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MSH5 Gene

protein-coding   GIFtS: 59

GC06P031815
mutS homolog 5 (E. coli)
(Previous name: mutS (E. coli) homolog 5 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DKFZp434C1615 2
G7 2
MGC2939 2
MutSH5 2
NG23 2
OTTHUMP00000029187 2
OTTHUMP00000029188 2
Descriptions
mutS (E. coli) homolog 5 1
mutS homolog 5 2
mutS homolog 5 (E. coli) 2
External Ids
HGNC: 73281
Entrez Gene: 44392
UniProtKB: O431963
Ensembl: ENSG000002044107
Search outside databases for aliases for MSH5 gene

Previous GC identifers: GC06P031771 GC06P031478 GC06P031812

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for MSH5:
This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair
or meiotic recombination processes. This protein is similar to a Saccharomyces cerevisiae protein
that participates in meiotic segregation fidelity and crossing-over. This protein forms
heterooligomers with another member of this family, mutS homolog 4. Alternative splicing results
in four transcript variants encoding three different isoforms. [provided by RefSeq]

UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196
Function: Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis
(By similarity)

Gene Wiki entry for MSH5

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MSH5 gene  

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

MSH5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031815:     (about GC identifiers)

Start:
31,815,753 bp from pter
End:
31,838,432 bp from pter
Size:
22,680 bases
Orientation:
plus strand

2 alternative locations:
Chr6+,c6_QBL 31,840,862-31,862,508      Chr6+,c6_COX 31,842,433-31,865,089     
RefSeq DNA sequence:
NC_000006.10  NT_007592.14  NT_113891.1  NT_113894.1  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196 (See protein sequence)
Recommended Name: MutS protein homolog 5  
Size: 834 amino acids; 92875 Da
Subunit: Heterooligomer of MSH4 and MSH5. Interacts with HJURP
Secondary accessions: O60586 Q5BLU9 Q5SSR1 Q8IW44 Q9BQC7
Alternative splicing: 4 isoforms:  O43196-1   O43196-2   O43196-3   O43196-4   

REFSEQ proteins (4 alternative transcripts): 
NP_002432.1  NP_079535.3  NP_751897.1  NP_751898.1  


ENSEMBL proteins: 
ENSP00000372893 ENSP00000364848 ENSP00000364892 ENSP00000379194 ENSP00000364908 ENSP00000364894 
ENSP00000364855 ENSP00000364903 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (MSH5)
Human Recombinant Proteins from Abnova (MSH5)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0000795 synaptonemal complex IEA--
GO:0005829 cytosol IEA--
GO:0043234 protein complex IEA--
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Antibodies for MSH5: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for MSH5
Browse R&D Systems for Antibodies
Antibodies from Abcam (MSH5), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (MSH5)
Novus Biologicals Antibodies for MSH5

Assays for MSH5: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro domains/families:
 IPR007861 DNA_mismatch_repair_MutS_clamp
 IPR000432 DNA_mismatch_repair_MutS_C
 IPR007696 DNA_mismatch_repair_MutS_core


   GeneDecks  MSH5 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry O43196

ProtoNet protein and cluster: O43196

1 Blocks protein family: IPB007696 MutS III

UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196
Similarity: Belongs to the DNA mismatch repair mutS family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (MSH5)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (MSH5)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_025259

              Applied Biosystems Silencer® siRNAs for MSH5

              Sigma-Aldrich siRNA and siRNA Panels for MSH5  
                     Sigma-Aldrich shRNA for MSH5  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for MSH5
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_002441
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_002441
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_002441 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_025259

UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196
Function: Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis
(By similarity)

Genatlas biochemistry entry for MSH5:
yeast meiosis specific protein,mutator gene homolog (bacteria Mut S homolog 5) interacting with
MSH4,92.9kDa,ubiquitous,mostly expressed in testis,thymus, and immune system,putatively required
for chromosome pairing in meiosis and DNA replicative mismatch repair

2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Msh5):

endocrine/exocrine glandreproductive system

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0000166 nucleotide binding IEA--
GO:0003677 DNA binding IEA--
GO:0005515 protein binding IEA--
GO:0005524 ATP binding IEA--
GO:0030983 mismatched DNA binding IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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 Gene Network CentralTM Interacting Genes and Proteins Network for  MSH5 

  --

5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0006298 mismatch repair TAS9740671
GO:0006952 defense response IEA--
GO:0006986 response to unfolded protein IEA--
GO:0007129 synapsis IEA--
GO:0007131 reciprocal meiotic recombination TAS9787078
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for MSH5

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (MSH5)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (MSH5)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_025259

              Sigma-Aldrich siRNA and siRNA Panels for MSH5  
                     Sigma-Aldrich shRNA for MSH5  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_002441  NM_025259  NM_172165  NM_172166  

REFSEQ mRNAs for MSH5 gene (4 alternative transcripts): 

NM_002441.3   NM_025259.4   NM_172165.2   NM_172166.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_002441  NM_025259  NM_172165  NM_172166  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_002441
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_002441
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_002441 

Additional cDNA sequence: 

AB209886.1 AF034759.1 AF048986.1 AF070071.1 AK303129.1 AK304221.1 BC001358.2 BC002498.2 
BC041031.1 BT007200.1 

17 DOTS entries:

DT.100789192  DT.92429774  DT.121408300  DT.95274369  DT.75102357  DT.100026601  DT.100789187  DT.86857350 
DT.121408285  DT.121408310  DT.302179  DT.100687934  DT.100789190  DT.203689  DT.95154171  DT.121408227 
DT.97842306 

24/185 AceView cDNA sequences (see all 185 ):

BU950645 AI979234 CA427196 NM_172165 BC041031 BC002498 BI062976 AA588121 
BI063399 AF034759 AA317440 AA969618 CD671687 AI796035 AA399986 AL122094 
BU951004 AA503388 AI261444 BM764810 CD242818 AA971011 BE276767 AF048986 

highest scoring ESTs for MSH5:

AF070071 AA135366 AA470697 AA503388 AA588121 AA621155 AA632264 AA651782 AA775820 AF034759 

Unigene Cluster for MSH5:

MutS homolog 5 (E. coli)
Hs.647011  [show with all ESTs]
Unigene Representative Sequence: AB209886


GeneLoc Exon Structure

8 Ensembl transcripts including schematic representations:
ENST00000383401  ENST00000375696  ENST00000375740  ENST00000395853  ENST00000375755  ENST00000375742  
ENST00000375703  ENST00000375750  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

MSH5 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for MSH5

1 / 2 / 3

4 probe-sets matching MSH5 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
41467_at2, 3 U95-A 2 0.81 0.41 0.90 0.63 AF070071 1.00 1.00 1.00 1

57190_f_at2, 3 U95-C 3379 0.69 0.00 0.57 1.37 AI802804 0.20 0.17 0.18 1

210410_s_at2, 3 U133-A 2 1.00 0.50 -- -- AF034759 0.80 1.00 0.91 1

210410_s_at2 U133Plus2 2 1.00 0.50 -- -- -- -- -- -- --
GeneDecks  MSH5 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CCCTCTTTGT

SOURCE GeneReport for Unigene cluster: Hs.647011

Expression variation in blood from EXPOLDB for MSH5

UniProtKB/Swiss-Prot: MSH5_HUMAN, O43196
Tissue specificity: Ubiquitous, but highly expressed in testis, and thymus

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for MSH5 gene from 5/10 species (see all 10 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
MSH51   -- mutS homolog 5 (E. coli) 88.01(n)
89.59(a)
474848  XM_532080.2  XP_532080.2 
chimpanzee
(Pan troglodytes)
MSH51   -- mutS homolog 5 (E. coli) 99.6(n)
99.4(a)
462565  XM_518358.2  XP_518358.2 
rat
(Rattus norvegicus)
Msh51   -- mutS homolog 5 (E. coli) 86.34(n)
88.51(a)
294252  NM_212536.1  NP_997701.1 
mouse
(Mus musculus)
Msh51, 5 17 (18.90 cM)5
mutS homolog 5 (E. coli)1, 5 87.21(n)1
89.83(a)1
176871  NM_013600.11  NP_038628.11 
 AA2217705  AF1073525  (see all 20)
zebrafish
(Danio rerio)
LOC5700301   -- similar to MSH5 58.69(n)
54.61(a)
570030  XM_693460.3  XP_698552.3 
About this table        Species with no ortholog for MSH5

ENSEMBL Gene Tree for MSH5
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for MSH5 gene
MSH42  MSH22  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/247 NCBI SNPs in MSH5 are shown (see all 247 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 123)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 6 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs31313821,2
A,C,F,H31815709(-) TCCTAG/ACCGCT 4 -- ng5118Minor allele frequency- A:0.02EU EA WA NS MN NA 1400
--
rs20757891,2
C,F31816307(-) CACTGG/AGGCCG 4 S/P mis1 ese36Minor allele frequency- A:0.14NS NA 266
--
rs172010671,2
C,F31815675(+) ATCTCT/CAGGCT 4 -- ng516Minor allele frequency- C:0.03MN NS 268
rs283813441,2
C,F31815505(+) CCACTG/ACGCCA 4 -- ng51 tfbs35Minor allele frequency- A:0.03NS 176
rs283813451,2
F31815808(+) ACCTGT/CAGCGA 4 -- ut51 ese35Minor allele frequency- C:0.02NS 172
rs131944021,2
H31815323(+) CTAAGC/TTCTGT 4 -- ng514Minor allele frequency- T:0.00EU EA WA 418
--
rs3963691,2
C31814831(-) AAAAAA/TATATA 4 -- ng510--------
--
rs172074541,2
F31815943(+) CTCGCC/TCCACA 4 -- int1 ut51 ese31Minor allele frequency- T:0.02MN 96
rs283813491,2
F31817024(+) AGAGCC/TTCAAG 4 L/F mis1 ese35Minor allele frequency- T:0.02NS 186
rs283813411,2
C31815206(+) CATACC/TCTGTA 4 -- ng515Minor allele frequency- T:0.01NS 168
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HapMap Linkage Disequilibrium images for MSH5 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 603382

1 Novoseek disease relationship for MSH5 gene

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
colorectal cancer 26.02 1 9740671 (1)
About this table

Human Gene Mutation Database: MSH5
Human Genome Epidemiology Navigator: MSH5 (6 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/32 PubMed articles for MSH5 gene (see all 32 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 4439 HGNC: 7328 AceView: MSH5 Ensembl:ENSG00000204410 euGenes: HUgn4439
ECgene: MSH5 H-InvDB: MSH5
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

NameDescription
ATLAS Chromosomes in Cancer entry for MSH5 Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPshttp://egp.gs.washington.edu/data/msh5/
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for MSH5:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Predesigned and custom siRNAs for MSH5 Antibodies for MSH5
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
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 Antibodies for MSH5

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