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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CLPTM1L Gene

protein-coding   GIFtS: 48
GCID: GC05M001317

CLPTM1-like

 Explore 18 diseases affiliated with
CLPTM1L via our new
 Human Malady Compendium 
Biological research products
for CLPTM1L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
CLPTM1-Like1     CLPTM1-Like Protein2 3
CRR91 2 3 5     FLJ144001
Cisplatin Resistance-Related Protein 92 3     Cisplatin Resistance Related Protein CRR9p2
CRR9p2 3     Cleft Lip And Palate Transmembrane Protein 1-Like Protein2

External Ids:    HGNC: 243081   Entrez Gene: 810372   Ensembl: ENSG000000496567   OMIM: 6125855   UniProtKB: Q96KA53   

Export aliases for CLPTM1L gene to outside databases

Previous GC identifer: GC05M001371


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CLP1L_HUMAN, Q96KA5
Function: Enhances cisplatin-mediated apoptosis, when overexpressed

Gene Wiki entry for CLPTM1L


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CLPTM1L gene promoter:
         GCNF   MyoD   CUTL1   E47   GATA-2   CREB   deltaCREB   GCNF-1   TGIF   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCLPTM1L promoter sequence
   Search SABiosciences Chromatin IP Primers for CLPTM1L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLPTM1L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p15.33   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15.33

CLPTM1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CLPTM1L gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M001317:  view genomic region     (about GC identifiers)

Start:
1,317,859 bp from pter      End:
1,345,214 bp from pter
Size:
27,356 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CLP1L_HUMAN, Q96KA5 (See protein sequence)
Recommended Name: Cleft lip and palate transmembrane protein 1-like protein  
Size: 538 amino acids; 62229 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Sequence caution: Sequence=BAB20083.1; Type=Erroneous initiation;
Secondary accessions: D3DTC1 Q658W6 Q7LG29 Q96AZ0 Q9H3N4
Alternative splicing: 2 isoforms:  Q96KA5-1   Q96KA5-2   

Explore the universe of human proteins at neXtProt for CLPTM1L: NX_Q96KA5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96KA5

  • CLPTM1L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_110409.2  
    ENSEMBL proteins: 
     ENSP00000313854   ENSP00000423321   ENSP00000315196  

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    Uscn Proteins for CLPTM1L

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    CLPTM1L for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CLPTM1L for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR008429 CLPTM1

    Graphical View of Domain Structure for InterPro Entry Q96KA5

    ProtoNet protein and cluster: Q96KA5

    UniProtKB/Swiss-Prot: CLP1L_HUMAN, Q96KA5
    Similarity: Belongs to the CLPTM1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CLP1L_HUMAN, Q96KA5
    Function: Enhances cisplatin-mediated apoptosis, when overexpressed
    Induction: Up-regulated by cisplatin

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    SwitchGear 3'UTR luciferase reporter plasmidCLPTM1L 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CLPTM1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/7 Interacting proteins for CLPTM1L (Q96KA53 ENSP000003138544) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3C3Q8NEB93, ENSP000002620394I2D: score=3 STRING: ENSP00000262039
    UNC93B1Q9H1C43, ENSP000002274714I2D: score=1 STRING: ENSP00000227471
    TMEM173Q86WV63, ENSP000003312884I2D: score=1 STRING: ENSP00000331288
    SNRPGP623083I2D: score=4 
    CLN3Q132863I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--


    CLPTM1L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CLPTM1L
    Search CenterWatch for drugs/clinical trials and news about CLPTM1L / CLP1L 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CLPTM1L gene: 
    NM_030782.3  

    Unigene Cluster for CLPTM1L:

    CLPTM1-like
    Hs.444673  [show with all ESTs]
    Unigene Representative Sequence: AK128462
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000320895(uc003jch.3) ENST00000507807 ENST00000503042 ENST00000503534
    ENST00000515719 ENST00000506641 ENST00000511268 ENST00000512451 ENST00000507195
    ENST00000505914 ENST00000505605 ENST00000503151 ENST00000508765 ENST00000513250
    ENST00000511786 ENST00000320927(uc003jcg.3)

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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate CLPTM1L:
    hsa-miR-640 hsa-miR-182 hsa-miR-539 hsa-miR-494 hsa-miR-3121-3p hsa-miR-1271 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidCLPTM1L 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AB045223.1 AK027306.1 AK057095.1 AK126225.1 AK128462.1 AL137440.1 AL832953.1 BC016399.1 
    BC025305.1 BC040705.1 

    22 DOTS entries:

    DT.418580  DT.100700923  DT.97809458  DT.97773724  DT.92065968  DT.100791241  DT.101985140  DT.97862279 
    DT.120823942  DT.97862280  DT.91758381  DT.95362057  DT.120823984  DT.75121977  DT.91834524  DT.95172160 
    DT.97786715  DT.101956405  DT.95362061  DT.97817856  DT.100790899  DT.95221136 

    24/417 AceView cDNA sequences (see all 417):

    CA434736 CR593991 BC025305 BP344491 BU170352 BQ682034 BM476169 AW340229 
    BU931192 BM844611 CD107068 CB215803 AW264702 BM784207 BQ772569 BC016399 
    CA489844 BQ674813 BP429212 BM548701 AI217817 BG829917 CA436067 BU538292 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for CLPTM1L (see all 14)    About this scheme

    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:                                                                                                                                                            

    ExUns: 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c · 21d
    SP1:                                                            
    SP2:                                                            
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for CLPTM1L

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CLPTM1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACTCTGGGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See CLPTM1L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CLPTM1L

    SOURCE GeneReport for Unigene cluster: Hs.444673
        SABiosciences Expression via Pathway-Focused PCR Array including CLPTM1L: 
              Cancer Drug Resistance in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CLPTM1L gene from 7/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Clptm1l1 , 5 CLPTM1-like1, 5 86.99(n)1
    92.94(a)1
      13 (40.12 cM)5
    2183351  NM_146047.21  NP_666159.21 
     736040025 
    chicken
    (Gallus gallus)
    Aves CLPTM1L1 CLPTM1-like 78.86(n)
    91.24(a)
      420973  NM_001012864.1  NP_001012882.1 
    lizard
    (Anolis carolinensis)
    Reptilia CLPTM1L6
    --
    87(a)
    1 ↔ 1
    4(68195935-68231662)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.73442 Transcribed sequence with weak similarity to protein more 78.26(n)    57063849 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG43321 CG4332 54.2(n)
    49.8(a)
      32267  NM_132633.3  NP_572861.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T13H5.81 Protein T13H5.8 50.52(n)
    46.32(a)
      174362  NM_063396.3  NP_495797.1 
    soybean
    (Glycine max)
    eudicotyledons Gma.51352 Transcribed sequence with moderate similarity to protein more 69.89(n)  


    ENSEMBL Gene Tree for CLPTM1L (if available)
    TreeFam Gene Tree for CLPTM1L (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CLPTM1L gene
    CLPTM12  
    1 SIMAP similar gene for CLPTM1L using alignment to 2 protein entries:     CLP1L_HUMAN (see all proteins):
    CLPTM1

    CLPTM1L for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CLPTM1L
    PGOHUM00000244375


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/865 NCBI SNPs in CLPTM1L are shown (see all 865    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1870050821,2
    --1317608(+) GATTGC/TGTGAA 1 -- int10--------
    rs1918331801,2
    --1317686(+) TAAACC/TTCACT 1 -- int10--------
    rs1386606811,2
    --1317695(+) CTACAC/TACCGA 1 -- int10--------
    rs1166120871,2
    --1317699(+) ACACCG/AAGTCC 1 -- int11Minor allele frequency- A:0.01NA 120
    rs1836804091,2
    --1317778(+) GACCTC/GATGGG 1 -- int10--------
    rs38166591,2
    C,F,--1317820(-) CATCTC/TAGTTG 1 -- int113Minor allele frequency- T:0.36MN NA WA CSA EA 768
    rs1879783291,2
    --1317834(+) CGTATC/GTAAGA 1 -- int10--------
    rs18010751,2
    C,F,A,H,--1317949(+) ATATCT/CGAAAT 1 -- int137Minor allele frequency- C:0.13MN EA NA NS WA CSA 3573
    rs1417570191,2
    --1318197(+) CCCGCA/GTGAGG 1 -- ut310--------
    rs360706931,2
    F--1318218(-) GTGTCC/TGGGGT 1 -- ut315Minor allele frequency- T:0.01MN 404

    HapMap Linkage Disequilibrium report for CLPTM1L (1317859 - 1345214 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CLPTM1L
         1 CNV: 68964
         2 Indels: 68965 64082

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CLPTM1L
    DNA2.0 Custom Variant and Variant Library Synthesis for CLPTM1L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CLPTM1L for disorders           About GeneDecksing

    OMIM gene information: 612585    OMIM disorders: --

    18 diseases for CLPTM1L:    About MalaCards
    cleft lip/palate    cleft lip    estrogen-receptor negative breast cancer    testicular germ cell cancer
    squamous cell carcinoma of the head and neck    squamous cell carcinoma    basal cell carcinoma    germ cell cancer
    lung cancer susceptibility    emphysema    lung cancer    breast cancer
    lung adenocarcinoma    ovarian cancer    pancreatic cancer    adenocarcinoma
    carcinoma    pancreatitis

    Human Genome Epidemiology (HuGE) Navigator: CLPTM1L (19 documents)

    Export disorders for CLPTM1L gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CLPTM1L gene, integrated from 9 sources (see all 44):
    (articles sorted by number of sources associating them with CLPTM1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene, CRR9, which was up-regulated in CDDP-resistant ovarian tumor cell line, was associated with apoptosis. (PubMed id 11162647)1, 2, 3 Yamamoto K.... Ohtake Y. (2001)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Functional characterization of CLPTM1L as a lung cance r risk candidate gene in the 5p15.33 locus. (PubMed id 22675468)1 James M.A....You M. (2012)
    5. Fine-mapping of a region of chromosome 5p15.33 (TERT-C LPTM1L) suggests a novel locus in TERT and a CLPTM1L haplotype are associated wi th glioma susceptibility in a Chinese population. (PubMed id 22213090)1 Zhao Y....Lu D. (2012)
    6. Lack of association between common single nucleotide p olymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African anc estry. (PubMed id 22134622)1 Zheng Y....Huo D. (2012)
    7. Meta-analysis combining new and existing data sets con firms that the TERT-CLPTM1L locus influences melanoma risk. (PubMed id 21993562)1 Law M.H....MacGregor S. (2012)
    8. Multiple variants of TERT and CLPTM1L constitute risk factors for lung adenocarcinoma. (PubMed id 22370939)1 Chen X.F....Wang X.B. (2012)
    9. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
    10. The TERT-CLPTM1L locus for lung cancer predisposes to bronchial obstruction and emphysema. (PubMed id 21622582)1 Wauters E....Lambrechts D. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 81037 HGNC: 24308 AceView: CRR9 Ensembl:ENSG00000049656 euGenes: HUgn81037
    ECgene: CLPTM1L H-InvDB: CLPTM1L

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CLPTM1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CLPTM1L gene:
    Search GeneIP for patents involving CLPTM1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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