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

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
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21903422
GO:0005887 Component Integral component of plasma membrane TAS 9828125
GO:0007275 Process Multicellular organism development IEA
GO:0009897 Component External side of plasma membrane ISS
GO:0012505 Component Endomembrane system IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604783 2087 ENSG00000104853
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Sequence length 669
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)		 29777097, 21460841, 30617256
Pancreatic cancer Malignant neoplasm of pancreas rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431 26098869
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Metabolic Syndrome Metabolic Syndrome GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining
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