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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
  • Cisplatin Resistance Related Protein CRR9p 3
  • Cisplatin Resistance Related Protein 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

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

Genomics for CLPTM1L Gene

Regulatory Elements for CLPTM1L Gene

Promoters for CLPTM1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CLPTM1L on UCSC Golden Path with GeneCards custom track

Genomic Location for CLPTM1L Gene

Chromosome:
5
Start:
1,317,744 bp from pter
End:
1,345,099 bp from pter
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

Proteomics data for CLPTM1L Gene at MOPED

Post-translational modifications for CLPTM1L Gene

  • Ubiquitination at Lys 199, Lys 205, Lys 243, Lys 467, and Lys 530
  • Glycosylation at Asn 91, Asn 101, and Asn 229
  • Modification sites at PhosphoSitePlus

Other Protein References for CLPTM1L Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CLPTM1L Gene

Domains & Families for CLPTM1L Gene

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

No data available for Gene Families for CLPTM1L Gene

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

Animal Model Products

CRISPR 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
Jensen Localization Image for CLPTM1L Gene COMPARTMENTS Subcellular localization image for CLPTM1L gene
Compartment Confidence
endoplasmic reticulum 3
plasma membrane 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CLPTM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane 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

None

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

Unigene Clusters for CLPTM1L Gene

CLPTM1-like:
Representative Sequences:

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 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, MOPED, and MaxQB for CLPTM1L Gene



SOURCE GeneReport for Unigene cluster for CLPTM1L Gene Hs.444673

genes like me logo Genes that share expression patterns with CLPTM1L: view

Protein tissue co-expression partners for CLPTM1L Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia CLPTM1L 35
  • 87.61 (n)
  • 92.01 (a)
CLPTM1L 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLPTM1L 35
  • 87.98 (n)
  • 95.17 (a)
CLPTM1L 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clptm1l 35
  • 86.99 (n)
  • 92.94 (a)
Clptm1l 16
Clptm1l 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLPTM1L 35
  • 97.41 (n)
  • 97.21 (a)
CLPTM1L 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Clptm1l 35
  • 87.48 (n)
  • 94.61 (a)
oppossum
(Monodelphis domestica)
Mammalia CLPTM1L 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLPTM1L 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLPTM1L 35
  • 78.51 (n)
  • 90.55 (a)
CLPTM1L 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLPTM1L 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clptm1l 35
  • 73.83 (n)
  • 86.92 (a)
zebrafish
(Danio rerio)
Actinopterygii clptm1l 35
  • 71.68 (n)
  • 74.44 (a)
Dr.7344 35
clptm1l 36
  • 74 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001492 35
  • 54.26 (n)
  • 47.28 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4332 35
  • 54.36 (n)
  • 50.51 (a)
CG4332 36
  • 43 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T13H5.8 35
  • 52.12 (n)
  • 49.36 (a)
T13H5.8 36
  • 41 (a)
OneToOne
soybean
(Glycine max)
eudicotyledons Gma.5135 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1984 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.832 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5840 36
  • 48 (a)
OneToOne
Species with no ortholog for CLPTM1L:
  • 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)

Paralogs for CLPTM1L Gene

Paralogs for CLPTM1L Gene

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

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 Sequence Context AA Info Type
VAR_042754 A breast cancer sample
rs33955038 - 1,318,376(-) CCACA(C/T)GGACT reference, missense
rs27996 -- 1,345,359(-) GCTCC(C/T)CACAC upstream-variant-2KB
rs31484 -- 1,337,791(+) AAAGC(A/T)CCGTG intron-variant
rs31485 -- 1,339,490(+) ACAGA(C/T)GGGCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv881117 CNV Loss 21882294
nsv510895 CNV Complex 20534489
nsv880847 CNV Loss 21882294
nsv822959 CNV Loss 20364138
nsv509045 CNV Insertion 20534489
nsv880418 CNV Loss 21882294
nsv881444 CNV Loss 21882294
nsv830187 CNV Loss 17160897
esv2729477 CNV Deletion 23290073
esv2658912 CNV Deletion 23128226
esv23092 CNV Loss 19812545
esv2729478 CNV Deletion 23290073
esv27773 CNV Gain 19812545
nsv4679 CNV Insertion 18451855
esv1008075 CNV Loss 20482838
esv24171 CNV Loss 19812545
nsv820391 CNV Duplication 20802225
esv2671207 CNV Deletion 23128226
esv2729479 CNV Deletion 23290073
esv1013304 CNV Insertion 17803354
esv1673870 CNV Insertion 17803354
esv1331109 CNV Insertion 17803354
esv1039127 CNV Insertion 17803354
esv1783268 CNV Insertion 17803354

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)

Relevant External Links for CLPTM1L Gene

HapMap Linkage Disequilibrium report
CLPTM1L
Human Gene Mutation Database (HGMD)
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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cleft lip
  • cheiloschisis
estrogen-receptor negative breast cancer
hepatocellular fibrolamellar carcinoma
  • fibrolamellar hepatocellular carcinoma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CLPTM1L

Genetic Association Database (GAD)
CLPTM1L
Human Genome Epidemiology (HuGE) Navigator
CLPTM1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLPTM1L
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. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 67
  2. Genomic analysis of fibrolamellar hepatocellular carcinoma. (PMID: 25122662) Xu L. … Sage J. (Hum. Mol. Genet. 2015) 3
  3. Upregulation of miR-494 Inhibits Cell Growth and Invasion and Induces Cell Apoptosis by Targeting Cleft Lip and Palate Transmembrane 1-Like in Esophageal Squamous Cell Carcinoma. (PMID: 25480402) Zhang R. … Zhao G. (Dig. Dis. Sci. 2015) 3
  4. Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. (PMID: 25487306) Carvajal-Carmona L.G. … Thompson D.J. (Hum. Genet. 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for CLPTM1L Gene

Sources for CLPTM1L Gene

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