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UniProtKB - Q96EE3 (SEH1_HUMAN)

Protein

Nucleoporin SEH1

Gene

SEH1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore.2 Publications
As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210).3 Publications

GO - Molecular functioni

  • identical protein binding Source: GO_Central
  • structural molecule activity Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell cycle, Cell division, Chromosome partition, Mitosis, mRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1169408 ISG15 antiviral mechanism
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
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
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
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-5663220 RHO GTPases Activate Formins
R-HSA-6784531 tRNA processing in the nucleus
R-HSA-68877 Mitotic Prometaphase
SignaLinkiQ96EE3
SIGNORiQ96EE3

Protein family/group databases

TCDBi1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family

Names & Taxonomyi

Protein namesi
Recommended name:
Nucleoporin SEH1Curated
Alternative name(s):
GATOR complex protein SEH1Curated
Nup107-160 subcomplex subunit SEH1
SEC13-like protein
Gene namesi
Name:SEH1L
Synonyms:SEC13L, SEH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000085415.15
HGNCiHGNC:30379 SEH1L
MIMi609263 gene
neXtProtiNX_Q96EE3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore, Lysosome, Membrane, Nuclear pore complex, Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000085415
PharmGKBiPA134912135

Polymorphism and mutation databases

BioMutaiSEH1L
DMDMi257051064

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000512131 – 360Nucleoporin SEH1Add BLAST360

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki12Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei179PhosphoserineCombined sources1
Modified residuei190PhosphoserineCombined sources1
Isoform B (identifier: Q96EE3-1)
Modified residuei365PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ96EE3
PaxDbiQ96EE3
PeptideAtlasiQ96EE3
PRIDEiQ96EE3
ProteomicsDBi76398
76399 [Q96EE3-1]

PTM databases

iPTMnetiQ96EE3
PhosphoSitePlusiQ96EE3
SwissPalmiQ96EE3

Expressioni

Gene expression databases

BgeeiENSG00000085415 Expressed in 226 organ(s), highest expression level in female gonad
CleanExiHS_SEH1L
ExpressionAtlasiQ96EE3 baseline and differential
GenevisibleiQ96EE3 HS

Organism-specific databases

HPAiHPA039964

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 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi123629, 91 interactors
CORUMiQ96EE3
IntActiQ96EE3, 65 interactors
MINTiQ96EE3
STRINGi9606.ENSP00000382779

Structurei

3D structure databases

ProteinModelPortaliQ96EE3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati10 – 49WD 1Add BLAST40
Repeati55 – 96WD 2Add BLAST42
Repeati111 – 152WD 3Add BLAST42
Repeati160 – 210WD 4Add BLAST51
Repeati217 – 258WD 5Add BLAST42
Repeati276 – 315WD 6Add BLAST40

Sequence similaritiesi

Belongs to the WD repeat SEC13 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2445 Eukaryota
ENOG410XRNW LUCA
GeneTreeiENSGT00550000074999
HOGENOMiHOG000216896
InParanoidiQ96EE3
KOiK14299
OMAiHKDVIHD
OrthoDBiEOG091G09MA
PhylomeDBiQ96EE3
TreeFamiTF105924

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView 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
PANTHERiPTHR11024 PTHR11024, 1 hit
PTHR11024:SF3 PTHR11024:SF3, 1 hit
PfamiView protein in Pfam
PF00400 WD40, 2 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q96EE3-2) [UniParc]FASTAAdd to basket
Also known as: SEH1A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:360
Mass (Da):39,649
Last modified:September 1, 2009 - v3
Checksum:iFB9ED2440C4EC9AB
GO
Isoform B (identifier: Q96EE3-1) [UniParc]FASTAAdd to basket
Also known as: SEH1B

The sequence of this isoform differs from the canonical sequence as follows:
     358-360: KHS → YFFTPLDSPRAGSRWSSYAQLLPPPPPPLVEHSCDADTANLQYPHPRRRYLSRPLNPLPENEGI

Show »
Length:421
Mass (Da):46,578
Checksum:i0662C6681BB6CE68
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EPZ5K7EPZ5_HUMAN
Nucleoporin SEH1
SEH1L
77Annotation score:
K7ELV2K7ELV2_HUMAN
Nucleoporin SEH1
SEH1L
263Annotation score:
K7ENI5K7ENI5_HUMAN
Nucleoporin SEH1
SEH1L
158Annotation score:
K7EP88K7EP88_HUMAN
Nucleoporin SEH1
SEH1L
189Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti78S → P in BAB71317 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053417342T → N2 PublicationsCorresponds to variant dbSNP:rs6505776Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037954358 – 360KHS → YFFTPLDSPRAGSRWSSYAQ LLPPPPPPLVEHSCDADTAN LQYPHPRRRYLSRPLNPLPE NEGI in isoform B. 2 Publications3

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
CCDSiCCDS32791.1 [Q96EE3-1]
CCDS45832.1 [Q96EE3-2]
RefSeqiNP_001013455.1, NM_001013437.1 [Q96EE3-1]
NP_112493.2, NM_031216.3 [Q96EE3-2]
UniGeneiHs.301048

Genome annotation databases

EnsembliENST00000262124; ENSP00000262124; ENSG00000085415 [Q96EE3-2]
ENST00000399892; ENSP00000382779; ENSG00000085415 [Q96EE3-1]
GeneIDi81929
KEGGihsa:81929
UCSCiuc002krq.5 human [Q96EE3-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS32791.1 [Q96EE3-1]
CCDS45832.1 [Q96EE3-2]
RefSeqiNP_001013455.1, NM_001013437.1 [Q96EE3-1]
NP_112493.2, NM_031216.3 [Q96EE3-2]
UniGeneiHs.301048

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5A9Qelectron microscopy23.007/G/P/Y1-360[»]
ProteinModelPortaliQ96EE3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123629, 91 interactors
CORUMiQ96EE3
IntActiQ96EE3, 65 interactors
MINTiQ96EE3
STRINGi9606.ENSP00000382779

Protein family/group databases

TCDBi1.I.1.1.3 the eukaryotic nuclear pore complex (e-npc) family

PTM databases

iPTMnetiQ96EE3
PhosphoSitePlusiQ96EE3
SwissPalmiQ96EE3

Polymorphism and mutation databases

BioMutaiSEH1L
DMDMi257051064

Proteomic databases

EPDiQ96EE3
PaxDbiQ96EE3
PeptideAtlasiQ96EE3
PRIDEiQ96EE3
ProteomicsDBi76398
76399 [Q96EE3-1]

Protocols and materials databases

DNASUi81929
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262124; ENSP00000262124; ENSG00000085415 [Q96EE3-2]
ENST00000399892; ENSP00000382779; ENSG00000085415 [Q96EE3-1]
GeneIDi81929
KEGGihsa:81929
UCSCiuc002krq.5 human [Q96EE3-2]

Organism-specific databases

CTDi81929
EuPathDBiHostDB:ENSG00000085415.15
GeneCardsiSEH1L
HGNCiHGNC:30379 SEH1L
HPAiHPA039964
MIMi609263 gene
neXtProtiNX_Q96EE3
OpenTargetsiENSG00000085415
PharmGKBiPA134912135
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2445 Eukaryota
ENOG410XRNW LUCA
GeneTreeiENSGT00550000074999
HOGENOMiHOG000216896
InParanoidiQ96EE3
KOiK14299
OMAiHKDVIHD
OrthoDBiEOG091G09MA
PhylomeDBiQ96EE3
TreeFamiTF105924

Enzyme and pathway databases

ReactomeiR-HSA-1169408 ISG15 antiviral mechanism
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
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
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
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-5663220 RHO GTPases Activate Formins
R-HSA-6784531 tRNA processing in the nucleus
R-HSA-68877 Mitotic Prometaphase
SignaLinkiQ96EE3
SIGNORiQ96EE3

Miscellaneous databases

ChiTaRSiSEH1L human
GenomeRNAii81929
PROiPR:Q96EE3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000085415 Expressed in 226 organ(s), highest expression level in female gonad
CleanExiHS_SEH1L
ExpressionAtlasiQ96EE3 baseline and differential
GenevisibleiQ96EE3 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView 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
PANTHERiPTHR11024 PTHR11024, 1 hit
PTHR11024:SF3 PTHR11024:SF3, 1 hit
PfamiView protein in Pfam
PF00400 WD40, 2 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiSEH1_HUMAN
AccessioniPrimary (citable) accession number: Q96EE3
Secondary accession number(s): A8K5B1
, Q8NFU6, Q96MH3, Q9C069
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: September 1, 2009
Last modified: November 7, 2018
This is version 162 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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