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

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 1209
Gene name CLPTM1 regulator of GABA type A receptor forward trafficking
Gene symbol CLPTM1
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.32
miRNA miRNA information provided by mirtarbase database.
15
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604783 2087 ENSG00000104853
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 669
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
37
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CLPTM1-related disorder Uncertain significance; Benign; Likely benign rs1167320603, rs150943861, rs766350533, rs2513600911, rs36101520, rs1318176090, rs150484293, rs2513598212, rs753515972, rs202029911, rs377613090, rs576754517, rs1018549786, rs140564801, rs143527825
View all (17 more)		 RCV003918946
RCV003410161
RCV004750887
RCV003404276
RCV003894724
RCV003923843
RCV003929722
RCV003893669
RCV003912070
RCV003897390
RCV003909732
RCV003909791
RCV003937360
RCV003959686
RCV003964034
RCV003914672
RCV003929485
RCV003949618
RCV003936944
RCV003947066
RCV003949488
RCV003961913
RCV003921974
RCV003917327
RCV003944260
RCV003979191
RCV003969447
RCV003978404
RCV003975519
RCV003983238
RCV003948382
RCV003957932
Gastric cancer Benign rs77883165 RCV005938825
Malignant lymphoma, large B-cell, diffuse Benign rs77883165 RCV005938823
Malignant tumor of esophagus Benign rs77883165 RCV005938822
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33947463, 40631452
Epilepsy Associate 37577761
Neoplasms Associate 20597107
Squamous Cell Carcinoma of Head and Neck Associate 30635792