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EBPL Gene

protein-coding   GIFtS: 44

GC13M049132
emopamil binding protein-like
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
EBRP 1, 2, 3
ERP 3
Descriptions
Emopamil-binding-related protein 3
emopamil binding protein-like 2
emopamil binding related protein, delta8-delta7 sterol
isomerase 2
emopamil binding related protein, delta8-delta7 sterol
isomerase related protein 2
External Ids
HGNC: 180611
Entrez Gene: 846502
UniProtKB: Q9BY083
Ensembl: ENSG000001231797
Search outside databases for aliases for EBPL gene

Previous GC identifer: GC13M048033

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the EBPL gene  

Entrez Gene cytogenetic band: 13q12-q13   Ensembl cytogenetic band:  13q14.3   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)

GeneLoc gene densities for chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M049132:     (about GC identifiers)

Start:
49,132,860 bp from pter
End:
49,163,612 bp from pter
Size:
30,753 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000013.9  NT_024524.13  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: EBPL_HUMAN, Q9BY08 (See protein sequence)
Recommended Name: Emopamil-binding protein-like  
Size: 206 amino acids; 23204 Da
Subunit: Homodimer
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: A6NJ59 Q569H7 Q5JVN2 Q5JVN3 Q5JVN4 Q5JVN5 Q5JVN6
Alternative splicing: 5 isoforms:  Q9BY08-1   Q9BY08-2   Q9BY08-3   Q9BY08-4   Q9BY08-5   

REFSEQ proteins: NP_115954.1  

ENSEMBL proteins: 
ENSP00000367533 ENSP00000367523 ENSP00000367516 ENSP00000367521 ENSP00000367531 ENSP00000242827 
ENSP00000367519 


Human Recombinant Proteins 
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Browse Abnova for Human Recombinant Proteins
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005783 endoplasmic reticulum IEA--
GO:0005789 endoplasmic reticulum membrane IEA--
GO:0016020 membrane IEA--
GO:0016021 integral to membrane IEA--
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Antibodies for EBPL: 
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
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Assays for EBPL: 
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Browse Kits and Assays available from Millipore
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Browse biochemical assays available from Enzo Life Sciences

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


   GeneDecks  EBPL for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9BY08

ProtoNet protein and cluster: Q9BY08

1 Blocks protein family: IPB007905 Emopamil-binding

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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (EBPL)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_032565

              Applied Biosystems Silencer® siRNAs for EBPL

              Sigma-Aldrich siRNA for EBPL  
                     Sigma-Aldrich shRNA for EBPL  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_032565
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_032565
                                 untagged cDNA clone in CMV expression vector: NM_032565 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_032565

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

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0047750 cholestenol delta-isomerase activity IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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  --

1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0016125 sterol metabolic process IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for EBPL

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (EBPL)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_032565

              Sigma-Aldrich siRNA for EBPL  
                     Sigma-Aldrich shRNA for EBPL  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_032565  

REFSEQ mRNAs for EBPL gene: 

NM_032565.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_032565  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_032565
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_032565
                                 untagged cDNA clone in CMV expression vector: NM_032565 

Additional cDNA sequence: 

AF243433.1 BC018478.1 BC021021.1 BC073152.1 BC092471.1 CR618798.1 

6 DOTS entries:

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

24/127 AceView cDNA sequences (see all 127 ):

BM818148 AW072623 AI092626 AI753314 BC018478 BU675037 CK823462 BU184000 
BC073152 BC021021 AI312792 AW316565 AW673757 N53927 AA777740 BQ421972 
CN484996 CR618798 AI470581 BM967207 AW956162 AA340141 AI564542 BX097727 

highest scoring ESTs for EBPL:

BM818148 AA340141 AA373288 AA534641 AA576295 AA677833 AA773847 AA777740 AA825183 AI038946 

Unigene Cluster for EBPL:

Emopamil binding protein-like
Hs.433278  [show with all ESTs]
Unigene Representative Sequence: BM467066


GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for EBPL (see all 8 )

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

About this scheme

ECgene alternative splicing isoforms for EBPL

7 Ensembl transcripts including schematic representations:
ENST00000378284  ENST00000378274  ENST00000378268  ENST00000378272  ENST00000378282  ENST00000242827  
ENST00000378270  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

EBPL expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for EBPL

1 / 2 / 3

3 probe-sets matching EBPL gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

51267_at2, 3 U95-B 2 1.00 0.50 1.00 1.00 AI858023 0.80 0.83 0.82 1

223306_at2, 3 U133-B 2 1.00 0.59 -- -- AF243433 0.80 0.81 0.81 1

223306_at2 U133Plus2 2 1.00 0.59 -- -- -- -- -- -- --
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: AACCAGAATG

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

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for EBPL gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
EBPL1   -- emopamil binding protein-like 82.99(n)
78.06(a)
476910  XM_534113.2  XP_534113.2 
chimpanzee
(Pan troglodytes)
EBPL1   -- emopamil binding protein-like 99.51(n)
99.03(a)
452721  XM_529592.2  XP_529592.2 
cow
(Bos taurus)
EBPL1   -- emopamil binding protein-like 85.44(n)
80.58(a)
512958  XM_590570.3  XP_590570.3 
rat
(Rattus norvegicus)
Ebpl1   -- emopamil binding protein-like 82.35(n)
77.94(a)
361054  XM_341334.3  XP_341335.1 
mouse
(Mus musculus)
Ebpl1, 5 145
emopamil binding protein-like1, 5 81.21(n)1
76.47(a)1
681771  NM_026598.21  NP_080874.11 
 AF2434345  AI8527825  (see all 12)
About this table        Species with no ortholog for EBPL

ENSEMBL Gene Tree for EBPL
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for EBPL gene
EBP2  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/274 NCBI SNPs in EBPL are shown (see all 274 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 50)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 13 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs65615571,2
A,C,F,H49163811(+) CCATGG/AAGGTT 1 -- ng314Minor allele frequency- A:0.23EU EA WA 412
rs95353011,2
A,C,F,H49164203(+) TTTAAC/TCtgtg 1 -- ng3112Minor allele frequency- T:0.12EU EA WA 1258
rs38093251,2
A,C,F,H49164110(-) TTGTCA/GGAGTA 1 -- ng3112Minor allele frequency- G:0.37EU EA WA 1256
rs95683091,2
A,C,H49164249(+) aactgT/Cttcag 1 -- ng314Minor allele frequency- C:0.00EU EA WA 418
--
rs65615561,2
A,C49163748(+) GATTCC/TGTGCC 1 -- ng310--------
--
rs73375241,2
A,C49163749(+) ATTCCC/GTGCCC 1 -- ng310--------
--
rs49416541,2
C49163924(+) GTTTCA/GCTTTT 1 -- ng310--------
--
rs73210731,2
C49165039(+) accttA/Ctccct 1 -- ng31 trp30--------
--
rs80015671,2
C49164459(+) tactcC/Gggagg 1 -- ng310--------
--
rs80000311,2
C49132433(+) GGCATA/GCATTT 1 -- ng510--------
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HapMap Linkage Disequilibrium images for EBPL (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

  --

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

6 PubMed articles for EBPL gene:
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 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, and/or H-InvDB)
About This Section

Entrez Gene: 84650 HGNC: 18061 AceView: EBPL Ensembl:ENSG00000123179 euGenes: HUgn84650
ECgene: EBPL H-InvDB: EBPL
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for EBPL:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for EBPL-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for EBPL Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for EBPL Browse small molecules at Sigma-Aldrich
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 Search Novus for antibodies for EBPL

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