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

Gene ID: 1434, updated on 7-Apr-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
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Genomic context

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Location:
20q13.13
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (49046312..49096949)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (50815816..50866450)
105.20220307 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
  • 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. The role of CSE1L silencing in the regulation of proliferation and apoptosis via the AMPK/mTOR signaling pathway in chronic myeloid leukemia. Liu XY, et al. Hematology, 2023 Dec. PMID 36652402
  2. [Expression and Clinical Significance of CAS in Acute Myeloid Leukemia Patients]. Guo HR, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2022 Jun. PMID 35680799
  3. Butyrate supplementation regulates expression of chromosome segregation 1‑like protein to reverse the genetic distortion caused by p53 mutations in colorectal cancer. Chang CC, et al. Int J Oncol, 2022 Jun. PMID 35417036, Free PMC Article
  4. PHY34 inhibits autophagy through V-ATPase V0A2 subunit inhibition and CAS/CSE1L nuclear cargo trafficking in high grade serous ovarian cancer. Salvi A, et al. Cell Death Dis, 2022 Jan 10. PMID 35013112, Free PMC Article
  5. Functional regulation of human trophoblast cells by CSE1L. Zhou Y, et al. J Matern Fetal Neonatal Med, 2021 May. PMID 31394954

See all (235) 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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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_2023_10

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

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