| Name | KH homology domain containing 1-like |
| Description | Predicted to enable RNA binding activity and identical protein binding activity. Predicted to act upstream of or within positive regulation of cysteine-type endopeptidase activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Although none of the six provided studies directly examine or mention the gene KHDC1L, together they define an important regulatory landscape for transcription factors and RNA‐based regulatory molecules in both skeletal muscle pathology and early human development. In several studies of facioscapulohumeral muscular dystrophy (FSHD), transient expression of double homeobox factors such as DUX4 and its homolog DUX4c was shown to disrupt normal myogenic differentiation and proliferation. DUX4 activates and represses target genes that, in muscle cells, result in inhibition of satellite cell proliferation and differentiation, downregulation of the myogenic regulator PAX7, and alterations in inflammatory, cell cycle, and energy pathways—findings that serve as valuable biomarkers for disease severity and progression."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " In parallel, high-resolution transcriptomic analyses performed on human preimplantation embryos have uncovered a complex developmental program that involves a range of previously unannotated transcripts and alternative promoter usage, suggesting that similarly structured regulatory proteins could operate during early developmental transitions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Finally, studies on induced pluripotent stem cells (iPSCs) have demonstrated that distinct pluripotent states recapitulate the human preimplantation epiblast, thereby providing a framework for understanding transcriptional regulation across developmental stages."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Although KHDC1L itself is not discussed in these reports, its membership in a family of genes that generally encode proteins with RNA‐binding KH domains suggests a potential role in post‐transcriptional regulation. In related developmental and myogenic contexts, where precise control of gene expression is critical, it is conceivable that KHDC1L may participate in regulating RNA stability, localization, or translation. The disruption of transcriptional networks observed in FSHD and during early human development highlights the importance of RNA‐binding proteins and alternative transcript usage, thereby motivating future studies to investigate whether KHDC1L contributes to these processes.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Paul Knopp, Yvonne D Krom, Christopher R S Banerji, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.180372"}], "href": "https://doi.org/10.1242/jcs.180372"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27744317"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27744317"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Vishakha Sharma, Naoe Harafuji, Alexandra Belayew, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0064691"}], "href": "https://doi.org/10.1371/journal.pone.0064691"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23717650"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23717650"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Christopher R S Banerji, Peter S Zammit "}, {"type": "b", "children": [{"type": "t", "text": "PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddz043"}], "href": "https://doi.org/10.1093/hmg/ddz043"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31067297"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31067297"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Jeffrey M Statland, Bharati Shah, Don Henderson, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Muscle Nerve (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/mus.24621"}], "href": "https://doi.org/10.1002/mus.24621"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25704033"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25704033"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Virpi Töhönen, Shintaro Katayama, Liselotte Vesterlund, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel PRD-like homeodomain transcription factors and retrotransposon elements in early human development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncomms9207"}], "href": "https://doi.org/10.1038/ncomms9207"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26360614"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26360614"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Stéphanie Kilens, Dimitri Meistermann, Diego Moreno, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Parallel derivation of isogenic human primed and naive induced pluripotent stem cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-017-02107-w"}], "href": "https://doi.org/10.1038/s41467-017-02107-w"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29367672"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29367672"}]}]}]}
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| Proteins | KHDCL_HUMAN |
| NCBI Gene ID | 100129128 |
| 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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KHDC1L has 1,961 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 58 datasets.
Click the + buttons to view associations for KHDC1L from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of KHDC1L gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of KHDC1L gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of KHDC1L gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of KHDC1L gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of KHDC1L gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of KHDC1L gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of KHDC1L gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of KHDC1L gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of KHDC1L 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 KHDC1L gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with KHDC1L gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of KHDC1L gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of KHDC1L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of KHDC1L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of KHDC1L gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of KHDC1L gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with KHDC1L protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of KHDC1L gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with KHDC1L gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by KHDC1L gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with KHDC1L gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at KHDC1L 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 KHDC1L gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of KHDC1L gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing KHDC1L from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing KHDC1L from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of KHDC1L 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 KHDC1L 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 KHDC1L 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 KHDC1L 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 KHDC1L gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving KHDC1L gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by KHDC1L gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of KHDC1L gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of KHDC1L gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with KHDC1L gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with KHDC1L gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of KHDC1L gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of KHDC1L gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of KHDC1L gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of KHDC1L gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of KHDC1L 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 KHDC1L gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of KHDC1L gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of KHDC1L gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of KHDC1L gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of KHDC1L gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of KHDC1L gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at KHDC1L gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of KHDC1L gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of KHDC1L gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of KHDC1L gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with KHDC1L protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of KHDC1L gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of KHDC1L gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of KHDC1L protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of KHDC1L protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with KHDC1L protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
