CLPTM1
CLPTM1 (CLPTM1 regulator of GABA type A receptor forward trafficking) is a membrane protein that binds GABAA receptors in the endoplasmic reticulum and shapes inhibitory neurotransmission. It was originally named cleft lip and palate associated transmembrane protein 1 and is annotated as a putative lipid scramblase. Browse Assay Genie's current range of CLPTM1 research reagents below, or read on for the biology behind the target.
CLPTM1 is involved in GABAergic, but not glutamatergic, transmission. It binds and traps GABAA receptors in the endoplasmic reticulum (ER), and in doing so reduces the expression of these receptors at the plasma membrane. This modulates postsynaptic GABAergic transmission and therefore inhibitory neurotransmission. The UniProt entry notes that altered GABAergic signalling is one of many causes of cleft palate.
The protein may also work as a lipid scramblase, translocating lipids between the two leaflets of a membrane, although this activity is described as putative. Separately, CLPTM1 is required for efficient inositol deacylation of glycosylphosphatidylinositol (GPI) in the ER. This is a crucial step that switches GPI-anchored proteins from a protein-folding state to a transport state. UniProt also reports that it may play a role in T-cell development.
The human CLPTM1 gene encodes a membrane protein of the CLPTM1 family, with a mouse ortholog named Clptm1. NCBI Gene lists predicted roles in GABA receptor binding, regulation of postsynaptic membrane neurotransmitter receptor levels, inhibitory chemical synaptic transmission, memory, regulation of synaptic plasticity and regulation of T-cell differentiation in the thymus. The HGNC name reflects its function in GABAA receptor forward trafficking. Earlier names were cleft lip and palate associated transmembrane protein 1 and CLPTM1, transmembrane protein.
CLPTM1 reduces plasma membrane expression of GABAA receptors, making it relevant to studies of postsynaptic GABAergic signalling.
CLPTM1 binds and traps GABAA receptors in the endoplasmic reticulum, offering a route to study receptor forward trafficking.
CLPTM1 is required for efficient GPI inositol deacylation in the ER, a step that moves GPI-anchored proteins towards transport.
Altered GABAergic signalling is among the causes of cleft palate, and CLPTM1 may also play a role in T-cell development.
CLPTM1 binds and traps GABAA receptors in the endoplasmic reticulum, reducing their plasma membrane expression and modulating inhibitory postsynaptic transmission. It is also required for efficient GPI inositol deacylation in the ER and may function as a lipid scramblase.
The earlier name, cleft lip and palate associated transmembrane protein 1, reflects this link. UniProt notes that altered GABAergic signalling is one of many causes of cleft palate, and CLPTM1 modulates GABAergic transmission through GABAA receptor trafficking.
A mouse ortholog, Clptm1, is recorded for the human gene. Check the datasheet of any product for its validated reactivity. UniProt places the protein in the CLPTM1 family, and NCBI Gene lists its predicted functions as membrane-located.
GABAA receptor subunits, GPI-anchor biosynthesis proteins and related membrane proteins with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt O96005; product specifications from Assay Genie datasheets.