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Aliases for SEL1L Gene

Aliases for SEL1L Gene

  • SEL1L ERAD E3 Ligase Adaptor Subunit 2 3 5
  • Suppressor Of Lin-12-Like Protein 1 3 4
  • 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
  • Protein Sel-1 Homolog 1 3
  • SEL1-LIKE 3
  • PRO1063 3
  • SEL1L1 3
  • Sel-1L 4
  • TSA305 4

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 ERAD E3 Ligase Adaptor Subunit) is a Protein Coding gene. Diseases associated with SEL1L include Good Syndrome and Diabetes Mellitus, Insulin-Dependent, 11. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Pre-NOTCH Expression and Processing. An important paralog of this gene is SEL1L2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SEL1L Gene

Genomics for SEL1L Gene

Regulatory Elements for SEL1L Gene

Enhancers for SEL1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G081532 1.4 FANTOM5 ENCODE 9.1 -0.9 -932 4.3 HDGF PKNOX1 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF766 GTF2A1 SEL1L LINC01467
GH14G081473 1.1 Ensembl ENCODE dbSUPER 10.8 +59.4 59401 2.4 TBP PKNOX1 SMARCA4 NBN JUNB EBF1 PRDM1 TBX21 EZH2 GTF2A1 SEL1L SNORA79 CEP128 LINC02308
GH14G081516 1.2 Ensembl ENCODE 9.7 +15.4 15351 4.4 FOXA2 YY1 TCF12 MIER2 PPARG KAT8 NFIL3 SMARCA4 RCOR2 HNF4A SEL1L LINC02308
GH14G081477 0.5 dbSUPER 19.2 +54.6 54551 3.3 MTA2 SMARCA4 CREB1 EP300 ATF2 SEL1L LINC02308
GH14G081560 0.5 ENCODE 8.3 -27.5 -27463 1.3 TEAD4 CHD7 FOXA1 SEL1L LINC01467
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SEL1L on UCSC Golden Path with GeneCards custom track

Promoters for SEL1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000071450 261 2001 HDGF PKNOX1 CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF766

Genomic Location for SEL1L Gene

Chromosome:
14
Start:
81,471,547 bp from pter
End:
81,533,861 bp from pter
Size:
62,315 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). Interacts with SYVN1; the interaction is direct (PubMed:26471130). Part of a complex containing SEL1L, SYVN1 and DERL2 (PubMed:16186509). 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).

    Alternative splice isoforms for SEL1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEL1L Gene

Post-translational modifications for SEL1L Gene

  • N-glycosylated.
  • Ubiquitination at Lys681
  • Glycosylation at isoforms=250, Asn195, isoforms=2217, isoforms=2272, Asn431, and isoforms=608
  • Modification sites at PhosphoSitePlus

Other Protein References for SEL1L Gene

No data available for DME Specific Peptides for SEL1L Gene

Domains & Families for SEL1L Gene

Suggested Antigen Peptide Sequences for SEL1L Gene

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

No data available for Gene Families for SEL1L Gene

Function for SEL1L Gene

Molecular function for SEL1L Gene

GENATLAS Biochemistry:
sel-1 (suppressor of lin-12,C elegans)-like,negative regulator of the NOTCH pathway, specifically expressed in pancreas
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.

Gene Ontology (GO) - Molecular Function for SEL1L Gene

GO ID Qualified GO term Evidence PubMed IDs
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for SEL1L

CRISPR Products

Inhibitory RNA Products

Clone Products

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
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
golgi apparatus 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

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:0030433 ER-associated ubiquitin-dependent protein catabolic process TAS 22013210
GO:0030970 retrograde protein transport, ER to cytosol IMP 25660456
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

Unigene Clusters for SEL1L Gene

Sel-1 suppressor of lin-12-like (C. elegans):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
SEL1L

Expression for SEL1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SEL1L Gene



Protein tissue co-expression partners for SEL1L Gene

NURSA nuclear receptor signaling pathways regulating expression of SEL1L Gene:

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(4.4)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with SEL1L: view

Primer Products

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 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia SEL1L 34 35
  • 92.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 92 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SEL1L 34 35
  • 88.82 (n)
mouse
(Mus musculus)
Mammalia Sel1l 34 16 35
  • 88.11 (n)
rat
(Rattus norvegicus)
Mammalia Sel1l 34
  • 87.18 (n)
oppossum
(Monodelphis domestica)
Mammalia SEL1L 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves SEL1L 34 35
  • 77.36 (n)
lizard
(Anolis carolinensis)
Reptilia SEL1L 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sel1l 34
  • 74.47 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1442 34
zebrafish
(Danio rerio)
Actinopterygii sel1l 34 35
  • 72.53 (n)
Dr.15492 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000615 34
  • 57.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hrd3 34 35
  • 56.38 (n)
BcDNA:LD23587 36
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea sel-1 36 34 35
  • 54.25 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRD3 35 37
  • 18 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G73570 34
  • 47.41 (n)
rice
(Oryza sativa)
Liliopsida Os03g0259300 34
  • 46.81 (n)
Os.47319 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5716 35
  • 55 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2783 34
Species where no ortholog for SEL1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for SEL1L Gene

Paralogs for SEL1L Gene

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

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

Variants for SEL1L Gene

Sequence variations from dbSNP and Humsavar for SEL1L Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000098970 -- 81,472,925(+) TAACC(A/G)GAGGT utr-variant-3-prime
rs1000194004 -- 81,486,894(+) AGAGA(A/G)CTAAG intron-variant
rs1000373395 -- 81,493,637(+) CTTCA(C/G)AGCCA intron-variant
rs1000377235 -- 81,532,920(+) TCAAA(C/T)GTAGG intron-variant
rs1000379786 -- 81,519,158(+) TGGAA(A/G)ACATT intron-variant

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)

Relevant External Links for SEL1L Gene

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

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

Disorders for SEL1L Gene

MalaCards: The human disease database

(2) MalaCards diseases for SEL1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
good syndrome
  • thymoma with hypogammaglobulinemia
diabetes mellitus, insulin-dependent, 11
  • type 1 diabetes mellitus 11
- elite association - COSMIC cancer census association via MalaCards
Search SEL1L in MalaCards View complete list of genes associated with diseases

Relevant External Links for SEL1L

Genetic Association Database (GAD)
SEL1L
Human Genome Epidemiology (HuGE) Navigator
SEL1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SEL1L
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 J.C. … Kopito R.R. (Nat. Cell Biol. 2008) 3 4 22 64
  2. SEL1L a multifaceted protein playing a role in tumor progression. (PMID: 16331677) Biunno I. … MAcnard S. (J. Cell. Physiol. 2006) 2 3 22 64
  3. Allele frequency of two intragenic microsatellite loci of SEL1L gene in Northern Italian population. (PMID: 12030374) Chiaramonte R. … Sherbet G.V. (Mol. Cell. Biochem. 2002) 3 22 46 64
  4. SEL1L microsatellite polymorphism in Japanese patients with autoimmune thyroid diseases. (PMID: 11349831) Ban Y. … Ban Y. (Thyroid 2001) 3 22 46 64
  5. No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibility. (PMID: 11544613) Pociot F. … Cucca F. (Diabetes Metab. Res. Rev. 2001) 3 22 46 64

Products for SEL1L Gene

Sources for SEL1L Gene

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