Gene Gene information from NCBI Gene database.
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
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
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.
MIM HGNC e!Ensembl
612585 24308 ENSG00000049656
Protein Protein information from UniProt database.
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
24
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs142887696 RCV005933244
CLPTM1L-related disorder Benign; Likely benign rs150993328, rs781774544, rs115028409, rs199834712, rs751677876, rs762040634, rs1452932685, rs5865369, rs1429340504, rs144759255, rs367942927, rs142887696, rs142160762, rs372391081, rs34536907
View all (4 more)
RCV003909253
RCV003921481
RCV003929683
RCV003981542
RCV003983452
RCV003902233
RCV003899427
RCV003909578
RCV003911889
RCV003952169
RCV003927287
RCV003951465
RCV003934418
RCV003947170
RCV003944415
RCV003954741
RCV003971403
RCV003936793
RCV003944328
Familial cancer of breast Likely benign rs142887696 RCV005933243
Malignant tumor of esophagus Benign rs76174234 RCV005933415
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 20700438, 23738012, 24386361, 27246533, 33393640
Adenocarcinoma of Lung Associate 22370939, 23555636, 25233467, 28181565
Adenocarcinoma of Lung Stimulate 22675468, 23300716
Basal Cell Nevus Syndrome Associate 25159867
Breast Neoplasms Associate 20056641, 22037553
Carcinogenesis Associate 22412903, 22675468, 24386361, 25155038, 33213418, 38254939
Carcinoma Basal Cell Associate 19578363, 25159867
Carcinoma Bronchogenic Associate 21622582
Carcinoma Hepatocellular Associate 25122662, 25339005
Carcinoma Non Small Cell Lung Associate 22675468, 24039754, 24175795, 32943060, 33393640