Human Gene MSH5 (ENST00000375750.9_9) from GENCODE V47lift37
  Description: mutS homolog 5, transcript variant 4 (from RefSeq NM_172166.4)
Gencode Transcript: ENST00000375750.9_9
Gencode Gene: ENSG00000204410.16_16
Transcript (Including UTRs)
   Position: hg19 chr6:31,707,782-31,730,453 Size: 22,672 Total Exon Count: 25 Strand: +
Coding Region
   Position: hg19 chr6:31,708,244-31,730,308 Size: 22,065 Coding Exon Count: 24 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:31,707,782-31,730,453)mRNA (may differ from genome)Protein (834 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  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.
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/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MSH5
Diseases sorted by gene-association score: premature ovarian failure 13* (1280), common variable immunodeficiency (3)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.53 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 20.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.6071-0.403 Picture PostScript Text
3' UTR -31.20145-0.215 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

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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008094 DNA-dependent ATPase activity
GO:0030983 mismatched DNA binding
GO:0003684 damaged DNA binding

Biological Process:
GO:0006281 DNA repair
GO:0006298 mismatch repair
GO:0006974 cellular response to DNA damage stimulus
GO:0051026 chiasma assembly
GO:0051321 meiotic cell cycle

Cellular Component:
GO:0000795 synaptonemal complex
GO:0032300 mismatch repair complex


-  Descriptions from all associated GenBank mRNAs
  AF070071 - Homo sapiens MutS homolog (MSH5) mRNA, complete cds.
AF034759 - Homo sapiens MutS homolog (MSH5) mRNA, complete cds.
AJ245661 - Homo sapiens mRNA for G7 protein (G7 gene located in the class III region of the major histocompatibility complex.
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.
KJ891641 - Synthetic construct Homo sapiens clone ccsbBroadEn_01035 MSH5 gene, encodes complete protein.
KJ891642 - Synthetic construct Homo sapiens clone ccsbBroadEn_01036 MSH5 gene, encodes complete protein.
KR710383 - Synthetic construct Homo sapiens clone CCSBHm_00012090 MSH5 (MSH5) mRNA, encodes complete protein.
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.
AK303129 - Homo sapiens cDNA FLJ54211 complete cds, highly similar to MutS protein homolog 5.
AB209886 - Homo sapiens mRNA for MSH5 protein variant protein.
AF048987 - Homo sapiens MutS homolog 5 (MSH5) mRNA, 5' untranslated region.
AK304221 - Homo sapiens cDNA FLJ58885 complete cds, highly similar to MutS protein homolog 5.
CU678000 - Synthetic construct Homo sapiens gateway clone IMAGE:100020449 5' read MSH5 mRNA.
AK097233 - Homo sapiens cDNA FLJ39914 fis, clone SPLEN2018732, highly similar to MutS protein homolog 5.
AL122094 - Homo sapiens mRNA; cDNA DKFZp434C1615 (from clone DKFZp434C1615).
JD537087 - Sequence 518111 from Patent EP1572962.
JD272479 - Sequence 253503 from Patent EP1572962.
JD554284 - Sequence 535308 from Patent EP1572962.
JD227049 - Sequence 208073 from Patent EP1572962.
JD271064 - Sequence 252088 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O43196 (Reactome details) participates in the following event(s):

R-HSA-912446 Meiotic recombination
R-HSA-1500620 Meiosis
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: B0V033, B0V034, ENST00000375750.1, ENST00000375750.2, ENST00000375750.3, ENST00000375750.4, ENST00000375750.5, ENST00000375750.6, ENST00000375750.7, ENST00000375750.8, MSH5_HUMAN, NM_172166, O43196, O60586, Q5BLU9, Q5SSR1, Q8IW44, Q9BQC7, uc318mmi.1, uc318mmi.2
UCSC ID: ENST00000375750.9_9
RefSeq Accession: NM_172166.4
Protein: O43196 (aka MSH5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.