Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
81037
Gene name Gene Name - the full gene name approved by the HGNC.
CLPTM1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CLPTM1L
Synonyms (NCBI Gene) Gene synonyms aliases
CRR9
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p15.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0006915 Process Apoptotic process IEA
GO:0012505 Component Endomembrane system IBA 21873635
GO:0016020 Component Membrane HDA 19946888
GO:0016020 Component Membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612585 24308 ENSG00000049656
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 25855136, 24403052, 27539887, 31174203, 19151717
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Carcinoma Basal cell carcinoma, Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259 27539887, 25855136, 19151717, 31174203, 24403052
Cervical cancer cervical cancer rs28934571, rs121913482, rs121913483 19151717
Unknown
Disease term Disease name Evidence References Source
Malignant melanoma of skin Malignant melanoma of skin of lower limb, Malignant melanoma of skin of upper limb 30429480 ClinVar
Nasopharyngeal carcinoma Nasopharyngeal carcinoma These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. 20512145 ClinVar, CBGDA
Lymphocytic Leukemia Lymphocytic Leukemia GWAS
Uveal Melanoma Uveal Melanoma Furthermore, knocking-down GPS2 promoted the proliferation and metastatic abilities of UM cells both in vivo and in vitro. GWAS, CBGDA
Associations from Text Mining
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