MKS1

MKS1
Identifiers
Aliases	MKS1, BBS13, MES, MKS, POC12, Meckel syndrome, type 1
External IDs	MGI: 3584243 HomoloGene: 9833 GeneCards: MKS1
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 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 morphogenesis • ciliary basal body docking • non-motile cilium assembly Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	54903	380718
Ensembl	ENSG00000011143	ENSMUSG00000034121
UniProt	Q9NXB0	Q5SW45
RefSeq (mRNA)	NM_001165927 NM_017777 NM_001321268 NM_001321269 NM_001330397	NM_001039684
RefSeq (protein)	NP_001159399 NP_001308197 NP_001308198 NP_001317326 NP_060247	NP_001034773.2 NP_001034773
Location (UCSC)	Chr 17: 58.21 – 58.22 Mb	Chr 11: 87.85 – 87.86 Mb
PubMed search

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_001034773.2
NP_001034773

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

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Wikipedia