NP_808529.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Meckelin
NCBI Official Synonym Full Names
transmembrane protein 67
NCBI Official Synonym Symbols
B230117O07; b2b1163.1Clo; b2b1291.1Clo; 5330408M12Rik; RP23-203A12.5 [Similar Products]
NCBI Protein Information
Meckelin; meckel syndrome type 3 protein homolog
UniProt Protein Name
Meckelin
UniProt Synonym Protein Names
Meckel syndrome type 3 protein homolog; Transmembrane protein 67
UniProt Synonym Gene Names
UniProt Entry Name
MKS3_MOUSE
UniProt Comments for Tmem67
Function: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (sftpc). Ref.2 Ref.4 Ref.5
Subunit structure: Interacts with DNAJB9, DNAJC10 and mutated SFTPC
By similarity. Interacts with SYNE2 during the early establishment of cell polarity
By similarity. Part of the tectonic-like complex (also named B9 complex). Interacts (via C-terminus) with FLNA
By similarity. Ref.5
Subcellular location: Cell membrane; Multi-pass membrane protein
Potential. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm › cytoskeleton › cilium basal body. Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme. Ref.3 Ref.5
Disruption phenotype: Mice survive to birth with no overt morphological abnormalitites. However, these mice died soon after birth. Ref.5
Sequence caution: The sequence BAC31378.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence BAC32362.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
Product References and Citations for anti-Tmem67 antibody
1. 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. 2. Dawe, H. R., Smith, U. M., Cullinane, A. R., Gerrelli, D., Cox, P., Badano, J. L., Blair-Reid, S., Sriram, N., Katsanis, N., Attie-Bitach, T., Afford, S. C., Copp, A. J., Kelly, D. A., Gull, K., Johnson, C. A. The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Molec. Genet. 16: 173-186, 2007. 3. 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 Sharif S, 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 2nd, 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. 4. 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. 5. 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.
Research Articles on Tmem67
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-Tmem67 antibody
Diseases associated with anti-Tmem67 antibody
Organs/Tissues associated with anti-Tmem67 antibody
|