HUMAN:MKS1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	MKS1
Protein Name(s)	Meckel syndrome type 1 protein
External Links
UniProt	Q9NXB0
EMBL	DQ185029 AK000352 AK310815 AC005962 BC010061 CR457229
CCDS	CCDS11603.2 CCDS54148.1
RefSeq	NP_001159399.1 NP_060247.2
UniGene	Hs.408843
ProteinModelPortal	Q9NXB0
BioGrid	120249
IntAct	Q9NXB0
MINT	MINT-1415211
STRING	9606.ENSP00000376827
PhosphoSite	Q9NXB0
DMDM	92087008
MaxQB	Q9NXB0
PaxDb	Q9NXB0
PRIDE	Q9NXB0
Ensembl	ENST00000393119 ENST00000537529
GeneID	54903
KEGG	hsa:54903
UCSC	uc002ivr.2
CTD	54903
GeneCards	GC17M056282
GeneReviews	MKS1
HGNC	HGNC:7121
HPA	HPA021372 HPA021812
MIM	249000 609883 615990
neXtProt	NX_Q9NXB0
Orphanet	110 475 220493 564
PharmGKB	PA30840
eggNOG	NOG306467
GeneTree	ENSGT00510000047471
HOGENOM	HOG000251592
HOVERGEN	HBG079759
InParanoid	Q9NXB0
OMA	TFKGERL
OrthoDB	EOG73FQMN
PhylomeDB	Q9NXB0
TreeFam	TF323812
Reactome	REACT_267634
GeneWiki	MKS1
GenomeRNAi	54903
NextBio	57936
PRO	PR:Q9NXB0
Proteomes	UP000005640
Bgee	Q9NXB0
CleanEx	HS_MKS1
ExpressionAtlas	Q9NXB0
Genevestigator	Q9NXB0
GO	GO:0005814 GO:0005813 GO:0036064 GO:0005737 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	Notes	Status
involved_in	GO:0060271	cilium assembly	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q5SW45	P	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	PMID:19515853^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:19208769^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0036064	ciliary basal body	PMID:19515853^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0036038	MKS complex	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q5SW45	C	Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:19208769^[2]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005813	centrosome	PMID:19515853^[1]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:17185389^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:2000095	regulation of Wnt signaling pathway, planar cell polarity pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:1990403	embryonic brain development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:1905515	non-motile cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:1901620	regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0061009	common bile duct development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0060828	regulation of canonical Wnt signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0060411	cardiac septum morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0060322	head development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0060271	cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0060122	inner ear receptor cell stereocilium organization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0048754	branching morphogenesis of an epithelial tube	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0048706	embryonic skeletal system development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0044458	motile cilium assembly	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0042733	embryonic digit morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
part_of	GO:0036038	MKS complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	C	Seeded From UniProt	complete
part_of	GO:0035869	ciliary transition zone	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	C	Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	C	Seeded From UniProt	complete
involved_in	GO:0010669	epithelial structure maintenance	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0008589	regulation of smoothened signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0007368	determination of left/right symmetry	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0007224	smoothened signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
part_of	GO:0005814	centriole	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	C	Seeded From UniProt	complete
part_of	GO:0005813	centrosome	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	C	Seeded From UniProt	complete
involved_in	GO:0003279	cardiac septum development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0003271	smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0001843	neural tube closure	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q5SW45 ensembl:ENSMUSP00000043790	P	Seeded From UniProt	complete
involved_in	GO:0097711	ciliary basal body-plasma membrane docking	Reactome:R-HSA-5620912	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-5638009 Reactome:R-HSA-5626681 Reactome:R-HSA-5617816	ECO:0000304	author statement supported by traceable reference used in manual assertion		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: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
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: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: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 Tammachote, R et al. (2009) Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Hum. Mol. Genet. 18 3311-23 PubMed GONUTS page
↑ ^2.0 ^2.1 Bialas, NJ et al. (2009) Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. J. Cell. Sci. 122 611-24 PubMed GONUTS page
↑ 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:19515853-1] 1.0 ^1.1 ^1.2 Tammachote, R et al. (2009) Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Hum. Mol. Genet. 18 3311-23 PubMed GONUTS page

[PMID:19208769-2] 2.0 ^2.1 Bialas, NJ et al. (2009) Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. J. Cell. Sci. 122 611-24 PubMed GONUTS page

[PMID:17185389-3] 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

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HUMAN:MKS1

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