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CLPTM1L CLPTM1 like [ Homo sapiens (human) ]

Gene ID: 81037, updated on 12-Sep-2021

Summary

Official Symbol
CLPTM1Lprovided by HGNC
Official Full Name
CLPTM1 likeprovided by HGNC
Primary source
HGNC:HGNC:24308
See related
Ensembl:ENSG00000049656 MIM:612585
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]
Expression
Ubiquitous expression in testis (RPKM 35.1), thyroid (RPKM 34.7) and 25 other tissues See more
Orthologs
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Genomic context

See CLPTM1L in Genome Data Viewer
Location:
5p15.33
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (1317752..1345099, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1317867..1345214, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene telomerase reverse transcriptase Neighboring gene TERT 5' regulatory region Neighboring gene microRNA 4457 Neighboring gene long intergenic non-protein coding RNA 1511 Neighboring gene MT-CO2 pseudogene 32 Neighboring gene Sharpr-MPRA regulatory region 8068

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
GeneReviews: Not available
A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
GeneReviews: Not available
A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
GeneReviews: Not available
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
GeneReviews: Not available
Common 5p15.33 and 6p21.33 variants influence lung cancer risk.
GeneReviews: Not available
Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
GeneReviews: Not available
Genetic correction of PSA values using sequence variants associated with PSA levels.
GeneReviews: Not available
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
GeneReviews: Not available
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
GeneReviews: Not available
Genome-wide association study identifies three new melanoma susceptibility loci.
GeneReviews: Not available
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
GeneReviews: Not available
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
GeneReviews: Not available
Lung cancer susceptibility locus at 5p15.33.
GeneReviews: Not available
Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.
GeneReviews: Not available
The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia.
GeneReviews: Not available
Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14400, FLJ32533, DKFZp666M1010, DKFZp761M2324

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in endomembrane system IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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
    4967..32314
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_030782.5NP_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)
    AC026748, AC114291, BC025305, BQ019182, CD109529
    Consensus CDS
    CCDS3862.1
    UniProtKB/Swiss-Prot
    Q96KA5
    Related
    ENSP00000313854.5, ENST00000320895.10
    Conserved Domains (1) summary
    pfam05602
    Location:22421
    CLPTM1; Cleft lip and palate transmembrane protein 1 (CLPTM1)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    1317752..1345099 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 X2

    Conserved Domains (1) summary
    pfam05602
    Location:22420
    CLPTM1; Cleft lip and palate transmembrane protein 1 (CLPTM1)
  2. XM_024446221.1XP_024301989.1  cleft lip and palate transmembrane protein 1-like protein isoform X1

    Conserved Domains (1) summary
    pfam05602
    Location:22421
    CLPTM1; Cleft lip and palate transmembrane protein 1 (CLPTM1)
  3. XM_024446222.1XP_024301990.1  cleft lip and palate transmembrane protein 1-like protein isoform X3

    Related
    ENSP00000423321.1, ENST00000507807.3
    Conserved Domains (1) summary
    pfam05602
    Location:1243
    CLPTM1; Cleft lip and palate transmembrane protein 1 (CLPTM1)

RNA

  1. XR_002956183.1 RNA Sequence

  2. XR_002956182.1 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187547.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    168910..195710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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