MKS1 Gene

Name	Meckel syndrome, type 1
Description	The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMKS1 encodes a ciliary protein that contains a conserved B9 domain and localizes to basal bodies and the transition zone, where it is a key constituent of a protein complex that regulates ciliogenesis. Multiple studies have shown that proper MKS1 localization is essential for establishing the ciliary diffusion barrier, modulating centrosome duplication, and ensuring the correct assembly and length of the primary cilium – all of which are crucial for normal epithelial morphogenesis and signal transduction."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in MKS1 are central to a spectrum of ciliopathies, most notably Meckel–Gruber syndrome (MKS) – a lethal, multisystem developmental disorder characterized by features such as neural tube defects, cystic renal dysplasia, and polydactyly – as well as milder phenotypes like Joubert syndrome. Genotype–phenotype correlation studies have identified that specific splicing defects and missense mutations in MKS1 are associated with distinct clinical presentations. Furthermore, MKS1 can genetically interact with other ciliary genes—including those implicated in Bardet–Biedl syndrome—to modify disease expressivity, highlighting its critical and nuanced role in human developmental disorders."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "6", "end_ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its structural roles, MKS1 is instrumental in integrating ciliary architecture with key developmental signaling pathways. Functional studies in zebrafish and mouse models indicate that loss-of-function mutations in MKS1 can disrupt early embryonic processes such as gastrulation and interfere with Hedgehog signaling in the second heart field, leading to congenital defects— including atrioventricular septal defects—without necessarily affecting left–right axis determination. These findings underscore the role of MKS1 not only as a structural scaffold at the ciliary base but also as a modulator of signaling events critical for normal organogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}, {"type": "fg_f", "ref": "13"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Mira Kyttälä, Jonna Tallila, Riitta Salonen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1714"}], "href": "https://doi.org/10.1038/ng1714"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16415886"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16415886"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Helen R Dawe, Ursula M Smith, Andrew R Cullinane, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddl459"}], "href": "https://doi.org/10.1093/hmg/ddl459"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17185389"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17185389"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Nathan J Bialas, Peter N Inglis, Chunmei Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Sci (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/jcs.028621"}], "href": "https://doi.org/10.1242/jcs.028621"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19208769"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19208769"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Rachaneekorn Tammachote, Cynthia J Hommerding, Rachel M Sinders, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddp272"}], "href": "https://doi.org/10.1093/hmg/ddp272"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19515853"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19515853"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Misato Okazaki, Takuya Kobayashi, Shuhei Chiba, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.E20-03-0208"}], "href": "https://doi.org/10.1091/mbc.E20-03-0208"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32726168"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32726168"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Mark B Consugar, Vickie J Kubly, Donna J Lager, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-007-0341-3"}], "href": "https://doi.org/10.1007/s00439-007-0341-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17377820"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17377820"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Rana Khaddour, Ursula Smith, Lekbir Baala, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.9489"}], "href": "https://doi.org/10.1002/humu.9489"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17397051"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17397051"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Valeska Frank, Nadina Ortiz Brüchle, Silke Mager, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.9496"}], "href": "https://doi.org/10.1002/humu.9496"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17437276"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17437276"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "B Auber, P Burfeind, S Herold, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1399-0004.2007.00880.x"}], "href": "https://doi.org/10.1111/j.1399-0004.2007.00880.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17935508"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17935508"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Carmen C Leitch, Norann A Zaghloul, Erica E Davis, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.97"}], "href": "https://doi.org/10.1038/ng.97"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18327255"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18327255"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Marta Romani, Alessia Micalizzi, Ichraf Kraoua, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Orphanet J Rare Dis (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1750-1172-9-72"}], "href": "https://doi.org/10.1186/1750-1172-9-72"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24886560"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24886560"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Saadullah Khan, Imran Ullah, Abdul Nasir, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.37934"}], "href": "https://doi.org/10.1002/ajmg.a.37934"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27570071"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27570071"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Gisela G Slaats, Christine R Isabella, Hester Y Kroes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MKS1 regulates ciliary INPP5E levels in Joubert syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2015-103250"}], "href": "https://doi.org/10.1136/jmedgenet-2015-103250"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26490104"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26490104"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Ozanna Burnicka-Turek, Jeffrey D Steimle, Wenhui Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddw155"}], "href": "https://doi.org/10.1093/hmg/ddw155"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27340223"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27340223"}]}]}]}
Synonyms	JBTS28, POC12, BBS13
Proteins	MKS1_HUMAN
NCBI Gene ID	54903
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MKS1 has 6,723 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 MKS1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MKS1 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 MKS1 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 MKS1 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 MKS1 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 MKS1 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 MKS1 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 MKS1 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 MKS1 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 MKS1 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 MKS1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of MKS1 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 MKS1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with MKS1 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 MKS1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MKS1 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 MKS1 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 MKS1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with MKS1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of MKS1 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 MKS1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MKS1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MKS1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with MKS1 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 MKS1 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 MKS1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MKS1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with MKS1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of MKS1 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 MKS1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving MKS1 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving MKS1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with MKS1 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 MKS1 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 MKS1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with MKS1 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 MKS1 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 MKS1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of MKS1 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 MKS1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with MKS1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of MKS1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.