• Gene id: 2733

Gene Summary

• Gene Symbol: GLE1   Gene   UCSC   Ensembl
• Aliases: CAAHC, CAAHD, GLE1L, LCCS, LCCS1, hGLE1
• Gene name: GLE1 RNA export mediator
• Alternate names: nucleoporin GLE1, GLE1 RNA export mediator homolog, GLE1 RNA export mediator-like, GLE1-like protein, GLE1-like, RNA export mediator,
• Gene location: 9q34.11 (128504691: 128542291)     Exons: 2     NC_000009.12
• Gene summary(Entrez): This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection o
• OMIM: 603371

Protein Summary

• Protein general information: Q53GS7  
  • Name: Nucleoporin GLE1 (hGLE1) (GLE1 like protein)
  • Length: 698  
  • Mass: 79836
• Sequence:

  MPSEGRCWETLKALRSSDKGRLCYYRDWLLRREDVLEECMSLPKLSSYSGWVVEHVLPHMQENQPLSETSPSSTS
  ASALDQPSFVPKSPDASSAFSPASPATPNGTKGKDESQHTESMVLQSSRGIKVEGCVRMYELVHRMKGTEGLRLW
  QEEQERKVQALSEMASEQLKRFDEWKELKQHKEFQDLREVMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQ
  QRVKQAEQERLRKEEGQIRLRALYALQEEMLQLSQQLDASEQHKALLKVDLAAFQTRGNQLCSLISGIIRASSES
  SYPTAESQAEAERALREMRDLLMNLGQEITRACEDKRRQDEEEAQVKLQEAQMQQGPEAHKEPPAPSQGPGGKQN
  EDLQVKVQDITMQWYQQLQDASMQCVLTFEGLTNSKDSQAKKIKMDLQKAATIPVSQISTIAGSKLKEIFDKIHS
  LLSGKPVQSGGRSVSVTLNPQGLDFVQYKLAEKFVKQGEEEVASHHEAAFPIAVVASGIWELHPRVGDLILAHLH
  KKCPYSVPFYPTFKEGMALEDYQRMLGYQVKDSKVEQQDNFLKRMSGMIRLYAAIIQLRWPYGNRQEIHPHGLNH
  GWRWLAQILNMEPLSDVTATLLFDFLEVCGNALMKQYQVQFWKMLILIKEDYFPRIEAITSSGQMGSFIRLKQFL
  EKCLQHKDIPVPKGFLTSSFWRS

• Structural information:
  • Interpro: IPR012476  IPR038506  
  • PDB: 6B4F 6B4I 6B4J
  • PDBsum: 6B4F 6B4I 6B4J
  • STRING: ENSP00000308622
• Other Databases: GeneCards:  GLE1  Malacards:  GLE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005635	nuclear envelope	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005543	phospholipid binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006406	mRNA export from nucleus	IBA	biological process
GO:0006449	regulation of translational termination	IBA	biological process
GO:0000822	inositol hexakisphosphate binding	IBA	molecular function
GO:0006446	regulation of translational initiation	IBA	biological process
GO:0031369	translation initiation factor binding	IBA	molecular function
GO:0044614	nuclear pore cytoplasmic filaments	IBA	cellular component
GO:0005643	nuclear pore	IEA	cellular component
GO:0016973	poly(A)+ mRNA export from nucleus	IEA	biological process
GO:0051028	mRNA transport	IEA	biological process
GO:0005643	nuclear pore	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0005643	nuclear pore	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005643	nuclear pore	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Lethal congenital contractural syndrome	KEGG:H00865
Congenital arthrogryposis with anterior horn cell disease	KEGG:H01030
Lethal congenital contractural syndrome	KEGG:H00865
Congenital arthrogryposis with anterior horn cell disease	KEGG:H01030
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R