Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the... See more...

Aliases for CSE1L Gene

Aliases for CSE1L Gene

  • Chromosome Segregation 1 Like 2 3 5
  • Cellular Apoptosis Susceptibility Protein 3 4
  • Chromosome Segregation 1-Like Protein 3 4
  • Importin-Alpha Re-Exporter 3 4
  • Exportin-2 3 4
  • Exp2 3 4
  • XPO2 3 4
  • CAS 3 4
  • Chromosome Segregation 1 (Yeast Homolog)-Like 2
  • Epididymis Secretory Sperm Binding Protein 3
  • CSE1 Chromosome Segregation 1-Like (Yeast) 2
  • CSE1 Chromosome Segregation 1-Like 3
  • CSE1 Chromosome Segregation 1 Like 2
  • Cellular Apoptosis Susceptibility 2
  • CSE1 3

External Ids for CSE1L Gene

Previous GeneCards Identifiers for CSE1L Gene

  • GC20P047391
  • GC20P048302
  • GC20P048348
  • GC20P047096
  • GC20P047662
  • GC20P044412

Summaries for CSE1L Gene

Entrez Gene Summary for CSE1L Gene

  • Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for CSE1L Gene

CSE1L (Chromosome Segregation 1 Like) is a Protein Coding gene. Diseases associated with CSE1L include Colorectal Cancer. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation and Direct p53 effectors. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is IPO7.

UniProtKB/Swiss-Prot Summary for CSE1L Gene

  • Export receptor for importin-alpha. Mediates importin-alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the importin-alpha from the export receptor. CSE1L/XPO2 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.

Additional gene information for CSE1L Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSE1L Gene

Genomics for CSE1L Gene

GeneHancer (GH) Regulatory Elements for CSE1L Gene

Promoters and enhancers for CSE1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSE1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSE1L gene promoter:
  • E4BP4
  • FOXL1
  • Gfi-1
  • HFH-1
  • HNF-4alpha1
  • HNF-4alpha2
  • Ik-3
  • MRF-2
  • Pax-6
  • Sp1

Genomic Locations for CSE1L Gene

Genomic Locations for CSE1L Gene
chr20:49,046,246-49,096,960
(GRCh38/hg38)
Size:
50,715 bases
Orientation:
Plus strand
chr20:47,662,838-47,713,489
(GRCh37/hg19)
Size:
50,652 bases
Orientation:
Plus strand

Genomic View for CSE1L Gene

Genes around CSE1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSE1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSE1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSE1L Gene

Proteins for CSE1L Gene

  • Protein details for CSE1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55060-XPO2_HUMAN
    Recommended name:
    Exportin-2
    Protein Accession:
    P55060
    Secondary Accessions:
    • A3RLL6
    • B2R5T4
    • E1P5Y0
    • F8W904
    • O75432
    • Q32M40
    • Q9H5B7
    • Q9NTS0
    • Q9UP98
    • Q9UP99
    • Q9UPA0

    Protein attributes for CSE1L Gene

    Size:
    971 amino acids
    Molecular mass:
    110417 Da
    Quaternary structure:
    • Found in a complex with CSE1L/XPO2, Ran and KPNA2 (PubMed:9323134, PubMed:9786944). Binds with high affinity to importin-alpha only in the presence of RanGTP. The complex is dissociated by the combined action of RanBP1 and RanGAP1 (PubMed:9323134). Interacts with CFTR (PubMed:20933420).

    Alternative splice isoforms for CSE1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSE1L Gene

Post-translational modifications for CSE1L Gene

  • Ubiquitination at Lys165, Lys440, Lys726, Lys824, Lys925, and Lys934
  • Modification sites at PhosphoSitePlus

Other Protein References for CSE1L Gene

Antibody Products

No data available for DME Specific Peptides for CSE1L Gene

Domains & Families for CSE1L Gene

Gene Families for CSE1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Suggested Antigen Peptide Sequences for CSE1L Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59343, highly similar to Exportin-2 (B4DM67_HUMAN)
  • cDNA FLJ53202, highly similar to Exportin-2 (B4DUC5_HUMAN)
  • Importin-alpha re-exporter (XPO2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55060

UniProtKB/Swiss-Prot:

XPO2_HUMAN :
  • Belongs to the XPO2/CSE1 family.
Family:
  • Belongs to the XPO2/CSE1 family.
genes like me logo Genes that share domains with CSE1L: view

Function for CSE1L Gene

Molecular function for CSE1L Gene

UniProtKB/Swiss-Prot Function:
Export receptor for importin-alpha. Mediates importin-alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the importin-alpha from the export receptor. CSE1L/XPO2 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus.
GENATLAS Biochemistry:
cellular apoptosis susceptibility gene (CAS),human homolog of the yeast chromosome segregation gene 1 (CSE1),highly expressed in proliferating tissues,involved in the cell cycle of mammalian cells and in apoptosis,transport factor necessary for recycling of importin-alpha from the nucleus to the cytoplasm

Phenotypes From GWAS Catalog for CSE1L Gene

Gene Ontology (GO) - Molecular Function for CSE1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005049 nuclear export signal receptor activity IBA 21873635
GO:0005515 protein binding IPI 17719542
GO:0008536 Ran GTPase binding IEA --
genes like me logo Genes that share ontologies with CSE1L: view
genes like me logo Genes that share phenotypes with CSE1L: view

Animal Models for CSE1L Gene

MGI Knock Outs for CSE1L:

Animal Model Products

CRISPR Products

miRNA for CSE1L Gene

miRTarBase miRNAs that target CSE1L

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CSE1L Gene

Localization for CSE1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSE1L Gene

Cytoplasm. Nucleus. Note=Shuttles between the nucleus and the cytoplasm. {ECO:0000269 PubMed:9323134}.

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 CSE1L gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CSE1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 9323134
GO:0005635 nuclear envelope IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 9323134
GO:0005829 cytosol IDA,IBA --
genes like me logo Genes that share ontologies with CSE1L: view

Pathways & Interactions for CSE1L Gene

genes like me logo Genes that share pathways with CSE1L: view

Pathways by source for CSE1L Gene

2 BioSystems pathways for CSE1L Gene
1 GeneGo (Thomson Reuters) pathway for CSE1L Gene

Gene Ontology (GO) - Biological Process for CSE1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IBA 21873635
GO:0006611 protein export from nucleus IBA 21873635
GO:0006886 intracellular protein transport IEA --
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with CSE1L: view

No data available for SIGNOR curated interactions for CSE1L Gene

Drugs & Compounds for CSE1L Gene

(1) Drugs for CSE1L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with CSE1L: view

Transcripts for CSE1L Gene

mRNA/cDNA for CSE1L Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CSE1L Gene

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

ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b · 25c
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for CSE1L Gene

GeneLoc Exon Structure for
CSE1L
ECgene alternative splicing isoforms for
CSE1L

Expression for CSE1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSE1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CSE1L Gene

This gene is overexpressed in Bone (37.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CSE1L Gene



Protein tissue co-expression partners for CSE1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CSE1L Gene:

CSE1L

SOURCE GeneReport for Unigene cluster for CSE1L Gene:

Hs.90073

mRNA Expression by UniProt/SwissProt for CSE1L Gene:

P55060-XPO2_HUMAN
Tissue specificity: Detected in brain, placenta, ovary, testis and trachea (at protein level) (PubMed:10331944). Widely expressed (PubMed:10331944). Highly expressed in testis and in proliferating cells (PubMed:7479798,PubMed:10331944).

Evidence on tissue expression from TISSUES for CSE1L Gene

  • Nervous system(5)
  • Liver(4.5)
  • Stomach(3.3)
  • Skin(3.2)
  • Heart(2.5)
  • Intestine(2.4)
  • Kidney(2.4)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with CSE1L: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CSE1L Gene

Orthologs for CSE1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CSE1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSE1L 33 32
  • 99.9 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CSE1L 33
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSE1L 33
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CSE1L 33 32
  • 94.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CSE1L 33 32
  • 93.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cse1l 17 33 32
  • 89.53 (n)
rat
(Rattus norvegicus)
Mammalia Cse1l 32
  • 89.08 (n)
chicken
(Gallus gallus)
Aves CSE1L 33 32
  • 84.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSE1L 33
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cse1l 32
  • 77.1 (n)
Str.7149 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.11576 32
zebrafish
(Danio rerio)
Actinopterygii cse1l 33 32 32
  • 73.7 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5928 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010711 32
  • 55.24 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cas 33 34 32
  • 54.77 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea xpo-2 33
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CSE1 35 33 32
  • 49.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00869g 32
  • 48.11 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR273W 32
  • 47.54 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G46520 32
  • 48.12 (n)
rice
(Oryza sativa)
Liliopsida Os01g0235400 32
  • 45.39 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10467 33
  • 62 (a)
OneToOne
Cin.3837 32
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes kap109 32
  • 49.39 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04104 32
  • 44.36 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3837 32
Species where no ortholog for CSE1L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CSE1L Gene

ENSEMBL:
Gene Tree for CSE1L (if available)
TreeFam:
Gene Tree for CSE1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSE1L: view image

Paralogs for CSE1L Gene

Paralogs for CSE1L Gene

genes like me logo Genes that share paralogs with CSE1L: view

Variants for CSE1L Gene

Sequence variations from dbSNP and Humsavar for CSE1L Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
VAR_036558 A colorectal cancer sample p.Cys842Phe
rs1000019775 -- 49,059,473(+) A/G intron_variant
rs1000073282 -- 49,074,961(+) G/A intron_variant
rs1000092651 -- 49,063,461(+) C/T intron_variant
rs1000122289 -- 49,080,466(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CSE1L Gene

Variant ID Type Subtype PubMed ID
esv2762079 CNV gain 21179565
esv3646009 CNV gain 21293372
nsv1066050 CNV gain 25217958
nsv1067146 CNV loss 25217958

Variation tolerance for CSE1L Gene

Residual Variation Intolerance Score: 2.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.92; 48.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSE1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSE1L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSE1L Gene

Disorders for CSE1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for CSE1L Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
colorectal cancer
  • crc
- elite association - COSMIC cancer census association via MalaCards
Search CSE1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CSE1L

genes like me logo Genes that share disorders with CSE1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSE1L Gene

Publications for CSE1L Gene

  1. Cloning and characterization of a cellular apoptosis susceptibility gene, the human homologue to the yeast chromosome segregation gene CSE1. (PMID: 7479798) Brinkmann U … Pastan I (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4 23 56
  2. Tissue-specific alternative splicing of the CSE1L/CAS (cellular apoptosis susceptibility) gene. (PMID: 10331944) Brinkmann U … Pastan I (Genomics 1999) 3 4 23 56
  3. The human CAS (cellular apoptosis susceptibility) gene mapping on chromosome 20q13 is amplified in BT474 breast cancer cells and part of aberrant chromosomes in breast and colon cancer cell lines. (PMID: 8963895) Brinkmann U … Pastan I (Genome research 1996) 2 3 23 56
  4. Function of CSE1L/CAS in the secretion of HT-29 human colorectal cells and its expression in human colon. (PMID: 19224336) Tsao TY … Jiang MC (Molecular and cellular biochemistry 2009) 3 23 56
  5. Dissection of the molecular mechanisms that control the nuclear accumulation of transport factors importin-alpha and CAS in stressed cells. (PMID: 18425415) Kodiha M … Stochaj U (Cellular and molecular life sciences : CMLS 2008) 3 23 56

Products for CSE1L Gene

Sources for CSE1L Gene