Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1209
Gene name Gene Name - the full gene name approved by the HGNC.	CLPTM1 regulator of GABA type A receptor forward trafficking
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CLPTM1
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.32

Show/Hide all(15)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050963	hsa-miR-17-5p	CLASH	23622248
MIRT047428	hsa-miR-10b-5p	CLASH	23622248
MIRT044966	hsa-miR-186-5p	CLASH	23622248
MIRT897726	hsa-miR-1224-3p	CLIP-seq
MIRT897727	hsa-miR-1260	CLIP-seq
MIRT897728	hsa-miR-1260b	CLIP-seq
MIRT897729	hsa-miR-1280	CLIP-seq
MIRT897730	hsa-miR-4707-5p	CLIP-seq
MIRT897731	hsa-miR-532-3p	CLIP-seq
MIRT2202004	hsa-miR-3126-5p	CLIP-seq
MIRT2202005	hsa-miR-3191	CLIP-seq
MIRT2202006	hsa-miR-4278	CLIP-seq
MIRT2202007	hsa-miR-4485	CLIP-seq
MIRT2202008	hsa-miR-4716-3p	CLIP-seq
MIRT2202009	hsa-miR-887	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21903422, 33961781
GO:0005886	Component	Plasma membrane	TAS	9828125
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	ISS
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0033081	Process	Regulation of T cell differentiation in thymus	IEA
GO:0033081	Process	Regulation of T cell differentiation in thymus	ISS
GO:0050811	Function	GABA receptor binding	IEA

MIM	HGNC	e!Ensembl
604783	2087	ENSG00000104853

Protein

UniProt ID

O96005

Protein name

Putative lipid scramblase CLPTM1 (Cleft lip and palate transmembrane protein 1)

Protein function

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 membra

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05602	CLPTM1	57 → 497	Cleft lip and palate transmembrane protein 1 (CLPTM1)	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9828125}.

Sequence

MAAAQEADGARSAVVAAGGGSSGQVTSNGSIGRDPPAETQPQNPPAQPAPNAWQVIKGVL
FRIFIIWAISSWFRRGPAPQDQAGPGGAPRVASRNLFPKDTLMNLHVYISEHEHFTDFNA
TSALFWEQHDLVYGDWTSGENSDGCYEHFAELDIPQSVQQNGSIYIHVYFTKSGFHPDPR
QKALYRRLATVHMSRMINKYKRRRFQKTKNLLTGETEADPEMIKRAEDYGPVEVISHWHP
NITINIVDDHTPWVKGSVPPPLDQYVKFDAVSGDYYPIIYFNDYWNLQKDYYPINESLAS
LPLRVSFCPLSLWRWQLYAAQSTKSPWNFLGDELYEQSDEEQDSVKVALLETNPYLLALT
IIVSIVHSVFEFLAFKNDIQFWNSRQSLEGLSVRSVFFGVFQSFVVLLYILDNETNFVVQ
VSVFIGVLIDLWKITKVMDVRLDREHRVAGIFPRLSFKDKSTYIESSTKVYDDMAFRYLS
WILFPLLGCYAVYSLLYLEHKGWYSWVLSMLYGFLLTFGFITMTPQLFINYKLKSVAHLP
WRMLTYKALNTFIDDLFAFVIKMPVMYRIGCLRDDVVFFIYLYQRWIYRVDPTRVNEFGM
SGEDPTAAAPVAEVPTAAGALTPTPAPTTTTATREEASTSLPTKPTQGASSASEPQEAPP
KPAEDKKKD

Sequence length

669

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	33947463, 40631452
Epilepsy	Associate	37577761
Neoplasms	Associate	20597107
Squamous Cell Carcinoma of Head and Neck	Associate	30635792

CLPTM1 (CLPTM1 regulator of GABA type A receptor forward trafficking)