KDF1 Gene

Name keratinocyte differentiation factor 1
Description Predicted to be involved in several processes, including positive regulation of epidermal cell differentiation; regulation of epidermal cell division; and skin epidermis development. Predicted to act upstream of or within keratinocyte development and negative regulation of keratinocyte proliferation. Predicted to be located in cytoplasm. Predicted to be active in cell junction. Implicated in ectodermal dysplasia 12. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KDF1 (Keratinocyte Differentiation Factor 1) is emerging as a pivotal regulator of epidermal homeostasis by governing both cell proliferation and differentiation. In epidermal progenitor cells, KDF1 functions to restrain excessive proliferation—partly through inhibition of factors such as p63—while in their differentiating progeny it actively promotes terminal differentiation via interactions with regulators including Stratifin. In line with this, KDF1 also associates with IKKα, and by engaging with the deubiquitinating protease USP7, it stabilizes IKKα to facilitate proper epidermal differentiation and skin tissue homeostasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Beyond its central role in skin biology, mutations in KDF1 have been linked to developmental disorders affecting ectodermal derivatives. Pathogenic variants in KDF1 are associated with hypohidrotic ectodermal dysplasia as well as with non‐syndromic tooth agenesis, underscoring its importance in craniofacial and dental development."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, recent findings implicate KDF1 in tumor suppression; diminished expression of KDF1 in clear cell renal cell carcinoma correlates with advanced tumor grade and poorer patient survival, while restored expression suppresses tumor proliferation, migration, and invasion."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, differential expression of KDF1 during distinct stages of the hair cycle—with highest transcript levels noted during telogen—suggests an additional role in regulating hair follicle biology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, KDF1 functions as a multifaceted regulator essential for maintaining the balance between proliferation and differentiation in the epidermis, for proper ectodermal development, and for exerting tumor suppressive effects. These integrated roles underscore its significance in both developmental biology and disease.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sunjin Lee, Yong Kong, Scott D Weatherbee "}, {"type": "b", "children": [{"type": "t", "text": "Forward genetics identifies Kdf1/1810019J16Rik as an essential regulator of the proliferation-differentiation decision in epidermal progenitor cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Biol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ydbio.2013.09.022"}], "href": "https://doi.org/10.1016/j.ydbio.2013.09.022"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24075906"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24075906"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yuanyuan Li, Liangfeng Tang, Jiping Yue, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of epidermal differentiation through KDF1-mediated deubiquitination of IKKα."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "EMBO Rep (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.15252/embr.201948566"}], "href": "https://doi.org/10.15252/embr.201948566"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32239614"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32239614"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "J J LaPres, L G Hudson "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a functional determinant of differentiation-dependent expression in the involucrin gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (1996)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.271.38.23154"}], "href": "https://doi.org/10.1074/jbc.271.38.23154"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "8798509"}], "href": "https://pubmed.ncbi.nlm.nih.gov/8798509"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Hanan E Shamseldin, Ola Khalifa, Yousef M Binamer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-016-1741-z"}], "href": "https://doi.org/10.1007/s00439-016-1741-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27838789"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27838789"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Binghui Zeng, Hui Lu, Xue Xiao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KDF1 is a novel candidate gene of non-syndromic tooth agenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Oral Biol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.archoralbio.2018.10.025"}], "href": "https://doi.org/10.1016/j.archoralbio.2018.10.025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30384154"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30384154"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Ondrej Bonczek, Premysl Krejci, Lydie Izakovicova-Holla, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tooth agenesis: What do we know and is there a connection to cancer?"}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cge.13892"}], "href": "https://doi.org/10.1111/cge.13892"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33249565"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33249565"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Jing-Min Zheng, Mei-Fu Gan, Hong-Yuan Yu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KDF1, a Novel Tumor Suppressor in Clear Cell Renal Cell Carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Front Oncol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3389/fonc.2021.686678"}], "href": "https://doi.org/10.3389/fonc.2021.686678"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34136411"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34136411"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Xue Yang, Yan Cui, Jing Yue, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The histological characteristics, age-related thickness change of skin, and expression of the HSPs in the skin during hair cycle in yak (Bos grunniens)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0176451"}], "href": "https://doi.org/10.1371/journal.pone.0176451"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28463974"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28463974"}]}]}]}
Synonyms ECTD12, C1ORF172
Proteins KDF1_HUMAN
NCBI Gene ID 126695
API
Download Associations
Predicted Functions View KDF1's ARCHS4 Predicted Functions.
Co-expressed Genes View KDF1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View KDF1's ARCHS4 Predicted Functions.

Functional Associations

KDF1 has 3,594 functional associations with biological entities spanning 8 categories (molecular profile, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 76 datasets.

Click the + buttons to view associations for KDF1 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 KDF1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles tissues with high or low expression of KDF1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse 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 KDF1 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 Microarray tissue samples with high or low expression of KDF1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of KDF1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Human Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of KDF1 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 KDF1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of KDF1 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 KDF1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
CCLE Cell Line Proteomics Cell lines associated with KDF1 protein from the CCLE Cell Line Proteomics dataset.
CellMarker Gene-Cell Type Associations cell types associated with KDF1 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 KDF1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of KDF1 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 KDF1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
ClinVar Gene-Phenotype Associations 2025 phenotypes associated with KDF1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of KDF1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing KDF1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing KDF1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Experimental Protein Localization Evidence Scores cellular components containing KDF1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 cellular components containing KDF1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with KDF1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
CTD Gene-Disease Associations diseases associated with KDF1 gene/protein from the curated CTD Gene-Disease Associations dataset.
DeepCoverMOA Drug Mechanisms of Action small molecule perturbations with high or low expression of KDF1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by KDF1 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 KDF1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with KDF1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with KDF1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at KDF1 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 KDF1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of KDF1 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 KDF1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing KDF1 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of KDF1 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 KDF1 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of KDF1 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GO Biological Process Annotations 2015 biological processes involving KDF1 gene from the curated GO Biological Process Annotations 2015 dataset.
GO Biological Process Annotations 2023 biological processes involving KDF1 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving KDF1 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2015 cellular components containing KDF1 protein from the curated GO Cellular Component Annotations 2015 dataset.
GTEx eQTL 2025 SNPs regulating expression of KDF1 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of KDF1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of KDF1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of KDF1 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
GTEx Tissue-Specific Aging Signatures tissue samples with high or low expression of KDF1 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with KDF1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
HPA Tissue Gene Expression Profiles tissues with high or low expression of KDF1 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of KDF1 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of KDF1 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
HuBMAP Azimuth Cell Type Annotations cell types associated with KDF1 gene from the HuBMAP Azimuth Cell Type Annotations dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for KDF1 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of KDF1 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 KDF1 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 KDF1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Kinase Library Serine Threonine Kinome Atlas kinases that phosphorylate KDF1 protein from the Kinase Library Serine Threonine Atlas dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of KDF1 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles cell lines with KDF1 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain KDF1 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by KDF1 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MiRTarBase microRNA Targets microRNAs targeting KDF1 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.
MPO Gene-Phenotype Associations phenotypes of transgenic mice caused by KDF1 gene mutations from the MPO Gene-Phenotype Associations dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of KDF1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations gene perturbations changing expression of KDF1 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PFOCR Pathway Figure Associations 2023 pathways involving KDF1 protein from the PFOCR Pathway Figure Associations 2023 dataset.
PFOCR Pathway Figure Associations 2024 pathways involving KDF1 protein from the Wikipathways PFOCR 2024 dataset.
Roadmap Epigenomics Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at KDF1 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of KDF1 gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of KDF1 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of KDF1 gene from the RummaGEO Gene Perturbation Signatures dataset.
Sanger Dependency Map Cancer Cell Line Proteomics cell lines associated with KDF1 protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset.
TargetScan Predicted Conserved microRNA Targets microRNAs regulating expression of KDF1 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of KDF1 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 KDF1 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of KDF1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of KDF1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of KDF1 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 KDF1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.