MOUSE:MKS1

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Mks1
Protein Name(s)	Meckel syndrome type 1 protein homolog
External Links
UniProt	Q5SW45
EMBL	AK030982 AL606805
CCDS	CCDS36271.1
RefSeq	NP_001034773.2
UniGene	Mm.24404
ProteinModelPortal	Q5SW45
BioGrid	237616
IntAct	Q5SW45
STRING	10090.ENSMUSP00000043790
PhosphoSite	Q5SW45
MaxQB	Q5SW45
PRIDE	Q5SW45
Ensembl	ENSMUST00000038196
GeneID	380718
KEGG	mmu:380718
UCSC	uc007kut.1
CTD	54903
MGI	MGI:3584243
eggNOG	NOG306467
GeneTree	ENSGT00510000047471
HOGENOM	HOG000251592
HOVERGEN	HBG079759
InParanoid	Q5SW45
OMA	TFKGERL
OrthoDB	EOG73FQMN
PhylomeDB	Q5SW45
TreeFam	TF323812
Reactome	REACT_269412
NextBio	401161
PRO	PR:Q5SW45
Proteomes	UP000000589
Bgee	Q5SW45
CleanEx	MM_MKS1
ExpressionAtlas	Q5SW45
Genevestigator	Q5SW45
GO	GO:0005814 GO:0036064 GO:0035869 GO:0016020 GO:0036038 GO:0048754 GO:0042384 GO:0060271
InterPro	IPR010796
Pfam	PF07162
PROSITE	PS51381

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
involved_in	GO:0060271	cilium assembly	PMID:21725307^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0048754	branching morphogenesis of an epithelial tube	PMID:17185389^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:21565611^[3]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:17185389^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0036038	MKS complex	PMID:22179047^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0036038	MKS complex	PMID:21725307^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	PMID:21725307^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:2000095	regulation of Wnt signaling pathway, planar cell polarity pathway	PMID:21045211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4887578	P	occurs_in:(EMAPA:16075)\|occurs_in:(EMAPA:17597)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1990403	embryonic brain development	PMID:23454480^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4433029	P	occurs_in:(EMAPA:16894)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1905515	non-motile cilium assembly	PMID:23454480^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1905515	non-motile cilium assembly	PMID:23454480^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4433029	P	occurs_in:(CL:0000057)\|occurs_in:(CL:0000065) occurs_in:(EMAPA:18976)\|occurs_in:(CL:0000065) occurs_in:(EMAPA:32738) occurs_in:(EMAPA:16470)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1905515	non-motile cilium assembly	PMID:21045211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4887578	P	occurs_in:(EMAPA:16075)\|occurs_in:(EMAPA:17373)\|occurs_in:(EMAPA:16530) occurs_in:(CL:0000066)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1905515	non-motile cilium assembly	PMID:19776033^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4410614	P	occurs_in:(EMAPA:16408) occurs_in:(CL:0008019)\|occurs_in:(EMAPA:32866) occurs_in:(CL:0008019)\|occurs_in:(EMAPA:32674) occurs_in:(CL:0000066)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:1901620	regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	PMID:21045211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4887578	P	occurs_in:(EMAPA:16530)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0061009	common bile duct development	PMID:19776033^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4410614	P	occurs_in:(EMAPA:16840)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060828	regulation of canonical Wnt signaling pathway	PMID:23454480^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4433029	P	occurs_in:(CL:0000057)\|occurs_in:(EMAPA:16894)\|occurs_in:(EMAPA:17373)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060411	cardiac septum morphogenesis	PMID:27340223^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4821832	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060322	head development	PMID:21045211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4887578	P	occurs_in:(EMAPA:31858)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060271	cilium assembly	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q9NXB0	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060122	inner ear receptor cell stereocilium organization	PMID:21045211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4887578	P	occurs_in:(EMAPA:17597)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0048706	embryonic skeletal system development	PMID:21045211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4887578	P	occurs_in:(EMAPA:17213)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0044458	motile cilium assembly	PMID:19776033^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4410614	P	occurs_in:(EMAPA:16075)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0042733	embryonic digit morphogenesis	PMID:23454480^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4433029	P	occurs_in:(EMAPA:17458)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0042733	embryonic digit morphogenesis	PMID:21045211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4887578	P	occurs_in:(EMAPA:16779)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0042733	embryonic digit morphogenesis	PMID:19776033^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4410614	P	occurs_in:(EMAPA:17458)	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q9NXB0	C		Seeded From UniProt	complete
part_of	GO:0036038	MKS complex	PMID:22179047^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	PMID:24302887^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:22179047^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0010669	epithelial structure maintenance	PMID:23454480^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4433029	P	occurs_in:(EMAPA:17373)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0010669	epithelial structure maintenance	PMID:21045211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4887578	P	occurs_in:(EMAPA:17207)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0010669	epithelial structure maintenance	PMID:19776033^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4410614	P	occurs_in:(EMAPA:17373)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0008589	regulation of smoothened signaling pathway	PMID:23454480^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4433029	P	occurs_in:(EMAPA:16405)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0008589	regulation of smoothened signaling pathway	PMID:21045211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4887578	P	occurs_in:(EMAPA:16405)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007368	determination of left/right symmetry	PMID:21045211^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4887578	P	occurs_in:(EMAPA:16105)\|occurs_in:(EMAPA:16245)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007368	determination of left/right symmetry	PMID:19776033^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4410614	P	occurs_in:(EMAPA:16105)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007224	smoothened signaling pathway	PMID:27340223^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4821832	P		Seeded From UniProt	complete
part_of	GO:0005814	centriole	PMID:24302887^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:21045211^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000057)	Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q9NXB0	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q9NXB0	C		Seeded From UniProt	complete
acts_upstream_of	GO:0003279	cardiac septum development	PMID:27340223^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4821832	P		Seeded From UniProt	complete
acts_upstream_of	GO:0003271	smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation	PMID:27340223^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4821832	P	occurs_in:(UBERON:0009889)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001843	neural tube closure	PMID:23454480^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4433029	P	occurs_in:(EMAPA:16470)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001843	neural tube closure	PMID:19776033^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:4410614	P	occurs_in:(EMAPA:16470)	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9NXB0 ensembl:ENSP00000376827	P		Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9NXB0 ensembl:ENSP00000376827	C		Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9NXB0 ensembl:ENSP00000376827	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9NXB0 ensembl:ENSP00000376827	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963	C		Seeded From UniProt	complete
part_of	GO:0042995	cell projection	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0966	C		Seeded From UniProt	complete
involved_in	GO:0030030	cell projection organization	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0970	P		Seeded From UniProt	complete
part_of	GO:0005856	cytoskeleton	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0206	C		Seeded From UniProt	complete
part_of	GO:0005929	cilium	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0969	C		Seeded From UniProt	complete
part_of	GO:0005815	microtubule organizing center	GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-SubCell:SL-0048	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 Garcia-Gonzalo, FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat. Genet. 43 776-84 PubMed GONUTS page
↑ ^2.0 ^2.1 Dawe, HR et al. (2007) The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Mol. Genet. 16 173-86 PubMed GONUTS page
↑ Sang, L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145 513-28 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Chih, B et al. (2012) A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat. Cell Biol. 14 61-72 PubMed GONUTS page
↑ ^5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 Cui, C et al. (2011) Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. Dis Model Mech 4 43-56 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 ^6.6 ^6.7 Wheway, G et al. (2013) Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome. Dev. Biol. 377 55-66 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 Weatherbee, SD et al. (2009) A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum. Mol. Genet. 18 4565-75 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 ^8.3 Burnicka-Turek, O et al. (2016) Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum. Mol. Genet. 25 3011-3028 PubMed GONUTS page
↑ ^9.0 ^9.1 Cui, C et al. (2013) Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton. PLoS Biol. 11 e1001720 PubMed GONUTS page

[PMID:21725307-1] 1.0 ^1.1 ^1.2 Garcia-Gonzalo, FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat. Genet. 43 776-84 PubMed GONUTS page

[PMID:17185389-2] 2.0 ^2.1 Dawe, HR et al. (2007) The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Mol. Genet. 16 173-86 PubMed GONUTS page

[PMID:21565611-3] Sang, L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145 513-28 PubMed GONUTS page

[PMID:22179047-4] 4.0 ^4.1 ^4.2 Chih, B et al. (2012) A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain. Nat. Cell Biol. 14 61-72 PubMed GONUTS page

[PMID:21045211-5] 5.00 ^5.01 ^5.02 ^5.03 ^5.04 ^5.05 ^5.06 ^5.07 ^5.08 ^5.09 ^5.10 Cui, C et al. (2011) Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. Dis Model Mech 4 43-56 PubMed GONUTS page

[PMID:23454480-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 ^6.6 ^6.7 Wheway, G et al. (2013) Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome. Dev. Biol. 377 55-66 PubMed GONUTS page

[PMID:19776033-7] 7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 Weatherbee, SD et al. (2009) A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum. Mol. Genet. 18 4565-75 PubMed GONUTS page

[PMID:27340223-8] 8.0 ^8.1 ^8.2 ^8.3 Burnicka-Turek, O et al. (2016) Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum. Mol. Genet. 25 3011-3028 PubMed GONUTS page

[PMID:24302887-9] 9.0 ^9.1 Cui, C et al. (2013) Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton. PLoS Biol. 11 e1001720 PubMed GONUTS page

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MOUSE:MKS1

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