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Aliases for ERLEC1 Gene

Aliases for ERLEC1 Gene

  • Endoplasmic Reticulum Lectin 1 2 3 5
  • XTP3-Transactivated Gene B Protein 3 4
  • Erlectin 1 2 3
  • ER Lectin 3 4
  • C2orf30 3 4
  • XTP3TPB 3 4
  • Cancer Invasion And Metastasis-Related 3
  • Chromosome 2 Open Reading Frame 30 2
  • Epididymis Luminal Protein 117 3
  • XTP3-Transactivated Protein B 3
  • Erlectin 4
  • CL24936 3
  • CL25084 3
  • HEL117 3
  • XTP3-B 3
  • CIM 3

External Ids for ERLEC1 Gene

Previous HGNC Symbols for ERLEC1 Gene

  • C2orf30

Previous GeneCards Identifiers for ERLEC1 Gene

  • GC02P053867
  • GC02P054015
  • GC02P053748

Summaries for ERLEC1 Gene

Entrez Gene Summary for ERLEC1 Gene

  • This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]

GeneCards Summary for ERLEC1 Gene

ERLEC1 (Endoplasmic Reticulum Lectin 1) is a Protein Coding gene. Diseases associated with ERLEC1 include Critical Illness Polyneuropathy and Gastric Leiomyosarcoma. Among its related pathways are Infectious disease and Downstream signaling events of B Cell Receptor (BCR). GO annotations related to this gene include glycoprotein binding. An important paralog of this gene is OS9.

UniProtKB/Swiss-Prot for ERLEC1 Gene

  • Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins and glycoproteins.

Gene Wiki entry for ERLEC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERLEC1 Gene

Genomics for ERLEC1 Gene

Regulatory Elements for ERLEC1 Gene

Enhancers for ERLEC1 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 ERLEC1 on UCSC Golden Path with GeneCards custom track

Promoters for ERLEC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERLEC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ERLEC1 Gene

Chromosome:
2
Start:
53,786,931 bp from pter
End:
53,826,928 bp from pter
Size:
39,998 bases
Orientation:
Plus strand

Genomic View for ERLEC1 Gene

Genes around ERLEC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERLEC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERLEC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERLEC1 Gene

Proteins for ERLEC1 Gene

  • Protein details for ERLEC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DZ1-ERLEC_HUMAN
    Recommended name:
    Endoplasmic reticulum lectin 1
    Protein Accession:
    Q96DZ1
    Secondary Accessions:
    • B2RDB4
    • B5MC72
    • O95901
    • Q6UWN7
    • Q9NUY7
    • Q9UQL4

    Protein attributes for ERLEC1 Gene

    Size:
    483 amino acids
    Molecular mass:
    54858 Da
    Quaternary structure:
    • May form a complex with OS9, HSPA5, SYVN1, and SEL1L with which it interacts directly. Interacts (via PRKCSH 2 domain) with KREMEN2 (when glycosylated). Interacts with HSPA5.

    Alternative splice isoforms for ERLEC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERLEC1 Gene

Proteomics data for ERLEC1 Gene at MOPED

Post-translational modifications for ERLEC1 Gene

Other Protein References for ERLEC1 Gene

No data available for DME Specific Peptides for ERLEC1 Gene

Domains & Families for ERLEC1 Gene

Gene Families for ERLEC1 Gene

Protein Domains for ERLEC1 Gene

Suggested Antigen Peptide Sequences for ERLEC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96DZ1

UniProtKB/Swiss-Prot:

ERLEC_HUMAN :
  • Contains 2 PRKCSH domains.
Domain:
  • Contains 2 PRKCSH domains.
genes like me logo Genes that share domains with ERLEC1: view

Function for ERLEC1 Gene

Molecular function for ERLEC1 Gene

UniProtKB/Swiss-Prot Function:
Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins and glycoproteins.

Gene Ontology (GO) - Molecular Function for ERLEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051082 unfolded protein binding IDA 21062743
genes like me logo Genes that share ontologies with ERLEC1: view
genes like me logo Genes that share phenotypes with ERLEC1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ERLEC1 Gene

Localization for ERLEC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERLEC1 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERLEC1 Gene COMPARTMENTS Subcellular localization image for ERLEC1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
cytosol 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for ERLEC1 Gene

Pathways & Interactions for ERLEC1 Gene

genes like me logo Genes that share pathways with ERLEC1: view

Gene Ontology (GO) - Biological Process for ERLEC1 Gene

None

No data available for SIGNOR curated interactions for ERLEC1 Gene

Drugs & Compounds for ERLEC1 Gene

No Compound Related Data Available

Transcripts for ERLEC1 Gene

Unigene Clusters for ERLEC1 Gene

Endoplasmic reticulum lectin 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ERLEC1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
SP1: -
SP2: - -
SP3:

Relevant External Links for ERLEC1 Gene

GeneLoc Exon Structure for
ERLEC1
ECgene alternative splicing isoforms for
ERLEC1

Expression for ERLEC1 Gene

mRNA expression in normal human tissues for ERLEC1 Gene

Protein differential expression in normal tissues from HIPED for ERLEC1 Gene

This gene is overexpressed in Breast (16.7), Placenta (11.6), Peripheral blood mononuclear cells (8.0), and Pancreas (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ERLEC1 Gene



SOURCE GeneReport for Unigene cluster for ERLEC1 Gene Hs.438336

genes like me logo Genes that share expression patterns with ERLEC1: view

Protein tissue co-expression partners for ERLEC1 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERLEC1 Gene

Orthologs for ERLEC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERLEC1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia ERLEC1 35
  • 93.93 (n)
  • 96.27 (a)
ERLEC1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Erlec1 35
  • 91.03 (n)
  • 96.48 (a)
Erlec1 16
Erlec1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERLEC1 35
  • 99.65 (n)
  • 99.79 (a)
ERLEC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erlec1 35
  • 91.42 (n)
  • 95.23 (a)
cow
(Bos Taurus)
Mammalia ERLEC1 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERLEC1 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERLEC1 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERLEC1 35
  • 75.62 (n)
  • 79.86 (a)
ERLEC1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERLEC1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erlec1 35
  • 72.08 (n)
  • 73 (a)
Str.6547 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.22020 35
zebrafish
(Danio rerio)
Actinopterygii erlec1 35
  • 66.96 (n)
  • 69.48 (a)
sbcb309 35
erlec1 36
  • 66 (a)
OneToMany
erlec1 36
  • 66 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7091 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009546 35
  • 48.88 (n)
  • 41.53 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6766 35
  • 45.62 (n)
  • 35.1 (a)
CG6766 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y105E8A.2 35
  • 47.15 (n)
  • 36.22 (a)
Y105E8A.2 36
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOS9 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1764 36
  • 44 (a)
OneToOne
Species with no ortholog for ERLEC1:
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ERLEC1 Gene

ENSEMBL:
Gene Tree for ERLEC1 (if available)
TreeFam:
Gene Tree for ERLEC1 (if available)

Paralogs for ERLEC1 Gene

Paralogs for ERLEC1 Gene

(1) SIMAP similar genes for ERLEC1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for ERLEC1 Gene

genes like me logo Genes that share paralogs with ERLEC1: view

Variants for ERLEC1 Gene

Sequence variations from dbSNP and Humsavar for ERLEC1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_051493 -

Structural Variations from Database of Genomic Variants (DGV) for ERLEC1 Gene

Variant ID Type Subtype PubMed ID
nsv834058 CNV Gain+Loss 17160897

Variation tolerance for ERLEC1 Gene

Residual Variation Intolerance Score: 48.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.93; 67.88% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ERLEC1 Gene

Disorders for ERLEC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ERLEC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
critical illness polyneuropathy
  • polyneuropathy, critical illness
gastric leiomyosarcoma
  • leiomyosarcoma of stomach
alcoholic psychosis
  • alcoholic psychoses
alcohol-induced mental disorder
  • psychoses, alcoholic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ERLEC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERLEC1
genes like me logo Genes that share disorders with ERLEC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ERLEC1 Gene

Publications for ERLEC1 Gene

  1. OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD. (PMID: 18264092) Christianson J.C. … Kopito R.R. (Nat. Cell Biol. 2008) 2 3 4 67
  2. The MRH protein Erlectin is a member of the endoplasmic reticulum synexpression group and functions in N-glycan recognition. (PMID: 16531414) Cruciat C.-M. … Niehrs C. (J. Biol. Chem. 2006) 2 3
  3. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3
  4. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3
  5. Systematic identification of molecular links between core and candidate genes in breast cancer. (PMID: 25640309) Arroyo R. … Aloy P. (J. Mol. Biol. 2015) 3

Products for ERLEC1 Gene

Sources for ERLEC1 Gene

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