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MKS1 - Wikipedia

From Wikipedia, the free encyclopedia

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)^[1]

Band	17q22	Start	58,205,441 bp^[1]
Band	17q22	End	58,219,605 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 11 (mouse)^[2]

Band	11\|11 C	Start	87,744,041 bp^[2]
Band	11\|11 C	End	87,754,629 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

BioGPS

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

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

Location (UCSC)

Chr 17: 58.21 – 58.22 Mb

Chr 11: 87.74 – 87.75 Mb

PubMed search

^[3]

^[4]

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.^[5]

Function

The MKS1 protein along with meckelin are part of the flagellar apparatus basal body proteome and are required for cilium formation.^[6]

Clinical significance

Mutations in the MKS1 are associated with Meckel syndrome^[5]^[7] or Bardet–Biedl syndrome.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000011143 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034121 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestilä M (February 2006). "MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome". Nat. Genet. 38 (2): 155–7. doi:10.1038/ng1714. PMID 16415886. S2CID 10676530.
^ Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA (January 2007). "The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation". Hum. Mol. Genet. 16 (2): 173–86. doi:10.1093/hmg/ddl459. PMID 17185389.
^ Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH, Torres VE, Breuning MH, Harris PC (June 2007). "Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3". Hum. Genet. 121 (5): 591–9. doi:10.1007/s00439-007-0341-3. PMID 17377820. S2CID 11815792.
^ Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N (April 2008). "Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome". Nat. Genet. 40 (4): 443–8. doi:10.1038/ng.97. PMID 18327255. S2CID 5282929.

External links

GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome

v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

Categories:

Hidden categories:

Function

Clinical significance

References

Further reading

External links