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Aliases for DERL3 Gene

Aliases for DERL3 Gene

  • Derlin 3 2 3 5
  • Degradation In Endoplasmic Reticulum Protein 3 3 4
  • Der1-Like Domain Family, Member 3 2 3
  • Der1-Like Protein 3 3 4
  • C22orf14 3 4
  • LLN2 3 4
  • Chromosome 22 Open Reading Frame 14 2
  • DERtrin 3 3
  • DERtrin-3 4
  • Derlin-3 3
  • IZP6 3
  • DER3 4

External Ids for DERL3 Gene

Previous HGNC Symbols for DERL3 Gene

  • C22orf14

Previous GeneCards Identifiers for DERL3 Gene

  • GC22M022504
  • GC22M024176
  • GC22M007164

Summaries for DERL3 Gene

Entrez Gene Summary for DERL3 Gene

  • The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for DERL3 Gene

DERL3 (Derlin 3) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Protein processing in endoplasmic reticulum. An important paralog of this gene is DERL2.

UniProtKB/Swiss-Prot for DERL3 Gene

  • Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded glycoproteins (PubMed:16449189, PubMed:22607976). May be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908).

Gene Wiki entry for DERL3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DERL3 Gene

Genomics for DERL3 Gene

Regulatory Elements for DERL3 Gene

Enhancers for DERL3 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
GH22G023843 1.8 FANTOM5 Ensembl ENCODE dbSUPER 40.1 -6.3 -6329 3.4 HDGF PKNOX1 TBL1XR1 ZNF493 RAD21 RARA ZNF121 EGR1 SCRT2 ZNF143 DERL3 ENSG00000272578 SMARCB1 VPREB3 GC22P023855
GH22G023815 1 dbSUPER 12.6 +24.1 24095 0.5 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF143 KLF7 KLF13 SMARCB1 DERL3 MMP11 CHCHD10 C22orf15 SLC2A11 ENSG00000251357 RN7SL268P MIF MIF-AS1
GH22G023814 0.8 dbSUPER 12.6 +24.9 24942 0.5 LEF1 BACH1 KMT2B ZIC2 HBP1 ZNF335 ARID3A CTBP1 ZFHX2 GATAD1 DERL3 SMARCB1 MMP11 CHCHD10 SLC2A11 ENSG00000251357 RN7SL268P MIF MIF-AS1 C22orf15
GH22G023821 1.2 FANTOM5 ENCODE dbSUPER 7.6 +14.3 14266 6.1 ZNF263 RFX1 KLF1 ZNF362 ZNF394 ZNF384 ZIC2 OSR2 POLR2A SMARCA4 SMARCB1 MMP11 CHCHD10 VPREB3 ZNF70 C22orf15 ENSG00000234353 DERL3 SLC2A11
GH22G023785 1.3 ENCODE dbSUPER 6.5 +52.3 52250 2.8 HDGF ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF143 ZNF207 KLF13 SP3 SMARCB1 CHCHD10 DERL3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DERL3 on UCSC Golden Path with GeneCards custom track

Promoters for DERL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000144302 13 1201 PKNOX1 ATF1 CREB3L1 AGO1 E2F7 SIN3A DMAP1 FEZF1 ZNF2 GLIS2

Genomic Location for DERL3 Gene

Chromosome:
22
Start:
23,834,503 bp from pter
End:
23,839,213 bp from pter
Size:
4,711 bases
Orientation:
Minus strand

Genomic View for DERL3 Gene

Genes around DERL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DERL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DERL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DERL3 Gene

Proteins for DERL3 Gene

  • Protein details for DERL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96Q80-DERL3_HUMAN
    Recommended name:
    Derlin-3
    Protein Accession:
    Q96Q80
    Secondary Accessions:
    • F2Z3B6
    • Q6ICJ6
    • Q6PEX0
    • Q6ZUB5

    Protein attributes for DERL3 Gene

    Size:
    235 amino acids
    Molecular mass:
    26679 Da
    Quaternary structure:
    • Forms homo- and heterooligomers with DERL2 and, to a lesser extent, with DERL1 (PubMed:16449189). Interacts with VCP and EDEM1 (PubMed:16449189). Interacts with SELENOK and SELENOS (PubMed:22016385). Interact with the signal recognition particle/SRP and the SRP receptor; in the process of endoplasmic reticulum stress-induced pre-emptive quality control (PubMed:26565908).

    Alternative splice isoforms for DERL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DERL3 Gene

Post-translational modifications for DERL3 Gene

No Post-translational modifications

No data available for DME Specific Peptides for DERL3 Gene

Domains & Families for DERL3 Gene

Gene Families for DERL3 Gene

Protein Domains for DERL3 Gene

Suggested Antigen Peptide Sequences for DERL3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96Q80

UniProtKB/Swiss-Prot:

DERL3_HUMAN :
  • Belongs to the derlin family.
Family:
  • Belongs to the derlin family.
genes like me logo Genes that share domains with DERL3: view

Function for DERL3 Gene

Molecular function for DERL3 Gene

UniProtKB/Swiss-Prot Function:
Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded glycoproteins (PubMed:16449189, PubMed:22607976). May be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908).
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded protein response (UPR).

Gene Ontology (GO) - Molecular Function for DERL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 16449189
genes like me logo Genes that share ontologies with DERL3: view
genes like me logo Genes that share phenotypes with DERL3: view

Animal Models for DERL3 Gene

MGI Knock Outs for DERL3:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DERL3 Gene

Localization for DERL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DERL3 Gene

Endoplasmic reticulum membrane; Multi-pass 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 DERL3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 1
cytosol 1
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for DERL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005785 colocalizes_with signal recognition particle receptor complex IDA 26565908
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DERL3: view

Pathways & Interactions for DERL3 Gene

genes like me logo Genes that share pathways with DERL3: view

Pathways by source for DERL3 Gene

Gene Ontology (GO) - Biological Process for DERL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018279 protein N-linked glycosylation via asparagine IMP 22607976
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process TAS 22013210
GO:0030968 endoplasmic reticulum unfolded protein response IDA 16449189
GO:1904153 negative regulation of retrograde protein transport, ER to cytosol IMP 25660456
genes like me logo Genes that share ontologies with DERL3: view

No data available for SIGNOR curated interactions for DERL3 Gene

Drugs & Compounds for DERL3 Gene

No Compound Related Data Available

Transcripts for DERL3 Gene

Unigene Clusters for DERL3 Gene

Derlin 3:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DERL3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b ^ 7 ^ 8
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - -
SP5:
SP6: - - - - -
SP7: -

Relevant External Links for DERL3 Gene

GeneLoc Exon Structure for
DERL3
ECgene alternative splicing isoforms for
DERL3

Expression for DERL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DERL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DERL3 Gene

This gene is overexpressed in Spleen (x6.5), Minor Salivary Gland (x5.8), Pancreas (x5.8), and Colon - Transverse (x4.5).

Protein differential expression in normal tissues from HIPED for DERL3 Gene

This gene is overexpressed in Tonsil (25.1), Stomach (22.8), Lung (14.2), and Placenta (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DERL3 Gene



NURSA nuclear receptor signaling pathways regulating expression of DERL3 Gene:

DERL3

SOURCE GeneReport for Unigene cluster for DERL3 Gene:

Hs.593679

mRNA Expression by UniProt/SwissProt for DERL3 Gene:

Q96Q80-DERL3_HUMAN
Tissue specificity: Unlike DERL1 and DERL2, restricted to several tissues. Expressed at high levels in placenta, pancreas, spleen and small intestine.
genes like me logo Genes that share expression patterns with DERL3: view

Primer Products

No data available for Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DERL3 Gene

Orthologs for DERL3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DERL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DERL3 34 35
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia DERL3 34 35
  • 92.72 (n)
cow
(Bos Taurus)
Mammalia DERL3 34 35
  • 92.54 (n)
rat
(Rattus norvegicus)
Mammalia Derl3 34
  • 87.32 (n)
mouse
(Mus musculus)
Mammalia Derl3 34 16 35
  • 87.02 (n)
oppossum
(Monodelphis domestica)
Mammalia DERL3 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DERL3 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves DERL3 35
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii derl3 35
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Der-2 35
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R151.6 35
  • 55 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.13729 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 57 (a)
OneToMany
Species where no ortholog for DERL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for DERL3 Gene

ENSEMBL:
Gene Tree for DERL3 (if available)
TreeFam:
Gene Tree for DERL3 (if available)

Paralogs for DERL3 Gene

Paralogs for DERL3 Gene

(2) SIMAP similar genes for DERL3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DERL3: view

Variants for DERL3 Gene

Sequence variations from dbSNP and Humsavar for DERL3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1057517825 Pathogenic 23,834,143(+) CAGGC(A/G)GATGA downstream-variant-500B, reference, missense
rs387906812 Pathogenic 23,834,152(+) GAGGC(A/G)TCTTG downstream-variant-500B, reference, missense
rs878854600 Pathogenic 23,834,262(+) AGAGG(C/T)GAGGG downstream-variant-500B, utr-variant-3-prime
rs144863210 Likely benign 23,834,153(+) AGGCG(C/T)CTTGC downstream-variant-500B, reference, synonymous-codon
rs369400289 Likely benign 23,834,195(+) CAGCA(A/C)ACGGC downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DERL3 Gene

Variant ID Type Subtype PubMed ID
dgv4528n100 CNV gain 25217958
dgv4531n100 CNV gain 25217958
dgv8039n54 CNV gain 21841781
esv2724041 CNV deletion 23290073
esv3575443 CNV gain 25503493
esv3575444 CNV gain 25503493
esv3575445 CNV gain 25503493
esv3893457 CNV gain 25118596
esv3893461 CNV gain 25118596
nsv1062411 CNV gain 25217958
nsv1066891 CNV gain 25217958
nsv1110863 OTHER inversion 24896259
nsv511075 OTHER complex 20534489
nsv526567 CNV gain 19592680
nsv588647 CNV gain 21841781
nsv7350 OTHER inversion 18451855
nsv834155 CNV gain+loss 17160897

Variation tolerance for DERL3 Gene

Residual Variation Intolerance Score: 89.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.63; 78.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DERL3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DERL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DERL3 Gene

Disorders for DERL3 Gene

Relevant External Links for DERL3

Genetic Association Database (GAD)
DERL3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DERL3

No disorders were found for DERL3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DERL3 Gene

Publications for DERL3 Gene

  1. A membrane protein required for dislocation of misfolded proteins from the ER. (PMID: 15215855) Lilley B.N. … Ploegh H.L. (Nature 2004) 2 3 4 64
  2. Pre-emptive quality control protects the ER from protein overload via the proximity of ERAD components and SRP. (PMID: 26565908) Kadowaki H. … Nishitoh H. (Cell Rep. 2015) 3 4 64
  3. STT3B-dependent posttranslational N-glycosylation as a surveillance system for secretory protein. (PMID: 22607976) Sato T. … Kai H. (Mol. Cell 2012) 3 4 64
  4. Derlin-2 and Derlin-3 are regulated by the mammalian unfolded protein response and are required for ER-associated degradation. (PMID: 16449189) Oda Y. … Mori K. (J. Cell Biol. 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for DERL3 Gene

Sources for DERL3 Gene

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