Aliases for EBPL Gene

Aliases for EBPL Gene

  • EBP Like 2 3 5
  • Emopamil-Binding-Related Protein 3 4
  • Emopamil-Binding Protein-Like 3 4
  • Emopamil Binding Protein Like 2 3
  • EBRP 3 4
  • Emopamil Binding Related Protein, Delta8-Delta7 Sterol Isomerase Related Protein 3
  • Emopamil Binding Protein-Like 2
  • 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 (EBP Like) is a Protein Coding gene. Diseases associated with EBPL include Malignant Mesenchymoma and Mesenchymoma. Gene Ontology (GO) annotations related to this gene include cholestenol delta-isomerase activity. An important paralog of this gene is EBP.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for EBPL Gene

Genomics for EBPL Gene

GeneHancer (GH) Regulatory Elements for EBPL Gene

Promoters and enhancers for EBPL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J049689 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 531.3 -0.4 -375 4.4 TCF12 MYC POLR2G SP1 NCOR1 PHF8 ZFX ZIC2 POLR2A CLOCK EBPL RCBTB1 piR-48325-029
GH13J049790 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 26.2 -100.8 -100840 3.5 HNRNPK ZNF217 SIN3A NRF1 TCF12 POLR2G USF1 SP1 NCOR1 PHF8 KPNA3 ENSG00000276436 EBPL SPRYD7 SETDB2 DLEU1 lnc-EBPL-2
GH13J049809 Enhancer 1 Ensembl ENCODE 37.2 -120.2 -120214 3.7 NCOR1 FOS KDM6A TCF7 ZBTB7A SKI TEAD1 RBM25 FOXA2 CEBPB EBPL RCBTB1 piR-43105-142 HSALNG0097078
GH13J049710 Enhancer 0.8 Ensembl ENCODE 37.1 -20.1 -20113 1.6 FOS CREB1 POLR2A ZNF205 JUND FOSL2 HOMEZ SMARCA4 NR2F6 HNF4A EBPL KPNA3 RCBTB1 SETDB2 piR-48325-029
GH13J049733 Enhancer 0.6 Ensembl 41 -42.1 -42114 0.8 USF1 MAFF JUND SMAD4 BCL6 ZBTB40 RAD21 RXRA MAX HNF4A EBPL KPNA3 piR-48325-029
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EBPL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EBPL

Top Transcription factor binding sites by QIAGEN in the EBPL gene promoter:
  • AhR
  • AML1a
  • AREB6
  • Arnt
  • Cdc5
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXO1
  • GATA-1
  • POU2F1

Genomic Locations for EBPL Gene

Genomic Locations for EBPL Gene
chr13:49,660,674-49,691,487
(GRCh38/hg38)
Size:
30,814 bases
Orientation:
Minus strand
chr13:50,234,810-50,265,623
(GRCh37/hg19)
Size:
30,814 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

Blocks:
  • Emopamil-binding
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EBPL Gene

GenScript: Design optimal peptide antigens:
  • Emopamil-binding-related protein (EBPL_HUMAN)

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

Clone Products

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 4
plasma membrane 3
mitochondrion 1

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

PathCards logo

SuperPathways 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

mRNA/cDNA for EBPL Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

Expression for EBPL Gene

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



Protein tissue co-expression partners for EBPL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.51 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EBPL 31 30
  • 85.61 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EBPL 31 30
  • 82.04 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ebpl 30
  • 82.04 (n)
mouse
(Mus musculus)
Mammalia Ebpl 17 31 30
  • 80.74 (n)
oppossum
(Monodelphis domestica)
Mammalia EBPL 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ebpl 30
  • 70.27 (n)
zebrafish
(Danio rerio)
Actinopterygii ebpl 31 30
  • 68.48 (n)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU03752 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EBPL: view image

Paralogs for EBPL Gene

Paralogs for EBPL Gene

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

  • EBPL_HUMAN
  • Q6GPH7_HUMAN

Pseudogenes.org Pseudogenes for EBPL Gene

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

Variants for EBPL Gene

Additional dbSNP identifiers (rs#s) for EBPL Gene

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)

Additional Variant Information for EBPL Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EBPL Gene

Disorders for EBPL Gene

MalaCards: The human disease database

(3) MalaCards diseases for EBPL Gene - From: DISEASES

Disorder Aliases PubMed IDs
malignant mesenchymoma
  • sarcoma
mesenchymoma
cellular myxoid liposarcoma
  • round cell liposarcoma
- elite association - COSMIC cancer census association via MalaCards
Search EBPL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EBPL

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

No data available for 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 23 54
  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 54
  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 54
  4. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J … Yang X (Molecular systems biology 2011) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for EBPL Gene

Sources for EBPL Gene