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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 Protein processing in endoplasmic reticulum and HIV Life Cycle. 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

Additional gene information for ERLEC1 Gene

No data available for CIViC summary , 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
GH02H053811 0.7 ENCODE 11.9 +26.0 26027 2 HLF CEBPB CEBPG EP300 ATF2 ZNF316 MAFF ATF3 ATF7 EMSY ASB3 ERLEC1 ACYP2 PIR55664
GH02H053785 1.1 ENCODE 0.7 +0.1 64 2 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 CBX5 ACYP2 ASB3 GPR75 ERLEC1
GH02H053766 1 ENCODE 0.4 -18.9 -18936 2 PKNOX1 ARNT ARID4B SIN3A DMAP1 BRCA1 YY1 ETS1 ZNF766 ZNF143 ACYP2 ASB3 CHAC2 ERLEC1
GH02H053769 0.7 ENCODE 0.4 -17.5 -17466 0 BCOR HDAC1 PKNOX1 ZNF175 ZNF316 POLR2A ZSCAN29 NFE2 MAFK L3MBTL2 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
ENSR00000117113 169 2601 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 CBX5

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

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

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

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

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: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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ERLEC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 IDA,IEA 16531414
GO:0044322 endoplasmic reticulum quality control compartment TAS --
genes like me logo Genes that share ontologies with ERLEC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IBA --
GO:0036503 ERAD pathway TAS 21062743
GO:0055085 transmembrane transport TAS --
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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ERLEC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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

Evidence on tissue expression from TISSUES for ERLEC1 Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Lung(2.7)
  • Muscle(2.5)
  • Stomach(2.4)
  • Pancreas(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with ERLEC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia ERLEC1 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERLEC1 33 34
  • 93.93 (n)
rat
(Rattus norvegicus)
Mammalia Erlec1 33
  • 91.42 (n)
mouse
(Mus musculus)
Mammalia Erlec1 33 16 34
  • 91.03 (n)
oppossum
(Monodelphis domestica)
Mammalia ERLEC1 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERLEC1 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERLEC1 33 34
  • 75.62 (n)
lizard
(Anolis carolinensis)
Reptilia ERLEC1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia erlec1 33
  • 72.08 (n)
Str.6547 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.22020 33
zebrafish
(Danio rerio)
Actinopterygii LOC100535374 33
  • 66.96 (n)
erlec1 34 34
  • 66 (a)
OneToMany
sbcb309 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7091 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009546 33
  • 48.88 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6766 33 34
  • 45.62 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y105E8A.2 33
  • 47.15 (n)
Y105E8A.2 34
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOS9 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1764 34
  • 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
rs1000099869 -- 53,786,570(+) GCGGG(-/A)AAAAT intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000112702 -- 53,804,703(+) GTATT(A/G)TTGAC intron-variant
rs1000123833 -- 53,824,570(+) CTGGT(C/G)TCAAA intron-variant
rs1000152460 -- 53,827,284(+) GAACT(G/T)AACTT intron-variant, downstream-variant-500B
rs1000181384 -- 53,819,646(+) GGTGG(A/C/G)AGGCA 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

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

Disorder Aliases PubMed IDs
critical illness polyneuropathy
  • polyneuropathy, critical illness
gastric leiomyosarcoma
  • leiomyosarcoma of stomach
osteogenesis imperfecta, type v
  • osteogenesis imperfecta type 5
alcohol-induced mental disorder
  • psychoses, alcoholic
alcoholic psychosis
  • alcoholic psychoses
- 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 JC … Kopito RR (Nature cell biology 2008) 2 3 4 60
  2. The MRH protein Erlectin is a member of the endoplasmic reticulum synexpression group and functions in N-glycan recognition. (PMID: 16531414) Cruciat CM … Niehrs C (The Journal of biological chemistry 2006) 2 3 4 60
  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 (The Journal of biological chemistry 2008) 3 4 60
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for ERLEC1 Gene

Sources for ERLEC1 Gene

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