| Name | cystatin 13, pseudogene |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nRecent studies have highlighted the critical role of SHOC1—sometimes referenced in related contexts as CST13P—in ensuring the fidelity of meiotic recombination. In mouse and human analyses, SHOC1 is shown to act at a key mid‐stage in the crossover formation process. Although initial recombination steps such as homolog pairing and the construction of chromosome axial elements occur normally in SHOC1‐deficient spermatocytes, abnormalities arise later as indicated by reduced MLH1 chromosomal localization and shortened synapsis of the lateral elements. Purified human SHOC1 binds preferentially to branched DNA structures—suggesting a role in stabilizing recombination intermediates—yet lacks appreciable in vitro endonuclease activity despite retaining conserved XPF/MUS81 family domain architecture. Moreover, SHOC1 interacts with key proteins like TEX11 that are involved in coordinating the chromosome structure and axis formation, thus facilitating effective chiasmata and crossover formation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "In a complementary study addressing non-obstructive azoospermia (NOA), bi-allelic variants in SHOC1 were identified in affected patients, and Shoc1-deficient mouse models mirrored the human infertility phenotype. These genetic alterations disrupt homologous pairing and synapsis, and manifest in abnormal localization or expression of recombinases such as DMC1, RAD51, and RPA2. The findings imply that beyond its well-established role in enabling crossovers during the mid-stages of recombination, SHOC1 may also serve a presynaptic function—thereby ensuring proper chromosomal interactions and maintaining genomic integrity during gametogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Michel F Guiraldelli, Anna Felberg, Luciana P Almeida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SHOC1 is a ERCC4-(HhH)2-like protein, integral to the formation of crossover recombination intermediates during mammalian meiosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1007381"}], "href": "https://doi.org/10.1371/journal.pgen.1007381"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29742103"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29742103"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Weili Wang, Lanlan Meng, Jiaxin He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Hum Reprod (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/molehr/gaac015"}], "href": "https://doi.org/10.1093/molehr/gaac015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35485979"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35485979"}]}]}]}
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| Synonyms | CSTT, CTES6 |
| NCBI Gene ID | 164380 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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CST13P has 415 functional associations with biological entities spanning 6 categories (molecular profile, organism, chemical, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA) extracted from 21 datasets.
Click the + buttons to view associations for CST13P from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of CST13P gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of CST13P gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of CST13P gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of CST13P gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of CST13P gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| CTD Gene-Chemical Interactions | chemicals interacting with CST13P gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at CST13P gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of CST13P gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of CST13P gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of CST13P gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of CST13P gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of CST13P gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of CST13P gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of CST13P gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of CST13P gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with CST13P gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of CST13P gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of CST13P gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of CST13P gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at CST13P gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of CST13P gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |