Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CLPTM1L Gene

Aliases for CLPTM1L Gene

  • CLPTM1 Like 2 3 5
  • Cisplatin Resistance-Related Protein 9 3 4
  • CLPTM1-Like Protein 3 4
  • CRR9 3 4
  • Cleft Lip And Palate Transmembrane Protein 1-Like Protein 3
  • Cisplatin Resistance Related Protein CRR9p 3
  • Cisplatin Resistance Related Protein 2
  • CLPTM1-Like 2
  • 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 Estrogen-Receptor Negative Breast Cancer. An important paralog of this gene is CLPTM1.

UniProtKB/Swiss-Prot for CLPTM1L Gene

  • Enhances cisplatin-mediated apoptosis, when overexpressed.

Gene Wiki entry for CLPTM1L Gene

Additional gene information for CLPTM1L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLPTM1L Gene

Genomics for CLPTM1L Gene

GeneHancer (GH) Regulatory Elements for CLPTM1L Gene

Promoters and enhancers for CLPTM1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J001343 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.0 43 3.1 PKNOX1 ATF1 ZFP64 ARID4B SIN3A BRCA1 ETS1 GLIS2 E2F8 ELK1 PIR49751 PIR52829 GC05P001367 GC05P001361 GC05P001359 GC05P001358 CLPTM1L TERT GC05P001335
GH05J001325 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.4 +17.4 17399 3.7 HDGF PKNOX1 SREBF2 NEUROD1 KLF17 SIN3A YBX1 TCF12 GLIS2 E2F8 ENSG00000271119 LOC100132773 TERT GC05P001335 GC05M001307 CLPTM1L
GH05J001329 Enhancer 0.9 ENCODE dbSUPER 0.4 +13.8 13798 2.9 KLF1 FEZF1 ZBTB40 ZNF121 ZNF600 RXRA NCOA1 REST ATF2 GABPA TERT GC05P001335 CLPTM1L GC05M001307
GH05J001335 Enhancer 0.8 ENCODE dbSUPER 0.4 +8.1 8082 2.9 KLF1 FOXA2 RXRA MAX REST RAD21 FOXA1 YY1 SP1 JUND GC05P001335 TERT CLPTM1L
GH05J001326 Enhancer 0.4 ENCODE dbSUPER 0.4 +19.7 19663 0.1 GC05P001335 GC05M001307 CLPTM1L
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for CLPTM1L Gene

Genomic Locations for CLPTM1L Gene
chr5:1,317,744-1,345,099
(GRCh38/hg38)
Size:
27,356 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 Asn229, Asn101, and Asn91
  • Ubiquitination at posLast=530530, Lys467, Lys243, posLast=205205, and posLast=199199
  • Modification sites at PhosphoSitePlus

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:

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 Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , 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 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 IBA,IEA --
genes like me logo Genes that share ontologies with CLPTM1L: view

Pathways & Interactions for CLPTM1L Gene

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

Unigene Clusters for CLPTM1L Gene

CLPTM1-like:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
CLPTM1L

Expression for CLPTM1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of CLPTM1L Gene:

CLPTM1L

SOURCE GeneReport for Unigene cluster for CLPTM1L Gene:

Hs.444673

Evidence on tissue expression from TISSUES for CLPTM1L Gene

  • Intestine(4.7)
  • Stomach(4.4)
  • Liver(4.3)
  • Lung(3.6)
  • Nervous system(3.5)
  • Skin(2.4)
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 34 33
  • 97.41 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLPTM1L 34
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLPTM1L 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLPTM1L 34 33
  • 87.98 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CLPTM1L 34 33
  • 87.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clptm1l 33
  • 87.48 (n)
mouse
(Mus musculus)
Mammalia Clptm1l 16 34 33
  • 86.99 (n)
chicken
(Gallus gallus)
Aves CLPTM1L 34 33
  • 78.51 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLPTM1L 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clptm1l 33
  • 73.83 (n)
zebrafish
(Danio rerio)
Actinopterygii clptm1l 34 33
  • 71.68 (n)
OneToOne
Dr.7344 33
fruit fly
(Drosophila melanogaster)
Insecta CG4332 34 33
  • 54.36 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001492 33
  • 54.26 (n)
worm
(Caenorhabditis elegans)
Secernentea T13H5.8 34 33
  • 52.12 (n)
OneToOne
soybean
(Glycine max)
eudicotyledons Gma.5135 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1984 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5840 34
  • 48 (a)
OneToOne
Cin.832 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.832 33
Species where no ortholog for CLPTM1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 from dbSNP and Humsavar for CLPTM1L Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs193920801 uncertain-significance, Malignant tumor of prostate 1,335,104(-) C/T coding_sequence_variant, missense_variant
VAR_042754 A breast cancer sample p.Lys313Asn
rs200467747 uncertain-significance, not specified 1,341,688(-) C/T coding_sequence_variant, missense_variant
rs200649005 uncertain-significance, not specified 1,344,394(-) C/G coding_sequence_variant, missense_variant
rs1000029949 -- 1,342,452(-) G/A intron_variant

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

(3) MalaCards diseases for CLPTM1L Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cleft lip
  • cheiloschisis
estrogen-receptor negative breast cancer
orofacial cleft
- 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
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 58
  2. 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 44 58
  3. Genome-wide association study identifies three new melanoma susceptibility loci. (PMID: 21983787) Barrett JH … GenoMEL Consortium (Nature genetics 2011) 3 44 58
  4. Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. (PMID: 19955392) Wang Y … Houlston RS (Carcinogenesis 2010) 3 44 58
  5. A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33. (PMID: 20101243) Petersen GM … Chanock SJ (Nature genetics 2010) 3 44 58

Products for CLPTM1L Gene

Sources for CLPTM1L Gene

Content
Loading form....