KPTN Gene

Name	kaptin (actin binding protein)
Description	This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The "}, {"type": "b", "children": [{"type": "t", "text": "KPTN"}]}, {"type": "t", "text": " gene encodes kaptin, an actin‐binding protein that performs dual functions in cellular physiology. On one hand, kaptin is an integral component of the KICSTOR complex, which is required for the proper inhibition of mTOR complex 1 (mTORC1) signaling during amino acid or glucose deprivation by recruiting and stabilizing the GATOR1 complex at the lysosomal surface."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " On the other hand, kaptin plays a crucial role in neurodevelopment. Mutations in KPTN have been causally linked to a syndrome characterized by macrocephaly, neurodevelopmental delay, and seizures, thereby implicating dysfunctional actin cytoskeletal dynamics in abnormal neuromorphogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "2", "end_ref": "4"}]}, {"type": "t", "text": " In addition, independent investigations have localized kaptin to dynamic actin structures in platelets, further underlining its role in the regulation of the actin cytoskeleton."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Moreover, transcriptome‐wide association analyses have revealed that KPTN may also be involved in metabolic regulation, since knockdown experiments in human hepatocytes resulted in reduced secretion of APOB100 and lipids."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Finally, analyses of chromosomal deletions implicate the KPTN coding region as a candidate for hearing loss, thereby extending the spectrum of phenotypes associated with its disruption."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Rachel L Wolfson, Lynne Chantranupong, Gregory A Wyant, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature21423"}], "href": "https://doi.org/10.1038/nature21423"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28199306"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28199306"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Emma L Baple, Reza Maroofian, Barry A Chioza, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2013.10.001"}], "href": "https://doi.org/10.1016/j.ajhg.2013.10.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24239382"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24239382"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Pedro H Lucena, Giulia Armani-Franceschi, Ana Cecília Bispo-Torres, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.61492"}], "href": "https://doi.org/10.1002/ajmg.a.61492"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31999056"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31999056"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Sander Pajusalu, Tiia Reimand, Katrin Õunap "}, {"type": "b", "children": [{"type": "t", "text": "Novel homozygous mutation in KPTN gene causing a familial intellectual disability-macrocephaly syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.37105"}], "href": "https://doi.org/10.1002/ajmg.a.37105"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25847626"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25847626"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yongzhong Yu, Wenbo Zhao, Qiang Tan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural Features of a Conformation-dependent Antigen Epitope on ORFV-B2L Recognized by the 2E4 mAb."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-019-52446-5"}], "href": "https://doi.org/10.1038/s41598-019-52446-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31695071"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31695071"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "E L Bearer, J M Prakash, Z Li "}, {"type": "b", "children": [{"type": "t", "text": "Actin dynamics in platelets."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int Rev Cytol (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0074-7696(02)17014-8"}], "href": "https://doi.org/10.1016/s0074-7696(02"}, {"type": "t", "text": "17014-8) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12019562"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12019562"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ling Li, Zhifen Chen, Moritz von Scheidt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Transcriptome-wide association study of coronary artery disease identifies novel susceptibility genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Basic Res Cardiol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00395-022-00917-8"}], "href": "https://doi.org/10.1007/s00395-022-00917-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35175464"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35175464"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Teresinha Leal, Joris Andrieux, Bénédicte Duban-Bedu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Array-CGH detection of a de novo 0.8Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic features."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2008.09.007"}], "href": "https://doi.org/10.1016/j.ejmg.2008.09.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19022414"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19022414"}]}]}]}
Synonyms	2E4, MRT41
Proteins	KPTN_HUMAN
NCBI Gene ID	11133
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

KPTN has 5,496 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 110 datasets.

Click the + buttons to view associations for KPTN from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

KPTN Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of KPTN 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 KPTN 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 KPTN 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 KPTN gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of KPTN 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 KPTN 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 KPTN 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 KPTN 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 KPTN 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 KPTN gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of KPTN 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 KPTN gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with KPTN protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of KPTN gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of KPTN 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 KPTN gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with KPTN gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with KPTN gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing KPTN protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of KPTN gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing KPTN protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing KPTN protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing KPTN 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 KPTN 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	cellular components co-occuring with KPTN protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with KPTN 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 KPTN gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with KPTN gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with KPTN gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with KPTN gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of KPTN 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 KPTN gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving KPTN gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with KPTN gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with KPTN gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with KPTN 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 KPTN gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with KPTN 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 KPTN 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 KPTN gene from the ENCODE Transcription Factor Binding Site Profiles dataset.