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 cancers. [provided by RefSeq, Nov 2015] See more...

Aliases for CLPTM1L Gene

Aliases for CLPTM1L Gene

  • CLPTM1 Like 2 3 5
  • CRR9 2 3 4
  • Cleft Lip And Palate Transmembrane Protein 1-Like Protein 3 4
  • Cisplatin Resistance-Related Protein 9 3 4
  • CLPTM1-Like Protein 3 4
  • Cisplatin Resistance Related Protein CRR9p 3
  • Cisplatin Resistance Related Protein 2
  • CLPTM1-Like 2
  • FLJ14400 2
  • CLPTM1L 5
  • CRR9p 4

External Ids for CLPTM1L Gene

Previous GeneCards Identifiers for CLPTM1L Gene

  • GC05M001371

Summaries for CLPTM1L Gene

Entrez Gene Summary for CLPTM1L 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 cancers. [provided by RefSeq, Nov 2015]

GeneCards Summary for CLPTM1L Gene

CLPTM1L (CLPTM1 Like) is a Protein Coding gene. Diseases associated with CLPTM1L include Cleft Lip and Testicular Germ Cell Cancer. An important paralog of this gene is CLPTM1.

UniProtKB/Swiss-Prot Summary for CLPTM1L Gene

Gene Wiki entry for CLPTM1L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLPTM1L Gene

Genomics for CLPTM1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CLPTM1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLPTM1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLPTM1L

Top Transcription factor binding sites by QIAGEN in the CLPTM1L gene promoter:
  • CREB
  • CUTL1
  • deltaCREB
  • E47
  • GATA-2
  • GCNF
  • GCNF-1
  • GCNF-2
  • MyoD
  • TGIF

Genomic Locations for CLPTM1L Gene

Genomic Locations for CLPTM1L Gene
chr5:1,317,752-1,345,099
(GRCh38/hg38)
Size:
27,348 bases
Orientation:
Minus strand
chr5:1,317,859-1,345,214
(GRCh37/hg19)
Size:
27,356 bases
Orientation:
Minus strand

Genomic View for CLPTM1L Gene

Genes around CLPTM1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLPTM1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLPTM1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLPTM1L Gene

Proteins for CLPTM1L Gene

  • Protein details for CLPTM1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KA5-CLP1L_HUMAN
    Recommended name:
    Cleft lip and palate transmembrane protein 1-like protein
    Protein Accession:
    Q96KA5
    Secondary Accessions:
    • D3DTC1
    • Q658W6
    • Q7LG29
    • Q96AZ0
    • Q9H3N4

    Protein attributes for CLPTM1L Gene

    Size:
    538 amino acids
    Molecular mass:
    62229 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB20083.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CLPTM1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLPTM1L Gene

Post-translational modifications for CLPTM1L Gene

  • Glycosylation at Asn91, Asn101, and Asn229
  • Ubiquitination at Lys199, Lys205, Lys243, Lys467, and Lys530
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CLP1L_HUMAN (1117)

Other Protein References for CLPTM1L Gene

No data available for DME Specific Peptides for CLPTM1L Gene

Domains & Families for CLPTM1L Gene

Gene Families for CLPTM1L Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for CLPTM1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CLPTM1L Gene

GenScript: Design optimal peptide antigens:
  • Cisplatin resistance-related protein 9 (CLP1L_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96KA5

UniProtKB/Swiss-Prot:

CLP1L_HUMAN :
  • Belongs to the CLPTM1 family.
Family:
  • Belongs to the CLPTM1 family.
genes like me logo Genes that share domains with CLPTM1L: view

Function for CLPTM1L Gene

Molecular function for CLPTM1L Gene

UniProtKB/Swiss-Prot Function:
Enhances cisplatin-mediated apoptosis, when overexpressed.
UniProtKB/Swiss-Prot Induction:
Up-regulated by cisplatin.

Phenotypes From GWAS Catalog for CLPTM1L Gene

genes like me logo Genes that share phenotypes with CLPTM1L: view

Animal Models for CLPTM1L Gene

MGI Knock Outs for CLPTM1L:
  • Clptm1l Clptm1l<tm1d(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLPTM1L

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLPTM1L Gene

Localization for CLPTM1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLPTM1L Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLPTM1L gene
Compartment Confidence
endoplasmic reticulum 3
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLPTM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CLPTM1L: view

Pathways & Interactions for CLPTM1L Gene

PathCards logo

SuperPathways for CLPTM1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for CLPTM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with CLPTM1L: view

No data available for Pathways by source and SIGNOR curated interactions for CLPTM1L Gene

Drugs & Compounds for CLPTM1L Gene

No Compound Related Data Available

Transcripts for CLPTM1L Gene

mRNA/cDNA for CLPTM1L Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLPTM1L

Alternative Splicing Database (ASD) splice patterns (SP) for CLPTM1L Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^
SP1: - - - - -
SP2: - - - - - -
SP3: -
SP4: - -
SP5:
SP6: - -
SP7: - - -
SP8: - - -
SP9: -
SP10: - - - -
SP11:
SP12: -
SP13: - -
SP14:

ExUns: 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c · 21d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for CLPTM1L Gene

GeneLoc Exon Structure for
CLPTM1L

Expression for CLPTM1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLPTM1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CLPTM1L Gene

This gene is overexpressed in Nasal epithelium (35.0) and Cervix (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CLPTM1L Gene



Protein tissue co-expression partners for CLPTM1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLPTM1L

SOURCE GeneReport for Unigene cluster for CLPTM1L Gene:

Hs.444673

Evidence on tissue expression from TISSUES for CLPTM1L Gene

  • Intestine(4.8)
  • Stomach(4.5)
  • Liver(4.4)
  • Nervous system(3.8)
  • Lung(3.5)
  • Skin(3.2)
  • Pancreas(2.4)
  • Thyroid gland(2.3)
  • Kidney(2.3)
  • Lymph node(2.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with CLPTM1L: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLPTM1L Gene

Orthologs for CLPTM1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CLPTM1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CLPTM1L 30 31
  • 97.41 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CLPTM1L 31
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CLPTM1L 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CLPTM1L 30 31
  • 87.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CLPTM1L 30 31
  • 87.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Clptm1l 30
  • 87.48 (n)
Mouse
(Mus musculus)
Mammalia Clptm1l 30 17 31
  • 86.99 (n)
OneToOne
Chicken
(Gallus gallus)
Aves CLPTM1L 30 31
  • 78.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CLPTM1L 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia clptm1l 30
  • 73.83 (n)
Zebrafish
(Danio rerio)
Actinopterygii clptm1l 30 31
  • 71.68 (n)
OneToOne
Dr.7344 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG4332 30 31
  • 54.36 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001492 30
  • 54.26 (n)
Worm
(Caenorhabditis elegans)
Secernentea T13H5.8 30 31
  • 52.12 (n)
OneToOne
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1984 30
Soybean
(Glycine max)
eudicotyledons Gma.5135 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5840 31
  • 48 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.832 30
Species where no ortholog for CLPTM1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CLPTM1L Gene

ENSEMBL:
Gene Tree for CLPTM1L (if available)
TreeFam:
Gene Tree for CLPTM1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLPTM1L: view image

Paralogs for CLPTM1L Gene

Paralogs for CLPTM1L Gene

(1) SIMAP similar genes for CLPTM1L Gene using alignment to 2 proteins:

  • CLP1L_HUMAN
  • G5E9Z2_HUMAN

Pseudogenes.org Pseudogenes for CLPTM1L Gene

genes like me logo Genes that share paralogs with CLPTM1L: view

Variants for CLPTM1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLPTM1L Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs193920801 Uncertain Significance: Malignant tumor of prostate 1,335,104(-) C/T MISSENSE_VARIANT
rs200467747 Uncertain Significance: not specified 1,341,688(-) C/T MISSENSE_VARIANT
rs200649005 Uncertain Significance: not specified 1,344,394(-) C/G MISSENSE_VARIANT
VAR_042754 A breast cancer sample p.Lys313Asn
rs33955038 - p.Thr537Met

Additional dbSNP identifiers (rs#s) for CLPTM1L Gene

Structural Variations from Database of Genomic Variants (DGV) for CLPTM1L Gene

Variant ID Type Subtype PubMed ID
esv1008075 CNV loss 20482838
esv1013304 CNV insertion 17803354
esv1039127 CNV insertion 17803354
esv1331109 CNV insertion 17803354
esv1673870 CNV insertion 17803354
esv1783268 CNV insertion 17803354
esv23092 CNV loss 19812545
esv24171 CNV loss 19812545
esv2658912 CNV deletion 23128226
esv2671207 CNV deletion 23128226
esv2729477 CNV deletion 23290073
esv2729478 CNV deletion 23290073
esv2729479 CNV deletion 23290073
esv27773 CNV gain 19812545
esv3335162 CNV duplication 20981092
esv3565355 CNV deletion 23714750
esv3603804 CNV gain 21293372
esv3603806 CNV gain 21293372
nsv1073417 CNV deletion 25765185
nsv1077981 CNV duplication 25765185
nsv1117980 CNV deletion 24896259
nsv1119023 CNV deletion 24896259
nsv1130832 CNV deletion 24896259
nsv1133013 OTHER inversion 24896259
nsv1133353 CNV tandem duplication 24896259
nsv1141471 CNV duplication 24896259
nsv1145990 CNV deletion 26484159
nsv1147234 OTHER inversion 26484159
nsv1152415 CNV duplication 26484159
nsv4679 CNV insertion 18451855
nsv474174 CNV novel sequence insertion 20440878
nsv509045 CNV insertion 20534489
nsv510895 OTHER complex 20534489
nsv596629 CNV gain 21841781
nsv596853 CNV gain 21841781
nsv596854 CNV gain 21841781
nsv820391 CNV duplication 20802225
nsv822959 CNV loss 20364138
nsv830187 CNV loss 17160897

Variation tolerance for CLPTM1L Gene

Residual Variation Intolerance Score: 30.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.66; 45.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLPTM1L Gene

Human Gene Mutation Database (HGMD)
CLPTM1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLPTM1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLPTM1L Gene

Disorders for CLPTM1L Gene

MalaCards: The human disease database

(11) MalaCards diseases for CLPTM1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cleft lip
  • cheiloschisis
testicular germ cell cancer
  • testicular germ cell tumor
estrogen-receptor negative breast cancer
testicular cancer
  • childhood neoplasm of the testis
germ cell cancer
  • germ cell neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CLPTM1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CLPTM1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLPTM1L Gene

Publications for CLPTM1L Gene

  1. A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis. (PMID: 11162647) Yamamoto K … Ohtake Y (Biochemical and biophysical research communications 2001) 2 3 4
  2. Genome-wide association study identifies three new melanoma susceptibility loci. (PMID: 21983787) Barrett JH … GenoMEL Consortium (Nature genetics 2011) 3 41
  3. Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study. (PMID: 21081471) Gago-Dominguez M … Van Den Berg DJ (Carcinogenesis 2011) 3 41
  4. Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. (PMID: 20543847) Turnbull C … UK Testicular Cancer Collaboration (Nature genetics 2010) 3 41
  5. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. (PMID: 20972438) Rothman N … Chanock SJ (Nature genetics 2010) 3 41

Products for CLPTM1L Gene

Sources for CLPTM1L Gene