MKS1

MKS1
Identifiers
Aliases	MKS1, BBS13, MES, MKS, POC12, Meckel syndrome, type 1, JBTS28, MKS transition zone complex subunit 1
External IDs	OMIM: 609883; MGI: 3584243; HomoloGene: 9833; GeneCards: MKS1; OMA:MKS1 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	58,219,605 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	87,754,629 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; olfactory zone of nasal mucosa; ; left ovary; ; right ovary; ; ventricular zone; ; body of uterus; ; right adrenal gland; ; ganglionic eminence; ; sural nerve; ; right adrenal cortex;
	Top expressed in
	neural layer of retina; ; otic vesicle; ; medullary collecting duct; ; renal corpuscle; ; tail of embryo; ; spermatocyte; ; ventricular zone; ; lens; ; parotid gland; ; lacrimal gland;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding;
Cellular component	cytoplasm; ciliary basal body; cytosol; centrosome; cell projection; MKS complex; membrane; cilium; ciliary transition zone; microtubule organizing center; centriole; cytoskeleton;
Biological process	epithelial structure maintenance; inner ear receptor cell stereocilium organization; regulation of Wnt signaling pathway, planar cell polarity pathway; regulation of canonical Wnt signaling pathway; motile cilium assembly; embryonic digit morphogenesis; head development; embryonic skeletal system development; regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning; regulation of smoothened signaling pathway; common bile duct development; neural tube closure; determination of left/right symmetry; embryonic brain development; cell projection organization; branching morphogenesis of an epithelial tube; cilium assembly; ciliary basal body-plasma membrane docking; non-motile cilium assembly; smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation; cardiac septum development; smoothened signaling pathway; cardiac septum morphogenesis;
	Sources:Amigo / QuickGO
Orthologs
	54903
	380718
	ENSG00000011143
	ENSMUSG00000034121
	Q9NXB0
	Q5SW45
	NM_001165927; NM_017777; NM_001321268; NM_001321269; NM_001330397
	NM_001039684
	NP_001159399; NP_001308197; NP_001308198; NP_001317326; NP_060247
	NP_001034773
	Wikidata
View/Edit Human	View/Edit Mouse

Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.