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UniProtKB - O43196 (MSH5_HUMAN)

Entry version 175 (07 Apr 2021)
Sequence version 1 (01 Jun 1998)
Previous versions | rss
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Protein

MutS protein homolog 5

Gene

MSH5

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

Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi592 – 599ATPSequence analysis8

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Molecular functionDNA-binding
Biological processDNA damage, DNA repair, Meiosis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O43196

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%5Fand%5Ftaxonomy%5Fsection">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:
MutS protein homolog 5
Short name:
hMSH5
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:MSH5
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7328, MSH5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603382, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O43196

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000204410.14

<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

<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

Premature ovarian failure 13 (POF13)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
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_078116353L → M in POF13; unknown pathological significance. 1 Publication1
Natural variantiVAR_078117487D → Y in POF13; decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide. 1 PublicationCorresponds to variant dbSNP:rs1060505055EnsemblClinVar.1
Natural variantiVAR_078118703I → V in POF13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752657544Ensembl.1

Keywords - Diseasei

Disease variant, Premature ovarian failure

Organism-specific databases

DisGeNET

More...DisGeNETi		4439

MalaCards human disease database

More...MalaCardsi		MSH5
MIMi617442, phenotype

Open Targets

More...OpenTargetsi		ENSG00000204410
ENSG00000255152

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

More...Orphaneti		619, NON RARE IN EUROPE: Primary ovarian failure

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31136

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O43196, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MSH5

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001152021 – 834MutS protein homolog 5Add BLAST834

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O43196

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O43196

MaxQB - The MaxQuant DataBase

More...MaxQBi		O43196

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

More...PaxDbi		O43196

PeptideAtlas

More...PeptideAtlasi		O43196

PRoteomics IDEntifications database

More...PRIDEi		O43196

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		48810 [O43196-1]
48811 [O43196-2]
48812 [O43196-3]
48813 [O43196-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O43196

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

More...PhosphoSitePlusi		O43196

<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

Widely expressed, with high levels in testis and ovary, including granulosa cells (PubMed:9740671, PubMed:28175301). Also expressed in fetal ovary and adrenal gland (PubMed:28175301).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000204410, Expressed in right testis and 112 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O43196, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O43196, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000204410, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterooligomer of MSH4 and MSH5.

Interacts with HJURP.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110576, 12 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O43196

Protein interaction database and analysis system

More...IntActi		O43196, 18 interactors

Molecular INTeraction database

More...MINTi		O43196

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000364855

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O43196, protein

<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

More...SMRi		O43196

Database of comparative protein structure models

More...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

Belongs to the DNA mismatch repair MutS family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0221, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00550000074977

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_002472_8_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O43196

Identification of Orthologs from Complete Genome Data

More...OMAi		METHQDG

Database for complete collections of gene phylogenies

More...PhylomeDBi		O43196

TreeFam database of animal gene trees

More...TreeFami		TF314549

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011184, DNA_mismatch_repair_Msh2
IPR000432, DNA_mismatch_repair_MutS_C
IPR007861, DNA_mismatch_repair_MutS_clamp
IPR007696, DNA_mismatch_repair_MutS_core
IPR036187, DNA_mismatch_repair_MutS_sf
IPR027417, P-loop_NTPase

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05192, MutS_III, 1 hit
PF05190, MutS_IV, 1 hit
PF00488, MutS_V, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF005813, MSH2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00534, MUTSac, 1 hit
SM00533, MUTSd, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48334, SSF48334, 1 hit
SSF52540, SSF52540, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00486, DNA_MISMATCH_REPAIR_2, 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%5Flength">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 4 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 31 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43196-1) [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
MASLGANPRR TPQGPRPGAA SSGFPSPAPV PGPREAEEEE VEEEEELAEI 
        60         70         80         90        100
HLCVLWNSGY LGIAYYDTSD STIHFMPDAP DHESLKLLQR VLDEINPQSV 
       110        120        130        140        150
VTSAKQDENM TRFLGKLASQ EHREPKRPEI IFLPSVDFGL EISKQRLLSG 
       160        170        180        190        200
NYSFIPDAMT ATEKILFLSS IIPFDCLLTV RALGGLLKFL GRRRIGVELE 
       210        220        230        240        250
DYNVSVPILG FKKFMLTHLV NIDQDTYSVL QIFKSESHPS VYKVASGLKE 
       260        270        280        290        300
GLSLFGILNR CHCKWGEKLL RLWFTRPTHD LGELSSRLDV IQFFLLPQNL 
       310        320        330        340        350
DMAQMLHRLL GHIKNVPLIL KRMKLSHTKV SDWQVLYKTV YSALGLRDAC 
       360        370        380        390        400
RSLPQSIQLF RDIAQEFSDD LHHIASLIGK VVDFEGSLAE NRFTVLPNID 
       410        420        430        440        450
PEIDEKKRRL MGLPSFLTEV ARKELENLDS RIPSCSVIYI PLIGFLLSIP 
       460        470        480        490        500
RLPSMVEASD FEINGLDFMF LSEEKLHYRS ARTKELDALL GDLHCEIRDQ 
       510        520        530        540        550
ETLLMYQLQC QVLARAAVLT RVLDLASRLD VLLALASAAR DYGYSRPRYS 
       560        570        580        590        600
PQVLGVRIQN GRHPLMELCA RTFVPNSTEC GGDKGRVKVI TGPNSSGKSI 
       610        620        630        640        650
YLKQVGLITF MALVGSFVPA EEAEIGAVDA IFTRIHSCES ISLGLSTFMI 
       660        670        680        690        700
DLNQVAKAVN NATAQSLVLI DEFGKGTNTV DGLALLAAVL RHWLARGPTC 
       710        720        730        740        750
PHIFVATNFL SLVQLQLLPQ GPLVQYLTME TCEDGNDLVF FYQVCEGVAK 
       760        770        780        790        800
ASHASHTAAQ AGLPDKLVAR GKEVSDLIRS GKPIKPVKDL LKKNQMENCQ 
       810        820        830 
TLVDKFMKLD LEDPNLDLNV FMSQEVLPAA TSIL
Length:834
Mass (Da):92,875
Last modified:June 1, 1998 - v1
<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:i89E747F5361870E2
GO
Isoform 2 (identifier: O43196-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     654-654: Q → QQ

Show »
Length:835
Mass (Da):93,004
Checksum:i242182205EEF15D2
GO
Isoform 3 (identifier: O43196-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     179-179: T → TPPGDLRFTPIPLLIPSQ

Show »
Length:851
Mass (Da):94,719
Checksum:i5B1AEE179D863E41
GO
Isoform 4 (identifier: O43196-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     179-179: T → TPPGDLRFTPIPLLIPSQ
     654-654: Q → QQ
     745-774: Missing.

Show »
Length:822
Mass (Da):91,862
Checksum:i1D4A762D52173D03
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 31 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A024RCV8A0A024RCV8_HUMAN
DNA mismatch repair protein
MSH5-SAPCD1 MSH5, hCG_2001570
851Annotation 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>
A2ABF0A2ABF0_HUMAN
MutS protein homolog 5
MSH5
508Annotation 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>
A0A140T9P6A0A140T9P6_HUMAN
MutS protein homolog 5
MSH5
401Annotation 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>
H7C2J4H7C2J4_HUMAN
MutS protein homolog 5
MSH5
637Annotation 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>
A0A140T982A0A140T982_HUMAN
MutS protein homolog 5
MSH5
745Annotation 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>
A0A0G2JJ70A0A0G2JJ70_HUMAN
MSH5-SAPCD1 readthrough (NMD candid...
MSH5-SAPCD1 MSH5
496Annotation 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>
A0A0G2JK88A0A0G2JK88_HUMAN
MutS protein homolog 5
MSH5
821Annotation 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>
A0A140T9J3A0A140T9J3_HUMAN
MutS protein homolog 5
MSH5
728Annotation 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>
A0A0G2JK42A0A0G2JK42_HUMAN
MutS protein homolog 5
MSH5
727Annotation 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>
A2ABE9A2ABE9_HUMAN
MutS protein homolog 5
MSH5
333Annotation 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>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti764P → L in AAC62533 (PubMed:9740671).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02508229P → S1 PublicationCorresponds to variant dbSNP:rs2075789EnsemblClinVar.1
Natural variantiVAR_02508385L → F1 PublicationCorresponds to variant dbSNP:rs28381349Ensembl.1
Natural variantiVAR_025084202Y → C1 PublicationCorresponds to variant dbSNP:rs28381358Ensembl.1
Natural variantiVAR_025085206V → F1 PublicationCorresponds to variant dbSNP:rs28381359Ensembl.1
Natural variantiVAR_025086351R → G1 PublicationCorresponds to variant dbSNP:rs28399976Ensembl.1
Natural variantiVAR_078116353L → M in POF13; unknown pathological significance. 1 Publication1
Natural variantiVAR_025087377L → F1 PublicationCorresponds to variant dbSNP:rs28399977Ensembl.1
Natural variantiVAR_078117487D → Y in POF13; decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide. 1 PublicationCorresponds to variant dbSNP:rs1060505055EnsemblClinVar.1
Natural variantiVAR_078118703I → V in POF13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752657544Ensembl.1
Natural variantiVAR_025088786P → S1 PublicationCorresponds to variant dbSNP:rs1802127Ensembl.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_017113179T → TPPGDLRFTPIPLLIPSQ in isoform 3 and isoform 4. 1 Publication1
Alternative sequenceiVSP_017114654Q → QQ in isoform 2 and isoform 4. 2 Publications1
Alternative sequenceiVSP_017115745 – 774Missing in isoform 4. 1 PublicationAdd BLAST30

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
AF048986 mRNA Translation: AAC62533.1
AF048991 AF048990 Genomic DNA Translation: AAC62534.1
AF034759 mRNA Translation: AAB87632.1
AF070071 mRNA Translation: AAC70066.1
AF070079 AF070078 Genomic DNA Translation: AAC70067.1
BT007200 mRNA Translation: AAP35864.1
AY943816 Genomic DNA Translation: AAX20111.1
BA000025 Genomic DNA Translation: BAB63375.1
AF129756 Genomic DNA Translation: AAD18072.1
AF134726 Genomic DNA Translation: AAD21822.1
AL662834 Genomic DNA No translation available.
AL662899 Genomic DNA No translation available.
CR759787 Genomic DNA No translation available.
CR925765 Genomic DNA No translation available.
CR936239 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03512.1
CH471081 Genomic DNA Translation: EAX03514.1
BC001358 mRNA Translation: AAH01358.1
BC002498 mRNA Translation: AAH02498.1
BC041031 mRNA Translation: AAH41031.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34409.2 [O43196-4]
CCDS34410.1 [O43196-2]
CCDS4720.1 [O43196-1]

NCBI Reference Sequences

More...RefSeqi		NP_002432.1, NM_002441.4 [O43196-1]
NP_079535.4, NM_025259.5 [O43196-4]
NP_751897.1, NM_172165.3 [O43196-2]
NP_751898.1, NM_172166.3 [O43196-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000375703; ENSP00000364855; ENSG00000204410 [O43196-2]
ENST00000375740; ENSP00000364892; ENSG00000204410 [O43196-4]
ENST00000375750; ENSP00000364903; ENSG00000204410 [O43196-1]
ENST00000375755; ENSP00000364908; ENSG00000204410 [O43196-1]
ENST00000412070; ENSP00000404892; ENSG00000230961
ENST00000416549; ENSP00000399721; ENSG00000235222 [O43196-1]
ENST00000419269; ENSP00000394649; ENSG00000235222 [O43196-2]
ENST00000420731; ENSP00000400187; ENSG00000230961
ENST00000427735; ENSP00000388037; ENSG00000230293 [O43196-1]
ENST00000435700; ENSP00000407047; ENSG00000230293 [O43196-2]
ENST00000436091; ENSP00000396509; ENSG00000230961
ENST00000436192; ENSP00000406868; ENSG00000227314 [O43196-2]
ENST00000441395; ENSP00000402659; ENSG00000227314 [O43196-1]
ENST00000441401; ENSP00000406269; ENSG00000227314 [O43196-1]
ENST00000448617; ENSP00000387609; ENSG00000227314 [O43196-4]
ENST00000456839; ENSP00000394017; ENSG00000235222 [O43196-1]
ENST00000457742; ENSP00000409181; ENSG00000230293 [O43196-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4439

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4439

UCSC genome browser

More...UCSCi		uc003nwu.3, human [O43196-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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%5Freferences%5Fsection">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
AF048986 mRNA Translation: AAC62533.1
AF048991 AF048990 Genomic DNA Translation: AAC62534.1
AF034759 mRNA Translation: AAB87632.1
AF070071 mRNA Translation: AAC70066.1
AF070079 AF070078 Genomic DNA Translation: AAC70067.1
BT007200 mRNA Translation: AAP35864.1
AY943816 Genomic DNA Translation: AAX20111.1
BA000025 Genomic DNA Translation: BAB63375.1
AF129756 Genomic DNA Translation: AAD18072.1
AF134726 Genomic DNA Translation: AAD21822.1
AL662834 Genomic DNA No translation available.
AL662899 Genomic DNA No translation available.
CR759787 Genomic DNA No translation available.
CR925765 Genomic DNA No translation available.
CR936239 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03512.1
CH471081 Genomic DNA Translation: EAX03514.1
BC001358 mRNA Translation: AAH01358.1
BC002498 mRNA Translation: AAH02498.1
BC041031 mRNA Translation: AAH41031.1
CCDSiCCDS34409.2 [O43196-4]
CCDS34410.1 [O43196-2]
CCDS4720.1 [O43196-1]
RefSeqiNP_002432.1, NM_002441.4 [O43196-1]
NP_079535.4, NM_025259.5 [O43196-4]
NP_751897.1, NM_172165.3 [O43196-2]
NP_751898.1, NM_172166.3 [O43196-1]

3D structure databases

SMRiO43196
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110576, 12 interactors
CORUMiO43196
IntActiO43196, 18 interactors
MINTiO43196
STRINGi9606.ENSP00000364855

PTM databases

iPTMnetiO43196
PhosphoSitePlusiO43196

Genetic variation databases

BioMutaiMSH5

Proteomic databases

jPOSTiO43196
MassIVEiO43196
MaxQBiO43196
PaxDbiO43196
PeptideAtlasiO43196
PRIDEiO43196
ProteomicsDBi48810 [O43196-1]
48811 [O43196-2]
48812 [O43196-3]
48813 [O43196-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		27625, 188 antibodies

The DNASU plasmid repository

More...DNASUi		4439

Genome annotation databases

EnsembliENST00000375703; ENSP00000364855; ENSG00000204410 [O43196-2]
ENST00000375740; ENSP00000364892; ENSG00000204410 [O43196-4]
ENST00000375750; ENSP00000364903; ENSG00000204410 [O43196-1]
ENST00000375755; ENSP00000364908; ENSG00000204410 [O43196-1]
ENST00000412070; ENSP00000404892; ENSG00000230961
ENST00000416549; ENSP00000399721; ENSG00000235222 [O43196-1]
ENST00000419269; ENSP00000394649; ENSG00000235222 [O43196-2]
ENST00000420731; ENSP00000400187; ENSG00000230961
ENST00000427735; ENSP00000388037; ENSG00000230293 [O43196-1]
ENST00000435700; ENSP00000407047; ENSG00000230293 [O43196-2]
ENST00000436091; ENSP00000396509; ENSG00000230961
ENST00000436192; ENSP00000406868; ENSG00000227314 [O43196-2]
ENST00000441395; ENSP00000402659; ENSG00000227314 [O43196-1]
ENST00000441401; ENSP00000406269; ENSG00000227314 [O43196-1]
ENST00000448617; ENSP00000387609; ENSG00000227314 [O43196-4]
ENST00000456839; ENSP00000394017; ENSG00000235222 [O43196-1]
ENST00000457742; ENSP00000409181; ENSG00000230293 [O43196-1]
GeneIDi4439
KEGGihsa:4439
UCSCiuc003nwu.3, human [O43196-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4439
DisGeNETi4439

GeneCards: human genes, protein and diseases

More...GeneCardsi		MSH5
HGNCiHGNC:7328, MSH5
HPAiENSG00000204410, Low tissue specificity
MalaCardsiMSH5
MIMi603382, gene
617442, phenotype
neXtProtiNX_O43196
OpenTargetsiENSG00000204410
ENSG00000255152
Orphaneti619, NON RARE IN EUROPE: Primary ovarian failure
PharmGKBiPA31136
VEuPathDBiHostDB:ENSG00000204410.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0221, Eukaryota
GeneTreeiENSGT00550000074977
HOGENOMiCLU_002472_8_0_1
InParanoidiO43196
OMAiMETHQDG
PhylomeDBiO43196
TreeFamiTF314549

Enzyme and pathway databases

PathwayCommonsiO43196
ReactomeiR-HSA-912446, Meiotic recombination

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4439, 6 hits in 993 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MSH5

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

More...GenomeRNAii		4439
PharosiO43196, Tbio

Protein Ontology

More...PROi		PR:O43196
RNActiO43196, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000204410, Expressed in right testis and 112 other tissues
ExpressionAtlasiO43196, baseline and differential
GenevisibleiO43196, HS

Family and domain databases

InterProiView protein in InterPro
IPR011184, DNA_mismatch_repair_Msh2
IPR000432, DNA_mismatch_repair_MutS_C
IPR007861, DNA_mismatch_repair_MutS_clamp
IPR007696, DNA_mismatch_repair_MutS_core
IPR036187, DNA_mismatch_repair_MutS_sf
IPR027417, P-loop_NTPase
PfamiView protein in Pfam
PF05192, MutS_III, 1 hit
PF05190, MutS_IV, 1 hit
PF00488, MutS_V, 1 hit
PIRSFiPIRSF005813, MSH2, 1 hit
SMARTiView protein in SMART
SM00534, MUTSac, 1 hit
SM00533, MUTSd, 1 hit
SUPFAMiSSF48334, SSF48334, 1 hit
SSF52540, SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00486, DNA_MISMATCH_REPAIR_2, 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 nameiMSH5_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: O43196
Secondary accession number(s): B0V033
, B0V034, O60586, Q5BLU9, Q5SSR1, Q8IW44, Q9BQC7
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 1, 1998
Last modified: April 7, 2021
This is version 175 of the entry and version 1 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

Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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