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

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. 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, Apr 2022]
Expression: Ubiquitous expression in limb E14.5 (RPKM 14.5), placenta adult (RPKM 13.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nucleoporin Seh1 controls murine neocortical development via transcriptional repression of p21 in neural stem cells.
Title: Nucleoporin Seh1 controls murine neocortical development via transcriptional repression of p21 in neural stem cells.
Nucleoporin Seh1 maintains Schwann cell homeostasis by regulating genome stability and necroptosis.
Title: Nucleoporin Seh1 maintains Schwann cell homeostasis by regulating genome stability and necroptosis.
Results reveal that Seh1 is required for oligodendrocyte differentiation and myelination by promoting assembly of an Olig2-dependent transcription complex.
Title: Nucleoporin Seh1 Interacts with Olig2/Brd7 to Promote Oligodendrocyte Differentiation and Myelination.
Seh1l expression is associated with susceptibility to Staphylococcus aureus sepsis.
Title: Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analyses.

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Variation

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Alleles

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

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:237835

AW540070 (e-PCR)
- UniSTS:181142

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
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within 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	ISO Inferred from Sequence Orthology more info
involved_in cellular response to nutrient levels	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within chromosome segregation	IEA Inferred from Electronic Annotation 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
acts_upstream_of_or_within mRNA transport	IEA Inferred from Electronic Annotation more info
involved_in mitotic metaphase chromosome alignment	ISO Inferred from Sequence Orthology more info
involved_in nuclear pore organization	ISO Inferred from Sequence Orthology more info
involved_in nucleocytoplasmic transport	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within protein transport	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 Seh1-associated complex	IBA Inferred from Biological aspect of Ancestor more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, centromeric region	IEA Inferred from Electronic Annotation more info
colocalizes_with kinetochore	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation 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
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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)

NM_001039088.1 → NP_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:11 → 342

WD40; WD40 repeat [General function prediction only]

sd00039
Location:15 → 55

7WD40; WD40 repeat [structural motif]

cl02567
Location:11 → 306

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 ...
NM_001360934.1 → NP_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:15 → 55

7WD40; WD40 repeat [structural motif]

cl25539
Location:11 → 306

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 ...
NM_028112.2 → NP_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:11 → 342

WD40; WD40 repeat [General function prediction only]

sd00039
Location:15 → 55

7WD40; WD40 repeat [structural motif]

cl02567
Location:11 → 306

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 ...