The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by Ref... See more...

Aliases for SEL1L Gene

Aliases for SEL1L Gene

  • SEL1L Adaptor Subunit Of ERAD E3 Ubiquitin Ligase 2 3 5
  • SEL1L, ERAD E3 Ligase Adaptor Subunit 2 3
  • Suppressor Of Lin-12-Like Protein 1 3 4
  • Protein Sel-1 Homolog 1 3 4
  • SEL1L1 2 3
  • Hrd3 2 3
  • Suppressor Of Lin 12 (Sel-1), C. Elegans, Homolog Of 3
  • Sel-1 Suppressor Of Lin-12-Like 1 (C. Elegans) 2
  • Sel-1 Suppressor Of Lin-12-Like (C. Elegans) 2
  • Sel-1 Suppressor Of Lin-12-Like 1 3
  • SEL1-LIKE 3
  • PRO1063 3
  • TSA305 4
  • Sel-1L 4
  • SEL1L 5
  • IBD2 2

External Ids for SEL1L Gene

Previous GeneCards Identifiers for SEL1L Gene

  • GC14M079443
  • GC14M075754
  • GC14M079927
  • GC14M081007
  • GC14M081937
  • GC14M062108

Summaries for SEL1L Gene

Entrez Gene Summary for SEL1L Gene

  • The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for SEL1L Gene

SEL1L (SEL1L Adaptor Subunit Of ERAD E3 Ubiquitin Ligase) is a Protein Coding gene. Diseases associated with SEL1L include Granular Corneal Dystrophy and Type 1 Diabetes Mellitus 11. Among its related pathways are Pre-NOTCH Expression and Processing and Calnexin/calreticulin cycle. An important paralog of this gene is SEL1L2.

UniProtKB/Swiss-Prot Summary for SEL1L Gene

  • Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:16186509). Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling.

Gene Wiki entry for SEL1L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEL1L Gene

Genomics for SEL1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SEL1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J081532 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 259 -0.6 -610 4.9 BCLAF1 SP1 SIX5 SSRP1 ZNF592 POLR2A ATF3 JUND CHD4 YY1 SEL1L HSALNG0102804 NONHSAG015604.2
GH14J081511 Enhancer 0.8 Ensembl ENCODE 21.1 +22.5 22452 6 CEBPA ZNF10 YY1 MAFF RXRA TCF7L2 JUND HNF4A FOXA1 ZBTB33 HSALNG0102803 piR-38426-007 SEL1L STON2
GH14J081516 Enhancer 0.8 ENCODE 9.7 +15.3 15342 4.4 NCOR1 CEBPA JUND YY1 THAP11 GABPA FOXA2 KDM6A SMAD4 RXRA SEL1L piR-38426-007 HSALNG0102804 STON2
GH14J081473 Enhancer 0.7 ENCODE dbSUPER 10.8 +59.4 59392 2.4 BCLAF1 EBF1 ATF2 JUNB PKNOX1 NBN RUNX3 PRDM1 GTF2A1 SEL1L SNORA79 CEP128 HSALNG0102801 piR-55655-166 STON2
GH14J081560 Enhancer 0.6 Ensembl ENCODE 8.3 -27.5 -27470 1.3 FOXA1 SP1 NANOG SEL1L NONHSAG015604.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEL1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEL1L

Top Transcription factor binding sites by QIAGEN in the SEL1L gene promoter:
  • AREB6
  • CBF-A
  • CBF-B
  • E2F
  • E2F-1
  • FOXF2
  • Hlf
  • LCR-F1
  • Nkx2-2

Genomic Locations for SEL1L Gene

Latest Assembly
chr14:81,471,547-81,533,853
(GRCh38/hg38)
Size:
62,307 bases
Orientation:
Minus strand

Previous Assembly
chr14:81,937,891-82,000,197
(GRCh37/hg19 by Entrez Gene)
Size:
62,307 bases
Orientation:
Minus strand

chr14:81,937,893-82,000,205
(GRCh37/hg19 by Ensembl)
Size:
62,313 bases
Orientation:
Minus strand

Genomic View for SEL1L Gene

Genes around SEL1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEL1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEL1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEL1L Gene

Proteins for SEL1L Gene

  • Protein details for SEL1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBV2-SE1L1_HUMAN
    Recommended name:
    Protein sel-1 homolog 1
    Protein Accession:
    Q9UBV2
    Secondary Accessions:
    • Q6UWT6
    • Q9P1T9
    • Q9UHK7

    Protein attributes for SEL1L Gene

    Size:
    794 amino acids
    Molecular mass:
    88755 Da
    Quaternary structure:
    • Homodimer and homooligomer (By similarity). May form a complex with ERLEC1, HSPA5, OS9, and SYVN1 (PubMed:18502753, PubMed:18264092). Interacts with FOXRED2 and EDEM1 (PubMed:19524542, PubMed:19706418). Interacts with LPL (PubMed:25066055). Interacts with LMF1; may stabilize the complex formed by LPL and LMF1 and thereby promote the export of LPL dimers (By similarity). Component of the HRD1 complex, which comprises at least SYNV1/HRD1, DERL1/2, FAM8A1, HERPUD1/HERP, OS9, SEL1L and UBE2J1 (PubMed:16186509, PubMed:28827405). SYNV1 assembles with SEL1L and FAM8A1 through its transmembrane domains, but interaction with its cytoplasmic domain is required to confer stability to FAM8A1 and enhance recruitment of HERPUD1 (PubMed:28827405). The interaction with SYNV1/HRD1 is direct (PubMed:26471130).

    Alternative splice isoforms for SEL1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEL1L Gene

Post-translational modifications for SEL1L Gene

  • N-glycosylated.
  • Glycosylation at Thr37, Thr38, Ser41, Ser44, Thr49, Thr50, Asn195, Asn217, Asn272, Asn431, and Asn608
  • Ubiquitination at Lys681
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SE1L1_HUMAN (1669)

Other Protein References for SEL1L Gene

No data available for DME Specific Peptides for SEL1L Gene

Domains & Families for SEL1L Gene

Gene Families for SEL1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SEL1L Gene

InterPro:
Blocks:
  • Type II fibronectin collagen-binding domain
  • Sel1-like repeat

Suggested Antigen Peptide Sequences for SEL1L Gene

GenScript: Design optimal peptide antigens:
  • Sel-1-like protein (Q12916_HUMAN)
  • SEL1L protein (Q3ZCU6_HUMAN)
  • Suppressor of lin-12-like protein 1 (SE1L1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBV2

UniProtKB/Swiss-Prot:

SE1L1_HUMAN :
  • Belongs to the sel-1 family.
Family:
  • Belongs to the sel-1 family.
genes like me logo Genes that share domains with SEL1L: view

Function for SEL1L Gene

Molecular function for SEL1L Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:16186509). Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling.
GENATLAS Biochemistry:
sel-1 (suppressor of lin-12,C elegans)-like,negative regulator of the NOTCH pathway, specifically expressed in pancreas

Phenotypes From GWAS Catalog for SEL1L Gene

Gene Ontology (GO) - Molecular Function for SEL1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA 21873635
GO:0005515 protein binding IPI 18264092
genes like me logo Genes that share ontologies with SEL1L: view
genes like me logo Genes that share phenotypes with SEL1L: view

Animal Models for SEL1L Gene

MGI Knock Outs for SEL1L:
  • Sel1l Sel1l<tm1e(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for SEL1L

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEL1L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEL1L Gene

Localization for SEL1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEL1L Gene

Endoplasmic reticulum membrane. Single-pass type I membrane protein.

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 SEL1L gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
nucleus 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SEL1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000836 Hrd1p ubiquitin ligase complex TAS 21454652
GO:0000839 Hrd1p ubiquitin ligase ERAD-L complex IMP 26471130
GO:0005783 endoplasmic reticulum IEA,IDA 26471130
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SEL1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SEL1L Gene

Pathways & Interactions for SEL1L Gene

genes like me logo Genes that share pathways with SEL1L: view

Gene Ontology (GO) - Biological Process for SEL1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006641 triglyceride metabolic process ISS --
GO:0007219 Notch signaling pathway IEA --
GO:0009306 protein secretion ISS --
GO:0016567 protein ubiquitination IEA --
GO:0030433 ubiquitin-dependent ERAD pathway TAS 22013210
genes like me logo Genes that share ontologies with SEL1L: view

No data available for SIGNOR curated interactions for SEL1L Gene

Drugs & Compounds for SEL1L Gene

No Compound Related Data Available

Transcripts for SEL1L Gene

mRNA/cDNA for SEL1L Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 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 SEL1L

Alternative Splicing Database (ASD) splice patterns (SP) for SEL1L Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a ·
SP1: - - - - -
SP2:
SP3:
SP4: -
SP5:
SP6:

ExUns: 19b ^ 20
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for SEL1L Gene

GeneLoc Exon Structure for
SEL1L

Expression for SEL1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SEL1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SEL1L Gene

This gene is overexpressed in Pancreas (x9.5).

Protein differential expression in normal tissues from HIPED for SEL1L Gene

This gene is overexpressed in Placenta (9.5) and Breast (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEL1L Gene



Protein tissue co-expression partners for SEL1L Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEL1L

SOURCE GeneReport for Unigene cluster for SEL1L Gene:

Hs.181300

mRNA Expression by UniProt/SwissProt for SEL1L Gene:

Q9UBV2-SE1L1_HUMAN
Tissue specificity: Highly expressed in pancreas.

Evidence on tissue expression from TISSUES for SEL1L Gene

  • Pancreas(4.6)
  • Liver(4.6)
  • Nervous system(3)
  • Kidney(2.5)
  • Spleen(2.3)
  • Lung(2.3)
  • Intestine(2.2)
  • Thyroid gland(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with SEL1L: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SEL1L Gene

Orthologs for SEL1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SEL1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SEL1L 29 30
  • 99.62 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SEL1L 29 30
  • 92.41 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 92 (a)
OneToMany
-- 30
  • 59 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia SEL1L 29 30
  • 88.82 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sel1l 29 16 30
  • 88.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sel1l 29
  • 87.18 (n)
Oppossum
(Monodelphis domestica)
Mammalia SEL1L 30
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SEL1L 29 30
  • 77.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SEL1L 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sel1l 29
  • 74.47 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1442 29
Zebrafish
(Danio rerio)
Actinopterygii sel1l 29 30
  • 72.53 (n)
OneToOne
Dr.15492 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000615 29
  • 57.48 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Hrd3 29 30
  • 56.38 (n)
OneToMany
BcDNA:LD23587 31
  • 51 (a)
Worm
(Caenorhabditis elegans)
Secernentea sel-1 29 30 31
  • 54.25 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRD3 30 32
  • 18 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G73570 29
  • 47.41 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0259300 29
  • 46.81 (n)
Os.47319 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5716 30
  • 55 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2783 29
Species where no ortholog for SEL1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SEL1L Gene

ENSEMBL:
Gene Tree for SEL1L (if available)
TreeFam:
Gene Tree for SEL1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEL1L: view image
Alliance of Genome Resources:
Additional Orthologs for SEL1L

Paralogs for SEL1L Gene

Paralogs for SEL1L Gene

(1) SIMAP similar genes for SEL1L Gene using alignment to 5 proteins:

  • SE1L1_HUMAN
  • G3V3B3_HUMAN
  • L8E9A3_HUMAN
  • Q12916_HUMAN
  • Q3ZCU6_HUMAN
genes like me logo Genes that share paralogs with SEL1L: view

Variants for SEL1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEL1L Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs112850101 Benign: not provided 81,526,729(-) C/T
NM_005065.6(SEL1L):c.340+4G>A
INTRON
rs144178340 Benign: not provided 81,504,243(-) A/G
NM_005065.6(SEL1L):c.572T>C (p.Met191Thr)
MISSENSE
rs376763779 Likely Benign: not provided 81,504,248(-) A/C
NM_005065.6(SEL1L):c.567T>G (p.Thr189=)
SYNONYMOUS
rs577516454 Benign: not provided 81,504,209(-) T/C
NM_005065.6(SEL1L):c.606A>G (p.Gln202=)
SYNONYMOUS
rs1051193 -- p.Val714Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SEL1L 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 SEL1L Gene

Variant ID Type Subtype PubMed ID
esv3635076 CNV gain 21293372
nsv565299 CNV gain 21841781

Variation tolerance for SEL1L Gene

Residual Variation Intolerance Score: 9.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.78; 47.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEL1L Gene

Human Gene Mutation Database (HGMD)
SEL1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEL1L
Leiden Open Variation Database (LOVD)
SEL1L

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEL1L Gene

Disorders for SEL1L Gene

MalaCards: The human disease database

(5) MalaCards diseases for SEL1L Gene - From: COP and GCD

Disorder Aliases PubMed IDs
granular corneal dystrophy
  • granular corneal dystrophies
type 1 diabetes mellitus 11
  • t1d11
hyperinsulinemic hypoglycemia
  • islet cell hyperplasia
achromatopsia 4
  • achm4
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
- elite association - COSMIC cancer census association via MalaCards
Search SEL1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SEL1L

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SEL1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SEL1L Gene

Publications for SEL1L Gene

  1. OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD. (PMID: 18264092) Christianson JC … Kopito RR (Nature cell biology 2008) 3 4 22
  2. SEL1L a multifaceted protein playing a role in tumor progression. (PMID: 16331677) Biunno I … Ménard S (Journal of cellular physiology 2006) 2 3 22
  3. Allele frequency of two intragenic microsatellite loci of SEL1L gene in Northern Italian population. (PMID: 12030374) Chiaramonte R … Sherbet GV (Molecular and cellular biochemistry 2002) 3 22 40
  4. No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibility. (PMID: 11544613) Pociot F … Cucca F (Diabetes/metabolism research and reviews 2001) 3 22 40
  5. SEL1L microsatellite polymorphism in Japanese patients with autoimmune thyroid diseases. (PMID: 11349831) Ban Y … Ban Y (Thyroid : official journal of the American Thyroid Association 2001) 3 22 40

Products for SEL1L Gene

Sources for SEL1L Gene