Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CLSPN Gene

Aliases for CLSPN Gene

  • Claspin 2 3 3 5
  • Claspin Homolog (Xenopus Laevis) 2
  • Claspin Homolog 3
  • HClaspin 4

External Ids for CLSPN Gene

Previous GeneCards Identifiers for CLSPN Gene

  • GC01M035241
  • GC01M035613
  • GC01M035614
  • GC01M035855
  • GC01M035958
  • GC01M036185
  • GC01M034315

Summaries for CLSPN Gene

Entrez Gene Summary for CLSPN Gene

  • 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]

GeneCards Summary for CLSPN Gene

CLSPN (Claspin) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include anaphase-promoting complex binding.

UniProtKB/Swiss-Prot for CLSPN Gene

  • Required for checkpoint mediated cell cycle arrest in response to inhibition of DNA replication or to DNA damage induced by both ionizing and UV irradiation. Adapter protein which binds to BRCA1 and the checkpoint kinase CHEK1 and facilitates the ATR-dependent phosphorylation of both proteins. Can also bind specifically to branched DNA structures and may associate with S-phase chromatin following formation of the pre-replication complex (pre-RC). This may indicate a role for this protein as a sensor which monitors the integrity of DNA replication forks.

Gene Wiki entry for CLSPN Gene

Additional gene information for CLSPN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLSPN Gene

Genomics for CLSPN Gene

GeneHancer (GH) Regulatory Elements for CLSPN Gene

Promoters and enhancers for CLSPN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I035768 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 550.8 +0.2 214 2.7 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 E2F8 CLSPN ENSG00000230163 THRAP3 ZMYM4 ZMYM1 LOC653160 AGO3 LOC105378647 AGO4 TRAPPC3
GH01I035640 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.6 +128.6 128589 2.8 PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 PSMB2 SFPQ ENSG00000230163 LOC653160 ZMYM1 TFAP2E LOC105378647 ZMYM6 C1orf216 THRAP3
GH01I035706 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.1 +62.1 62078 2.1 KLF17 BATF ZNF335 GLIS2 KLF7 EGR2 SP3 ZNF398 ZNF610 GLIS1 GC01M035706 LOC105378645 TFAP2E ENSG00000232335 CLSPN KIAA0319L NCDN TEKT2 AGO1 PIR49848
GH01I035577 Promoter/Enhancer 1.2 Ensembl ENCODE 10.9 +192.3 192251 1.1 ZNF687 ZNF3 SUZ12 NR2F1 MAX EBF1 ELF1 E4F1 POLR2A ETV6 LOC105378645 ENSG00000232335 CLSPN TFAP2E
GH01I035444 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.4 +320.3 320285 11.4 HDGF FOXA2 PKNOX1 RB1 ARNT ARID4B RAD21 YY1 ARID2 ZNF143 KIAA0319L NCDN ENSG00000232335 CLSPN ZMYM4 GC01P035455 GC01M035428
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CLSPN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CLSPN gene promoter:

Genomic Locations for CLSPN Gene

Genomic Locations for CLSPN Gene
chr1:35,720,218-35,769,997
(GRCh38/hg38)
Size:
49,780 bases
Orientation:
Minus strand
chr1:36,185,819-36,235,568
(GRCh37/hg19)

Genomic View for CLSPN Gene

Genes around CLSPN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLSPN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLSPN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLSPN Gene

Proteins for CLSPN Gene

  • Protein details for CLSPN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAW4-CLSPN_HUMAN
    Recommended name:
    Claspin
    Protein Accession:
    Q9HAW4
    Secondary Accessions:
    • A6NFL4
    • Q1RMC6
    • Q2KHM3
    • Q5VYG0
    • Q6P6H5
    • Q8IWI1

    Protein attributes for CLSPN Gene

    Size:
    1339 amino acids
    Molecular mass:
    151094 Da
    Quaternary structure:
    • Interacts (phosphorylation-dependent) with CHEK1; regulates CLSPN function in checkpoint for DNA damage and replication. Interacts with ATR and RAD9A and these interactions are slightly reduced during checkpoint activation. Interacts with BRCA1 and this interaction increases during checkpoint activation. Interacts with TIMELESS.
    SequenceCaution:
    • Sequence=AAH38991.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH62215.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for CLSPN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLSPN Gene

Post-translational modifications for CLSPN Gene

  • Phosphorylated. Undergoes ATR-dependent phosphorylation by CHEK1 during activation of DNA replication or damage checkpoints. Phosphorylation by CSNK1G1/CK1 promotes CHEK1 binding.
  • Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C) during G1 phase, leading to its degradation by the proteasome. Ubiquitination is mediated via its interaction with FZR1/CDH1. Following DNA damage, it is deubiquitinated by USP28 in G2 phase, preventing its degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CLSPN Gene

Domains & Families for CLSPN Gene

Gene Families for CLSPN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CLSPN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CLSPN Gene

Graphical View of Domain Structure for InterPro Entry

Q9HAW4

UniProtKB/Swiss-Prot:

CLSPN_HUMAN :
  • The C-terminus of the protein contains 3 potential CHEK1-binding motifs (CKB motifs). Potential phosphorylation sites within CKB motif 1 and CKB motif 2 are required for interaction with CHEK1.
  • Belongs to the claspin family.
Domain:
  • The C-terminus of the protein contains 3 potential CHEK1-binding motifs (CKB motifs). Potential phosphorylation sites within CKB motif 1 and CKB motif 2 are required for interaction with CHEK1.
Family:
  • Belongs to the claspin family.
genes like me logo Genes that share domains with CLSPN: view

Function for CLSPN Gene

Molecular function for CLSPN Gene

UniProtKB/Swiss-Prot Function:
Required for checkpoint mediated cell cycle arrest in response to inhibition of DNA replication or to DNA damage induced by both ionizing and UV irradiation. Adapter protein which binds to BRCA1 and the checkpoint kinase CHEK1 and facilitates the ATR-dependent phosphorylation of both proteins. Can also bind specifically to branched DNA structures and may associate with S-phase chromatin following formation of the pre-replication complex (pre-RC). This may indicate a role for this protein as a sensor which monitors the integrity of DNA replication forks.
UniProtKB/Swiss-Prot Induction:
Expression peaks at S/G2 phases of the cell cycle.

Phenotypes From GWAS Catalog for CLSPN Gene

Gene Ontology (GO) - Molecular Function for CLSPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 16885022
GO:0010997 anaphase-promoting complex binding IPI 18662541
genes like me logo Genes that share ontologies with CLSPN: view
genes like me logo Genes that share phenotypes with CLSPN: view

Animal Models for CLSPN Gene

MGI Knock Outs for CLSPN:

miRNA for CLSPN Gene

miRTarBase miRNAs that target CLSPN

Clone Products

  • Addgene plasmids for CLSPN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLSPN Gene

Localization for CLSPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLSPN Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLSPN gene
Compartment Confidence
nucleus 5
golgi apparatus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLSPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with CLSPN: view

Pathways & Interactions for CLSPN Gene

genes like me logo Genes that share pathways with CLSPN: view

Pathways by source for CLSPN Gene

1 GeneGo (Thomson Reuters) pathway for CLSPN Gene
1 Cell Signaling Technology pathway for CLSPN Gene

SIGNOR curated interactions for CLSPN Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CLSPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IMP 16963448
GO:0006260 DNA replication TAS --
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with CLSPN: view

Drugs & Compounds for CLSPN Gene

(1) Drugs for CLSPN Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CLSPN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CLSPN: view

Transcripts for CLSPN Gene

Unigene Clusters for CLSPN Gene

Claspin:
Representative Sequences:

Clone Products

  • Addgene plasmids for CLSPN

Alternative Splicing Database (ASD) splice patterns (SP) for CLSPN Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for CLSPN Gene

GeneLoc Exon Structure for
CLSPN
ECgene alternative splicing isoforms for
CLSPN

Expression for CLSPN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLSPN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CLSPN Gene

This gene is overexpressed in Testis (x8.8).

Protein differential expression in normal tissues from HIPED for CLSPN Gene

This gene is overexpressed in Plasma (30.5), Adrenal (17.1), and Lung (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CLSPN Gene



NURSA nuclear receptor signaling pathways regulating expression of CLSPN Gene:

CLSPN

SOURCE GeneReport for Unigene cluster for CLSPN Gene:

Hs.175613

Evidence on tissue expression from TISSUES for CLSPN Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with CLSPN: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLSPN Gene

Orthologs for CLSPN Gene

This gene was present in the common ancestor of animals.

Orthologs for CLSPN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLSPN 33 34
  • 98.18 (n)
cow
(Bos Taurus)
Mammalia CLSPN 33 34
  • 86.89 (n)
dog
(Canis familiaris)
Mammalia CLSPN 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Clspn 33 16 34
  • 81.18 (n)
rat
(Rattus norvegicus)
Mammalia Clspn 33
  • 80.48 (n)
oppossum
(Monodelphis domestica)
Mammalia CLSPN 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CLSPN 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLSPN 33 34
  • 65.15 (n)
lizard
(Anolis carolinensis)
Reptilia CLSPN 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia clspn 33
  • 59.29 (n)
Str.6391 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398192 33
zebrafish
(Danio rerio)
Actinopterygii CLSPN (2 of 2) 34
  • 43 (a)
OneToMany
CLSPN (1 of 2) 34
  • 29 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG32251 34
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
OneToOne
Species where no ortholog for CLSPN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLSPN Gene

ENSEMBL:
Gene Tree for CLSPN (if available)
TreeFam:
Gene Tree for CLSPN (if available)

Paralogs for CLSPN Gene

No data available for Paralogs for CLSPN Gene

Variants for CLSPN Gene

Sequence variations from dbSNP and Humsavar for CLSPN Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
VAR_035674 A breast cancer sample p.His439Arg
rs1000009644 -- 35,736,718(-) G/A intron_variant
rs1000027309 -- 35,755,440(-) T/A intron_variant
rs1000258982 -- 35,750,293(-) C/T intron_variant
rs1000292083 -- 35,733,001(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CLSPN Gene

Variant ID Type Subtype PubMed ID
nsv834680 CNV gain 17160897

Variation tolerance for CLSPN Gene

Residual Variation Intolerance Score: 90.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.86; 97.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLSPN Gene

Human Gene Mutation Database (HGMD)
CLSPN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLSPN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLSPN Gene

Disorders for CLSPN Gene

Additional Disease Information for CLSPN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CLSPN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CLSPN Gene

Publications for CLSPN Gene

  1. Human claspin is required for replication checkpoint control. (PMID: 12766152) Chini CC … Chen J (The Journal of biological chemistry 2003) 2 3 4 22 58
  2. Claspin, a novel protein required for the activation of Chk1 during a DNA replication checkpoint response in Xenopus egg extracts. (PMID: 11090622) Kumagai A … Dunphy WG (Molecular cell 2000) 2 3 4 22 58
  3. Germline alterations in the CLSPN gene in breast cancer families. (PMID: 18077083) Erkko H … Winqvist R (Cancer letters 2008) 3 22 44 58
  4. A role for the deubiquitinating enzyme USP28 in control of the DNA-damage response. (PMID: 16901786) Zhang D … Elledge SJ (Cell 2006) 3 4 22 58
  5. Repeated phosphopeptide motifs in human Claspin are phosphorylated by Chk1 and mediate Claspin function. (PMID: 16963448) Chini CC … Chen J (The Journal of biological chemistry 2006) 3 4 22 58

Products for CLSPN Gene

  • Addgene plasmids for CLSPN

Sources for CLSPN Gene

Content
Loading form....