Biology:Cleft lip and palate transmembrane protein 1
 Generic protein structure example |
| Cleft lip and palate transmembrane 1 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| Symbol | CLPTM1 | ||||||||
| Pfam | PF05602 | ||||||||
| InterPro | IPR008429 | ||||||||
| |||||||||
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]
References
- ↑ "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. doi:10.1006/geno.1998.5577. PMID 9828125.
- ↑ "Entrez Gene: CLPTM1 cleft lip and palate associated transmembrane protein 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1209.
- ↑ "Transgenic expression of a novel thymic epithelial cell antigen stimulates abberant development of thymocytes". Journal of Immunology 159 (2): 726–733. July 1997. PMID 9218588.
- ↑ "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. doi:10.1093/intimm/7.4.583. PMID 7547685.
- ↑ "Clptm1 Limits Forward Trafficking of GABAA Receptors to Scale Inhibitory Synaptic Strength". Neuron 97 (3): 596–610.e8. February 2018. doi:10.1016/j.neuron.2017.12.038. PMID 29395912.
- ↑ "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. doi:10.1006/geno.1998.5577. PMID 9828125.
- ↑ "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. doi:10.1006/bbrc.2001.4250. PMID 11162647.
Further reading
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–174. January 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Transgenic expression of a novel thymic epithelial cell antigen stimulates abberant development of thymocytes". Journal of Immunology 159 (2): 726–733. July 1997. PMID 9218588.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. October 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "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. doi:10.1016/j.cancergencyto.2005.02.006. PMID 16102578.
- "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach". Molecular & Cellular Proteomics 5 (2): 226–233. February 2006. doi:10.1074/mcp.M500324-MCP200. PMID 16263699.
- "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. doi:10.1093/dnares/12.2.117. PMID 16303743.
 |
