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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
  • 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 Anonychia Congenita. Among its related pathways are Transport of Mature Transcript to Cytoplasm and Regulation of Glucokinase by Glucokinase Regulatory Protein.

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 as an activator of the amino acid-sensing branch of the TORC1 pathway. Inhibits the GATOR1 subcomplex, an inhibitor of the amino acid-sensing branch of the TORC1 pathway (PubMed:23723238). Functions downstream and is regulated by amino acid sensors like SESN2 (PubMed:25457612).

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

Genomics for SEH1L Gene

Regulatory Elements for SEH1L Gene

Enhancers for SEH1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SEH1L on UCSC Golden Path with GeneCards custom track

Promoters for SEH1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for SEH1L Gene

Chromosome:
18
Start:
12,947,133 bp from pter
End:
12,987,537 bp from pter
Size:
40,405 bases
Orientation:
Plus strand

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 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).

    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 Lys 12, Lys 96, Lys 306, and Lys 314
  • Modification sites at PhosphoSitePlus

Other Protein References for SEH1L Gene

No data available for DME Specific Peptides for SEH1L Gene

Domains & Families for SEH1L Gene

Gene Families for SEH1L Gene

Protein Domains 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.
  • Contains 6 WD repeats.
Family:
  • Belongs to the WD repeat SEC13 family.
Similarity:
  • Contains 6 WD repeats.
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 as an activator of the amino acid-sensing branch of the TORC1 pathway. Inhibits the GATOR1 subcomplex, an inhibitor of the amino acid-sensing branch of the TORC1 pathway (PubMed:23723238). Functions downstream and is regulated by amino acid sensors like SESN2 (PubMed:25457612).

Gene Ontology (GO) - Molecular Function for SEH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24315095
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

Flow Cytometry Products

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SEH1L Gene COMPARTMENTS Subcellular localization image for SEH1L gene
Compartment Confidence
cytosol 5
nucleus 5

Gene Ontology (GO) - Cellular Components for SEH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 colocalizes_with kinetochore IDA 15146057
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005635 nuclear envelope TAS --
GO:0005829 cytosol TAS --
GO:0031080 nuclear pore outer ring NAS 15146057
genes like me logo Genes that share ontologies with SEH1L: view

Pathways & Interactions for SEH1L Gene

SuperPathways for SEH1L Gene

Superpath Contained pathways
1 Regulation of Glucokinase by Glucokinase Regulatory Protein
2 Infectious disease
.48
3 Cell Cycle, Mitotic
.61
4 Mitotic Prophase
5 Influenza Viral RNA Transcription and Replication
genes like me logo Genes that share pathways with SEH1L: view

Pathways by source for SEH1L Gene

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:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006999 nuclear pore organization IMP 15146057
GO:0007062 sister chromatid cohesion TAS --
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

Flow Cytometry Products

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 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
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 and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia SEH1L 34
  • 91.41 (n)
  • 98.32 (a)
SEH1L 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEH1L 34
  • 94.84 (n)
  • 97.62 (a)
SEH1L 35
  • 19 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Seh1l 34
  • 89.36 (n)
  • 96.08 (a)
Seh1l 16
Seh1l 35
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEH1L 34
  • 99.29 (n)
  • 99.05 (a)
SEH1L 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911798 34
  • 89.68 (n)
  • 95.24 (a)
oppossum
(Monodelphis domestica)
Mammalia SEH1L 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 95 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves SEH1L 34
  • 85.04 (n)
  • 93.56 (a)
SEH1L 35
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEH1L 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia seh1l 34
  • 78.46 (n)
  • 91.85 (a)
Str.2999 34
zebrafish
(Danio rerio)
Actinopterygii -- 34
seh1l 34
  • 73.24 (n)
  • 83.94 (a)
seh1l 35
  • 82 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005174 34
  • 59.52 (n)
  • 63.99 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nup44A 34
  • 57.36 (n)
  • 57.66 (a)
Nup44A 35
  • 55 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea npp-18 34
  • 52.67 (n)
  • 44 (a)
npp-18 35
  • 36 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL038C 34
  • 46.03 (n)
  • 39.46 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06754g 34
  • 49.33 (n)
  • 40.6 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEH1 34
  • 50.79 (n)
  • 41.22 (a)
SEH1 35
  • 35 (a)
OneToOne
SEH1 37
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes seh1 34
  • 51.47 (n)
  • 43.32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2368 35
  • 58 (a)
OneToOne
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 Sequence Context AA Info Type
rs977104 -- 12,982,892(-) CTTTA(C/G)TTTTG intron-variant
rs2902856 -- 12,984,341(+) TAGCT(A/C)TGTAT intron-variant
rs3070220 -- 12,962,485(+) ttttt(-/TTTT)gagag intron-variant
rs1300125 -- 12,958,166(-) gcgga(A/G)aatgc intron-variant
rs11080616 -- 12,962,000(+) TATCT(A/G)TGTGC 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)

Relevant External Links 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
anonychia congenita
  • nail disorder, nonsyndromic congenital, 4
- elite association - COSMIC cancer census association via MalaCards
Search SEH1L in MalaCards View complete list of genes associated with diseases

Relevant External Links for SEH1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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) Loieodice I. … Doye V. (Mol. Biol. Cell 2004) 2 3 4 65
  2. Proteomic analysis of the mammalian nuclear pore complex. (PMID: 12196509) Cronshaw J.M. … Matunis M.J. (J. Cell Biol. 2002) 2 3 4 65
  3. The CASTOR proteins are arginine sensors for the mTORC1 pathway. (PMID: 26972053) Chantranupong L. … Sabatini D.M. (Cell 2016) 3 4 65
  4. Sestrins inhibit mTORC1 kinase activation through the GATOR complex. (PMID: 25457612) Parmigiani A. … Budanov A.V. (Cell Rep 2014) 3 4 65
  5. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. (PMID: 23723238) Bar-Peled L. … Sabatini D.M. (Science 2013) 3 4 65

Products for SEH1L Gene

Sources for SEH1L Gene

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