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
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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
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.
SCOP Domains: 48334 - DNA repair protein MutS, domain III 52540 - P-loop containing nucleoside triphosphate hydrolases
ModBase Predicted Comparative 3D Structure on O43196
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.