Sel1l sel-1 suppressor of lin-12-like (C. elegans) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sel1lprovided by MGI
Official Full Name: sel-1 suppressor of lin-12-like (C. elegans)provided by MGI
Primary source: MGI:MGI:1329016
See related: Ensembl:ENSMUSG00000020964 AllianceGenome:MGI:1329016
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: Sel1h; mKIAA4137
Summary: Predicted to contribute to ubiquitin-protein transferase activity. Involved in ERAD pathway; protein secretion; and triglyceride metabolic process. Acts upstream of or within response to endoplasmic reticulum stress. Predicted to be located in endoplasmic reticulum. Predicted to be part of Derlin-1 retrotranslocation complex and Hrd1p ubiquitin ligase ERAD-L complex. Is expressed in several structures, including genitourinary system; liver; neural tube; pancreas; and spleen. Human ortholog(s) of this gene implicated in pancreatic cancer. Orthologous to human SEL1L (SEL1L adaptor subunit of ERAD E3 ubiquitin ligase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 18.7), cortex adult (RPKM 16.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 D3; 12 45.02 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (91772817..91815931, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (91806043..91849157, complement)

Chromosome 12 - NC_000078.7 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?

SEL1L-HRD1 interaction is required to form a functional HRD1 ERAD complex.
Title: SEL1L-HRD1 interaction is required to form a functional HRD1 ERAD complex.
SEL1L preserves CD8[+] T-cell survival and homeostasis by fine-tuning PERK signaling and the IL-15 receptor-mediated mTORC1 axis.
Title: SEL1L preserves CD8(+) T-cell survival and homeostasis by fine-tuning PERK signaling and the IL-15 receptor-mediated mTORC1 axis.
Sel1L-Hrd1 ER-associated degradation maintains beta cell identity via TGF-beta signaling.
Title: Sel1L-Hrd1 ER-associated degradation maintains β cell identity via TGF-β signaling.
This study not only establishes the importance of Sel1L-Hrd1 ERAD in the liver in the regulation of systemic energy metabolism, but also reveals a novel hepatic "ERAD-Crebh-Fgf21" axis directly linking ER protein turnover to gene transcription and systemic metabolic regulation.
Title: Hepatic Sel1L-Hrd1 ER-associated degradation (ERAD) manages FGF21 levels and systemic metabolism via CREBH.
he drastic phenotypic characteristics exhibited in mSEL-1L null mice can, in part, be explained by the negative influence it plays on Notch1 signaling pathway.
Title: mSEL-1L deficiency affects vasculogenesis and neural stem cell lineage commitment.
This study implicates Endoplasmic reticulum (ER)-associated degradation mediated by Sel1L-Hrd1 as a key regulator of B cell development.
Title: The Sel1L-Hrd1 Endoplasmic Reticulum-Associated Degradation Complex Manages a Key Checkpoint in B Cell Development.
Mice deficient for ERAD machinery component Sel1L develop central diabetes insipidus
Title: Mice deficient for ERAD machinery component Sel1L develop central diabetes insipidus.
significant determinant of serum bile acid concentration
Title: Genome-wide association study in mice identifies loci affecting liver-related phenotypes including Sel1l influencing serum bile acids.
The authors propose that certain Sel1-Like Repeat motifs of SEL1L play a unique role in membrane bound ERAD machinery.
Title: Crystal structure of SEL1L: Insight into the roles of SLR motifs in ERAD pathway.
Sel1L-Hrd1 plays a constitutive role in endoplasmic reticulum associated degradation in epithelial cell biology and the pathogenesis of intestinal inflammation in Crohn's disease.
Title: Epithelial Sel1L is required for the maintenance of intestinal homeostasis.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

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

Targeted (3) 1 citation
Gene trapped (1)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12Mit259 (e-PCR), detects polymorphism
- UniSTS:126818

AW493766 (e-PCR)
- UniSTS:180439

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ERAD pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to endoplasmic reticulum stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde protein transport, ER to cytosol	ISO Inferred from Sequence Orthology more info
involved_in triglyceride metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Derlin-1 retrotranslocation complex	ISO Inferred from Sequence Orthology more info
part_of Hrd1p ubiquitin ligase ERAD-L complex	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein sel-1 homolog 1

Names: Sel1 (suppressor of lin-12) 1 homolog; sel-1L; suppressor of lin-12-like protein 1

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_001039089.1 → NP_001034178.1 protein sel-1 homolog 1 isoform a precursor

See identical proteins and their annotated locations for NP_001034178.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AC157658, AK220502

Consensus CDS

CCDS26091.1

UniProtKB/Swiss-Prot

Q9DBD8, Q9Z2G6

UniProtKB/TrEMBL

Q5DTL8

Related

ENSMUSP00000021347.6, ENSMUST00000021347.12

Conserved Domains (4) summary

smart00059
Location:116 → 164

FN2; Fibronectin type 2 domain

smart00671
Location:479 → 514

SEL1; Sel1-like repeats

COG0790
Location:183 → 449

TPR; TPR repeat [Signal transduction mechanisms]

sd00010
Location:389 → 418

SLR; SLR repeat [structural motif]
NM_011344.2 → NP_035474.1 protein sel-1 homolog 1 isoform b precursor

See identical proteins and their annotated locations for NP_035474.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has an alternate splice site in the coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a.

Source sequence(s)

AC157658, AK160936, AK220502

Consensus CDS

CCDS49137.1

UniProtKB/TrEMBL

J3QJX3, Q6GTY4

Related

ENSMUSP00000129384.2, ENSMUST00000167466.2

Conserved Domains (3) summary

smart00671
Location:429 → 464

SEL1; Sel1-like repeats

COG0790
Location:133 → 464

TPR; TPR repeat [Signal transduction mechanisms]

sd00010
Location:339 → 368

SLR; SLR repeat [structural motif]