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    Seh1l SEH1-like (S. cerevisiae [ Mus musculus (house mouse) ]

    Gene ID: 72124, updated on 9-Dec-2024

    Summary

    Official Symbol
    Seh1lprovided by MGI
    Official Full Name
    SEH1-like (S. cerevisiaeprovided by MGI
    Primary source
    MGI:MGI:1919374
    See related
    Ensembl:ENSMUSG00000079614 AllianceGenome:MGI:1919374
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Seh1; SEH1A; SEH1B; SEC13L; 2610007A16Rik
    Summary
    Predicted to enable structural molecule activity. Acts upstream of or within defense response to Gram-positive bacterium. Predicted to be located in lysosomal membrane and nuclear envelope. Predicted to be part of GATOR2 complex and nuclear pore outer ring. Predicted to colocalize with kinetochore. Orthologous to human SEH1L (SEH1 like nucleoporin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 14.5), placenta adult (RPKM 13.6) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Seh1l in Genome Data Viewer
    Location:
    18 E1; 18 40.1 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (67907946..67928557)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (67774876..67795487)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase, non-receptor type 2 Neighboring gene STARR-positive B cell enhancer ABC_E11000 Neighboring gene STARR-positive B cell enhancer ABC_E8723 Neighboring gene STARR-seq mESC enhancer starr_44912 Neighboring gene RIKEN cDNA 4930549G23 gene Neighboring gene STARR-positive B cell enhancer ABC_E11001 Neighboring gene predicted gene, 46626 Neighboring gene predicted gene, 26910 Neighboring gene STARR-positive B cell enhancer ABC_E1518 Neighboring gene STARR-positive B cell enhancer ABC_E11662 Neighboring gene centrosomal protein 192 Neighboring gene STARR-seq mESC enhancer starr_44916 Neighboring gene STARR-seq mESC enhancer starr_44917 Neighboring gene tubulin, alpha 1B pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in attachment of mitotic spindle microtubules to kinetochore ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in attachment of mitotic spindle microtubules to kinetochore ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to amino acid starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to amino acid starvation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to amino acid starvation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to nutrient levels ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to nutrient levels ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within cytokine production involved in inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within defense response to Gram-positive bacterium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mRNA transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic metaphase chromosome alignment ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mitotic metaphase chromosome alignment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nuclear pore organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in nuclear pore organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in nucleocytoplasmic transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of TORC1 signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of TORC1 signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of TORC1 signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein-containing complex localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein-containing complex localization ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of GATOR2 complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of GATOR2 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of Seh1-associated complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with kinetochore ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with kinetochore ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
     
    part_of nuclear pore NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of nuclear pore outer ring IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of nuclear pore outer ring ISO
    Inferred from Sequence Orthology
    more info
     
    part_of nuclear pore outer ring ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    nucleoporin SEH1
    Names
    GATOR complex protein SEH1
    GATOR2 complex protein SEH1
    nup107-160 subcomplex subunit SEH1
    sec13-like protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001039088.1NP_001034177.1  nucleoporin SEH1 isoform a

      See identical proteins and their annotated locations for NP_001034177.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) includes an alternate penultimate exon, compared to variant 3, resulting in a novel 3' coding region and shorter 3' UTR. It encodes isoform a which has a distinct C-terminus, compared to isoform c.
      Source sequence(s)
      AC108434, AK169388, BY732540
      Consensus CDS
      CCDS50312.1
      UniProtKB/Swiss-Prot
      Q3TLC9, Q3UP79, Q8R2U0, Q9D0K7
      Related
      ENSMUSP00000025421.8, ENSMUST00000025421.9
      Conserved Domains (3) summary
      COG2319
      Location:11342
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:1555
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:11306
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. NM_001360934.1NP_001347863.1  nucleoporin SEH1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (c).
      Source sequence(s)
      AC108434, AC127236
      Conserved Domains (2) summary
      sd00039
      Location:1555
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:11306
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    3. NM_028112.2NP_082388.1  nucleoporin SEH1 isoform b

      See identical proteins and their annotated locations for NP_082388.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an alternate penultimate exon, compared to variant 3, resulting in a novel 3' coding region and longer 3' UTR. It encodes isoform b which has a distinct C-terminus, compared to isoform c.
      Source sequence(s)
      AK011330, BY732540
      Consensus CDS
      CCDS89269.1
      UniProtKB/Swiss-Prot
      Q8R2U0
      Related
      ENSMUSP00000157877.2, ENSMUST00000237700.2
      Conserved Domains (3) summary
      COG2319
      Location:11342
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:1555
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:11306
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      67907946..67928557
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)