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Q9UHC1

- MLH3_HUMAN

UniProt

Q9UHC1 - MLH3_HUMAN

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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

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. satellite DNA binding Source: ProtInc
  7. 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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ9UHC1.
CleanExiHS_MLH3.
ExpressionAtlasiQ9UHC1. baseline and differential.
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.
GeneTreeiENSGT00550000074903.
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_C.
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

        10         20         30         40         50
MIKCLSVEVQ AKLRSGLAIS SLGQCVEELA LNSIDAEAKC VAVRVNMETF
60 70 80 90 100
QVQVIDNGFG MGSDDVEKVG NRYFTSKCHS VQDLENPRFY GFRGEALANI
110 120 130 140 150
ADMASAVEIS SKKNRTMKTF VKLFQSGKAL KACEADVTRA SAGTTVTVYN
160 170 180 190 200
LFYQLPVRRK CMDPRLEFEK VRQRIEALSL MHPSISFSLR NDVSGSMVLQ
210 220 230 240 250
LPKTKDVCSR FCQIYGLGKS QKLREISFKY KEFELSGYIS SEAHYNKNMQ
260 270 280 290 300
FLFVNKRLVL RTKLHKLIDF LLRKESIICK PKNGPTSRQM NSSLRHRSTP
310 320 330 340 350
ELYGIYVINV QCQFCEYDVC MEPAKTLIEF QNWDTLLFCI QEGVKMFLKQ
360 370 380 390 400
EKLFVELSGE DIKEFSEDNG FSLFDATLQK RVTSDERSNF QEACNNILDS
410 420 430 440 450
YEMFNLQSKA VKRKTTAENV NTQSSRDSEA TRKNTNDAFL YIYESGGPGH
460 470 480 490 500
SKMTEPSLQN KDSSCSESKM LEQETIVASE AGENEKHKKS FLEHSSLENP
510 520 530 540 550
CGTSLEMFLS PFQTPCHFEE SGQDLEIWKE STTVNGMAAN ILKNNRIQNQ
560 570 580 590 600
PKRFKDATEV GCQPLPFATT LWGVHSAQTE KEKKKESSNC GRRNVFSYGR
610 620 630 640 650
VKLCSTGFIT HVVQNEKTKS TETEHSFKNY VRPGPTRAQE TFGNRTRHSV
660 670 680 690 700
ETPDIKDLAS TLSKESGQLP NKKNCRTNIS YGLENEPTAT YTMFSAFQEG
710 720 730 740 750
SKKSQTDCIL SDTSPSFPWY RHVSNDSRKT DKLIGFSKPI VRKKLSLSSQ
760 770 780 790 800
LGSLEKFKRQ YGKVENPLDT EVEESNGVTT NLSLQVEPDI LLKDKNRLEN
810 820 830 840 850
SDVCKITTME HSDSDSSCQP ASHILNSEKF PFSKDEDCLE QQMPSLRESP
860 870 880 890 900
MTLKELSLFN RKPLDLEKSS ESLASKLSRL KGSERETQTM GMMSRFNELP
910 920 930 940 950
NSDSSRKDSK LCSVLTQDFC MLFNNKHEKT ENGVIPTSDS ATQDNSFNKN
960 970 980 990 1000
SKTHSNSNTT ENCVISETPL VLPYNNSKVT GKDSDVLIRA SEQQIGSLDS
1010 1020 1030 1040 1050
PSGMLMNPVE DATGDQNGIC FQSEESKARA CSETEESNTC CSDWQRHFDV
1060 1070 1080 1090 1100
ALGRMVYVNK MTGLSTFIAP TEDIQAACTK DLTTVAVDVV LENGSQYRCQ
1110 1120 1130 1140 1150
PFRSDLVLPF LPRARAERTV MRQDNRDTVD DTVSSESLQS LFSEWDNPVF
1160 1170 1180 1190 1200
ARYPEVAVDV SSGQAESLAV KIHNILYPYR FTKGMIHSMQ VLQQVDNKFI
1210 1220 1230 1240 1250
ACLMSTKTEE NGEAGGNLLV LVDQHAAHER IRLEQLIIDS YEKQQAQGSG
1260 1270 1280 1290 1300
RKKLLSSTLI PPLEITVTEE QRRLLWCYHK NLEDLGLEFV FPDTSDSLVL
1310 1320 1330 1340 1350
VGKVPLCFVE REANELRRGR STVTKSIVEE FIREQLELLQ TTGGIQGTLP
1360 1370 1380 1390 1400
LTVQKVLASQ ACHGAIKFND GLSLQESCRL IEALSSCQLP FQCAHGRPSM
1410 1420 1430 1440 1450
LPLADIDHLE QEKQIKPNLT KLRKMAQAWR LFGKAECDTR QSLQQSMPPC

EPP
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]
ENST00000380968; ENSP00000370355; ENSG00000119684. [Q9UHC1-2]
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 ]
ENST00000380968 ; ENSP00000370355 ; ENSG00000119684 . [Q9UHC1-2 ]
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.
GeneTreei ENSGT00550000074903.
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

Bgeei Q9UHC1.
CleanExi HS_MLH3.
ExpressionAtlasi Q9UHC1. baseline and differential.
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_C.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 133 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