• Gene id: 81929

Gene Summary

• Gene Symbol: SEH1L   Gene   UCSC   Ensembl
• Aliases: SEC13L, SEH1A, SEH1B, Seh1
• Gene name: SEH1 like nucleoporin
• Alternate names: nucleoporin SEH1, GATOR complex protein SEH1, SEC13-like protein, nup107-160 subcomplex subunit SEH1, sec13 like protein,
• Gene location: 18p11.21 (12947983: 12987664)     Exons: 12     NC_000018.10
• Gene summary(Entrez): The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including th
• OMIM: 609263

Protein Summary

• Protein general information: Q96EE3  
  • Name: Nucleoporin SEH1 (GATOR complex protein SEH1) (Nup107 160 subcomplex subunit SEH1) (SEC13 like protein)
  • Length: 360  
  • Mass: 39649
• Sequence:

  MFVARSIAADHKDLIHDVSFDFHGRRMATCSSDQSVKVWDKSESGDWHCTASWKTHSGSVWRVTWAHPEFGQVLA
  SCSFDRTAAVWEEIVGESNDKLRGQSHWVKRTTLVDSRTSVTDVKFAPKHMGLMLATCSADGIVRIYEAPDVMNL
  SQWSLQHEISCKLSCSCISWNPSSSRAHSPMIAVGSDDSSPNAMAKVQIFEYNENTRKYAKAETLMTVTDPVHDI
  AFAPNLGRSFHILAIATKDVRIFTLKPVRKELTSSGGPTKFEIHIVAQFDNHNSQVWRVSWNITGTVLASSGDDG
  CVRLWKANYMDNWKCTGILKGNGSPVNGSSQQGTSNPSLGSTIPSLQNSLNGSSAGRKHS

• Structural information:
  • Interpro: IPR020472  IPR037597  IPR037363  IPR015943  IPR001680   IPR017986  IPR036322  
  • Prosite: PS50082 PS50294
  • PDB: 5A9Q
  • PDBsum: 5A9Q
  • STRING: ENSP00000382779
• Other Databases: GeneCards:  SEH1L  Malacards:  SEH1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031080	nuclear pore outer ring	IBA	cellular component
GO:0034629	cellular protein-containing complex localization	IBA	biological process
GO:1904263	positive regulation of TORC1 signaling	IBA	biological process
GO:0035859	Seh1-associated complex	IBA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0031080	nuclear pore outer ring	IDA	cellular component
GO:0000776	kinetochore	IDA	colocalizes with
GO:0000776	kinetochore	IDA	colocalizes with
GO:1904263	positive regulation of TORC1 signaling	IMP	biological process
GO:0031080	nuclear pore outer ring	NAS	cellular component
GO:0031080	nuclear pore outer ring	NAS	cellular component
GO:0007080	mitotic metaphase plate congression	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051315	attachment of mitotic spindle microtubules to kinetochore	IMP	biological process
GO:0006999	nuclear pore organization	IMP	biological process
GO:0005198	structural molecule activity	IEA	molecular function
GO:1904263	positive regulation of TORC1 signaling	IEA	biological process
GO:0005643	nuclear pore	IEA	cellular component
GO:0000776	kinetochore	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0051028	mRNA transport	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0007059	chromosome segregation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0032008	positive regulation of TOR signaling	IMP	biological process
GO:0061700	GATOR2 complex	IDA	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0005635	nuclear envelope	TAS	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006409	tRNA export from nucleus	TAS	biological process
GO:0016032	viral process	TAS	biological process
GO:0016925	protein sumoylation	TAS	biological process
GO:0060964	regulation of gene silencing by miRNA	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006110	regulation of glycolytic process	TAS	biological process
GO:0019083	viral transcription	TAS	biological process
GO:0075733	intracellular transport of virus	TAS	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050830	defense response to Gram-positive bacterium	IEA	biological process
GO:0002534	cytokine production involved in inflammatory response	IEA	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005643	nuclear pore	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0043657	host cell	IEA	cellular component
GO:0034198	cellular response to amino acid starvation	IMP	biological process
GO:0034629	cellular protein-containing complex localization	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport
hsa04150	mTOR signaling pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray