CLPTM1L (CLPTM1 like)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 81037
Gene name CLPTM1 like
Gene symbol CLPTM1L
Synonyms (NCBI Gene)
CRR9
Chromosome 5
Chromosome location 5p15.33
Summary The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast
miRNA miRNA information provided by mirtarbase database.
56
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (56)
miRTarBase ID miRNA Experiments Reference
MIRT050451 hsa-miR-22-3p CLASH 23622248
MIRT723526 hsa-miR-4694-3p HITS-CLIP 19536157
MIRT723527 hsa-miR-6856-3p HITS-CLIP 19536157
MIRT723525 hsa-miR-3688-3p HITS-CLIP 19536157
MIRT723524 hsa-miR-3622a-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 35344438
GO:0005789 Component Endoplasmic reticulum membrane IEA
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
612585 24308 ENSG00000049656
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.
Q96KA5
Protein name Lipid scramblase CLPTM1L (Cisplatin resistance-related protein 9) (CRR9p) (Cleft lip and palate transmembrane protein 1-like protein) (CLPTM1-like protein)
Protein function Scramblase that mediates the translocation of glucosaminylphosphatidylinositol (alpha-D-GlcN-(1-6)-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol, GlcN-PI) across the endoplasmic reticulum (ER) membrane, from the cytosolic leaflet to the lumi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05602 CLPTM1 9 → 422 Cleft lip and palate transmembrane protein 1 (CLPTM1) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:35344438}.
Sequence
Sequence length 538
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
42
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (42)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL CELL CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (146)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 31474360
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 20700438, 23738012, 24634236
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 19836008, 31009812, 31326317
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASDB_DG 19836008
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22370939, 22675468, 23300716, 23555636, 25233467, 26138067
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 22675468
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 30468251
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal Cell Cancer Basal Cell Neoplasm GWASCAT_DG 19151717, 24403052, 25855136, 27539887, 31174203
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma GWASCAT_DG 19151717, 24403052, 25855136, 27539887, 31174203
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm Basal Cell Neoplasm GWASCAT_DG 19151717, 24403052, 25855136, 27539887, 31174203
★★★★★
★☆☆☆☆
Found in Text Mining only