TMEM67

Meckelin is a protein that in humans is encoded by the TMEM67 gene.[5][6][7]

TMEM67
Identifiers
Aliases	TMEM67, JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, transmembrane protein 67
External IDs	OMIM: 609884 MGI: 1923928 HomoloGene: 71886 GeneCards: TMEM67
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q22.1 Start 93,754,844 bp[1] End 93,819,234 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 A1 Start 12,039,355 bp[2] End 12,090,020 bp[2]
Gene ontology Molecular function • unfolded protein binding • filamin binding • GO:0001948 protein binding Cellular component • cytoplasm • integral component of membrane • centrosome • cell projection • MKS complex • endoplasmic reticulum membrane • membrane • cell membrane • cilium • endoplasmic reticulum • ciliary membrane • cytoskeleton • cytoplasmic vesicle membrane • ciliary transition zone Biological process • negative regulation of centrosome duplication • cell projection organization • ubiquitin-dependent ERAD pathway • cilium morphogenesis • ciliary basal body docking Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	91147	329795
Ensembl	ENSG00000164953	ENSMUSG00000049488
UniProt	Q5HYA8	Q8BR76
RefSeq (mRNA)	NM_001142301 NM_153704	NM_177861
RefSeq (protein)	NP_001135773 NP_714915	NP_808529
Location (UCSC)	Chr 8: 93.75 – 93.82 Mb	Chr 4: 12.04 – 12.09 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene.[7]

Clinical significance

Defects in this gene are a cause of Meckel syndrome type 3 (MKS3),[6] nephronophthisis[8][9] and Joubert syndrome type 6 (JBTS6).[10]

See also

• Meckel syndrome

References

1. GRCh38: Ensembl release 89: ENSG00000164953 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000049488 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Morgan NV, Gissen P, Sharif SM, Baumber L, Sutherland J, Kelly DA, Aminu K, Bennett CP, Woods CG, Mueller RF, Trembath RC, Maher ER, Johnson CA (Oct 2002). "A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24". Hum Genet. 111 (4–5): 456–61. doi:10.1007/s00439-002-0817-0. PMID 12384791. S2CID 31669120.
6. Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik SS, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, Gattone VH II, Harris PC, Johnson CA (Jan 2006). "The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat". Nat Genet. 38 (2): 191–6. doi:10.1038/ng1713. PMID 16415887. S2CID 975892.
7. "Entrez Gene: TMEM67 transmembrane protein 67".
8. Boichis H, Passwell J, David R, Miller H (January 1973). "Congenital hepatic fibrosis and nephronophthisis. A family study". Q. J. Med. 42 (165): 221–33. PMID 4688793.
9. Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F (October 2009). "Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)". J. Med. Genet. 46 (10): 663–70. doi:10.1136/jmg.2009.066613. PMID 19508969.
10. Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T (January 2007). "The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome". Am. J. Hum. Genet. 80 (1): 186–94. doi:10.1086/510499. PMC 1785313. PMID 17160906.

Further reading

• Khaddour R, Smith U, Baala L, et al. (2007). "Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online". Hum. Mutat. 28 (5): 523–4. doi:10.1002/humu.9489. PMID 17397051. S2CID 6528744.
• Consugar MB, Kubly VJ, Lager DJ, et al. (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.
• Dawe HR, Smith UM, Cullinane AR, et al. (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.
• Baala L, Romano S, Khaddour R, et al. (2007). "The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome". Am. J. Hum. Genet. 80 (1): 186–94. doi:10.1086/510499. PMC 1785313. PMID 17160906.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.