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... See more...

Aliases for SEH1L Gene

Aliases for SEH1L Gene

  • SEH1 Like Nucleoporin 2 3 5
  • SEC13L 2 3 4
  • Nup107-160 Subcomplex Subunit SEH1 3 4
  • GATOR Complex Protein SEH1 3 4
  • Sec13 Like Protein 2 3
  • SEC13-Like Protein 3 4
  • Nucleoporin SEH1 3 4
  • SEH1A 2 3
  • SEH1B 2 3
  • Seh1 2 3
  • SEH1-Like (S. Cerevisiae) 2
  • SEH1-Like Nucleoporin 2
  • Nucleoporin Seh1 2
  • SEH1L 5
  • SEH1 4

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 and Nonsyndromic Congenital Nail Disorder. Among its related pathways are Cell Cycle, Mitotic and Transport of the SLBP independent Mature mRNA. An important paralog of this gene is SEC13.

UniProtKB/Swiss-Prot Summary 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).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEH1L Gene

Genomics for SEH1L Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around SEH1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEH1L

Top Transcription factor binding sites by QIAGEN in the SEH1L gene promoter:
  • AML1a
  • c-Ets-1
  • c-Myc
  • En-1
  • FOXL1
  • FOXO4
  • GATA-1
  • GATA-2
  • Max1
  • MRF-2

Genomic Locations for SEH1L Gene

Latest Assembly
chr18:12,947,133-12,987,665
(GRCh38/hg38)
Size:
40,533 bases
Orientation:
Plus strand

Previous Assembly
chr18:12,948,010-12,987,535
(GRCh37/hg19 by Entrez Gene)
Size:
39,526 bases
Orientation:
Plus strand

chr18:12,947,132-12,987,535
(GRCh37/hg19 by Ensembl)
Size:
40,404 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 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 Lys12, Lys96, Lys306, and Lys314
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SEH1L Gene

Domains & Families for SEH1L Gene

Gene Families for SEH1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Suggested Antigen Peptide Sequences for SEH1L Gene

GenScript: Design optimal peptide antigens:
  • SEC13-like protein (SEH1_HUMAN)

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 IEA,IPI 24315095
genes like me logo Genes that share ontologies with SEH1L: view
genes like me logo Genes that share phenotypes with SEH1L: view

Animal Models for SEH1L Gene

MGI Knock Outs for SEH1L:
  • Seh1l Seh1l<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
endosome 2
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SEH1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 colocalizes_with kinetochore IEA,IDA 15146057
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS --
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

PathCards logo

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:0006110 regulation of glycolytic process TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006409 tRNA export from nucleus TAS --
GO:0006999 nuclear pore organization IMP 15146057
GO:0007049 cell cycle 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

mRNA/cDNA for SEH1L Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for SEH1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for SEH1L Gene



Protein tissue co-expression partners for SEH1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEH1L

SOURCE GeneReport for Unigene cluster for SEH1L Gene:

Hs.301048

Evidence on tissue expression from TISSUES for SEH1L Gene

  • Liver(4.3)
  • Muscle(4.3)
  • Adrenal gland(4.2)
  • Eye(4.2)
  • Nervous system(3.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with SEH1L: view

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 29 30
  • 99.29 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SEH1L 30
  • 96 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 95 (a)
OneToMany
-- 30
  • 81 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia SEH1L 29 30
  • 94.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SEH1L 29 30
  • 91.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100911798 29
  • 89.68 (n)
Mouse
(Mus musculus)
Mammalia Seh1l 29 16 30
  • 89.36 (n)
OneToOne
Chicken
(Gallus gallus)
Aves SEH1L 29 30
  • 85.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEH1L 30
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia seh1l 29
  • 78.46 (n)
Str.2999 29
Zebrafish
(Danio rerio)
Actinopterygii seh1l 29 30
  • 73.24 (n)
OneToOne
-- 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005174 29
  • 59.52 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Nup44A 29 30
  • 57.36 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea npp-18 29 30
  • 52.67 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEH1 29 30 32
  • 50.79 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06754g 29
  • 49.33 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL038C 29
  • 46.03 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2368 30
  • 58 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes seh1 29
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SEH1L: view image
Alliance of Genome Resources:
Additional Orthologs for SEH1L

Paralogs for SEH1L Gene

Paralogs for SEH1L Gene

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

  • SEH1_HUMAN
  • K7ELV2_HUMAN
  • K7ENI5_HUMAN
  • K7EP88_HUMAN
  • K7EPZ5_HUMAN
genes like me logo Genes that share paralogs with SEH1L: view

Variants for SEH1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEH1L Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs142041554 Benign: not provided 12,971,216(+) C/T
NM_001013437.2(SEH1L):c.585C>T (p.Ala195=)
SYNONYMOUS
rs374718956 Uncertain Significance: Reduced number of teeth 12,971,181(+) G/A
NM_001013437.2(SEH1L):c.550G>A (p.Val184Ile)
MISSENSE
rs6505776 -- p.Thr342Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEH1L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
SEH1L

SNP Genotyping and Copy Number Assays for research

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

Disorders for SEH1L Gene

MalaCards: The human disease database

(4) MalaCards diseases for SEH1L Gene - From: COP

- 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
  2. Proteomic analysis of the mammalian nuclear pore complex. (PMID: 12196509) Cronshaw JM … Matunis MJ (The Journal of cell biology 2002) 2 3 4
  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
  4. The CASTOR Proteins Are Arginine Sensors for the mTORC1 Pathway. (PMID: 26972053) Chantranupong L … Sabatini DM (Cell 2016) 3 4
  5. Sestrins inhibit mTORC1 kinase activation through the GATOR complex. (PMID: 25457612) Parmigiani A … Budanov AV (Cell reports 2014) 3 4

Products for SEH1L Gene

Sources for SEH1L Gene