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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 Alcohol-Induced Mental Disorder and Alcoholic Psychosis. Among its related pathways are HIV Life Cycle and Regulation of activated PAK-2p34 by proteasome mediated degradation. 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 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
GH02F053811 0.7 ENCODE 11.8 +26.0 26027 2.5 HLF CEBPB EP300 JUND MAFF ZNF316 ATF3 IKZF1 MAFK EMSY ERLEC1 ASB3 ACYP2 PIR55664
GH02F053785 1.1 ENCODE 0.8 +0.1 64 3.0 PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ACYP2 ASB3 GPR75 ERLEC1
GH02F053766 1 ENCODE 0.3 -18.9 -18936 2.5 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 BRCA1 YY1 ZNF143 YY2 ACYP2 ASB3 CHAC2 ERLEC1
GH02F053769 0.7 ENCODE 0.3 -17.5 -17466 0.0 BCOR HDAC1 ZNF175 ZNF316 POLR2A ZSCAN29 PRDM10 NFE2 MAFK MAFG ACYP2 CHAC2 ERLEC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000590415 169 3001 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143

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

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:0001948 glycoprotein binding IDA 16531414
GO:0005515 protein binding IPI 16531414
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

Flow Cytometry 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
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 ERLEC1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ERLEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA,IDA 16531414
GO:0044322 endoplasmic reticulum quality control compartment TAS --
genes like me logo Genes that share ontologies with ERLEC1: view

Pathways & Interactions for ERLEC1 Gene

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

Gene Ontology (GO) - Biological Process for ERLEC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036503 ERAD pathway TAS 21062743
GO:1904153 negative regulation of retrograde protein transport, ER to cytosol IMP 25660456
genes like me logo Genes that share ontologies with ERLEC1: view

No data available for SIGNOR curated interactions for ERLEC1 Gene

Transcripts for ERLEC1 Gene

Unigene Clusters for ERLEC1 Gene

Endoplasmic reticulum lectin 1:
Representative Sequences:

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ERLEC1 Gene



Protein tissue co-expression partners for ERLEC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERLEC1 Gene:

ERLEC1

SOURCE GeneReport for Unigene cluster for ERLEC1 Gene:

Hs.438336
genes like me logo Genes that share expression patterns with ERLEC1: view

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
chimpanzee
(Pan troglodytes)
Mammalia ERLEC1 34 35
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia ERLEC1 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERLEC1 34 35
  • 93.93 (n)
rat
(Rattus norvegicus)
Mammalia Erlec1 34
  • 91.42 (n)
mouse
(Mus musculus)
Mammalia Erlec1 34 16 35
  • 91.03 (n)
oppossum
(Monodelphis domestica)
Mammalia ERLEC1 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERLEC1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERLEC1 34 35
  • 75.62 (n)
lizard
(Anolis carolinensis)
Reptilia ERLEC1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erlec1 34
  • 72.08 (n)
Str.6547 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.22020 34
zebrafish
(Danio rerio)
Actinopterygii erlec1 34 35 35
  • 66.96 (n)
sbcb309 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7091 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009546 34
  • 48.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6766 34 35
  • 45.62 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y105E8A.2 34
  • 47.15 (n)
Y105E8A.2 35
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOS9 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1764 35
  • 44 (a)
OneToOne
Species where no ortholog for ERLEC1 was found in the sources mined by GeneCards:
  • 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
rs10171319 -- 53,821,019(+) CTTGA(A/C)TAACA intron-variant
rs10181752 -- 53,787,166(+) CCTGG(A/G)GCAGA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs10196966 -- 53,809,607(+) tagcc(A/G)ggagt intron-variant
rs10201662 -- 53,823,165(+) ACACA(A/G)TAATT intron-variant
rs10205725 -- 53,817,430(+) gccca(A/G)cctcc intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1009829 CNV loss 25217958
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)

Relevant External Links for ERLEC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERLEC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERLEC1 Gene

Disorders for ERLEC1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
alcohol-induced mental disorder
  • psychoses, alcoholic
alcoholic psychosis
  • alcoholic psychoses
critical illness polyneuropathy
  • polyneuropathy, critical illness
gastric leiomyosarcoma
  • leiomyosarcoma of stomach
- 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 64
  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 4 64
  3. Human XTP3-B forms an endoplasmic reticulum quality control scaffold with the HRD1-SEL1L ubiquitin ligase complex and BiP. (PMID: 18502753) Hosokawa N. … Nagata K. (J. Biol. Chem. 2008) 3 4 64
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 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 ERLEC1 Gene

Sources for ERLEC1 Gene

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