Cleft lip and palate transmembrane protein 1 explained

Cleft lip and palate transmembrane protein 1 (Clptm1) is a multi-transmembrane protein that in humans is encoded by the CLPTM1 gene.^{[1] [2]} Clptm1 was characterized in 1995 as a surface membrane protein in the thymus during embryonic development in mice and is suggested to have an important role in T-cell development.^{[3] [4]} A more recent study shows a role in GABAA receptor subunit intracellular anchoring and regulation resulting in an influence on synaptic strength^[5] Clptm1 belongs to a family of several eukaryotic cleft lip and palate transmembrane protein 1 sequences.

Cleft lip with or without cleft palate is a common birth defect that is genetically complex. The non-syndromic forms have been studied genetically using linkage and candidate-gene association studies with only partial success in defining the loci responsible for orofacial clefting. CLPTM1 encodes a transmembrane protein and has strong homology to two Caenorhabditis elegans genes, suggesting that CLPTM1 may belong to a new gene family.^[6] This family also contains the Homo sapiens cisplatin resistance related protein CRR9p which is associated with CDDP-induced apoptosis.^[7]

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–174 . January 1994 . 8125298 . 10.1016/0378-1119(94)90802-8.
• Takeuchi T, Kuro-o M, Miyazawa H, Ohtsuki Y, Yamamoto H . Transgenic expression of a novel thymic epithelial cell antigen stimulates aberrant development of thymocytes . Journal of Immunology . 159 . 2 . 726–733 . July 1997 . 10.4049/jimmunol.159.2.726 . 9218588.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–156 . October 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3.
• Rossi MR, Hawthorn L, Platt J, Burkhardt T, Cowell JK, Ionov Y . Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells using inhibition of nonsense-mediated decay and microarray analysis . Cancer Genetics and Cytogenetics . 161 . 2 . 97–103 . September 2005 . 16102578 . 10.1016/j.cancergencyto.2005.02.006.
• Lewandrowski U, Moebius J, Walter U, Sickmann A . Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach . Molecular & Cellular Proteomics . 5 . 2 . 226–233 . February 2006 . 16263699 . 10.1074/mcp.M500324-MCP200 . free.
• Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T . 6 . Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries . DNA Research . 12 . 2 . 117–126 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . free.

Notes and References

1. Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC . Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate . Genomics . 54 . 2 . 231–240 . December 1998 . 9828125 . 10.1006/geno.1998.5577 .
2. Web site: Entrez Gene: CLPTM1 cleft lip and palate associated transmembrane protein 1.
3. Takeuchi T, Kuro-o M, Miyazawa H, Ohtsuki Y, Yamamoto H . Transgenic expression of a novel thymic epithelial cell antigen stimulates aberrant development of thymocytes . Journal of Immunology . 159 . 2 . 726–733 . July 1997 . 10.4049/jimmunol.159.2.726 . 9218588 .
4. Takeuchi T, Tamamoto T, Tamura H, Yamamoto H . Characterization of a 50 kDa surface membrane protein on thymic stromal cells as an important factor for early T cell development . International Immunology . 7 . 4 . 583–590 . April 1995 . 7547685 . 10.1093/intimm/7.4.583 .
5. Ge Y, Kang Y, Cassidy RM, Moon KM, Lewis R, Wong RO, Foster LJ, Craig AM . 6 . Clptm1 Limits Forward Trafficking of GABA_A Receptors to Scale Inhibitory Synaptic Strength . Neuron . 97 . 3 . 596–610.e8 . February 2018 . 29395912 . 10.1016/j.neuron.2017.12.038 . 5810584 .
6. Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC . Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate . Genomics . 54 . 2 . 231–240 . December 1998 . 9828125 . 10.1006/geno.1998.5577 .
7. Yamamoto K, Okamoto A, Isonishi S, Ochiai K, Ohtake Y . A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis . Biochemical and Biophysical Research Communications . 280 . 4 . 1148–1154 . February 2001 . 11162647 . 10.1006/bbrc.2001.4250 .