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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
  • Protein Sel-1 Homolog 1 3
  • SEL1-LIKE 3
  • PRO1063 3
  • SEL1L1 3
  • Sel-1L 4
  • TSA305 4

External Ids for SEL1L Gene

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. Among its related pathways are Signaling by GPCR and Signaling by NOTCH1 PEST Domain Mutants in Cancer. 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

Genomic Location for SEL1L Gene

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

Regulatory Elements 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

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

Other Protein References for SEL1L Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SEL1L Gene

Domains for SEL1L Gene

Suggested Antigen Peptide Sequences for SEL1L Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBV2

UniProtKB/Swiss-Prot:

SE1L1_HUMAN
Domain:
  • Contains 1 fibronectin type-II domain.:
    • Q9UBV2
Family:
  • Belongs to the sel-1 family.:
    • Q9UBV2
Similarity:
  • Contains 11 Sel1-like repeats.:
    • Q9UBV2
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

miRNA for SEL1L Gene

miRTarBase miRNAs that target SEL1L

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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:0000836 Hrd1p ubiquitin ligase complex TAS 23710284
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SEL1L: view

Pathways 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:0007219 Notch signaling pathway IEA --
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process TAS 22013210
GO:0034976 response to endoplasmic reticulum stress IEA --
GO:0050821 protein stabilization TAS 23710284
genes like me logo Genes that share ontologies with SEL1L: view

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 (9.5).

Integrated Proteomics: protein expression 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 expressions with SEL1L: view

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 35
  • 99.62 (n)
  • 99.87 (a)
SEL1L 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia SEL1L 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sel1l 35
  • 87.18 (n)
  • 93.44 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.1442 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sel1l 35
  • 74.47 (n)
  • 83.26 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.15492 35
sel1l 35
  • 72.53 (n)
  • 81.5 (a)
sel1l 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000615 35
  • 57.48 (n)
  • 57.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta Hrd3 35
  • 56.38 (n)
  • 53.22 (a)
Hrd3 36
  • 39 (a)
OneToMany
BcDNA:LD23587 37
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea sel-1 35
  • 54.25 (n)
  • 48.7 (a)
sel-1 36
  • 43 (a)
OneToMany
sel-1 37
  • 46 (a)
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

Selected 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

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

(2) University of Copenhagen DISEASES for SEL1L Gene

(10) Novoseek inferred disease relationships for SEL1L Gene

Disease -log(P) Hits PubMed IDs
aggressive behavior 36.9 2
pancreatic cancer 33.5 4
graves disease 33 1
aggressiveness 32.6 3
breast carcinoma 30.5 6

Relevant External Links for SEL1L

Genetic Association Database (GAD)
SEL1L
Human Genome Epidemiology (HuGE) Navigator
SEL1L
genes like me logo Genes that share disorders with SEL1L: view

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

Publications for SEL1L Gene

  1. Complete cDNA sequence and genomic organization of a human pancreas- specific gene homologous to Caenorhabditis elegans sel-1. (PMID: 10496078) Harada Y. … Tanigami A. (J. Hum. Genet. 1999) 3 4 23
  2. SEL1L, the human homolog of C. elegans sel-1: refined physical mapping, gene structure and identification of polymorphic markers. (PMID: 10746565) Biunno I. … Zollo M. (Hum. Genet. 2000) 3 4 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. SEL1L microsatellite polymorphism in Japanese patients with autoimmune thyroid diseases. (PMID: 11349831) Ban Y. … Ban Y. (Thyroid 2001) 3 23 48
  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 23 48

Products for SEL1L Gene

Sources for SEL1L Gene

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