Cleft lip and palate transmembrane protein 1

CLPTM1
Identifiers
Aliases	CLPTM1 , transmembrane protein, CLPTM1 regulator of GABA type A receptor forward trafficking
External IDs	OMIM: 604783; MGI: 1927155; HomoloGene: 37464; GeneCards: CLPTM1; OMA:CLPTM1 - orthologs
Gene location (Mouse) Chr. Chromosome 7 (mouse) [1] Band 7|7 A3 Start 19,365,496 bp [1] End 19,398,958 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left adrenal gland nucleus accumbens stromal cell of endometrium caudate nucleus putamen cingulate gyrus amygdala prefrontal cortex right lobe of liver body of stomach Top expressed in choroid plexus of fourth ventricle yolk sac entorhinal cortex perirhinal cortex CA3 field right kidney lactiferous gland Ileal epithelium tail of embryo pyloric antrum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component integral component of membrane integral component of plasma membrane membrane external side of plasma membrane Biological process multicellular organism development regulation of T cell differentiation in thymus cell differentiation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1209 56457 Ensembl n/a ENSMUSG00000002981 UniProt O96005 Q8VBZ3 RefSeq (mRNA) NM_001294 NM_001199468 NM_001282175 NM_001282176 NM_019649 RefSeq (protein) NP_001269104 NP_001269105 NP_001285 NP_062623 Location (UCSC) n/a Chr 7: 19.37 – 19.4 Mb PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

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

Cleft lip and palate transmembrane protein 1 (Clptm1) is a multi-transmembrane protein that in humans is encoded by the CLPTM1 gene. ^{[4] [5]} 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. ^{[6] [7]} A more recent study shows a role in GABAA receptor subunit intracellular anchoring and regulation resulting in an influence on synaptic strength ^[8] 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. ^[9] This family also contains the Homo sapiens cisplatin resistance related protein CRR9p which is associated with CDDP-induced apoptosis. ^[10]

References

1. GRCm38: Ensembl release 89: ENSMUSG00000002981 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC (December 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.
5. "Entrez Gene: CLPTM1 cleft lip and palate associated transmembrane protein 1".
6. Takeuchi T, Kuro-o M, Miyazawa H, Ohtsuki Y, Yamamoto H (July 1997). "Transgenic expression of a novel thymic epithelial cell antigen stimulates aberrant development of thymocytes". Journal of Immunology. 159 (2): 726–733. doi:10.4049/jimmunol.159.2.726. PMID   9218588.
7. Takeuchi T, Tamamoto T, Tamura H, Yamamoto H (April 1995). "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. doi:10.1093/intimm/7.4.583. PMID   7547685.
8. Ge Y, Kang Y, Cassidy RM, Moon KM, Lewis R, Wong RO, et al. (February 2018). "Clptm1 Limits Forward Trafficking of GABA_A Receptors to Scale Inhibitory Synaptic Strength". Neuron. 97 (3): 596–610.e8. doi:10.1016/j.neuron.2017.12.038. PMC   5810584 . PMID   29395912.
9. Yoshiura K, Machida J, Daack-Hirsch S, Patil SR, Ashworth LK, Hecht JT, Murray JC (December 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.
10. Yamamoto K, Okamoto A, Isonishi S, Ochiai K, Ohtake Y (February 2001). "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. doi:10.1006/bbrc.2001.4250. PMID   11162647.

Further reading

• Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Takeuchi T, Kuro-o M, Miyazawa H, Ohtsuki Y, Yamamoto H (July 1997). "Transgenic expression of a novel thymic epithelial cell antigen stimulates aberrant development of thymocytes". Journal of Immunology. 159 (2): 726–733. doi:10.4049/jimmunol.159.2.726. PMID   9218588.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Rossi MR, Hawthorn L, Platt J, Burkhardt T, Cowell JK, Ionov Y (September 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 Genetics and Cytogenetics. 161 (2): 97–103. doi:10.1016/j.cancergencyto.2005.02.006. PMID   16102578.
• Lewandrowski U, Moebius J, Walter U, Sickmann A (February 2006). "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach". Molecular & Cellular Proteomics. 5 (2): 226–233. doi: 10.1074/mcp.M500324-MCP200 . PMID   16263699.
• Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, 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 Research. 12 (2): 117–126. doi: 10.1093/dnares/12.2.117 . PMID   16303743.