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Entry version 169 (08 May 2019)
Sequence version 3 (11 Jan 2011)
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Protein

DNA mismatch repair protein Mlh3

Gene

MLH3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Probably involved in the repair of mismatches in DNA.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDNA damage, DNA repair

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-912446 Meiotic recombination

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
DNA mismatch repair protein Mlh3
Alternative name(s):
MutL protein homolog 3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MLH3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7128 MLH3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604395 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9UHC1

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hereditary non-polyposis colorectal cancer 7 (HNPCC7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01294624Q → E in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs28937870EnsemblClinVar.1
Natural variantiVAR_012947499N → S in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs28937871EnsemblClinVar.1
Natural variantiVAR_012948624E → Q in HNPCC7. 2 PublicationsCorresponds to variant dbSNP:rs28756986EnsemblClinVar.1
Natural variantiVAR_012949647R → C in HNPCC7. 2 PublicationsCorresponds to variant dbSNP:rs28756987EnsemblClinVar.1
Natural variantiVAR_012950817S → G in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs143278116EnsemblClinVar.1
Natural variantiVAR_012951981G → S in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs377337763EnsemblClinVar.1
Natural variantiVAR_0129521007N → S in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs776639203EnsemblClinVar.1
Natural variantiVAR_0129531394A → T in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs138006166EnsemblClinVar.1
Natural variantiVAR_0129541451E → K in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs28939071EnsemblClinVar.1
Colorectal cancer (CRC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Hereditary nonpolyposis colorectal cancer

Organism-specific databases

DisGeNET

More...
DisGeNETi
27030

MalaCards human disease database

More...
MalaCardsi
MLH3
MIMi114500 phenotype
614385 phenotype

Open Targets

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OpenTargetsi
ENSG00000119684

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
144 Lynch syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA30845

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MLH3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373417

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001780031 – 1453DNA mismatch repair protein Mlh3Add BLAST1453

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UHC1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UHC1

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9UHC1

PeptideAtlas

More...
PeptideAtlasi
Q9UHC1

PRoteomics IDEntifications database

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PRIDEi
Q9UHC1

ProteomicsDB human proteome resource

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ProteomicsDBi
84305
84306 [Q9UHC1-2]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q9UHC1

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UHC1

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9UHC1

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000119684 Expressed in 217 organ(s), highest expression level in lung

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UHC1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UHC1 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA060570

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer of MLH1 and MLH3.

Interacts with MTMR15/FAN1.

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117961, 7 interactors

Protein interaction database and analysis system

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IntActi
Q9UHC1, 42 interactors

Molecular INTeraction database

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MINTi
Q9UHC1

STRING: functional protein association networks

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STRINGi
9606.ENSP00000348020

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9UHC1

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1977 Eukaryota
COG0323 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00800000124176

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000140944

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UHC1

KEGG Orthology (KO)

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KOi
K08739

Identification of Orthologs from Complete Genome Data

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OMAi
MKGSERE

Database of Orthologous Groups

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OrthoDBi
735423at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UHC1

TreeFam database of animal gene trees

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TreeFami
TF329597

Family and domain databases

Conserved Domains Database

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CDDi
cd00075 HATPase_c, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.30.42.20, 1 hit
3.30.1370.100, 1 hit
3.30.230.10, 1 hit
3.30.565.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR014762 DNA_mismatch_repair_CS
IPR013507 DNA_mismatch_S5_2-like
IPR003594 HATPase_C
IPR036890 HATPase_C_sf
IPR028830 Mlh3
IPR038973 MutL/Mlh/Pms
IPR014790 MutL_C
IPR042120 MutL_C_dimsub
IPR042121 MutL_C_regsub
IPR037198 MutL_C_sf
IPR020568 Ribosomal_S5_D2-typ_fold
IPR014721 Ribosomal_S5_D2-typ_fold_subgr

The PANTHER Classification System

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PANTHERi
PTHR10073 PTHR10073, 1 hit
PTHR10073:SF47 PTHR10073:SF47, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01119 DNA_mis_repair, 1 hit
PF08676 MutL_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01340 DNA_mis_repair, 1 hit
SM00853 MutL_C, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF118116 SSF118116, 1 hit
SSF54211 SSF54211, 1 hit
SSF55874 SSF55874, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00058 DNA_MISMATCH_REPAIR_1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V419G3V419_HUMAN
DNA mismatch repair protein Mlh3
MLH3
1,275Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJB4H0YJB4_HUMAN
DNA mismatch repair protein Mlh3
MLH3
477Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V384G3V384_HUMAN
DNA mismatch repair protein Mlh3
MLH3
106Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V3E0G3V3E0_HUMAN
DNA mismatch repair protein Mlh3
MLH3
162Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJA3H0YJA3_HUMAN
DNA mismatch repair protein Mlh3
MLH3
124Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJ15H0YJ15_HUMAN
DNA mismatch repair protein Mlh3
MLH3
199Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJU3H0YJU3_HUMAN
DNA mismatch repair protein Mlh3
MLH3
107Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01294624Q → E in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs28937870EnsemblClinVar.1
Natural variantiVAR_02333893R → G1 PublicationCorresponds to variant dbSNP:rs28756978EnsemblClinVar.1
Natural variantiVAR_023339120F → S1 PublicationCorresponds to variant dbSNP:rs28756979EnsemblClinVar.1
Natural variantiVAR_023340231K → Q1 PublicationCorresponds to variant dbSNP:rs28756981EnsemblClinVar.1
Natural variantiVAR_023341420V → I1 PublicationCorresponds to variant dbSNP:rs28756982EnsemblClinVar.1
Natural variantiVAR_023342492L → V1 PublicationCorresponds to variant dbSNP:rs28756983Ensembl.1
Natural variantiVAR_010790494H → R. Corresponds to variant dbSNP:rs760778201Ensembl.1
Natural variantiVAR_012947499N → S in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs28937871EnsemblClinVar.1
Natural variantiVAR_023343600R → Q1 PublicationCorresponds to variant dbSNP:rs28756984EnsemblClinVar.1
Natural variantiVAR_023344606T → P1 PublicationCorresponds to variant dbSNP:rs28756985Ensembl.1
Natural variantiVAR_012948624E → Q in HNPCC7. 2 PublicationsCorresponds to variant dbSNP:rs28756986EnsemblClinVar.1
Natural variantiVAR_012949647R → C in HNPCC7. 2 PublicationsCorresponds to variant dbSNP:rs28756987EnsemblClinVar.1
Natural variantiVAR_023345720Y → C1 PublicationCorresponds to variant dbSNP:rs28756988EnsemblClinVar.1
Natural variantiVAR_023346723V → I1 PublicationCorresponds to variant dbSNP:rs28756989EnsemblClinVar.1
Natural variantiVAR_023347741V → F1 PublicationCorresponds to variant dbSNP:rs28756990EnsemblClinVar.1
Natural variantiVAR_023348797R → H1 PublicationCorresponds to variant dbSNP:rs28756991EnsemblClinVar.1
Natural variantiVAR_012950817S → G in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs143278116EnsemblClinVar.1
Natural variantiVAR_036781826N → D3 PublicationsCorresponds to variant dbSNP:rs175081EnsemblClinVar.1
Natural variantiVAR_023349844P → L2 PublicationsCorresponds to variant dbSNP:rs175080EnsemblClinVar.1
Natural variantiVAR_023350845S → G1 PublicationCorresponds to variant dbSNP:rs28756992EnsemblClinVar.1
Natural variantiVAR_023351942T → I1 PublicationCorresponds to variant dbSNP:rs17102999EnsemblClinVar.1
Natural variantiVAR_023352966S → P1 PublicationCorresponds to variant dbSNP:rs17782839EnsemblClinVar.1
Natural variantiVAR_012951981G → S in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs377337763EnsemblClinVar.1
Natural variantiVAR_0129521007N → S in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs776639203EnsemblClinVar.1
Natural variantiVAR_0233531073D → N1 PublicationCorresponds to variant dbSNP:rs28756993EnsemblClinVar.1
Natural variantiVAR_0233541105D → E1 PublicationCorresponds to variant dbSNP:rs28757008EnsemblClinVar.1
Natural variantiVAR_0233551163G → D1 PublicationCorresponds to variant dbSNP:rs28757011EnsemblClinVar.1
Natural variantiVAR_0233561319G → R1 Publication1
Natural variantiVAR_0129531394A → T in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs138006166EnsemblClinVar.1
Natural variantiVAR_0129541451E → K in HNPCC7. 1 PublicationCorresponds to variant dbSNP:rs28939071EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0032901215 – 1238Missing in isoform 2. CuratedAdd BLAST24

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32123.1 [Q9UHC1-1]
CCDS9837.1 [Q9UHC1-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001035197.1, NM_001040108.1 [Q9UHC1-1]
XP_006720179.1, XM_006720116.3 [Q9UHC1-1]
XP_016876708.1, XM_017021219.1 [Q9UHC1-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000355774; ENSP00000348020; ENSG00000119684 [Q9UHC1-1]
ENST00000380968; ENSP00000370355; ENSG00000119684 [Q9UHC1-2]
ENST00000556740; ENSP00000452316; ENSG00000119684 [Q9UHC1-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
27030

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:27030

UCSC genome browser

More...
UCSCi
uc001xrd.1 human [Q9UHC1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_006720179.1, XM_006720116.3 [Q9UHC1-1]
XP_016876708.1, XM_017021219.1 [Q9UHC1-2]

3D structure databases

SMRiQ9UHC1
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117961, 7 interactors
IntActiQ9UHC1, 42 interactors
MINTiQ9UHC1
STRINGi9606.ENSP00000348020

PTM databases

CarbonylDBiQ9UHC1
iPTMnetiQ9UHC1
PhosphoSitePlusiQ9UHC1

Polymorphism and mutation databases

BioMutaiMLH3
DMDMi317373417

Proteomic databases

EPDiQ9UHC1
jPOSTiQ9UHC1
PaxDbiQ9UHC1
PeptideAtlasiQ9UHC1
PRIDEiQ9UHC1
ProteomicsDBi84305
84306 [Q9UHC1-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
27030
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
27030
DisGeNETi27030

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MLH3
HGNCiHGNC:7128 MLH3
HPAiHPA060570
MalaCardsiMLH3
MIMi114500 phenotype
604395 gene
614385 phenotype
neXtProtiNX_Q9UHC1
OpenTargetsiENSG00000119684
Orphaneti144 Lynch syndrome
PharmGKBiPA30845

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1977 Eukaryota
COG0323 LUCA
GeneTreeiENSGT00800000124176
HOGENOMiHOG000140944
InParanoidiQ9UHC1
KOiK08739
OMAiMKGSERE
OrthoDBi735423at2759
PhylomeDBiQ9UHC1
TreeFamiTF329597

Enzyme and pathway databases

ReactomeiR-HSA-912446 Meiotic recombination

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MLH3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MLH3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
27030

Protein Ontology

More...
PROi
PR:Q9UHC1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000119684 Expressed in 217 organ(s), highest expression level in lung
ExpressionAtlasiQ9UHC1 baseline and differential
GenevisibleiQ9UHC1 HS

Family and domain databases

CDDicd00075 HATPase_c, 1 hit
Gene3Di2.30.42.20, 1 hit
3.30.1370.100, 1 hit
3.30.230.10, 1 hit
3.30.565.10, 1 hit
InterProiView protein in InterPro
IPR014762 DNA_mismatch_repair_CS
IPR013507 DNA_mismatch_S5_2-like
IPR003594 HATPase_C
IPR036890 HATPase_C_sf
IPR028830 Mlh3
IPR038973 MutL/Mlh/Pms
IPR014790 MutL_C
IPR042120 MutL_C_dimsub
IPR042121 MutL_C_regsub
IPR037198 MutL_C_sf
IPR020568 Ribosomal_S5_D2-typ_fold
IPR014721 Ribosomal_S5_D2-typ_fold_subgr
PANTHERiPTHR10073 PTHR10073, 1 hit
PTHR10073:SF47 PTHR10073:SF47, 1 hit
PfamiView protein in Pfam
PF01119 DNA_mis_repair, 1 hit
PF08676 MutL_C, 1 hit
SMARTiView protein in SMART
SM01340 DNA_mis_repair, 1 hit
SM00853 MutL_C, 1 hit
SUPFAMiSSF118116 SSF118116, 1 hit
SSF54211 SSF54211, 1 hit
SSF55874 SSF55874, 1 hit
PROSITEiView protein in PROSITE
PS00058 DNA_MISMATCH_REPAIR_1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMLH3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UHC1
Secondary accession number(s): P49751
, Q56DK9, Q9P292, Q9UHC0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: January 11, 2011
Last modified: May 8, 2019
This is version 169 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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