UniProtKB - Q96EE3 (SEH1_HUMAN)
Nucleoporin SEH1
SEH1L
Functioni
GO - Molecular functioni
- structural molecule activity Source: InterPro
GO - Biological processi
- attachment of mitotic spindle microtubules to kinetochore Source: UniProtKB
- cell division Source: UniProtKB-KW
- cellular protein-containing complex localization Source: UniProtKB
- cellular response to amino acid starvation Source: UniProtKB
- defense response to Gram-positive bacterium Source: Ensembl
- intracellular transport of virus Source: Reactome
- mitotic metaphase plate congression Source: UniProtKB
- mitotic nuclear envelope reassembly Source: Reactome
- mitotic spindle organization Source: Reactome
- mRNA export from nucleus Source: Reactome
- nuclear pore organization Source: UniProtKB
- positive regulation of TORC1 signaling Source: UniProtKB
- positive regulation of TOR signaling Source: SGD
- protein sumoylation Source: Reactome
- regulation of cellular response to heat Source: Reactome
- regulation of gene silencing by miRNA Source: Reactome
- regulation of glycolytic process Source: Reactome
- tRNA export from nucleus Source: Reactome
- viral life cycle Source: Reactome
- viral process Source: Reactome
- viral transcription Source: Reactome
Keywordsi
Biological process | Cell cycle, Cell division, Chromosome partition, Mitosis, mRNA transport, Protein transport, Translocation, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q96EE3 |
Reactomei | R-HSA-1169408, ISG15 antiviral mechanism R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal [Q96EE3-1] R-HSA-159227, Transport of the SLBP independent Mature mRNA R-HSA-159230, Transport of the SLBP Dependant Mature mRNA R-HSA-159231, Transport of Mature mRNA Derived from an Intronless Transcript R-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript R-HSA-165054, Rev-mediated nuclear export of HIV RNA R-HSA-168271, Transport of Ribonucleoproteins into the Host Nucleus R-HSA-168276, NS1 Mediated Effects on Host Pathways R-HSA-168325, Viral Messenger RNA Synthesis R-HSA-168333, NEP/NS2 Interacts with the Cellular Export Machinery R-HSA-170822, Regulation of Glucokinase by Glucokinase Regulatory Protein R-HSA-180746, Nuclear import of Rev protein R-HSA-180910, Vpr-mediated nuclear import of PICs R-HSA-191859, snRNP Assembly R-HSA-2467813, Separation of Sister Chromatids [Q96EE3-1] R-HSA-2500257, Resolution of Sister Chromatid Cohesion [Q96EE3-1] R-HSA-3108214, SUMOylation of DNA damage response and repair proteins R-HSA-3232142, SUMOylation of ubiquitinylation proteins R-HSA-3301854, Nuclear Pore Complex (NPC) Disassembly R-HSA-3371453, Regulation of HSF1-mediated heat shock response R-HSA-4085377, SUMOylation of SUMOylation proteins R-HSA-4551638, SUMOylation of chromatin organization proteins R-HSA-4570464, SUMOylation of RNA binding proteins R-HSA-4615885, SUMOylation of DNA replication proteins R-HSA-5578749, Transcriptional regulation by small RNAs R-HSA-5619107, Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) R-HSA-5663220, RHO GTPases Activate Formins [Q96EE3-1] R-HSA-6784531, tRNA processing in the nucleus R-HSA-68877, Mitotic Prometaphase [Q96EE3-1] R-HSA-9609690, HCMV Early Events R-HSA-9610379, HCMV Late Events R-HSA-9615933, Postmitotic nuclear pore complex (NPC) reformation [Q96EE3-1] R-HSA-9639288, Amino acids regulate mTORC1 R-HSA-9648025, EML4 and NUDC in mitotic spindle formation [Q96EE3-1] |
SignaLinki | Q96EE3 |
SIGNORi | Q96EE3 |
Protein family/group databases
TCDBi | 1.I.1.1.3, the nuclear pore complex (npc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Nucleoporin SEH1CuratedAlternative name(s): GATOR complex protein SEH1Curated Nup107-160 subcomplex subunit SEH1 SEC13-like protein |
Gene namesi | Name:SEH1L Synonyms:SEC13L, SEH1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:30379, SEH1L |
MIMi | 609263, gene |
neXtProti | NX_Q96EE3 |
VEuPathDBi | HostDB:ENSG00000085415.15 |
Subcellular locationi
Lysosome
- Lysosome membrane 1 Publication
Nucleus
- nuclear pore complex 2 Publications
Other locations
- kinetochore 2 Publications
Cytosol
- cytosol Source: Reactome
Lysosome
- lysosomal membrane Source: UniProtKB
Nucleus
- nuclear envelope Source: Reactome
- nuclear pore outer ring Source: UniProtKB
Other locations
- condensed chromosome kinetochore Source: UniProtKB-SubCell
- GATOR2 complex Source: SGD
- host cell Source: GOC
- Seh1-associated complex Source: GO_Central
Keywords - Cellular componenti
Centromere, Chromosome, Kinetochore, Lysosome, Membrane, Nuclear pore complex, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 81929 |
OpenTargetsi | ENSG00000085415 |
PharmGKBi | PA134912135 |
Miscellaneous databases
Pharosi | Q96EE3, Tbio |
Genetic variation databases
BioMutai | SEH1L |
DMDMi | 257051064 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000051213 | 1 – 360 | Nucleoporin SEH1Add BLAST | 360 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Cross-linki | 12 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | |||
Modified residuei | 179 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 190 | PhosphoserineCombined sources | 1 | ||
Isoform B (identifier: Q96EE3-1) | |||||
Modified residuei | 365 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q96EE3 |
jPOSTi | Q96EE3 |
MassIVEi | Q96EE3 |
PaxDbi | Q96EE3 |
PeptideAtlasi | Q96EE3 |
PRIDEi | Q96EE3 |
ProteomicsDBi | 76398 [Q96EE3-2] 76399 [Q96EE3-1] |
PTM databases
iPTMneti | Q96EE3 |
PhosphoSitePlusi | Q96EE3 |
SwissPalmi | Q96EE3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000085415, Expressed in female gonad and 238 other tissues |
ExpressionAtlasi | Q96EE3, baseline and differential |
Genevisiblei | Q96EE3, HS |
Organism-specific databases
HPAi | ENSG00000085415, Low tissue specificity |
Interactioni
Subunit structurei
Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex includes NUP160, NUP133, NUP107, NUP98, NUP85, NUP43, NUP37, SEH1 and SEC13. The SEH1 subunit appears to be only weakly associated with the Nup107-160 subcomplex. Within the GATOR complex, component of the GATOR2 subcomplex, made of MIOS, SEC13, SEH1L, WDR24 and WDR59. The GATOR complex strongly interacts with RRAGA/RRAGC and RRAGB/RRAGC heterodimers (PubMed:17360435, PubMed:23723238). The GATOR2 complex interacts with CASTOR2 and CASTOR1; the interaction is negatively regulated by arginine (PubMed:26972053). The GATOR2 complex interacts with SESN1, SESN2 and SESN3; the interaction is negatively regulated by amino acids (PubMed:25263562, PubMed:25457612).
5 PublicationsBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 123629, 116 interactors |
ComplexPortali | CPX-6227, GATOR2 complex CPX-873, Nuclear pore complex |
CORUMi | Q96EE3 |
IntActi | Q96EE3, 77 interactors |
MINTi | Q96EE3 |
STRINGi | 9606.ENSP00000382779 |
Miscellaneous databases
RNActi | Q96EE3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 10 – 49 | WD 1Add BLAST | 40 | |
Repeati | 55 – 96 | WD 2Add BLAST | 42 | |
Repeati | 111 – 152 | WD 3Add BLAST | 42 | |
Repeati | 160 – 210 | WD 4Add BLAST | 51 | |
Repeati | 217 – 258 | WD 5Add BLAST | 42 | |
Repeati | 276 – 315 | WD 6Add BLAST | 40 |
Sequence similaritiesi
Keywords - Domaini
Repeat, WD repeatPhylogenomic databases
eggNOGi | KOG2445, Eukaryota |
GeneTreei | ENSGT00940000153393 |
HOGENOMi | CLU_032441_1_2_1 |
InParanoidi | Q96EE3 |
OMAi | HKDVIHD |
OrthoDBi | 944756at2759 |
PhylomeDBi | Q96EE3 |
TreeFami | TF105924 |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View protein in InterPro IPR020472, G-protein_beta_WD-40_rep IPR037597, Nucleoporin_Seh1 IPR037363, Sec13/Seh1_fam IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR017986, WD40_repeat_dom IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR11024, PTHR11024, 1 hit PTHR11024:SF3, PTHR11024:SF3, 1 hit |
Pfami | View protein in Pfam PF00400, WD40, 2 hits |
PRINTSi | PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00320, WD40, 5 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS50082, WD_REPEATS_2, 2 hits PS50294, WD_REPEATS_REGION, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MFVARSIAAD HKDLIHDVSF DFHGRRMATC SSDQSVKVWD KSESGDWHCT
60 70 80 90 100
ASWKTHSGSV WRVTWAHPEF GQVLASCSFD RTAAVWEEIV GESNDKLRGQ
110 120 130 140 150
SHWVKRTTLV DSRTSVTDVK FAPKHMGLML ATCSADGIVR IYEAPDVMNL
160 170 180 190 200
SQWSLQHEIS CKLSCSCISW NPSSSRAHSP MIAVGSDDSS PNAMAKVQIF
210 220 230 240 250
EYNENTRKYA KAETLMTVTD PVHDIAFAPN LGRSFHILAI ATKDVRIFTL
260 270 280 290 300
KPVRKELTSS GGPTKFEIHI VAQFDNHNSQ VWRVSWNITG TVLASSGDDG
310 320 330 340 350
CVRLWKANYM DNWKCTGILK GNGSPVNGSS QQGTSNPSLG STIPSLQNSL
360
NGSSAGRKHS
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7ELV2 | K7ELV2_HUMAN | Nucleoporin SEH1 | SEH1L | 263 | Annotation score: | ||
K7ENI5 | K7ENI5_HUMAN | Nucleoporin SEH1 | SEH1L | 158 | Annotation score: | ||
K7EP88 | K7EP88_HUMAN | Nucleoporin SEH1 | SEH1L | 189 | Annotation score: | ||
K7EPZ5 | K7EPZ5_HUMAN | Nucleoporin SEH1 | SEH1L | 77 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 78 | S → P in BAB71317 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_053417 | 342 | T → N2 PublicationsCorresponds to variant dbSNP:rs6505776Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_037954 | 358 – 360 | KHS → YFFTPLDSPRAGSRWSSYAQ LLPPPPPPLVEHSCDADTAN LQYPHPRRRYLSRPLNPLPE NEGI in isoform B. 2 Publications | 3 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF255625 mRNA Translation: AAM21169.1 AF431970 mRNA Translation: AAM44214.1 AF514996 mRNA Translation: AAM76707.1 AF136976 mRNA Translation: AAG49437.1 AK056940 mRNA Translation: BAB71317.1 AK291226 mRNA Translation: BAF83915.1 BC012430 mRNA Translation: AAH12430.1 |
CCDSi | CCDS32791.1 [Q96EE3-1] CCDS45832.1 [Q96EE3-2] |
RefSeqi | NP_001013455.1, NM_001013437.1 [Q96EE3-1] NP_112493.2, NM_031216.3 [Q96EE3-2] |
Genome annotation databases
Ensembli | ENST00000262124; ENSP00000262124; ENSG00000085415 [Q96EE3-2] ENST00000399892; ENSP00000382779; ENSG00000085415 [Q96EE3-1] |
GeneIDi | 81929 |
KEGGi | hsa:81929 |
UCSCi | uc002krq.5, human [Q96EE3-2] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF255625 mRNA Translation: AAM21169.1 AF431970 mRNA Translation: AAM44214.1 AF514996 mRNA Translation: AAM76707.1 AF136976 mRNA Translation: AAG49437.1 AK056940 mRNA Translation: BAB71317.1 AK291226 mRNA Translation: BAF83915.1 BC012430 mRNA Translation: AAH12430.1 |
CCDSi | CCDS32791.1 [Q96EE3-1] CCDS45832.1 [Q96EE3-2] |
RefSeqi | NP_001013455.1, NM_001013437.1 [Q96EE3-1] NP_112493.2, NM_031216.3 [Q96EE3-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5A9Q | electron microscopy | 23.00 | 7/G/P/Y | 1-360 | [»] | |
SMRi | Q96EE3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123629, 116 interactors |
ComplexPortali | CPX-6227, GATOR2 complex CPX-873, Nuclear pore complex |
CORUMi | Q96EE3 |
IntActi | Q96EE3, 77 interactors |
MINTi | Q96EE3 |
STRINGi | 9606.ENSP00000382779 |
Protein family/group databases
TCDBi | 1.I.1.1.3, the nuclear pore complex (npc) family |
PTM databases
iPTMneti | Q96EE3 |
PhosphoSitePlusi | Q96EE3 |
SwissPalmi | Q96EE3 |
Genetic variation databases
BioMutai | SEH1L |
DMDMi | 257051064 |
Proteomic databases
EPDi | Q96EE3 |
jPOSTi | Q96EE3 |
MassIVEi | Q96EE3 |
PaxDbi | Q96EE3 |
PeptideAtlasi | Q96EE3 |
PRIDEi | Q96EE3 |
ProteomicsDBi | 76398 [Q96EE3-2] 76399 [Q96EE3-1] |
Protocols and materials databases
Antibodypediai | 48526, 20 antibodies |
DNASUi | 81929 |
Genome annotation databases
Ensembli | ENST00000262124; ENSP00000262124; ENSG00000085415 [Q96EE3-2] ENST00000399892; ENSP00000382779; ENSG00000085415 [Q96EE3-1] |
GeneIDi | 81929 |
KEGGi | hsa:81929 |
UCSCi | uc002krq.5, human [Q96EE3-2] |
Organism-specific databases
CTDi | 81929 |
DisGeNETi | 81929 |
GeneCardsi | SEH1L |
HGNCi | HGNC:30379, SEH1L |
HPAi | ENSG00000085415, Low tissue specificity |
MIMi | 609263, gene |
neXtProti | NX_Q96EE3 |
OpenTargetsi | ENSG00000085415 |
PharmGKBi | PA134912135 |
VEuPathDBi | HostDB:ENSG00000085415.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2445, Eukaryota |
GeneTreei | ENSGT00940000153393 |
HOGENOMi | CLU_032441_1_2_1 |
InParanoidi | Q96EE3 |
OMAi | HKDVIHD |
OrthoDBi | 944756at2759 |
PhylomeDBi | Q96EE3 |
TreeFami | TF105924 |
Enzyme and pathway databases
PathwayCommonsi | Q96EE3 |
Reactomei | R-HSA-1169408, ISG15 antiviral mechanism R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal [Q96EE3-1] R-HSA-159227, Transport of the SLBP independent Mature mRNA R-HSA-159230, Transport of the SLBP Dependant Mature mRNA R-HSA-159231, Transport of Mature mRNA Derived from an Intronless Transcript R-HSA-159236, Transport of Mature mRNA derived from an Intron-Containing Transcript R-HSA-165054, Rev-mediated nuclear export of HIV RNA R-HSA-168271, Transport of Ribonucleoproteins into the Host Nucleus R-HSA-168276, NS1 Mediated Effects on Host Pathways R-HSA-168325, Viral Messenger RNA Synthesis R-HSA-168333, NEP/NS2 Interacts with the Cellular Export Machinery R-HSA-170822, Regulation of Glucokinase by Glucokinase Regulatory Protein R-HSA-180746, Nuclear import of Rev protein R-HSA-180910, Vpr-mediated nuclear import of PICs R-HSA-191859, snRNP Assembly R-HSA-2467813, Separation of Sister Chromatids [Q96EE3-1] R-HSA-2500257, Resolution of Sister Chromatid Cohesion [Q96EE3-1] R-HSA-3108214, SUMOylation of DNA damage response and repair proteins R-HSA-3232142, SUMOylation of ubiquitinylation proteins R-HSA-3301854, Nuclear Pore Complex (NPC) Disassembly R-HSA-3371453, Regulation of HSF1-mediated heat shock response R-HSA-4085377, SUMOylation of SUMOylation proteins R-HSA-4551638, SUMOylation of chromatin organization proteins R-HSA-4570464, SUMOylation of RNA binding proteins R-HSA-4615885, SUMOylation of DNA replication proteins R-HSA-5578749, Transcriptional regulation by small RNAs R-HSA-5619107, Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC) R-HSA-5663220, RHO GTPases Activate Formins [Q96EE3-1] R-HSA-6784531, tRNA processing in the nucleus R-HSA-68877, Mitotic Prometaphase [Q96EE3-1] R-HSA-9609690, HCMV Early Events R-HSA-9610379, HCMV Late Events R-HSA-9615933, Postmitotic nuclear pore complex (NPC) reformation [Q96EE3-1] R-HSA-9639288, Amino acids regulate mTORC1 R-HSA-9648025, EML4 and NUDC in mitotic spindle formation [Q96EE3-1] |
SignaLinki | Q96EE3 |
SIGNORi | Q96EE3 |
Miscellaneous databases
BioGRID-ORCSi | 81929, 701 hits in 1006 CRISPR screens |
ChiTaRSi | SEH1L, human |
GenomeRNAii | 81929 |
Pharosi | Q96EE3, Tbio |
PROi | PR:Q96EE3 |
RNActi | Q96EE3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000085415, Expressed in female gonad and 238 other tissues |
ExpressionAtlasi | Q96EE3, baseline and differential |
Genevisiblei | Q96EE3, HS |
Family and domain databases
Gene3Di | 2.130.10.10, 1 hit |
InterProi | View protein in InterPro IPR020472, G-protein_beta_WD-40_rep IPR037597, Nucleoporin_Seh1 IPR037363, Sec13/Seh1_fam IPR015943, WD40/YVTN_repeat-like_dom_sf IPR001680, WD40_repeat IPR017986, WD40_repeat_dom IPR036322, WD40_repeat_dom_sf |
PANTHERi | PTHR11024, PTHR11024, 1 hit PTHR11024:SF3, PTHR11024:SF3, 1 hit |
Pfami | View protein in Pfam PF00400, WD40, 2 hits |
PRINTSi | PR00320, GPROTEINBRPT |
SMARTi | View protein in SMART SM00320, WD40, 5 hits |
SUPFAMi | SSF50978, SSF50978, 1 hit |
PROSITEi | View protein in PROSITE PS50082, WD_REPEATS_2, 2 hits PS50294, WD_REPEATS_REGION, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SEH1_HUMAN | |
Accessioni | Q96EE3Primary (citable) accession number: Q96EE3 Secondary accession number(s): A8K5B1 Q9C069 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 28, 2003 |
Last sequence update: | September 1, 2009 | |
Last modified: | April 7, 2021 | |
This is version 180 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families