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Aliases for SEL1L Gene

Aliases for SEL1L Gene

  • Sel-1 Suppressor Of Lin-12-Like (C. Elegans) 2 3
  • 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, C.Elegans)-Like 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 (Sel-1 Suppressor Of Lin-12-Like (C. Elegans)) is a Protein Coding gene. Diseases associated with SEL1L include good syndrome and diabetes mellitus, insulin-dependent. Among its related pathways are Signaling by GPCR and Downstream signaling events of B Cell Receptor (BCR). 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

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 Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SEL1L

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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 4
cytosol 2

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:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0036513 Derlin-1 retrotranslocation complex IDA 21454652
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SEL1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0007219 Notch signaling pathway IEA --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SEL1L

Flow Cytometry 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 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 MAF
rs12279 -- 81,473,408(+) CAATG(A/T)ATACC utr-variant-3-prime
rs15099 -- 81,473,467(+) TTTAA(C/T)TTATA utr-variant-3-prime
rs734099 -- 81,478,951(+) TCTTA(G/T)GGCTT intron-variant
rs812265 -- 81,474,301(+) CAAAA(G/T)GAATA utr-variant-3-prime
rs1051193 - 81,479,647(-) TGGGC(A/G)TCGTC missense, reference

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
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. SEL1L a multifaceted protein playing a role in tumor progression. (PMID: 16331677) Biunno I. … MAcnard S. (J. Cell. Physiol. 2006) 2 23 67
  2. 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 23 67
  3. Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner. (PMID: 18811591) Oresic K. … Tortorella D. (Biosci. Rep. 2009) 23 67
  4. Functional characterization of two secreted SEL1L isoforms capable of exporting unassembled substrate. (PMID: 19204006) Cattaneo M. … Biunno I. (J. Biol. Chem. 2009) 23 67
  5. TRAM1 participates in human cytomegalovirus US2- and US11-mediated dislocation of an endoplasmic reticulum membrane glycoprotein. (PMID: 19121997) Oresic K. … Tortorella D. (J. Biol. Chem. 2009) 23 67

Products for SEL1L Gene

Sources for SEL1L Gene

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