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Aliases for SEH1L Gene

Aliases for SEH1L Gene

  • SEH1 Like Nucleoporin 2 3 5
  • Nup107-160 Subcomplex Subunit SEH1 3 4
  • GATOR Complex Protein SEH1 3 4
  • Sec13 Like Protein 2 3
  • SEC13-Like Protein 3 4
  • SEC13L 3 4
  • Seh1 3 4
  • SEH1-Like (S. Cerevisiae) 2
  • SEH1-Like Nucleoporin 2
  • Nucleoporin Seh1 2
  • Nucleoporin SEH1 3
  • SEH1A 3
  • SEH1B 3

External Ids for SEH1L Gene

Previous GeneCards Identifiers for SEH1L Gene

  • GC18P012939
  • GC18P012901

Summaries for SEH1L Gene

Entrez Gene Summary for SEH1L Gene

  • 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 this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SEH1L Gene

SEH1L (SEH1 Like Nucleoporin) is a Protein Coding gene. Diseases associated with SEH1L include Nail Disorder, Nonsyndromic Congenital, 4. Among its related pathways are Mitotic Prophase and SUMOylation.

UniProtKB/Swiss-Prot for SEH1L Gene

  • 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.

  • 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).

Additional gene information for SEH1L Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SEH1L Gene

Genomics for SEH1L Gene

GeneHancer (GH) Regulatory Elements for SEH1L Gene

Promoters and enhancers for SEH1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I012946 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 558.1 +0.6 574 3.3 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SEH1L CEP192 PSMG2 PTPN2 RNMT ENSG00000267249 GC18M015028
GH18I012989 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.1 +44.0 44022 3.7 YBX1 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 NFYC CEP192 ENSG00000266969 PSMG2 PTPN2 PRELID3A CEP76 ENSG00000267249 ENSG00000267199 ENSG00000260302 RNMT
GH18I012729 Enhancer 0.9 ENCODE 11.5 -216.8 -216770 1.1 ELF3 FOXA2 MLX ARID4B DMAP1 THRB RARA ETS1 FOS CREM SPIRE1 CEP76 PSMG2 SEH1L PTPN2 CEP192 PRELID3A RNU7-129P GC18M015420 LINC01882
GH18I012727 Enhancer 0.9 ENCODE dbSUPER 11.5 -219.9 -219896 0.2 CTCF CEBPG RAD21 ARID2 SMC3 ZNF143 NR2F6 ZNF444 ZNF654 NR2F1 GC18M015420 SPIRE1 SEH1L CEP76 PSMG2 PTPN2 CEP192 PRELID3A RNU7-129P LINC01882
GH18I012944 Enhancer 0.9 Ensembl ENCODE dbSUPER 8.1 -2.2 -2235 1 OSR2 FOXA2 POLR2A ZNF341 PRDM10 KDM1A YY1 CEP192 CEP76 PSMG2 SEH1L PTPN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SEH1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEH1L gene promoter:

Genomic Locations for SEH1L Gene

Genomic Locations for SEH1L Gene
chr18:12,947,133-12,987,537
(GRCh38/hg38)
Size:
40,405 bases
Orientation:
Plus strand
chr18:12,947,132-12,987,535
(GRCh37/hg19)

Genomic View for SEH1L Gene

Genes around SEH1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEH1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEH1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEH1L Gene

Proteins for SEH1L Gene

  • Protein details for SEH1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EE3-SEH1_HUMAN
    Recommended name:
    Nucleoporin SEH1
    Protein Accession:
    Q96EE3
    Secondary Accessions:
    • A8K5B1
    • Q8NFU6
    • Q96MH3
    • Q9C069

    Protein attributes for SEH1L Gene

    Size:
    360 amino acids
    Molecular mass:
    39649 Da
    Quaternary structure:
    • 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).

    Three dimensional structures from OCA and Proteopedia for SEH1L Gene

    Alternative splice isoforms for SEH1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEH1L Gene

Post-translational modifications for SEH1L Gene

  • Ubiquitination at posLast=1212, posLast=9696, isoforms=2306, and posLast=314314

No data available for DME Specific Peptides for SEH1L Gene

Domains & Families for SEH1L Gene

Gene Families for SEH1L Gene

Suggested Antigen Peptide Sequences for SEH1L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96EE3

UniProtKB/Swiss-Prot:

SEH1_HUMAN :
  • Belongs to the WD repeat SEC13 family.
Family:
  • Belongs to the WD repeat SEC13 family.
genes like me logo Genes that share domains with SEH1L: view

Function for SEH1L Gene

Molecular function for SEH1L Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for SEH1L Gene

Gene Ontology (GO) - Molecular Function for SEH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 24315095
GO:0017056 structural constituent of nuclear pore IEA --
genes like me logo Genes that share ontologies with SEH1L: view

Phenotypes for SEH1L Gene

genes like me logo Genes that share phenotypes with SEH1L: view

Animal Models for SEH1L Gene

MGI Knock Outs for SEH1L:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEH1L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEH1L Gene

Localization for SEH1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEH1L Gene

Chromosome, centromere, kinetochore. Nucleus, nuclear pore complex. Lysosome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEH1L gene
Compartment Confidence
nucleus 5
cytosol 5
lysosome 5

Gene Ontology (GO) - Cellular Components for SEH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 colocalizes_with kinetochore IEA,IDA 15146057
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
GO:0005643 nuclear pore IEA --
genes like me logo Genes that share ontologies with SEH1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEH1L Gene

Pathways & Interactions for SEH1L Gene

SuperPathways for SEH1L Gene

SuperPathway Contained pathways
1 Transport of the SLBP independent Mature mRNA
2 HIV Life Cycle
.45
3 Cell Cycle, Mitotic
.60
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with SEH1L: view

Gene Ontology (GO) - Biological Process for SEH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002534 cytokine production involved in inflammatory response IEA --
GO:0006110 regulation of glycolytic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with SEH1L: view

No data available for SIGNOR curated interactions for SEH1L Gene

Drugs & Compounds for SEH1L Gene

No Compound Related Data Available

Transcripts for SEH1L Gene

Unigene Clusters for SEH1L Gene

SEH1-like (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for SEH1L

Alternative Splicing Database (ASD) splice patterns (SP) for SEH1L Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12
SP1: - - - -
SP2: - - - - -
SP3: -
SP4: - - -
SP5:
SP6: - -
SP7:
SP8: -

Relevant External Links for SEH1L Gene

GeneLoc Exon Structure for
SEH1L
ECgene alternative splicing isoforms for
SEH1L

Expression for SEH1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEH1L Gene

Protein differential expression in normal tissues from HIPED for SEH1L Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEH1L Gene



Protein tissue co-expression partners for SEH1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SEH1L Gene:

SEH1L

SOURCE GeneReport for Unigene cluster for SEH1L Gene:

Hs.301048

Evidence on tissue expression from TISSUES for SEH1L Gene

  • Adrenal gland(4.2)
  • Eye(4.2)
  • Liver(4.2)
  • Muscle(4.2)
  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with SEH1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEH1L Gene

Orthologs for SEH1L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SEH1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEH1L 33 34
  • 99.29 (n)
oppossum
(Monodelphis domestica)
Mammalia SEH1L 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 95 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SEH1L 33 34
  • 94.84 (n)
cow
(Bos Taurus)
Mammalia SEH1L 33 34
  • 91.41 (n)
rat
(Rattus norvegicus)
Mammalia LOC100911798 33
  • 89.68 (n)
mouse
(Mus musculus)
Mammalia Seh1l 33 16 34
  • 89.36 (n)
chicken
(Gallus gallus)
Aves SEH1L 33 34
  • 85.04 (n)
lizard
(Anolis carolinensis)
Reptilia SEH1L 34
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia seh1l 33
  • 78.46 (n)
Str.2999 33
zebrafish
(Danio rerio)
Actinopterygii seh1l 33 34
  • 73.24 (n)
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005174 33
  • 59.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nup44A 33 34
  • 57.36 (n)
worm
(Caenorhabditis elegans)
Secernentea npp-18 33 34
  • 52.67 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEH1 33 34 36
  • 50.79 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06754g 33
  • 49.33 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL038C 33
  • 46.03 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2368 34
  • 58 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes seh1 33
  • 51.47 (n)
Species where no ortholog for SEH1L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SEH1L Gene

ENSEMBL:
Gene Tree for SEH1L (if available)
TreeFam:
Gene Tree for SEH1L (if available)

Paralogs for SEH1L Gene

(3) SIMAP similar genes for SEH1L Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SEH1L: view

No data available for Paralogs for SEH1L Gene

Variants for SEH1L Gene

Sequence variations from dbSNP and Humsavar for SEH1L Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000020009 -- 12,953,172(+) G/T intron_variant
rs1000069438 -- 12,952,717(+) T/C intron_variant
rs1000114582 -- 12,975,110(+) A/G intron_variant
rs1000153155 -- 12,982,405(+) G/A intron_variant
rs1000166883 -- 12,974,823(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SEH1L Gene

Variant ID Type Subtype PubMed ID
esv3330087 CNV duplication 20981092
nsv1057083 CNV gain 25217958
nsv1127616 CNV deletion 24896259
nsv576524 CNV gain 21841781

Variation tolerance for SEH1L Gene

Residual Variation Intolerance Score: 26.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEH1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEH1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEH1L Gene

Disorders for SEH1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for SEH1L Gene - From: DISEASES

Disorder Aliases PubMed IDs
nail disorder, nonsyndromic congenital, 4
  • ndnc4
- elite association - COSMIC cancer census association via MalaCards
Search SEH1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SEH1L

genes like me logo Genes that share disorders with SEH1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEH1L Gene

Publications for SEH1L Gene

  1. The entire Nup107-160 complex, including three new members, is targeted as one entity to kinetochores in mitosis. (PMID: 15146057) Loïodice I … Doye V (Molecular biology of the cell 2004) 2 3 4 58
  2. Proteomic analysis of the mammalian nuclear pore complex. (PMID: 12196509) Cronshaw JM … Matunis MJ (The Journal of cell biology 2002) 2 3 4 58
  3. KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1. (PMID: 28199306) Wolfson RL … Sabatini DM (Nature 2017) 3 4 58
  4. The CASTOR Proteins Are Arginine Sensors for the mTORC1 Pathway. (PMID: 26972053) Chantranupong L … Sabatini DM (Cell 2016) 3 4 58
  5. Sestrins inhibit mTORC1 kinase activation through the GATOR complex. (PMID: 25457612) Parmigiani A … Budanov AV (Cell reports 2014) 3 4 58

Products for SEH1L Gene

  • Addgene plasmids for SEH1L

Sources for SEH1L Gene

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