Cleft lip and palate transmembrane protein 1

Cleft lip and palate associated transmembrane protein 1
Identifiers
Symbol	CLPTM1
External IDs	OMIM: 604783 MGI: 1927155 HomoloGene: 37464 GeneCards: CLPTM1 Gene
Gene ontology Molecular function • protein binding Cellular component • integral component of plasma membrane • external side of plasma membrane • membrane Biological process • multicellular organismal development • cell differentiation • regulation of T cell differentiation in thymus Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1209	56457
Ensembl	ENSG00000104853	ENSMUSG00000002981
UniProt	O96005	Q8VBZ3
RefSeq (mRNA)	NM_001199468	NM_019649
RefSeq (protein)	NP_001269104	NP_062623
Location (UCSC)	Chr 19: 44.95 – 44.99 Mb	Chr 7: 19.63 – 19.67 Mb
PubMed search

Cleft lip and palate transmembrane 1
Identifiers
Symbol	CLPTM1
Pfam	PF05602
InterPro	IPR008429
Available protein structures: Pfam structures PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Cleft lip and palate transmembrane protein 1 is a protein that in humans is encoded by the CLPTM1 gene.^[1][2] It 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 nonsyndromic 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.^[3] This family also contains the Homo sapiens cisplatin resistance related protein CRR9p which is associated with CDDP-induced apoptosis.^[4]

References

1. Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC (Jan 1999). "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): 231–40. doi:10.1006/geno.1998.5577. PMID 9828125.
2. "Entrez Gene: CLPTM1 cleft lip and palate associated transmembrane protein 1".
3. Murray JC, Yoshiura K, Machida J, Daack-hirsch S, Patil SR, Ashworth LK, Hecht JT (1998). "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. doi:10.1006/geno.1998.5577. PMID 9828125.
4. Yamamoto K, Okamoto A, Isonishi S, Ochiai K, Ohtake Y (2001). "A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis". Biochem. Biophys. Res. Commun. 280 (4): 1148–1154. doi:10.1006/bbrc.2001.4250. PMID 11162647.

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Takeuchi T, Kuro-o M, Miyazawa H; et al. (1997). "Transgenic expression of a novel thymic epithelial cell antigen stimulates aberrant development of thymocytes.". J. Immunol. 159 (2): 726–33. PMID 9218588.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• 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.
• 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.
• Rossi MR, Hawthorn L, Platt J; et al. (2005). "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 Genet. Cytogenet. 161 (2): 97–103. doi:10.1016/j.cancergencyto.2005.02.006. PMID 16102578.
• Lewandrowski U, Moebius J, Walter U, Sickmann A (2006). "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.". Mol. Cell Proteomics 5 (2): 226–33. doi:10.1074/mcp.M500324-MCP200. PMID 16263699.
• Otsuki T, Ota T, Nishikawa T; et al. (2007). "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 Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.