Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1434
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CSE1L   Gene   UCSC   Ensembl
Aliases CAS, CSE1, XPO2
Gene name chromosome segregation 1 like
Alternate names exportin-2, CSE1 chromosome segregation 1-like, cellular apoptosis susceptibility protein, chromosome segregation 1-like protein, exp2, importin-alpha re-exporter,
Gene location 20q13.13 (46105075: 46053065)     Exons: 12     NC_000013.11
Gene summary(Entrez) 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]
OMIM 601342

Protein Summary

Protein general information P55060  

Name: Exportin-2 (Exp2) (Cellular apoptosis susceptibility protein) (Chromosome segregation 1-like protein) (Importin-alpha re-exporter)

Length: 971  Mass: 1,10,417

Tissue specificity: Detected in brain, placenta, ovary, testis and trachea (at protein level) (PubMed

Sequence MELSDANLQTLTEYLKKTLDPDPAIRRPAEKFLESVEGNQNYPLLLLTLLEKSQDNVIKVCASVTFKNYIKRNWR
IVEDEPNKICEADRVAIKANIVHLMLSSPEQIQKQLSDAISIIGREDFPQKWPDLLTEMVNRFQSGDFHVINGVL
RTAHSLFKRYRHEFKSNELWTEIKLVLDAFALPLTNLFKATIELCSTHANDASALRILFSSLILISKLFYSLNFQ
DLPEFFEDNMETWMNNFHTLLTLDNKLLQTDDEEEAGLLELLKSQICDNAALYAQKYDEEFQRYLPRFVTAIWNL
LVTTGQEVKYDLLVSNAIQFLASVCERPHYKNLFEDQNTLTSICEKVIVPNMEFRAADEEAFEDNSEEYIRRDLE
GSDIDTRRRAACDLVRGLCKFFEGPVTGIFSGYVNSMLQEYAKNPSVNWKHKDAAIYLVTSLASKAQTQKHGITQ
ANELVNLTEFFVNHILPDLKSANVNEFPVLKADGIKYIMIFRNQVPKEHLLVSIPLLINHLQAESIVVHTYAAHA
LERLFTMRGPNNATLFTAAEIAPFVEILLTNLFKALTLPGSSENEYIMKAIMRSFSLLQEAIIPYIPTLITQLTQ
KLLAVSKNPSKPHFNHYMFEAICLSIRITCKANPAAVVNFEEALFLVFTEILQNDVQEFIPYVFQVMSLLLETHK
NDIPSSYMALFPHLLQPVLWERTGNIPALVRLLQAFLERGSNTIASAAADKIPGLLGVFQKLIASKANDHQGFYL
LNSIIEHMPPESVDQYRKQIFILLFQRLQNSKTTKFIKSFLVFINLYCIKYGALALQEIFDGIQPKMFGMVLEKI
IIPEIQKVSGNVEKKICAVGITKLLTECPPMMDTEYTKLWTPLLQSLIGLFELPEDDTIPDEEHFIDIEDTPGYQ
TAFSQLAFAGKKEHDPVGQMVNNPKIHLAQSLHKLSTACPGRVPSMVSTSLNAEALQYLQGYLQAASVTLL
Structural information
Protein Domains
Importin (29-102)
Interpro:  IPR011989 IPR016024 IPR005043 IPR013713 IPR001494
Prosite:   PS50166

Pfam:  
PF03378 PF08506 PF03810

DIP:  
32573
MINT:  
STRING:   ENSP00000262982;
Other Databases GeneCards:  CSE1L;  Malacards:  CSE1L

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005049 nuclear export signal rec
eptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
TAS cellular_component
GO:0005635 nuclear envelope
IBA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005829 cytosol
IBA cellular_component
GO:0006606 protein import into nucle
us
IBA biological_process
GO:0006611 protein export from nucle
us
IEA biological_process
GO:0006915 apoptotic process
TAS biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0008536 Ran GTPase binding
IEA molecular_function
GO:0016020 membrane
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0005049 nuclear export signal rec
eptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
TAS cellular_component
GO:0005635 nuclear envelope
IBA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
TAS cellular_component
GO:0005829 cytosol
IBA cellular_component
GO:0006606 protein import into nucle
us
IBA biological_process
GO:0006611 protein export from nucle
us
IEA biological_process
GO:0006810 transport
IEA biological_process
GO:0006886 intracellular protein tra
nsport
IEA biological_process
GO:0006915 apoptotic process
TAS biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0008536 Ran GTPase binding
IEA molecular_function
GO:0015031 protein transport
IEA biological_process
GO:0016020 membrane
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0005049 nuclear export signal rec
eptor activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
TAS cellular_component
GO:0005635 nuclear envelope
IBA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005737 cytoplasm
TAS cellular_component
GO:0005829 cytosol
IBA cellular_component
GO:0006606 protein import into nucle
us
IBA biological_process
GO:0006915 apoptotic process
TAS biological_process
GO:0008283 cell proliferation
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component

Diseases

Associated diseases References
Endometriosis INFBASE29630856

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
29630856 Endometrio
sis


CAS
CD147
nuclearB-cat
Show abstract