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Aliases for EBPL Gene

Aliases for EBPL Gene

  • Emopamil Binding Protein Like 2 3 5
  • Emopamil-Binding-Related Protein 3 4
  • EBRP 3 4
  • Emopamil Binding Related Protein, Delta8-Delta7 Sterol Isomerase Related Protein 3
  • Emopamil Binding Protein-Like 2
  • Emopamil-Binding Protein-Like 3
  • ERP 4

External Ids for EBPL Gene

Previous GeneCards Identifiers for EBPL Gene

  • GC13M048033
  • GC13M049132
  • GC13M050234
  • GC13M031028

Summaries for EBPL Gene

GeneCards Summary for EBPL Gene

EBPL (Emopamil Binding Protein Like) is a Protein Coding gene. GO annotations related to this gene include cholestenol delta-isomerase activity. An important paralog of this gene is EBP.

UniProtKB/Swiss-Prot for EBPL Gene

  • Does not possess sterol isomerase activity and does not bind sigma ligands.

Additional gene information for EBPL Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EBPL Gene

Genomics for EBPL Gene

Regulatory Elements for EBPL Gene

Enhancers for EBPL 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
GH13H049809 1.1 Ensembl ENCODE 37.2 -120.2 -120214 3 ELF3 FOXA2 ZFP64 ARID4B KLF17 THRB ZSCAN9 RARA FOS ATF7 EBPL RCBTB1 KPNA3 RNY4P30
GH13H049689 1.1 ENCODE 31.3 -0.4 -375 4 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ETS1 ZNF121 GLIS2 ZNF143 EBPL SETDB2 TRIM13 KCNRG RCBTB1 GC13P049698
GH13H049790 1.1 ENCODE 26.2 -100.9 -100894 3 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 EBPL SPRYD7 KPNA3 SETDB2 DLEU1 ENSG00000276436 GC13P049698
GH13H049820 0.8 ENCODE 32.8 -129.5 -129488 1 SOX13 CTCF SAP130 ZNF644 THRB RARA TEAD3 NR2F6 CREM HOMEZ EBPL KPNA3 RCBTB1 TRIM13 RNY4P30
GH13H049649 0.9 Ensembl ENCODE 28.3 +40.1 40099 4 CTCF ZNF654 KLF1 ZNF740 REST RAD21 TEAD3 PATZ1 SMC3 FOS EBPL ARL11 KPNA3 PHF11 RCBTB1 GC13M049652 LOC105370205
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EBPL on UCSC Golden Path with GeneCards custom track

Promoters for EBPL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000062769 387 1801 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF121 GLIS2 ZNF143 RUNX3

Genomic Location for EBPL Gene

Chromosome:
13
Start:
49,660,676 bp from pter
End:
49,691,487 bp from pter
Size:
30,812 bases
Orientation:
Minus strand

Genomic View for EBPL Gene

Genes around EBPL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EBPL Gene

Proteins for EBPL Gene

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

    Protein Symbol:
    Q9BY08-EBPL_HUMAN
    Recommended name:
    Emopamil-binding protein-like
    Protein Accession:
    Q9BY08
    Secondary Accessions:
    • A6NJ59
    • Q569H7
    • Q5JVN2
    • Q5JVN3
    • Q5JVN4
    • Q5JVN5
    • Q5JVN6

    Protein attributes for EBPL Gene

    Size:
    206 amino acids
    Molecular mass:
    23204 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for EBPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EBPL Gene

Post-translational modifications for EBPL Gene

No Post-translational modifications

Other Protein References for EBPL Gene

No data available for DME Specific Peptides for EBPL Gene

Domains & Families for EBPL Gene

Gene Families for EBPL Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for EBPL Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EBPL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BY08

UniProtKB/Swiss-Prot:

EBPL_HUMAN :
  • Belongs to the EBP family.
Family:
  • Belongs to the EBP family.
genes like me logo Genes that share domains with EBPL: view

Function for EBPL Gene

Molecular function for EBPL Gene

UniProtKB/Swiss-Prot Function:
Does not possess sterol isomerase activity and does not bind sigma ligands.

Phenotypes From GWAS Catalog for EBPL Gene

Gene Ontology (GO) - Molecular Function for EBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0047750 cholestenol delta-isomerase activity IEA --
genes like me logo Genes that share ontologies with EBPL: view
genes like me logo Genes that share phenotypes with EBPL: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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

Localization for EBPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for EBPL 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 EBPL gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
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 EBPL: view

Pathways & Interactions for EBPL Gene

No Data Available

Interacting Proteins for EBPL Gene

Gene Ontology (GO) - Biological Process for EBPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016125 sterol metabolic process IEA --
genes like me logo Genes that share ontologies with EBPL: view

No data available for Pathways by source and SIGNOR curated interactions for EBPL Gene

Drugs & Compounds for EBPL Gene

No Compound Related Data Available

Transcripts for EBPL Gene

Unigene Clusters for EBPL Gene

Emopamil binding protein-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - - -
SP7:
SP8: -

Relevant External Links for EBPL Gene

GeneLoc Exon Structure for
EBPL
ECgene alternative splicing isoforms for
EBPL

Expression for EBPL Gene

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

Protein differential expression in normal tissues from HIPED for EBPL Gene

This gene is overexpressed in Testis (69.0).

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



Protein tissue co-expression partners for EBPL Gene

NURSA nuclear receptor signaling pathways regulating expression of EBPL Gene:

EBPL

SOURCE GeneReport for Unigene cluster for EBPL Gene:

Hs.433278

mRNA Expression by UniProt/SwissProt for EBPL Gene:

Q9BY08-EBPL_HUMAN
Tissue specificity: Widely expressed with highest levels in liver, lung and kidney.

Evidence on tissue expression from TISSUES for EBPL Gene

  • Liver(4.4)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with EBPL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EBPL Gene

Orthologs for EBPL Gene

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

Orthologs for EBPL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EBPL 34 33
  • 99.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EBPL 33 34
  • 85.61 (n)
dog
(Canis familiaris)
Mammalia EBPL 33 34
  • 82.04 (n)
rat
(Rattus norvegicus)
Mammalia Ebpl 33
  • 82.04 (n)
mouse
(Mus musculus)
Mammalia Ebpl 33 16 34
  • 80.74 (n)
oppossum
(Monodelphis domestica)
Mammalia EBPL 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ebpl 33
  • 70.27 (n)
zebrafish
(Danio rerio)
Actinopterygii ebpl 33 34
  • 68.48 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03752 33
  • 53.58 (n)
Species where no ortholog for EBPL 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for EBPL Gene

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

Paralogs for EBPL Gene

Paralogs for EBPL Gene

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

Pseudogenes.org Pseudogenes for EBPL Gene

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

Variants for EBPL Gene

Sequence variations from dbSNP and Humsavar for EBPL Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000127469 -- 49,672,919(+) GCCGG(C/G)TGTGG intron-variant
rs1000182295 -- 49,677,310(+) TCAAT(C/T)CTGCT intron-variant
rs1000297670 -- 49,677,765(+) AAATA(C/T)TGTGT intron-variant
rs1000309778 -- 49,672,059(+) GCTAA(C/G)TTTGT intron-variant
rs1000357460 -- 49,682,441(+) TAATC(C/T)GGGTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv3580633 CNV loss 25503493
esv3632050 CNV gain 21293372
nsv1144677 CNV deletion 24896259

Variation tolerance for EBPL Gene

Residual Variation Intolerance Score: 44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.92; 19.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EBPL Gene

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

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

Disorders for EBPL Gene

Relevant External Links for EBPL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EBPL

No disorders were found for EBPL Gene.

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

Publications for EBPL Gene

  1. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. (PMID: 12760743) Moebius FF … Glossmann H (The Biochemical journal 2003) 3 4 22 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. Novel interactive partners of neuroligin 3: new aspects for pathogenesis of autism. (PMID: 25464930) Shen C … Zhong N (Journal of molecular neuroscience : MN 2015) 3 60
  4. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J … Yang X (Molecular systems biology 2011) 3 60
  5. Functional characterization of Borrelia spielmanii outer surface proteins that interact with distinct members of the human factor H protein family and with plasminogen. (PMID: 19858303) Seling A … Kraiczy P (Infection and immunity 2010) 22 60

Products for EBPL Gene

Sources for EBPL Gene

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