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    CLSPN claspin [ Homo sapiens (human) ]

    Gene ID: 63967, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CLSPNprovided by HGNC
    Official Full Name
    claspinprovided by HGNC
    Primary source
    HGNC:HGNC:19715
    See related
    Ensembl:ENSG00000092853 MIM:605434; AllianceGenome:HGNC:19715
    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
    Summary
    The product of this gene is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle in response to replicative stress or DNA damage. The protein is also required for efficient DNA replication during a normal S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
    Expression
    Broad expression in bone marrow (RPKM 2.6), testis (RPKM 2.4) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CLSPN in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (35720213..35769978, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (35583157..35632902, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36185814..36235579, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36156281-36156798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36156799-36157314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 644 Neighboring gene Sharpr-MPRA regulatory region 7840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 645 Neighboring gene Sharpr-MPRA regulatory region 10959 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:36191359-36191542 Neighboring gene chromosome 1 open reading frame 216 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:36204140-36205339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 737 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36272791-36273290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 738 Neighboring gene argonaute RISC component 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:36315018-36315170 Neighboring gene CFAP97 pseudogene 1 Neighboring gene argonaute RISC component 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. CLSPN is a potential biomarker associated with poor prognosis in low-grade gliomas based on a multi-database analysis. Jia Y, et al. Curr Res Transl Med, 2022 Sep. PMID 35487167
    2. Claspin promotes normal replication fork rates in human cells. Petermann E, et al. Mol Biol Cell, 2008 Jun. PMID 18353973, Free PMC Article
    3. Claspin Overexpression Promotes Tumor Progression and Predicts Poor Clinical Outcome in Prostate Cancer. Cai C, et al. Genet Test Mol Biomarkers, 2021 Feb. PMID 33596143
    4. Germline alterations in the CLSPN gene in breast cancer families. Erkko H, et al. Cancer Lett, 2008 Mar 8. PMID 18077083
    5. Overexpression of claspin promotes docetaxel resistance and is associated with prostate-specific antigen recurrence in prostate cancer. Babasaki T, et al. Cancer Med, 2021 Aug. PMID 34240817, Free PMC Article

    See all (128) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Interaction between CLSPN Gene Polymorphisms and Alcohol Consumption Contributes to Oral Cancer Progression.
      Title: The Interaction between CLSPN Gene Polymorphisms and Alcohol Consumption Contributes to Oral Cancer Progression.
    2. CLSPN is a potential biomarker associated with poor prognosis in low-grade gliomas based on a multi-database analysis.
      Title: CLSPN is a potential biomarker associated with poor prognosis in low-grade gliomas based on a multi-database analysis.
    3. Overexpression of claspin promotes docetaxel resistance and is associated with prostate-specific antigen recurrence in prostate cancer.
      Title: Overexpression of claspin promotes docetaxel resistance and is associated with prostate-specific antigen recurrence in prostate cancer.
    4. Structural basis for recruitment of the CHK1 DNA damage kinase by the CLASPIN scaffold protein.
      Title: Structural basis for recruitment of the CHK1 DNA damage kinase by the CLASPIN scaffold protein.
    5. circRNA derived from CLSPN (circCLSPN) is an oncogene in human glioblastoma multiforme by regulating cell growth, migration and invasion via ceRNA pathway.
      Title: circRNA derived from CLSPN (circCLSPN) is an oncogene in human glioblastoma multiforme by regulating cell growth, migration and invasion via ceRNA pathway.
    6. Histones on fire: the effect of Dun1 and Mrc1 on origin firing and replication of hyper-acetylated genomes.
      Title: Histones on fire: the effect of Dun1 and Mrc1 on origin firing and replication of hyper-acetylated genomes.
    7. Claspin Overexpression Promotes Tumor Progression and Predicts Poor Clinical Outcome in Prostate Cancer.
      Title: Claspin Overexpression Promotes Tumor Progression and Predicts Poor Clinical Outcome in Prostate Cancer.
    8. OZF is a Claspin-interacting protein essential to maintain the replication fork progression rate under replication stress.
      Title: OZF is a Claspin-interacting protein essential to maintain the replication fork progression rate under replication stress.
    9. Smoothened Promotes Glioblastoma Radiation Resistance Via Activating USP3-Mediated Claspin Deubiquitination.
      Title: Smoothened Promotes Glioblastoma Radiation Resistance Via Activating USP3-Mediated Claspin Deubiquitination.
    10. Posttranscriptional control of the replication stress response via TTP-mediated Claspin mRNA stabilization.
      Title: Posttranscriptional control of the replication stress response via TTP-mediated Claspin mRNA stabilization.
    Submit: New GeneRIF Correction See all GeneRIFs (57)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC131612, MGC131613, MGC131615

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA secondary structure binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables anaphase-promoting complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables anaphase-promoting complex binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of DNA replication checkpoint signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within DNA replication checkpoint signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in activation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitotic DNA replication checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic DNA replication checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic G2 DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic G2 DNA damage checkpoint signaling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    claspin
    Names
    claspin homolog

    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.

    mRNA and Protein(s)

    1. NM_001190481.2 → NP_001177410.1  claspin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AF297866, AL354864, BC115025, BC137279
      Consensus CDS
      CCDS53297.1
      UniProtKB/TrEMBL
      Q1RMC5
      Related
      ENSP00000362317.3, ENST00000373220.7

    2. NM_001330490.2 → NP_001317419.1  claspin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL354864
      Consensus CDS
      CCDS81299.1
      UniProtKB/TrEMBL
      Q1RMC5
      Related
      ENSP00000251195.5, ENST00000251195.9

    3. NM_022111.4 → NP_071394.2  claspin isoform 1

      See identical proteins and their annotated locations for NP_071394.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF297866, AL354864, BC137279
      Consensus CDS
      CCDS396.1
      UniProtKB/Swiss-Prot
      A6NFL4, Q1RMC6, Q2KHM3, Q5VYG0, Q6P6H5, Q8IWI1, Q9HAW4
      UniProtKB/TrEMBL
      Q1RMC5
      Related
      ENSP00000312995.3, ENST00000318121.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      35720213..35769978 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      35583157..35632902 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HAW4.3 GenPept UniProtKB/Swiss-Prot:Q9HAW4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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