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EBPL Gene

protein-coding   GIFtS: 46
GCID: GC13M050234

Emopamil Binding Protein-Like

  Search for EBPL
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Emopamil Binding Protein-Like1 2
Emopamil-Binding-Related Protein2 3
EBRP2 3
Emopamil Binding Related Protein, Delta8-Delta7 Sterol Isomerase Related
Protein2
Emopamil-Binding Protein-Like2
ERP3

External Ids:    HGNC: 180611   Entrez Gene: 846502   Ensembl: ENSG000001231797   UniProtKB: Q9BY083   

Export aliases for EBPL gene to outside databases

Previous GC identifers: GC13M048033 GC13M049132 GC13M031028


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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: EBPL_HUMAN, Q9BY08
Function: Does not possess sterol isomerase activity and does not bind sigma ligands




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NC_018924.2  NT_024524.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the EBPL gene promoter:
         AhR   AML1a   Cdc5   GATA-1   Arnt   AREB6   POU2F1   FOXJ2 (long isoform)   FOXJ2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEBPL promoter sequence
   Search Chromatin IP Primers for EBPL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EBPL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12-q13   Ensembl cytogenetic band:  13q14.2   HGNC cytogenetic band: 13q12-q13

EBPL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EBPL gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M050234:  view genomic region     (about GC identifiers)

Start:
50,234,810 bp from pter      End:
50,265,623 bp from pter
Size:
30,814 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: EBPL_HUMAN, Q9BY08 (See protein sequence)
Recommended Name: Emopamil-binding protein-like  
Size: 206 amino acids; 23204 Da
Subunit: Homodimer
Secondary accessions: A6NJ59 Q569H7 Q5JVN2 Q5JVN3 Q5JVN4 Q5JVN5 Q5JVN6
Alternative splicing: 5 isoforms:  Q9BY08-1   Q9BY08-2   Q9BY08-3   Q9BY08-4   Q9BY08-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EBPL: NX_Q9BY08

Explore proteomics data for EBPL at MOPED


See EBPL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001265565.1  NP_115954.1  

ENSEMBL proteins: 
 ENSP00000367533   ENSP00000367521   ENSP00000242827   ENSP00000367519   ENSP00000367516  
 ENSP00000367531  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro protein domain:
 IPR007905 EBP

Graphical View of Domain Structure for InterPro Entry Q9BY08

ProtoNet protein and cluster: Q9BY08

1 Blocks protein domain: IPB007905 Emopamil-binding

UniProtKB/Swiss-Prot: EBPL_HUMAN, Q9BY08
Similarity: Belongs to the EBP family


Find genes that share domains with EBPL           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: EBPL_HUMAN, Q9BY08
Function: Does not possess sterol isomerase activity and does not bind sigma ligands

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0047750cholestenol delta-isomerase activity IEA--
     
Find genes that share ontologies with EBPL           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for EBPL:
 Decreased cell number, increas 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
EBPL_HUMAN, Q9BY08: Endoplasmic reticulum membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
plasma membrane3

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005783endoplasmic reticulum IDA--
GO:0005789endoplasmic reticulum membrane IEA--
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with EBPL           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EBPL
Interactions:

    Search GeneGlobe Interaction Network for EBPL

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for EBPL (Q9BY083 ENSP000002428274) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
EBPQ151253, ENSP000004170524I2D: score=2 STRING: ENSP00000417052
DEPDC1BENSP000002650364STRING: ENSP00000265036
About this table

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016125sterol metabolic process IEA--

Find genes that share ontologies with EBPL           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for EBPL



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for EBPL gene (2 alternative transcripts): 
NM_001278636.1  NM_032565.4  

Unigene Cluster for EBPL:

Emopamil binding protein-like
Hs.433278  [show with all ESTs]
Unigene Representative Sequence: BM467066
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000473576 ENST00000378284(uc001vdi.3) ENST00000378272 ENST00000495963
ENST00000242827 ENST00000378270 ENST00000378268 ENST00000378282
miRNA
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Inhib. RNA
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Primer
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OriGene qPCR primer pairs and template standards for EBPL
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EBPL
  QuantiTect SYBR Green Assays in human, mouse, rat EBPL
  QuantiFast Probe-based Assays in human, mouse, rat EBPL

Additional mRNA sequence: 

AF243433.1 BC018478.1 BC021021.1 BC073152.1 BC092471.1 

6 DOTS entries:

DT.413221  DT.97842213  DT.120781010  DT.91728033  DT.100707540  DT.86855980 

Selected AceView cDNA sequences (see all 127):

AI753314 AI347879 BC073152 AA340141 BQ421972 AW072623 BC018478 BU675037 
AA777740 BM967207 CK823462 AW316565 CN484996 BU184000 BC021021 AI564542 
BQ639561 AI470581 AI092626 N53927 BQ082036 BX097727 BM818148 AA373288 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for EBPL (see all 8)    About this scheme

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


ECgene alternative splicing isoforms for EBPL

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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EBPL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AACCAGAATG
EBPL Expression
About this image

EBPL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

EBPL Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.433278

UniProtKB/Swiss-Prot: EBPL_HUMAN, Q9BY08
Tissue specificity: Widely expressed with highest levels in liver, lung and kidney

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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for EBPL gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ebpl1 , 5 emopamil binding protein-like1, 5 80.74(n)1
75.73(a)1
  14 (32.72 cM)5
681771  NM_026598.31  NP_080874.21 
 613397635 
tropical clawed frog
(Xenopus tropicalis)
Amphibia ebpl1 emopamil binding protein-like 70.27(n)
72.73(a)
  100490482  XM_002935736.2  XP_002935782.1 
zebrafish
(Danio rerio)
Actinopterygii ebpl1 emopamil binding protein-like 68.48(n)
72.73(a)
  768138  NM_001005397.1  NP_001005397.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for EBPL gene
EBP2  
1 SIMAP similar gene for EBPL using alignment to 2 protein entries:     EBPL_HUMAN (see all proteins):
EBP

Find genes that share paralogs with EBPL           About GenesLikeMe


1 Pseudogenes.org Pseudogene for EBPL
PGOHUM00000259079


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for EBPL (see all 730)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 13 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1442711701,2
--50234339(+) TTTCTA/GAAACG 1 -- int10--------
rs1872178491,2
--50234356(+) AATCAC/TGAGTC 1 -- int10--------
rs619599161,2
C,F--50234407(+) TTCTCT/CCAATT 1 -- int16Minor allele frequency- C:0.18NA WA EA 364
rs80000311,2
C,H--50234432(+) GGCATG/ACATTT 1 -- int114Minor allele frequency- A:0.00NA WA CSA EA 381
rs1908073481,2
--50234479(+) ACTCTC/TCCTGT 1 -- int10--------
rs1808509281,2
--50234658(+) TTTGGC/GTTCAC 1 -- int10--------
rs1854357831,2
--50234685(+) AAATAC/TAAAAA 1 -- int10--------
rs1473817891,2
--50234696(+) CAGAAA/GCTTTC 1 -- int10--------
rs95352841,2
C,F--50234796(+) TTAATA/GTAACA 1 -- int15Minor allele frequency- G:0.14NA WA 244
rs1901935421,2
--50234936(+) AACAAC/TAATAC 1 -- ut310--------

HapMap Linkage Disequilibrium report for EBPL (50234810 - 50265623 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for EBPL:    About this table    
Variant IDTypeSubtypePubMed ID
nsv900071CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing EBPL
DNA2.0 Custom Variant and Variant Library Synthesis for EBPL

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for EBPL gene integrated from 10 sources:
(articles sorted by number of sources associating them with EBPL)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. (PubMed id 12760743)1, 2, 9 Moebius F.F....Glossmann H. (Biochem. J. 2003)
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  3. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
  4. Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects. (PubMed id 16806233)1 Ma J....Liew C.C. (Atherosclerosis 2007)
  5. Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. (PubMed id 16368877)1 Choy K.W....Pang C.P. (Physiol. Genomics 2006)
  6. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (Nature 2004)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  8. Lyme borreliosis spirochete Erp proteins, their known host ligands, and potential roles in mammalian infection. (PubMed id 18248770)9 Brissette C.A....Stevenson B. (Int. J. Med. Microbiol. 2008)
  9. Functional characterization of Borrelia spielmanii outer surface proteins that interact with distinct members of the human factor H protein family and with plasminogen. (PubMed id 19858303)9 Seling A....Kraiczy P. (Infect. Immun. 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 84650 HGNC: 18061 AceView: EBPL Ensembl:ENSG00000123179 euGenes: HUgn84650
ECgene: EBPL H-InvDB: EBPL

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for EBPL Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for EBPL gene:
Search GeneIP for patents involving EBPL

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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