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CLSPN claspin [ Homo sapiens (human) ]

Gene ID: 63967, updated on 7-Apr-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
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Genomic context

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Location:
1p34.3
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (35720213..35769978, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (35583157..35632902, complement)
105.20220307 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
  • 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. 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
  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. Posttranscriptional control of the replication stress response via TTP-mediated Claspin mRNA stabilization. Lee TH, et al. Oncogene, 2020 Apr. PMID 32086441
  5. Claspin overexpression is associated with high-grade histology and poor prognosis in renal cell carcinoma. Kobayashi G, et al. Cancer Sci, 2020 Mar. PMID 31912588, Free PMC Article

See all (119) 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 IBA
Inferred from Biological aspect of Ancestor
more info
  
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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NEW Try the new Transcript table

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_2023_10

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.

Chemical Information
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