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Aliases for SEL1L Gene

Aliases for SEL1L Gene

  • SEL1L ERAD E3 Ligase Adaptor Subunit 2 3
  • Sel-1 Suppressor Of Lin-12-Like (C. Elegans) 2 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 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. Among its related pathways are Protein processing in endoplasmic reticulum and Transport to the Golgi and subsequent modification. An important paralog of this gene is SEL1L3.

UniProtKB/Swiss-Prot for SEL1L Gene

  • May play a role in Notch signaling (By similarity). May be involved in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins.

Gene Wiki entry for SEL1L Gene

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around SEL1L on UCSC Golden Path with GeneCards custom track

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:
    • Part of a complex containing SEL1L, SYVN1 and DERL2. May form a complex with ERLEC1, HSPA5, OS9, and SYVN1. Interacts with FOXRED2 and EDEM1.

    Alternative splice isoforms for SEL1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEL1L Gene

Proteomics data for SEL1L Gene at MOPED

Post-translational modifications for SEL1L Gene

Other Protein References for SEL1L Gene

Antibody Products

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 :
  • Contains 1 fibronectin type-II domain.
  • Belongs to the sel-1 family.
  • Contains 11 Sel1-like repeats.
Domain:
  • Contains 1 fibronectin type-II domain.
Family:
  • Belongs to the sel-1 family.
Similarity:
  • Contains 11 Sel1-like repeats.
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:
May play a role in Notch signaling (By similarity). May be involved in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for SEL1L Gene COMPARTMENTS Subcellular localization image for SEL1L gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 2
extracellular 1
golgi apparatus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SEL1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044322 endoplasmic reticulum quality control compartment TAS --
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

Pathways by source for SEL1L Gene

Gene Ontology (GO) - Biological Process for SEL1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0034976 response to endoplasmic reticulum stress IEA --
GO:0036503 ERAD pathway IMP 21454652
GO:0043687 post-translational protein modification TAS --
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:

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 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, MOPED, and MaxQB for SEL1L Gene



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.
genes like me logo Genes that share expression patterns with SEL1L: view

Protein tissue co-expression partners for SEL1L Gene

Primer Products

In Situ Assay Products

Orthologs for SEL1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SEL1L Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SEL1L 35
  • 88.82 (n)
  • 95.58 (a)
SEL1L 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SEL1L 35
  • 92.41 (n)
  • 97.92 (a)
SEL1L 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sel1l 35
  • 88.11 (n)
  • 94.16 (a)
Sel1l 16
Sel1l 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SEL1L 35
  • 99.62 (n)
  • 99.87 (a)
SEL1L 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sel1l 35
  • 87.18 (n)
  • 93.44 (a)
oppossum
(Monodelphis domestica)
Mammalia SEL1L 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
chicken
(Gallus gallus)
Aves SEL1L 35
  • 77.36 (n)
  • 83.38 (a)
SEL1L 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEL1L 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sel1l 35
  • 74.47 (n)
  • 83.26 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1442 35
zebrafish
(Danio rerio)
Actinopterygii Dr.15492 35
sel1l 35
  • 72.53 (n)
  • 81.5 (a)
sel1l 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:LD23587 37
  • 51 (a)
Hrd3 35
  • 56.38 (n)
  • 53.22 (a)
Hrd3 36
  • 39 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000615 35
  • 57.48 (n)
  • 57.89 (a)
worm
(Caenorhabditis elegans)
Secernentea sel-1 37
  • 46 (a)
sel-1 35
  • 54.25 (n)
  • 48.7 (a)
sel-1 36
  • 43 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRD3 36
  • 18 (a)
OneToMany
HRD3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G73570 35
  • 47.41 (n)
  • 39.32 (a)
rice
(Oryza sativa)
Liliopsida Os.47319 35
Os03g0259300 35
  • 46.81 (n)
  • 37.05 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2783 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5716 36
  • 55 (a)
OneToMany
Species with no ortholog for SEL1L:
  • 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
rs11499034 - 81,506,097(-) AGCAG(A/G)TGAAA reference, missense
rs1051193 - 81,479,647(-) TGGGC(A/G)TCGTC reference, missense
rs12279 -- 81,473,408(+) CAATG(A/T)ATACC utr-variant-3-prime
rs15099 -- 81,473,467(+) TTTAA(C/T)TTATA utr-variant-3-prime
rs7141255 -- 81,486,970(+) TCTTT(C/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SEL1L Gene

Variant ID Type Subtype PubMed ID
nsv902120 CNV Gain 21882294

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

HapMap Linkage Disequilibrium report
SEL1L
Human Gene Mutation Database (HGMD)
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 Novoseek

Disorder Aliases PubMed IDs
good syndrome
  • thymoma with hypogammaglobulinemia
diabetes mellitus, insulin-dependent
  • diabetes, type 1
- 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. No evidence for SEL1L as a candidate gene for IDDM11-conferred susceptibility. (PMID: 11544613) Pociot F. … Cucca F. (Diabetes Metab. Res. Rev. 2001) 3 23 48 67
  2. SEL1L a multifaceted protein playing a role in tumor progression. (PMID: 16331677) Biunno I. … MAcnard S. (J. Cell. Physiol. 2006) 2 3 23
  3. Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas. (PMID: 9417916) Biunno I. … Sgaramella V. (Genomics 1997) 2 3 23
  4. Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner. (PMID: 18811591) Oresic K. … Tortorella D. (Biosci. Rep. 2009) 3 23
  5. Functional characterization of two secreted SEL1L isoforms capable of exporting unassembled substrate. (PMID: 19204006) Cattaneo M. … Biunno I. (J. Biol. Chem. 2009) 3 23

Products for SEL1L Gene

Sources for SEL1L Gene

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