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    CSE1L chromosome segregation 1 like [ Homo sapiens (human) ]

    Gene ID: 1434, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CSE1Lprovided by HGNC
    Official Full Name
    chromosome segregation 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:2431
    See related
    Ensembl:ENSG00000124207 MIM:601342; AllianceGenome:HGNC:2431
    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
    CAS; CSE1; XPO2
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 57.6), esophagus (RPKM 21.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CSE1L in Genome Data Viewer
    Location:
    20q13.13
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (49046312..49096949)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (50815816..50866450)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (47662849..47713486)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18053 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47663207-47663847 Neighboring gene synaptosome associated protein 23 pseudogene 1 Neighboring gene CSE1L divergent transcript Neighboring gene ReSE screen-validated silencer GRCh37_chr20:47734294-47734451 Neighboring gene staufen double-stranded RNA binding protein 1 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:47797000-47797528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:47835541-47836266 Neighboring gene DEAD-box helicase 27

    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. Function of CSE1L/CAS in the secretion of HT-29 human colorectal cells and its expression in human colon. Tsao TY, et al. Mol Cell Biochem, 2009 Jul. PMID 19224336
    2. High expression of the proliferation and apoptosis associated CSE1L/CAS gene in hepatitis and liver neoplasms: correlation with tumor progression. Wellmann A, et al. Int J Mol Med, 2001 May. PMID 11295109
    3. IRF-1-mediated CAS expression enhances interferon-gamma-induced apoptosis of HT-29 colon adenocarcinoma cells. Jiang MC, et al. Mol Cell Biol Res Commun, 2001 Nov. PMID 11703094
    4. Implication of the proliferation and apoptosis associated CSE1L/CAS gene for breast cancer development. Behrens P, et al. Anticancer Res, 2001 Jul-Aug. PMID 11724300
    5. Cellular apoptosis susceptibility protein and proliferation in human hepatocellular carcinoma. Shiraki K, et al. Int J Mol Med, 2006 Jul. PMID 16786158

    See all (264) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DDX27 regulates oral squamous cell carcinoma development through targeting CSE1L.
      Title: DDX27 regulates oral squamous cell carcinoma development through targeting CSE1L.
    2. Mechanism of exportin retention in the cell nucleus.
      Title: Mechanism of exportin retention in the cell nucleus.
    3. The role of CSE1L silencing in the regulation of proliferation and apoptosis via the AMPK/mTOR signaling pathway in chronic myeloid leukemia.
      Title: The role of CSE1L silencing in the regulation of proliferation and apoptosis via the AMPK/mTOR signaling pathway in chronic myeloid leukemia.
    4. [Expression and Clinical Significance of CAS in Acute Myeloid Leukemia Patients].
      Title: [Expression and Clinical Significance of CAS in Acute Myeloid Leukemia Patients].
    5. Butyrate supplementation regulates expression of chromosome segregation 1like protein to reverse the genetic distortion caused by p53 mutations in colorectal cancer.
      Title: Butyrate supplementation regulates expression of chromosome segregation 1‑like protein to reverse the genetic distortion caused by p53 mutations in colorectal cancer.
    6. PHY34 inhibits autophagy through V-ATPase V0A2 subunit inhibition and CAS/CSE1L nuclear cargo trafficking in high grade serous ovarian cancer.
      Title: PHY34 inhibits autophagy through V-ATPase V0A2 subunit inhibition and CAS/CSE1L nuclear cargo trafficking in high grade serous ovarian cancer.
    7. The microRNA-451a/chromosome segregation 1-like axis suppresses cell proliferation, migration, and invasion and induces apoptosis in nasopharyngeal carcinoma.
      Title: The microRNA-451a/chromosome segregation 1-like axis suppresses cell proliferation, migration, and invasion and induces apoptosis in nasopharyngeal carcinoma.
    8. CSE1L promotes nuclear accumulation of transcriptional coactivator TAZ and enhances invasiveness of human cancer cells.
      Title: CSE1L promotes nuclear accumulation of transcriptional coactivator TAZ and enhances invasiveness of human cancer cells.
    9. Functional regulation of human trophoblast cells by CSE1L.
      Title: Functional regulation of human trophoblast cells by CSE1L.
    10. CSE1L promotes proliferation and migration in oral cancer through positively regulating MITF.
      Title: CSE1L promotes proliferation and migration in oral cancer through positively regulating MITF.
    Submit: New GeneRIF Correction See all GeneRIFs (46)

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of proneness to anger.
    EBI GWAS Catalog

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat upregulates chromosome segregation 1-like (yeast) in HEK 293T cells PubMed
    integrase gag-pol Using acetylated HIV-1 IN as bait in yeast two-hybrid screening identifies nuclear import-export proteins Exp2 and RanBP9 as IN-binding partners PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • MGC117283, MGC130036, MGC130037

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclear export signal receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    exportin-2
    Names
    CSE1 chromosome segregation 1-like
    cellular apoptosis susceptibility protein
    chromosome segregation 1-like protein
    epididymis secretory sperm binding protein
    exp2
    importin-alpha re-exporter

    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_001256135.2 → NP_001243064.1  exportin-2 isoform 2

      See identical proteins and their annotated locations for NP_001243064.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AI018123, AI973168, BC109314, DC402014, EF426455
      Consensus CDS
      CCDS58773.1
      UniProtKB/TrEMBL
      B4DM31
      Related
      ENSP00000379495.3, ENST00000396192.7
      Conserved Domains (3) summary
      smart00913
      Location:29 → 102
      IBN_N; Importin-beta N-terminal domain
      pfam03378
      Location:471 → 906
      CAS_CSE1; CAS/CSE protein, C-terminus
      cl27876
      Location:156 → 469
      Cse1; Cse1

    2. NM_001316.4 → NP_001307.2  exportin-2 isoform 1

      See identical proteins and their annotated locations for NP_001307.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AI018123, AI973168, BC109314, DC402014
      Consensus CDS
      CCDS13412.1
      UniProtKB/Swiss-Prot
      A3RLL6, B2R5T4, E1P5Y0, F8W904, O75432, P55060, Q32M40, Q9H5B7, Q9NTS0, Q9UP98, Q9UP99, Q9UPA0
      UniProtKB/TrEMBL
      A0A384NKW7
      Related
      ENSP00000262982.2, ENST00000262982.3
      Conserved Domains (3) summary
      smart00913
      Location:29 → 102
      IBN_N; Importin-beta N-terminal domain
      pfam03378
      Location:527 → 962
      CAS_CSE1; CAS/CSE protein, C-terminus
      pfam08506
      Location:156 → 526
      Cse1

    3. NM_001362762.2 → NP_001349691.1  exportin-2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL121903, AL133174
      Conserved Domains (3) summary
      smart00913
      Location:29 → 102
      IBN_N; Importin-beta N-terminal domain
      pfam08506
      Location:156 → 525
      Cse1; Cse1
      pfam03378
      Location:527 → 942
      CAS_CSE1; CAS/CSE protein, C-terminus

    RNA

    1. NR_045796.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks 3 consecutive exons, and uses alternate splice sites at 2 other exons compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon (with a strong Kozak signal), as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI018123, AI973168, AK300589, BC109314, DC402014

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      49046312..49096949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      50815816..50866450
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_177436.1: Suppressed sequence

      Description
      NM_177436.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55060.3 GenPept UniProtKB/Swiss-Prot:P55060

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
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