KIAA0753 Gene

Name	KIAA0753
Description	This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n KIAA0753 is a centrosomal and pericentriolar satellite protein that plays a critical role in primary ciliogenesis and the regulation of key signaling pathways such as Sonic Hedgehog (SHH) and WNT. Its normal function depends on proper recruitment to centrioles—often mediated through an interaction with other centrosomal proteins such as CEP120—which is essential not only for the assembly and maintenance of primary cilia but also for appropriate cellular signaling. Disruption of KIAA0753 function leads to defective ciliogenesis that in turn perturbs downstream signaling pathways and adversely impacts developmental processes. For instance, altered KIAA0753 activity is implicated in Joubert syndrome and skeletal ciliopathies, as evidenced by abnormal proliferative and hypertrophic zones in growth plates and altered cartilage patterning. Moreover, in the developing cerebellum, failure to recruit KIAA0753 via CEP120 contributes to the impaired exit of granule neuron progenitors from the germinal zone and delays neuronal differentiation. Collectively, these findings underscore the pivotal role of KIAA0753 in both ciliary formation and the orchestration of developmental pathways that underlie normal neurogenesis and skeletal formation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Joshi Stephen, Thierry Vilboux, Luhe Mian, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-017-1765-z"}], "href": "https://doi.org/10.1007/s00439-017-1765-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28220259"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28220259"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "A Hammarsjö, Z Wang, R Vaz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-017-15442-1"}], "href": "https://doi.org/10.1038/s41598-017-15442-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29138412"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29138412"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Katherine A Inskeep, Yuri A Zarate, Danielle Monteil, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.62497"}], "href": "https://doi.org/10.1002/ajmg.a.62497"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34523780"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34523780"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Ataf H Sabir, Jameela Sheikh, Vasantha Gowda, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Dysmorphol (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/MCD.0000000000000373"}], "href": "https://doi.org/10.1097/MCD.0000000000000373"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34016807"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34016807"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Chia-Hsiang Chang, Ting-Yu Chen, I-Ling Lu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Dev (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gad.348636.121"}], "href": "https://doi.org/10.1101/gad.348636.121"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34711653"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34711653"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Emilien Faudi, Elise Brischoux-Boucher, Céline Huber, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2019.103823"}], "href": "https://doi.org/10.1016/j.ejmg.2019.103823"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31816441"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31816441"}]}]}]}
Synonyms	OFIP, MNR
Proteins	K0753_HUMAN
NCBI Gene ID	9851
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

KIAA0753 has 5,605 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 105 datasets.

Click the + buttons to view associations for KIAA0753 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

KIAA0753 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 KIAA0753 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 KIAA0753 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 KIAA0753 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 KIAA0753 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 KIAA0753 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 KIAA0753 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 KIAA0753 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 KIAA0753 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 KIAA0753 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 KIAA0753 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 KIAA0753 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with KIAA0753 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 KIAA0753 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of KIAA0753 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 KIAA0753 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 KIAA0753 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of KIAA0753 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing KIAA0753 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 KIAA0753 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing KIAA0753 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing KIAA0753 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing KIAA0753 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 KIAA0753 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 KIAA0753 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 KIAA0753 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with KIAA0753 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with KIAA0753 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with KIAA0753 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of KIAA0753 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 KIAA0753 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with KIAA0753 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 KIAA0753 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 KIAA0753 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 KIAA0753 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with KIAA0753 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 KIAA0753 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 KIAA0753 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of KIAA0753 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 KIAA0753 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of KIAA0753 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.