CLPTM1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0033081Biological processregulation of T cell differentiation in thymus
GO_0030154Biological processcell differentiation
GO_0012505Cellular componentendomembrane system
GO_0009897Cellular componentexternal side of plasma membrane
GO_0005886Cellular componentplasma membrane
GO_0016020Cellular componentmembrane
GO_0050811Molecular functionGABA receptor binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameCLPTM1
Protein nameCleft lip and palate associated transmembrane protein 1 isoform 1
Cleft lip and palate associated transmembrane protein 1 isoform 2 (Cleft lip and palate associated transmembrane protein 1, isoform CRA_b)
Putative lipid scramblase CLPTM1 (Cleft lip and palate transmembrane protein 1)
CLPTM1 regulator of GABA type A receptor forward trafficking
SynonymshCG_20220
DescriptionFUNCTION: Involved in GABAergic but not glutamatergic transmission. Binds and traps GABAA receptors in the endoplasmic reticulum (ER). Modulates postsynaptic GABAergic transmission, and therefore inhibitory neurotransmission, by reducing the plasma membrane expression of these receptors. Altered GABAergic signaling is one among many causes of cleft palate (By similarity). Might function as a lipid scramblase, translocating lipids in membranes from one leaflet to the other one (By similarity). Required for efficient glycosylphosphatidylinositol (GPI) inositol deacylation in the ER, which is a crucial step to switch GPI-anchored proteins (GPI-APs) from protein folding to transport states . May play a role in T-cell development (By similarity). .

AccessionsENST00000585961.1
ENST00000541297.6 [O96005-4]
K7EKQ7
A0A0S2Z3H6
K7EQQ1
ENST00000589347.1
K7EJ16
K7ERL5
A0A0S2Z3H2
ENST00000586915.1
ENST00000591304.1
ENST00000337392.10 [O96005-1]
O96005
ENST00000546079.5 [O96005-3]