Mks1 - MKS transition zone complex subunit 1 Gene

Mus musculus

Also known as B8d3; avc6

Gene ID: 380718 | Gene type: protein coding

About Mks1

Summary

Involved in branching morphogenesis of an epithelial tube and cilium assembly. Acts upstream of or within several processes, including chordate embryonic development; plasma membrane bounded cell projection organization; and regulation of signal transduction. Located in ciliary transition zone; membrane; and microtubule organizing center. Part of MKS complex. Is expressed in several structures, including brain; esophagus epithelium; liver; lung; and metanephros. Used to study Meckel syndrome; atrioventricular septal defect; and tetralogy of Fallot. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1). [provided by Alliance of Genome Resources, Apr 2022]

Mks1 Products(1)

mRNA	Protein	Name
NM_001039684.3	NP_001034773.2	tectonic-like complex member MKS1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	21565611	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in branching morphogenesis of an epithelial tube	IMP IMP: Inferred from mutant phenotype	17185389	MGI
acts upstream of or within cardiac septum morphogenesis	IMP IMP: Inferred from mutant phenotype	27340223	MGI
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	17185389	MGI
acts upstream of or within common bile duct development	IMP IMP: Inferred from mutant phenotype	19776033	MGI
acts upstream of or within determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	19776033	MGI
acts upstream of or within embryonic brain development	IMP IMP: Inferred from mutant phenotype	23454480	MGI
acts upstream of or within embryonic digit morphogenesis	IMP IMP: Inferred from mutant phenotype	19776033	MGI
acts upstream of or within embryonic skeletal system development	IMP IMP: Inferred from mutant phenotype	21045211	MGI
acts upstream of or within epithelial structure maintenance	IMP IMP: Inferred from mutant phenotype	19776033	MGI
acts upstream of or within head development	IMP IMP: Inferred from mutant phenotype	21045211	MGI
acts upstream of or within inner ear receptor cell stereocilium organization	IMP IMP: Inferred from mutant phenotype	21045211	MGI
acts upstream of or within motile cilium assembly	IMP IMP: Inferred from mutant phenotype	19776033	MGI
acts upstream of or within neural tube closure	IMP IMP: Inferred from mutant phenotype	19776033	MGI
acts upstream of or within non-motile cilium assembly	IMP IMP: Inferred from mutant phenotype	19776033	MGI
acts upstream of or within regulation of Wnt signaling pathway, planar cell polarity pathway	IMP IMP: Inferred from mutant phenotype	21045211	MGI
acts upstream of or within regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	23454480	MGI
acts upstream of or within regulation of smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	21045211	MGI
acts upstream of or within smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation	IMP IMP: Inferred from mutant phenotype	27340223	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
part of MKS complex	IDA IDA: Inferred from direct assay	21725307	MGI
located in centriole	IDA IDA: Inferred from direct assay	24302887	MGI
located in centrosome	IDA IDA: Inferred from direct assay	21045211	MGI
located in ciliary transition zone	IDA IDA: Inferred from direct assay	24302887	MGI
located in ciliary transition zone	IMP IMP: Inferred from mutant phenotype	21725307	MGI
located in membrane	IDA IDA: Inferred from direct assay	22179047	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

tectonic-like complex member MKS1

Meckel syndrome type 1 protein homolog

Meckel syndrome, type 1

meckel syndrome type 1 protein homolog

Mks1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	Mks1	Q5SW45	B9d1	Mus musculus	Q9R1S0	Anti Tag CoIP	21763481

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08482	MKS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Mks1	NCBI	NCBI:54903

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