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    CLPTM1L CLPTM1 like [ Homo sapiens (human) ]

    Gene ID: 81037, updated on 7-May-2017
    Official Symbol
    CLPTM1Lprovided by HGNC
    Official Full Name
    CLPTM1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:24308
    See related
    Ensembl:ENSG00000049656 MIM:612585; Vega:OTTHUMG00000131015
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRR9
    Summary
    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]
    Orthologs
    Location:
    5p15.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (1317744..1345070, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1317869..1345180, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene telomerase reverse transcriptase Neighboring gene microRNA 4457 Neighboring gene long intergenic non-protein coding RNA 1511 Neighboring gene solute carrier family 6 member 3

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    NHGRI GWA Catalog
    A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
    NHGRI GWA Catalog
    A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
    NHGRI GWA Catalog
    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
    NHGRI GWA Catalog
    Common 5p15.33 and 6p21.33 variants influence lung cancer risk.
    NHGRI GWA Catalog
    Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
    NHGRI GWA Catalog
    Genetic correction of PSA values using sequence variants associated with PSA levels.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    NHGRI GWA Catalog
    Genome-wide association study identifies three new melanoma susceptibility loci.
    NHGRI GWA Catalog
    Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
    NHGRI GWA Catalog
    Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
    NHGRI GWA Catalog
    Lung cancer susceptibility locus at 5p15.33.
    NHGRI GWA Catalog
    Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
    NHGRI GWA Catalog
    The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia.
    NHGRI GWA Catalog
    Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ14400, FLJ32533, DKFZp666M1010, DKFZp761M2324

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    cleft lip and palate transmembrane protein 1-like protein
    Names
    CLPTM1-like protein
    cisplatin resistance related protein CRR9p
    cisplatin resistance-related protein 9

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046903.1 RefSeqGene

      Range
      4996..32322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_030782.4NP_110409.2  cleft lip and palate transmembrane protein 1-like protein

      See identical proteins and their annotated locations for NP_110409.2

      Status: REVIEWED

      Source sequence(s)
      AC114291, BC025305, BQ019182, CD109529
      Consensus CDS
      CCDS3862.1
      UniProtKB/Swiss-Prot
      Q96KA5
      Related
      ENSP00000313854.5, OTTHUMP00000161634, ENST00000320895.9, OTTHUMT00000253649
      Conserved Domains (1) summary
      pfam05602
      Location:22421
      CLPTM1; Cleft lip and palate transmembrane protein 1 (CLPTM1)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      1317744..1345070 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514144.2XP_011512446.1  cleft lip and palate transmembrane protein 1-like protein isoform X1

      Conserved Domains (1) summary
      pfam05602
      Location:22420
      CLPTM1; Cleft lip and palate transmembrane protein 1 (CLPTM1)

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187547.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      168939..195710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      1316896..1344222 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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