Cleft lip and palate transmembrane protein 1

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.

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
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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 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]