Human Gene MSH5 (uc011hbh.2) Description and Page Index
  Description: Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 3, mRNA.
RefSeq Summary (NM_172166): This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011].
Transcript (Including UTRs)
   Position: chr6_mann_hap4:3,050,615-3,058,094 Size: 7,480 Total Exon Count: 10 Strand: +
Coding Region
   Position: chr6_mann_hap4:3,051,134-3,058,094 Size: 6,961 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDRNA Structure
Protein StructureOther SpeciesmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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-  Comments and Description Text from UniProtKB
  ID: MSH5_HUMAN
DESCRIPTION: RecName: Full=MutS protein homolog 5; Short=hMSH5;
FUNCTION: Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis (By similarity).
SUBUNIT: Heterooligomer of MSH4 and MSH5. Interacts with HJURP.
INTERACTION: P00519:ABL1; NbExp=10; IntAct=EBI-6092730, EBI-375543; O15457:MSH4; NbExp=5; IntAct=EBI-6092730, EBI-6092777;
TISSUE SPECIFICITY: Ubiquitous, but highly expressed in testis, and thymus.
SIMILARITY: Belongs to the DNA mismatch repair MutS family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/msh5/";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: MSH5
CDC HuGE Published Literature: MSH5
Positive Disease Associations: Diabetes Mellitus, Type 1 , lung cancer , Lupus Erythematosus, Systemic , Macular Degeneration
Related Studies:
  1. Diabetes Mellitus, Type 1
    , , . [PubMed 0]
  2. lung cancer
    Wang ,et al. 2008, Common 5p15.33 and 6p21.33 variants influence lung cancer risk, Nature genetics 2008 40- 12 : 1407-9. [PubMed 18978787]
  3. Lupus Erythematosus, Systemic
    , , . [PubMed 0]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -138.20286-0.483 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000432 - DNA_mismatch_repair_MutS_C
IPR007861 - DNA_mismatch_repair_MutS_clamp
IPR007696 - DNA_mismatch_repair_MutS_core
IPR027417 - P-loop_NTPase

Pfam Domains:
PF00488 - MutS domain V
PF05190 - MutS family domain IV
PF05192 - MutS domain III

SCOP Domains:
48334 - DNA repair protein MutS, domain III
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on O43196
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  AF048987 - Homo sapiens MutS homolog 5 (MSH5) mRNA, 5' untranslated region.
AF070071 - Homo sapiens MutS homolog (MSH5) mRNA, complete cds.
AK304221 - Homo sapiens cDNA FLJ58885 complete cds, highly similar to MutS protein homolog 5.
AF034759 - Homo sapiens MutS homolog (MSH5) mRNA, complete cds.
BC001358 - Homo sapiens mutS homolog 5 (E. coli), mRNA (cDNA clone MGC:2043 IMAGE:3050865), complete cds.
BC002498 - Homo sapiens mutS homolog 5 (E. coli), mRNA (cDNA clone MGC:2939 IMAGE:3050903), complete cds.
BC041031 - Homo sapiens mutS homolog 5 (E. coli), mRNA (cDNA clone MGC:52249 IMAGE:4591368), complete cds.
AF048986 - Homo sapiens MutS homolog 5 (MSH5) mRNA, complete cds.
CU678000 - Synthetic construct Homo sapiens gateway clone IMAGE:100020449 5' read MSH5 mRNA.
AB527804 - Synthetic construct DNA, clone: pF1KB5799, Homo sapiens MSH5 gene for mutS homolog 5, without stop codon, in Flexi system.
BT007200 - Homo sapiens mutS homolog 5 (E. coli) mRNA, complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: B0V033, B0V034, MSH5_HUMAN, NM_002441, NM_172166, NP_751898, O43196, O60586, Q5BLU9, Q5SSR1, Q8IW44, Q9BQC7
UCSC ID: uc011hbh.2
RefSeq Accession: NM_172166
Protein: O43196 (aka MSH5_HUMAN