY VRPGPTRAQE TFGNRTRHSV 650
    ETPDIKDLAS TLSKESGQLP NKKNCRTNIS YGLENEPTAT YTMFSAFQEG 700
    SKKSQTDCIL SDTSPSFPWY RHVSNDSRKT DKLIGFSKPI VRKKLSLSSQ 750
    LGSLEKFKRQ YGKVENPLDT EVEESNGVTT NLSLQVEPDI LLKDKNRLEN 800
    SDVCKITTME HSDSDSSCQP ASHILNSEKF PFSKDEDCLE QQMPSLRESP 850
    MTLKELSLFN RKPLDLEKSS ESLASKLSRL KGSERETQTM GMMSRFNELP 900
    NSDSSRKDSK LCSVLTQDFC MLFNNKHEKT ENGVIPTSDS ATQDNSFNKN 950
    SKTHSNSNTT ENCVISETPL VLPYNNSKVT GKDSDVLIRA SEQQIGSLDS 1000
    PSGMLMNPVE DATGDQNGIC FQSEESKARA CSETEESNTC CSDWQRHFDV 1050
    ALGRMVYVNK MTGLSTFIAP TEDIQAACTK DLTTVAVDVV LENGSQYRCQ 1100
    PFRSDLVLPF LPRARAERTV MRQDNRDTVD DTVSSESLQS LFSEWDNPVF 1150
    ARYPEVAVDV SSGQAESLAV KIHNILYPYR FTKGMIHSMQ VLQQVDNKFI 1200
    ACLMSTKTEE NGEAGGNLLV LVDQHAAHER IRLEQLIIDS YEKQQAQGSG 1250
    RKKLLSSTLI PPLEITVTEE QRRLLWCYHK NLEDLGLEFV FPDTSDSLVL 1300
    VGKVPLCFVE REANELRRGR STVTKSIVEE FIREQLELLQ TTGGIQGTLP 1350
    LTVQKVLASQ ACHGAIKFND GLSLQESCRL IEALSSCQLP FQCAHGRPSM 1400
    LPLADIDHLE QEKQIKPNLT KLRKMAQAWR LFGKAECDTR QSLQQSMPPC 1450
    EPP 1453
    Length:1,453
    Mass (Da):163,711
    Last modified:January 11, 2011 - v3
    Checksum:i3D063427457DB033
    GO
    Isoform 2 (identifier: Q9UHC1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1215-1238: Missing.

    Show »
    Length:1,429
    Mass (Da):161,021
    Checksum:iD65538977F9D7AA4
    GO

    Sequence cautioni

    The sequence AAC42005.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the N-terminal part.
    The sequence AAC42005.1 differs from that shown. Reason: Frameshift at several positions.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti24 – 241Q → E in HNPCC7. 1 Publication
    Corresponds to variant rs28937870 [ dbSNP | Ensembl ].
    VAR_012946
    Natural varianti93 – 931R → G.1 Publication
    Corresponds to variant rs28756978 [ dbSNP | Ensembl ].
    VAR_023338
    Natural varianti120 – 1201F → S.1 Publication
    Corresponds to variant rs28756979 [ dbSNP | Ensembl ].
    VAR_023339
    Natural varianti231 – 2311K → Q.1 Publication
    Corresponds to variant rs28756981 [ dbSNP | Ensembl ].
    VAR_023340
    Natural varianti420 – 4201V → I.1 Publication
    Corresponds to variant rs28756982 [ dbSNP | Ensembl ].
    VAR_023341
    Natural varianti492 – 4921L → V.1 Publication
    Corresponds to variant rs28756983 [ dbSNP | Ensembl ].
    VAR_023342
    Natural varianti494 – 4941H → R.
    VAR_010790
    Natural varianti499 – 4991N → S in HNPCC7. 1 Publication
    Corresponds to variant rs28937871 [ dbSNP | Ensembl ].
    VAR_012947
    Natural varianti600 – 6001R → Q.1 Publication
    Corresponds to variant rs28756984 [ dbSNP | Ensembl ].
    VAR_023343
    Natural varianti606 – 6061T → P.1 Publication
    Corresponds to variant rs28756985 [ dbSNP | Ensembl ].
    VAR_023344
    Natural varianti624 – 6241E → Q in HNPCC7. 2 Publications
    Corresponds to variant rs28756986 [ dbSNP | Ensembl ].
    VAR_012948
    Natural varianti647 – 6471R → C in HNPCC7. 2 Publications
    Corresponds to variant rs28756987 [ dbSNP | Ensembl ].
    VAR_012949
    Natural varianti720 – 7201Y → C.1 Publication
    Corresponds to variant rs28756988 [ dbSNP | Ensembl ].
    VAR_023345
    Natural varianti723 – 7231V → I.1 Publication
    Corresponds to variant rs28756989 [ dbSNP | Ensembl ].
    VAR_023346
    Natural varianti741 – 7411V → F.1 Publication
    Corresponds to variant rs28756990 [ dbSNP | Ensembl ].
    VAR_023347
    Natural varianti797 – 7971R → H.1 Publication
    Corresponds to variant rs28756991 [ dbSNP | Ensembl ].
    VAR_023348
    Natural varianti817 – 8171S → G in HNPCC7. 1 Publication
    VAR_012950
    Natural varianti826 – 8261N → D.3 Publications
    Corresponds to variant rs175081 [ dbSNP | Ensembl ].
    VAR_036781
    Natural varianti844 – 8441P → L.2 Publications
    Corresponds to variant rs175080 [ dbSNP | Ensembl ].
    VAR_023349
    Natural varianti845 – 8451S → G.1 Publication
    Corresponds to variant rs28756992 [ dbSNP | Ensembl ].
    VAR_023350
    Natural varianti942 – 9421T → I.1 Publication
    Corresponds to variant rs17102999 [ dbSNP | Ensembl ].
    VAR_023351
    Natural varianti966 – 9661S → P.1 Publication
    Corresponds to variant rs17782839 [ dbSNP | Ensembl ].
    VAR_023352
    Natural varianti981 – 9811G → S in HNPCC7. 1 Publication
    VAR_012951
    Natural varianti1007 – 10071N → S in HNPCC7. 1 Publication
    VAR_012952
    Natural varianti1073 – 10731D → N.1 Publication
    Corresponds to variant rs28756993 [ dbSNP | Ensembl ].
    VAR_023353
    Natural varianti1105 – 11051D → E.1 Publication
    Corresponds to variant rs28757008 [ dbSNP | Ensembl ].
    VAR_023354
    Natural varianti1163 – 11631G → D.1 Publication
    Corresponds to variant rs28757011 [ dbSNP | Ensembl ].
    VAR_023355
    Natural varianti1319 – 13191G → R.1 Publication
    VAR_023356
    Natural varianti1394 – 13941A → T in HNPCC7. 1 Publication
    VAR_012953
    Natural varianti1451 – 14511E → K in HNPCC7. 1 Publication
    Corresponds to variant rs28939071 [ dbSNP | Ensembl ].
    VAR_012954

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1215 – 123824Missing in isoform 2. CuratedVSP_003290Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF195657 mRNA. Translation: AAF23904.1.
    AF195658 Genomic DNA. Translation: AAF23905.1.
    AB039667 mRNA. Translation: BAA92353.1.
    AY963685 Genomic DNA. Translation: AAX59030.1.
    AL049780 Genomic DNA. No translation available.
    L40399 mRNA. Translation: AAC42005.1. Sequence problems.
    CCDSiCCDS32123.1. [Q9UHC1-1]
    CCDS9837.1. [Q9UHC1-2]
    RefSeqiNP_001035197.1. NM_001040108.1. [Q9UHC1-1]
    XP_005267588.1. XM_005267531.2. [Q9UHC1-1]
    XP_006720179.1. XM_006720116.1. [Q9UHC1-1]
    UniGeneiHs.436650.

    Genome annotation databases

    EnsembliENST00000355774; ENSP00000348020; ENSG00000119684. [Q9UHC1-1]
    ENST00000556740; ENSP00000452316; ENSG00000119684. [Q9UHC1-1]
    GeneIDi27030.
    KEGGihsa:27030.
    UCSCiuc001xrd.1. human. [Q9UHC1-1]
    uc001xre.1. human. [Q9UHC1-2]

    Polymorphism databases

    DMDMi317373417.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF195657 mRNA. Translation: AAF23904.1 .
    AF195658 Genomic DNA. Translation: AAF23905.1 .
    AB039667 mRNA. Translation: BAA92353.1 .
    AY963685 Genomic DNA. Translation: AAX59030.1 .
    AL049780 Genomic DNA. No translation available.
    L40399 mRNA. Translation: AAC42005.1 . Sequence problems.
    CCDSi CCDS32123.1. [Q9UHC1-1 ]
    CCDS9837.1. [Q9UHC1-2 ]
    RefSeqi NP_001035197.1. NM_001040108.1. [Q9UHC1-1 ]
    XP_005267588.1. XM_005267531.2. [Q9UHC1-1 ]
    XP_006720179.1. XM_006720116.1. [Q9UHC1-1 ]
    UniGenei Hs.436650.

    3D structure databases

    ProteinModelPortali Q9UHC1.
    SMRi Q9UHC1. Positions 1-269, 1219-1409.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117961. 6 interactions.
    IntActi Q9UHC1. 2 interactions.
    STRINGi 9606.ENSP00000348020.

    PTM databases

    PhosphoSitei Q9UHC1.

    Polymorphism databases

    DMDMi 317373417.

    Proteomic databases

    MaxQBi Q9UHC1.
    PaxDbi Q9UHC1.
    PRIDEi Q9UHC1.

    Protocols and materials databases

    DNASUi 27030.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000355774 ; ENSP00000348020 ; ENSG00000119684 . [Q9UHC1-1 ]
    ENST00000556740 ; ENSP00000452316 ; ENSG00000119684 . [Q9UHC1-1 ]
    GeneIDi 27030.
    KEGGi hsa:27030.
    UCSCi uc001xrd.1. human. [Q9UHC1-1 ]
    uc001xre.1. human. [Q9UHC1-2 ]

    Organism-specific databases

    CTDi 27030.
    GeneCardsi GC14M075481.
    GeneReviewsi MLH3.
    HGNCi HGNC:7128. MLH3.
    MIMi 114500. phenotype.
    604395. gene.
    614385. phenotype.
    neXtProti NX_Q9UHC1.
    Orphaneti 144. Hereditary nonpolyposis colon cancer.
    PharmGKBi PA30845.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0323.
    HOGENOMi HOG000140944.
    HOVERGENi HBG006375.
    InParanoidi Q9UHC1.
    KOi K08739.
    OMAi HGAIKFN.
    OrthoDBi EOG7B8S4F.
    PhylomeDBi Q9UHC1.
    TreeFami TF329597.

    Enzyme and pathway databases

    Reactomei REACT_27271. Meiotic recombination.

    Miscellaneous databases

    ChiTaRSi MLH3. human.
    GeneWikii MLH3.
    GenomeRNAii 27030.
    NextBioi 49558.
    PROi Q9UHC1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UHC1.
    Bgeei Q9UHC1.
    CleanExi HS_MLH3.
    Genevestigatori Q9UHC1.

    Family and domain databases

    Gene3Di 3.30.230.10. 1 hit.
    3.30.565.10. 1 hit.
    InterProi IPR013507. DNA_mismatch_repair_C.
    IPR014762. DNA_mismatch_repair_CS.
    IPR003594. HATPase_ATP-bd.
    IPR028830. Mlh3.
    IPR014790. MutL_C.
    IPR020568. Ribosomal_S5_D2-typ_fold.
    IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
    [Graphical view ]
    PANTHERi PTHR10073:SF7. PTHR10073:SF7. 1 hit.
    Pfami PF01119. DNA_mis_repair. 1 hit.
    PF02518. HATPase_c. 1 hit.
    PF08676. MutL_C. 1 hit.
    [Graphical view ]
    SMARTi SM00387. HATPase_c. 1 hit.
    SM00853. MutL_C. 1 hit.
    [Graphical view ]
    SUPFAMi SSF54211. SSF54211. 1 hit.
    SSF55874. SSF55874. 1 hit.
    PROSITEi PS00058. DNA_MISMATCH_REPAIR_1. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability."
      Lipkin S.M., Wang V., Jacoby R., Banerjee-Basu S., Baxevanis A.D., Lynch H.T., Elliott R.M., Collins F.S.
      Nat. Genet. 24:27-35(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING, VARIANTS ASP-826 AND LEU-844.
    2. "The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2."
      Kondo E., Horii A., Fukushige S.
      Nucleic Acids Res. 29:1695-1702(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH MLH1, VARIANT ASP-826.
    3. NIEHS SNPs program
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-93; SER-120; GLN-231; ILE-420; VAL-492; GLN-600; PRO-606; GLN-624; CYS-647; CYS-720; ILE-723; PHE-741; HIS-797; ASP-826; LEU-844; GLY-845; ILE-942; PRO-966; ASN-1073; GLU-1105; ASP-1163 AND ARG-1319.
    4. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1189-1453.
      Tissue: Brain.
    6. "Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: evidence for somatic mutation in colorectal cancers."
      Lipkin S.M., Wang V., Stoler D.L., Anderson G.R., Kirsch I., Hadley D., Lynch H.T., Collins F.S.
      Hum. Mutat. 17:389-396(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN SOMATIC COLORECTAL CANCER.
    7. "A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair."
      Smogorzewska A., Desetty R., Saito T.T., Schlabach M., Lach F.P., Sowa M.E., Clark A.B., Kunkel T.A., Harper J.W., Colaiacovo M.P., Elledge S.J.
      Mol. Cell 39:36-47(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MTMR15.
    8. Cited for: VARIANTS HNPCC7 GLU-24; SER-499; GLN-624; CYS-647; GLY-817; SER-981; SER-1007; THR-1394 AND LYS-1451.

    Entry informationi

    Entry nameiMLH3_HUMAN
    AccessioniPrimary (citable) accession number: Q9UHC1
    Secondary accession number(s): P49751
    , Q56DK9, Q9P292, Q9UHC0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: January 11, 2011
    Last modified: October 1, 2014
    This is version 132 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3