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Protein

Nucleoporin SEH1

Gene

SEH1L

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 GATSL3 (PubMed:25457612, PubMed:27487210).3 Publications

GO - Biological processi

  • attachment of mitotic spindle microtubules to kinetochore Source: UniProtKB
  • cell division Source: UniProtKB-KW
  • cellular protein complex localization Source: UniProtKB
  • cellular response to amino acid starvation Source: UniProtKB
  • cytokine production involved in inflammatory response Source: Ensembl
  • defense response to Gram-positive bacterium Source: Ensembl
  • gene silencing by RNA Source: Reactome
  • intracellular transport of virus Source: Reactome
  • mitotic metaphase plate congression Source: UniProtKB
  • mitotic nuclear envelope disassembly 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
  • protein transport Source: UniProtKB-KW
  • regulation of cellular response to heat Source: Reactome
  • regulation of glucose transport Source: Reactome
  • sister chromatid cohesion Source: Reactome
  • tRNA export from nucleus Source: Reactome
  • viral process Source: Reactome
  • viral transcription Source: Reactome
Complete GO annotation...

Keywords - Biological processi

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

Enzyme and pathway databases

ReactomeiR-HSA-1169408. ISG15 antiviral mechanism.
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-3301854. Nuclear Pore Complex (NPC) Disassembly.
R-HSA-3371453. Regulation of HSF1-mediated heat shock response.
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.

Protein family/group databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Nucleoporin SEH1
Alternative name(s):
Nup107-160 subcomplex subunit SEH1
SEC13-like protein
Gene namesi
Name:SEH1L
Synonyms:SEC13L, SEH1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:30379. SEH1L.

Subcellular locationi

GO - Cellular componenti

  • condensed chromosome kinetochore Source: UniProtKB-SubCell
  • cytosol Source: Reactome
  • GATOR2 complex Source: SGD
  • nuclear envelope Source: Reactome
  • nuclear pore outer ring Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore, 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
Modified residuei179PhosphoserineCombined sources1
Modified residuei190PhosphoserineCombined sources1
Isoform B (identifier: Q96EE3-1)
Modified residuei365PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96EE3.
PaxDbiQ96EE3.
PeptideAtlasiQ96EE3.
PRIDEiQ96EE3.

PTM databases

iPTMnetiQ96EE3.
PhosphoSitePlusiQ96EE3.
SwissPalmiQ96EE3.

Expressioni

Gene expression databases

BgeeiENSG00000085415.
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 GATSL2 and GATSL3; 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

WithEntry#Exp.IntActNotes
NUP85Q9BW273EBI-922818,EBI-716392
SEC13P557353EBI-922818,EBI-1046596

Protein-protein interaction databases

BioGridi123629. 76 interactors.
IntActiQ96EE3. 60 interactors.
MINTiMINT-3052384.
STRINGi9606.ENSP00000382779.

Structurei

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...

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
Contains 6 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2445. Eukaryota.
ENOG410XRNW. LUCA.
GeneTreeiENSGT00550000074999.
HOGENOMiHOG000216896.
InParanoidiQ96EE3.
KOiK14299.
OMAiIYEAPDI.
OrthoDBiEOG091G09MA.
PhylomeDBiQ96EE3.
TreeFamiTF105924.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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 → N.2 PublicationsCorresponds to variant rs6505776dbSNPEnsembl.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

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. 76 interactors.
IntActiQ96EE3. 60 interactors.
MINTiMINT-3052384.
STRINGi9606.ENSP00000382779.

Protein family/group databases

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

PTM databases

iPTMnetiQ96EE3.
PhosphoSitePlusiQ96EE3.
SwissPalmiQ96EE3.

Polymorphism and mutation databases

BioMutaiSEH1L.
DMDMi257051064.

Proteomic databases

EPDiQ96EE3.
PaxDbiQ96EE3.
PeptideAtlasiQ96EE3.
PRIDEiQ96EE3.

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.
GeneCardsiSEH1L.
HGNCiHGNC:30379. SEH1L.
HPAiHPA039964.
MIMi609263. gene.
neXtProtiNX_Q96EE3.
OpenTargetsiENSG00000085415.
PharmGKBiPA134912135.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2445. Eukaryota.
ENOG410XRNW. LUCA.
GeneTreeiENSGT00550000074999.
HOGENOMiHOG000216896.
InParanoidiQ96EE3.
KOiK14299.
OMAiIYEAPDI.
OrthoDBiEOG091G09MA.
PhylomeDBiQ96EE3.
TreeFamiTF105924.

Enzyme and pathway databases

ReactomeiR-HSA-1169408. ISG15 antiviral mechanism.
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-3301854. Nuclear Pore Complex (NPC) Disassembly.
R-HSA-3371453. Regulation of HSF1-mediated heat shock response.
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.

Miscellaneous databases

ChiTaRSiSEH1L. human.
GenomeRNAii81929.
PROiQ96EE3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000085415.
CleanExiHS_SEH1L.
ExpressionAtlasiQ96EE3. baseline and differential.
GenevisibleiQ96EE3. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 2 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50082. WD_REPEATS_2. 2 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSEH1_HUMAN
AccessioniPrimary (citable) accession number: Q96EE3
Secondary accession number(s): A8K5B1
, Q8NFU6, Q96MH3, Q9C069
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 28, 2003
Last sequence update: September 1, 2009
Last modified: November 30, 2016
This is version 142 of the entry and version 3 of the sequence. [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. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.