Q3UA06 · PCH2_MOUSE
- ProteinPachytene checkpoint protein 2 homolog
- GeneTrip13
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids432 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double-strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (PubMed:17696610, PubMed:19851446, PubMed:20711356).
Plays a role in mitotic spindle assembly checkpoint (SAC) activation (By similarity).
Plays a role in mitotic spindle assembly checkpoint (SAC) activation (By similarity).
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | chromosome | |
Cellular Component | male germ cell nucleus | |
Cellular Component | nucleus | |
Molecular Function | ATP binding | |
Molecular Function | ATP hydrolysis activity | |
Molecular Function | identical protein binding | |
Biological Process | double-strand break repair | |
Biological Process | female meiosis I | |
Biological Process | male meiosis I | |
Biological Process | meiotic recombination checkpoint signaling | |
Biological Process | mitotic spindle assembly checkpoint signaling | |
Biological Process | oocyte maturation | |
Biological Process | oogenesis | |
Biological Process | reciprocal meiotic recombination | |
Biological Process | spermatid development | |
Biological Process | spermatogenesis | |
Biological Process | synaptonemal complex assembly |
Keywords
- Biological process
- Ligand
Names & Taxonomy
Protein names
- Recommended namePachytene checkpoint protein 2 homolog
- Alternative names
Gene names
Organism names
- Organism
- Strains
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Glires > Rodentia > Myomorpha > Muroidea > Muridae > Murinae > Mus > Mus
Accessions
- Primary accessionQ3UA06
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Phenotypes & Variants
Disruption phenotype
Mice develop normally without obvious somatic defects but males and females are sterile due to meiotic disruption in meiocytes. Homozygous mutants display small gonads and females have few or no follicles, due to oocyte elimination between pachynema and dictyate. Mutant testes display reduced populated tubules and spermatogenesis is mainly arrested at spermatocyte stages of epithelial stage IV, corresponding to pachynema. Different phenotypes are observed in the different knockout experiments tested. In Trip13(RRB047) mutant mice, also named Trip13(mod) allele for moderate, the number of crossovers are not affected and meiocytes undergo homologous chromosome synapsis despide the presence of unrepaired DSBs in pachynema. Using a more severe mutant allele, named Trip13(sev) for severe, additional defects are observed: the numbers of crossovers and chiasmata are reduced in the absence of TRIP13, and their distribution along the chromosomes is altered (PubMed:20711356).
Autosomal bivalents in meiocytes frequently display pericentric synaptic forks and other defects (PubMed:20711356).
Recombination defects are evident very early in meiotic prophase, soon after DSB formation (PubMed:20711356).
These results suggest that the absence of defects in the number of crossovers observed in Trip13(RRB047) mutant is due to the use of a weak hypomorphic mutant allele
Autosomal bivalents in meiocytes frequently display pericentric synaptic forks and other defects (PubMed:20711356).
Recombination defects are evident very early in meiotic prophase, soon after DSB formation (PubMed:20711356).
These results suggest that the absence of defects in the number of crossovers observed in Trip13(RRB047) mutant is due to the use of a weak hypomorphic mutant allele
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 29 variants from UniProt as well as other sources including ClinVar and dbSNP.
PTM/Processing
Features
Showing features for modified residue, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Modified residue | 1 | N-acetylmethionine | ||||
Sequence: M | ||||||
Chain | PRO_0000084783 | 1-432 | Pachytene checkpoint protein 2 homolog | |||
Sequence: MDEAVGDLKQALPCVAESPAVHVEVLQRSGSTAKKEDIKSSVYRLLNRHNIVFGDYVWTEFDDPFLSRNVQSVSIVDTELKAKDPQPIDLSACTIALHIFQLNEEGPSSENLDEETENIIAASHWVLPAAEFHGLWDSLVYDVEVKSHLLDYVMTTVLFSDKNVDSNLITWNRVVLLHGPPGTGKTSLCKALAQKLTIRLSSRYRYGQLIEINSHSLFSKWFSESGKLVTKMFQKIQDLIDDKEALVFVLIDEVESLTAARNACRAGAEPSDAIRVVNAVLTQIDQIKRHSNVVILTTSNITEKIDVAFVDRADIKQYIGPPSAAAIFKIYLSCLEELMKCQIIYPRQQLLTLRELEMIGFIENNVSKLSLLLSEISRKSEGLSGRVLRKLPFLAHALYIQAPSVTIEGFLQALSLAVDKQFEEKKKLSAYV |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Widely expressed, including in testis.
Gene expression databases
Interaction
Subunit
Specifically interacts with the ligand binding domain of the thyroid receptor (TR). This interaction does not require the presence of thyroid hormone for its interaction (By similarity).
Interacts with proteasome subunit PSMA8; to participate in meiosis progression during spermatogenesis (PubMed:31437213).
Interacts with proteasome subunit PSMA8; to participate in meiosis progression during spermatogenesis (PubMed:31437213).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q3UA06 | Ttc5 Q99LG4 | 2 | EBI-308990, EBI-21183045 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q3UA06-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length432
- Mass (Da)48,377
- Last updated2005-10-11 v1
- Checksum4427E94AF4D733DB
Q3UA06-2
- Name2
- Differences from canonical
- 1-231: Missing
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A1Y7VLR4 | A0A1Y7VLR4_MOUSE | Trip13 | 80 | ||
A0A1Y7VK03 | A0A1Y7VK03_MOUSE | Trip13 | 23 |
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_041559 | 1-231 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 148 | in Ref. 1; BAB26861 | ||||
Sequence: H → R | ||||||
Sequence conflict | 274 | in Ref. 1; BAB26861 | ||||
Sequence: I → F | ||||||
Sequence conflict | 409 | in Ref. 1; BAE25076 | ||||
Sequence: G → S |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK010336 EMBL· GenBank· DDBJ | BAB26861.1 EMBL· GenBank· DDBJ | mRNA | ||
AK142463 EMBL· GenBank· DDBJ | BAE25076.1 EMBL· GenBank· DDBJ | mRNA | ||
AK146877 EMBL· GenBank· DDBJ | BAE27499.1 EMBL· GenBank· DDBJ | mRNA | ||
AK151568 EMBL· GenBank· DDBJ | BAE30510.1 EMBL· GenBank· DDBJ | mRNA | ||
CT010471 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH466563 EMBL· GenBank· DDBJ | EDL37076.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC023834 EMBL· GenBank· DDBJ | AAH23834.1 EMBL· GenBank· DDBJ | mRNA | ||
BC126946 EMBL· GenBank· DDBJ | AAI26947.1 EMBL· GenBank· DDBJ | mRNA |