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EBP cDNA ORF clone, Homo sapiens (human)

Gene Symbol EBP
Entrez Gene ID 10682
Full Name emopamil binding protein (sterol isomerase)
Synonyms CDPX2, CHO2, CPX, CPXD
General protein information
Preferred Names
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Names
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
sterol 8-isomerase
D8-D7 sterol isomerase
cholestenol Delta-isomerase
delta(8)-Delta(7) sterol isomerase
emopamil-binding protein (sterol isomerase)
3-beta-hydroxysteroid-delta-8,delta-7-isomerase
Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
NP_006570.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp11.23-p11.22

Summary The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]. lac of sum
Disorder MIM:

300205

Disorder Html: Chondrodysplasia punctata, X-linked dominant, 302960 (3)

mRNA and Protein(s)

mRNA Protein Name
NM_006579 NP_006570 3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase

KEGG
hsa00100 Steroid biosynthesis
hsa01100 Metabolic pathways
hsa_M00101 Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterol
Reactome
R-HSA-1430728 Metabolism
R-HSA-191273 Cholesterol biosynthesis
R-HSA-556833 Metabolism of lipids and lipoproteins
BIOCYC
HUMAN_PWY66-341 cholesterol biosynthesis I
HUMAN_PWY66-3 cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
HUMAN_PWY66-4 cholesterol biosynthesis III (via desmosterol)
HUMAN_PWY66-5 superpathway of cholesterol biosynthesis
META_PWY66-341 cholesterol biosynthesis I
META_PWY66-5 superpathway of cholesterol biosynthesis
META_PWY66-3 cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
META_PWY66-4 cholesterol biosynthesis III (via desmosterol)


Homo sapiens (human) EBP NP_006570.1
Canis lupus familiaris (dog) EBP XP_851024.1
Bos taurus (cattle) EBP NP_001029672.1
Mus musculus (house mouse) Ebp NP_031924.1
Rattus norvegicus (Norway rat) Ebp NP_476478.1
Danio rerio (zebrafish) ebp NP_001002328.1
Arabidopsis thaliana (thale cress) HYD1 NP_173433.1

Component

ID Name Evidence
GO:0005783 endoplasmic reticulum IDA
GO:0005789 endoplasmic reticulum membrane TAS
GO:0005792 microsome IEA
GO:0005887 integral to plasma membrane TAS
GO:0016020 membrane IEA

Function

ID Name Evidence
GO:0000247 C-8 sterol isomerase activity IEA
GO:0004769 steroid delta-isomerase activity TAS
GO:0004888 transmembrane receptor activity TAS
GO:0015238 drug transmembrane transporter activity TAS
GO:0016853 isomerase activity IEA
GO:0047750 cholestenol delta-isomerase activity IEA

Process

ID Name Evidence
GO:0001501 skeletal system development TAS
GO:0006695 cholesterol biosynthetic process TAS
GO:0006855 drug transmembrane transport TAS
GO:0008203 cholesterol metabolic process TAS
GO:0030097 hemopoiesis IEA

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The following EBP gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the EBP cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu18817
NM_006579 Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$69.30
$99.00

*Business Day
**You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.


CloneID OHu18817
Accession Version NM_006579.2 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 693bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Structure linear
Update Date 10-MAY-2015
Organism Homo sapiens (human)
Product 3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AU128761.1, CA488777.1, BC001572.1 and BC001549.1. This sequence is a reference standard in the RefSeqGene project. On Mar 13, 2008 this sequence version replaced gi:5729809. Summary: The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil and the photoaffinity label [3H]azidopamil. It is similar to sigma receptors and may be a member of a superfamily of high affinity drug-binding proteins in the endoplasmic reticulum of different tissues. This protein shares structural features with bacterial and eukaryontic drug transporting proteins. It has four putative transmembrane segments and contains two conserved glutamate residues which may be involved in the transport of cationic amphiphilics. Another prominent feature of this protein is its high content of aromatic amino acid residues (>23%) in its transmembrane segments. These aromatic amino acid residues have been suggested to be involved in the drug transport by the P-glycoprotein. Mutations in this gene cause Chondrodysplasia punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome). [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC001549.1, AL559203.3 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
ATGACTACCA ACGCGGGCCC CTTGCACCCA TACTGGCCTC AGCACCTAAG ACTGGACAAC 
TTTGTACCTA ATGACCGCCC CACCTGGCAT ATACTGGCTG GCCTCTTCTC TGTCACAGGG
GTCTTAGTCG TGACCACATG GCTGTTGTCA GGTCGTGCTG CGGTTGTCCC ATTGGGGACT
TGGCGGCGAC TGTCCCTGTG CTGGTTTGCA GTGTGTGGGT TCATTCACCT GGTGATCGAG
GGCTGGTTCG TTCTCTACTA CGAAGACCTG CTTGGAGACC AAGCCTTCTT ATCTCAACTC
TGGAAAGAGT ATGCCAAGGG AGACAGCCGA TACATCCTGG GTGACAACTT CACAGTGTGC
ATGGAAACCA TCACAGCTTG CCTGTGGGGA CCACTCAGCC TGTGGGTGGT GATCGCCTTT
CTCCGCCAGC ATCCCCTCCG CTTCATTCTA CAGCTTGTGG TCTCTGTGGG CCAGATCTAT
GGGGATGTGC TCTACTTCCT GACAGAGCAC CGCGACGGAT TCCAGCACGG AGAGCTGGGC
CACCCTCTCT ACTTCTGGTT TTACTTTGTC TTCATGAATG CCCTGTGGCT GGTGCTGCCT
GGAGTCCTTG TGCTTGATGC TGTGAAGCAC CTCACTCATG CCCAGAGCAC GCTGGATGCC
AAGGCCACAA AAGCCAAGAG CAAGAAGAAC TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeqNP_006570.1
CDS206..898
Misc Feature(1)83..85(+)
Misc Feature(2)209..211(+)
Misc Feature(3)290..352(+)
Misc Feature(4)296..862(+)
Misc Feature(5)401..463(+)
Misc Feature(6)566..628(+)
Misc Feature(7)758..820(+)
Exon (1)1..132
Gene:EBP
Gene Synonym:
Exon (2)133..506
Gene:EBP
Gene Synonym:
Exon (3)507..543
Gene:EBP
Gene Synonym:
Exon (4)544..674
Gene:EBP
Gene Synonym:
Exon (5)675..1157
Gene:EBP
Gene Synonym:
Translation
Position Chain Variation Link
220 220 a, g, t dbSNP:3048
258 258 c, t dbSNP:104894795
281 281 c, t dbSNP:200081935
292 292 a, g dbSNP:104894798
346 346 g, t dbSNP:587783599
387 387 a, g dbSNP:587783600
392 392 c, t dbSNP:104894799
409 409 g, t dbSNP:587783601
419 419 c, t dbSNP:587783602
423 423 a, g dbSNP:587783603
443 443 a, g dbSNP:104894800
497 497 -, tctca dbSNP:587783604
504 504 c, t dbSNP:587783605
508 508 g, t dbSNP:587783607
509 509 a, t dbSNP:587783608
515 515 c, t dbSNP:587783609
516 516 a, g dbSNP:587783610
519 519 a, c dbSNP:587783611
525 525 a, c, g dbSNP:587783612
533 533 c, t dbSNP:587783613
536 536 c, t dbSNP:587783614
587 587 c, t dbSNP:142881014
591 591 a, g dbSNP:104894792
645 645 a, g dbSNP:28935174
669 669 -, ct dbSNP:587783615
685 685 g, t dbSNP:587783616
686 686 a, g dbSNP:587783617
716 716 c, t dbSNP:141925556
728 728 c, t dbSNP:104894793
732 732 a, g dbSNP:587783618
792 792 a, g dbSNP:104894794
837 837 g, t dbSNP:587783619
892 892 -, gaa dbSNP:587783620

Target ORF information:

RefSeq Version NM_006579
Organism Homo sapiens (human)
Definition Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_006579

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
ATGACTACCA ACGCGGGCCC CTTGCACCCA TACTGGCCTC AGCACCTAAG ACTGGACAAC 
TTTGTACCTA ATGACCGCCC CACCTGGCAT ATACTGGCTG GCCTCTTCTC TGTCACAGGG
GTCTTAGTCG TGACCACATG GCTGTTGTCA GGTCGTGCTG CGGTTGTCCC ATTGGGGACT
TGGCGGCGAC TGTCCCTGTG CTGGTTTGCA GTGTGTGGGT TCATTCACCT GGTGATCGAG
GGCTGGTTCG TTCTCTACTA CGAAGACCTG CTTGGAGACC AAGCCTTCTT ATCTCAACTC
TGGAAAGAGT ATGCCAAGGG AGACAGCCGA TACATCCTGG GTGACAACTT CACAGTGTGC
ATGGAAACCA TCACAGCTTG CCTGTGGGGA CCACTCAGCC TGTGGGTGGT GATCGCCTTT
CTCCGCCAGC ATCCCCTCCG CTTCATTCTA CAGCTTGTGG TCTCTGTGGG CCAGATCTAT
GGGGATGTGC TCTACTTCCT GACAGAGCAC CGCGACGGAT TCCAGCACGG AGAGCTGGGC
CACCCTCTCT ACTTCTGGTT TTACTTTGTC TTCATGAATG CCCTGTGGCT GGTGCTGCCT
GGAGTCCTTG TGCTTGATGC TGTGAAGCAC CTCACTCATG CCCAGAGCAC GCTGGATGCC
AAGGCCACAA AAGCCAAGAG CAAGAAGAAC TGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene
Am. J. Med. Genet. A 164A (4), 907-914 (2014)
Hartill VL, Tysoe C, Manning N, Dobbie A, Santra S, Walter J, Caswell R, Koster J, Waterham H and Hobson E.


book

Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Delta8,7-sterol isomerase in cholesterol biosynthesis
Arch. Pharm. (Weinheim) 347 (2), 108-122 (2014)
Krojer M, Muller C and Bracher F.


book

Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin
Biochemistry 52 (44), 7731-7741 (2013)
Miao M, Reichheld SE, Muiznieks LD, Huang Y and Keeley FW.


book

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature
Br. J. Dermatol. 166 (4), 830-838 (2012)
Canueto J, Giros M, Ciria S, Pi-Castan G, Artigas M, Garcia-Dorado J, Garcia-Patos V, Viros A, Vendrell T, Torrelo A, Hernandez-Martin A, Martin-Hernandez E, Garcia-Silva MT, Fernandez-Burriel M, Rosell J, Tejedor M, Martinez F, Valero J, Garcia JL, Sanchez-Tapia EM, Unamuno P and Gonzalez-Sarmiento R.


book

Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation
Arch Dermatol 147 (9), 1073-1076 (2011)
Morice-Picard F, Kostrzewa E, Wolf C, Benlian P, Taieb A and Lacombe D.


book

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com
Nat. Genet. 22 (3), 286-290 (1999)
Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y and Herman GE.


book

Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization
Biochemistry 38 (3), 1119-1127 (1999)
Moebius FF, Soellner KE, Fiechtner B, Huck CW, Bonn G and Glossmann H.


book

Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval
Genome Res. 6 (11), 1056-1069 (1996)
Schindelhauer D, Hellebrand H, Grimm L, Bader I, Meitinger T, Wehnert M, Ross M and Meindl A.


book

Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression
J. Biol. Chem. 270 (13), 7551-7557 (1995)
Hanner M, Moebius FF, Weber F, Grabner M, Striessnig J and Glossmann H.


book

Chondrodysplasia Punctata 2, X-Linked
(in) Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Dempsey,M.A., Tan,C. and Herman,G.E.


 
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