CLPTM1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | CLPTM1 , transmembrane protein, CLPTM1 regulator of GABA type A receptor forward trafficking | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 604783 MGI: 1927155 HomoloGene: 37464 GeneCards: CLPTM1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Cleft lip and palate transmembrane 1 | |||||||||
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Identifiers | |||||||||
Symbol | CLPTM1 | ||||||||
Pfam | PF05602 | ||||||||
InterPro | IPR008429 | ||||||||
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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]
INT-2 proto-oncogene protein also known as FGF-3 is a protein that in humans is encoded by the FGF3 gene.
Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.
The related to receptor tyrosine kinase (RYK) gene encodes the protein Ryk.
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CD99 antigen, also known as MIC2 or single-chain type-1 glycoprotein, is a heavily O-glycosylated transmembrane protein that is encoded by the CD99 gene in humans. The protein has a mass of 32 kD. Unusually for a gene present on the X chromosome, the CD99 gene does not undergo X inactivation, and it was the first such pseudoautosomal gene to be discovered in humans.
Frizzled-8(Fz-8) is a protein that in humans is encoded by the FZD8 gene.
Protein patched homolog 1 is a protein that is the member of the patched family and in humans is encoded by the PTCH1 gene.
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Translin is a DNA-binding protein that in humans is encoded by the TSN gene. Together with translin-associated factor X, translin forms the component 3 of promoter of RISC (C3PO) complex which facilitates endonucleolytic cleavage of the passenger strand during microRNA loading into the RNA-induced silencing complex (RISC).
CD7 is a protein that in humans is encoded by the CD7 gene.
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T-box transcription factor TBX22 is a protein that in humans is encoded by the TBX22 gene.
Ventral anterior homeobox 1 is a protein that in humans is encoded by the VAX1 gene.
Cleft lip and palate transmembrane protein 1-like protein, also known as cisplatin resistance-related protein 9 (CRR9p), is a protein that in humans is encoded by the CLPTM1L gene. CRR9p is associated with cisplatin-induced apoptosis. CLPTM1L, which lies within a cancer susceptibility locus on chromosome 5 (5p15.33), has been found to be commonly over-expressed in lung tumors and to confer resistance to apoptosis caused by genotoxic agents in association with up-regulation of the anti-apoptotic protein, Bcl-xL. Inhibition of CLPTM1L has been shown to inhibit oncogenic transformation and tumorigenesis caused by the KRas oncogene partially through the PI3K/Akt survival signaling axis.
Special AT-rich sequence-binding protein 2 (SATB2) also known as DNA-binding protein SATB2 is a protein that in humans is encoded by the SATB2 gene. SATB2 is a DNA-binding protein that specifically binds nuclear matrix attachment regions and is involved in transcriptional regulation and chromatin remodeling. SATB2 shows a restricted mode of expression and is expressed in certain cell nuclei. The SATB2 protein is mainly expressed in the epithelial cells of the colon and rectum, followed by the nuclei of neurons in the brain.
Decaprenyl-diphosphate synthase subunit 2 (PDSS2) is a protein that in humans is encoded by the PDSS2 gene.
Mitochondrial translational release factor 1-like is a protein that in humans is encoded by the MTRF1L gene.