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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
  • DERtrin-3 3 4
  • C22orf14 3 4
  • LLN2 3 4
  • Chromosome 22 Open Reading Frame 14 2
  • DERtrin 3 3
  • 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 Protein processing in endoplasmic reticulum. An important paralog of this gene is DERL1.

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 degradation substrate.

Gene Wiki entry for DERL3 Gene

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

Genomics for DERL3 Gene

Regulatory Elements for DERL3 Gene

Promoters for DERL3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DERL3 on UCSC Golden Path with GeneCards custom track

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. Interacts with VCP, EDEM1, SELK and VIMP/SELS.

    Alternative splice isoforms for DERL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DERL3 Gene

Proteomics data for DERL3 Gene at MOPED

Post-translational modifications for DERL3 Gene

No Post-translational modifications

Other Protein References for DERL3 Gene

Antibody Products

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

InterPro:
ProtoNet:

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 degradation substrate.
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded protein response (UPR).
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

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for DERL3 Gene COMPARTMENTS Subcellular localization image for DERL3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for DERL3 Gene

Pathways & Interactions for DERL3 Gene

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

Pathways by source for DERL3 Gene

1 GeneTex pathway for DERL3 Gene
1 KEGG pathway 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
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:

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 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



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

In Situ Assay Products

No data available for Protein tissue co-expression partners 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 36
  • 99 (a)
OneToOne
DERL3 35
  • 99.15 (n)
  • 98.72 (a)
cow
(Bos Taurus)
Mammalia DERL3 35
  • 92.54 (n)
  • 94.74 (a)
DERL3 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DERL3 36
  • 86 (a)
OneToOne
DERL3 35
  • 92.72 (n)
  • 96.45 (a)
mouse
(Mus musculus)
Mammalia Derl3 16
Derl3 36
  • 83 (a)
OneToOne
Derl3 35
  • 87.02 (n)
  • 91.15 (a)
oppossum
(Monodelphis domestica)
Mammalia DERL3 36
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DERL3 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Derl3 35
  • 87.32 (n)
  • 91.15 (a)
chicken
(Gallus gallus)
Aves DERL3 36
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii derl3 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Der-2 36
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R151.6 36
  • 55 (a)
OneToMany
wheat
(Triticum aestivum)
Liliopsida Ta.13729 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToMany
Species with no ortholog for DERL3:
  • 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
rs1128127 - 23,836,945(+) CAGGG(A/G)CATCC intron-variant, reference, missense, utr-variant-3-prime
rs3177243 - 23,837,735(+) GCCTG(C/G)AAAGT reference, missense
rs738801 -- 23,841,011(+) GGAAT(C/T)CTTGA upstream-variant-2KB
rs2275978 -- 23,839,696(+) GGAGA(C/G)GTCCT upstream-variant-2KB
rs5760062 -- 23,836,403(+) GGAGA(C/G)GCCTG intron-variant, downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
esv2724041 CNV Deletion 23290073
nsv526567 CNV Gain 19592680
dgv4906n71 CNV Gain 21882294
nsv914598 CNV Loss 21882294
nsv914599 CNV Gain 21882294
nsv511075 CNV Complex 20534489
dgv4907n71 CNV Loss 21882294
dgv4908n71 CNV Loss 21882294
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

HapMap Linkage Disequilibrium report
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. STT3B-dependent posttranslational N-glycosylation as a surveillance system for secretory protein. (PMID: 22607976) Sato T. … Kai H. (Mol. Cell 2012) 3 4 67
  2. A membrane protein required for dislocation of misfolded proteins from the ER. (PMID: 15215855) Lilley B.N. … Ploegh H.L. (Nature 2004) 2 3
  3. Identification of ERAD components essential for dislocation of the null Hong Kong variant of I+-1-antitrypsin (NHK). (PMID: 25660456) Zhong Y. … Fang S. (Biochem. Biophys. Res. Commun. 2015) 3
  4. A DERL3-associated defect in the degradation of SLC2A1 mediates the Warburg effect. (PMID: 24699711) Lopez-Serra P. … Esteller M. (Nat Commun 2014) 3
  5. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G. … Rudan I. (PLoS Genet. 2013) 3

Products for DERL3 Gene

Sources for DERL3 Gene

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