EBP cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	EBP
Entrez Gene ID	10682
Full Name	emopamil binding protein (sterol isomerase)
Synonyms	CDPX2,CHO2,CPX,CPXD,MEND
General protein information	Preferred Names emopamil binding protein (sterol isomerase) Names 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 3-beta-hydroxysteroid-delta-8,delta-7-isomerase Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome) D8-D7 sterol isomerase cholestenol Delta-isomerase delta(8)-Delta(7) sterol isomerase emopamil-binding protein sterol 8-isomerase
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: X Map Location: Xp11.23
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].
Disorder MIM:	300205
Disorder Html:	Chondrodysplasia punctata, X-linked dominant, 302960 (3); MEND syndrome, 300960 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_006579.2	NP_006570.1	3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase
NM_006579.3	NP_006570.1	3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase

Pathways from BioSystems

Homologies

Oryza sativa (rice)	Os01g0103600	NP_001041757.1
Bos taurus (cattle)	EBP	NP_001029672.1
Rattus norvegicus (Norway rat)	Ebp	NP_476478.1
Magnaporthe oryzae (rice blast fungus)	MGG_04574	XP_003713603.1
Homo sapiens (human)	EBP	NP_006570.1
Canis lupus familiaris (dog)	EBP	XP_851024.1
Mus musculus (house mouse)	Ebp	NP_031924.1
Danio rerio (zebrafish)	ebp	NP_001002328.1
Arabidopsis thaliana (thale cress)	HYD1	NP_173433.1

Gene Ontology
Bibliography

Related articles in PubMed

Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J, Yang F, Peng J, Weile J, Karras GI, Wang Y, Kov?cs IA, Kamburov A, Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A, Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ, Sunyaev S, Berger B, Barab?si AL, Charloteaux B, Hill DE, Hao T, Roth FP, Xia Y, Walhout AJM, Lindquist S, Vidal M
Cell161(3)647-660(2015 Apr)

Conradi-H?nermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
Lambrecht C, Wouters C, Van Esch H, Moens P, Casteels I, Morren MA
Pediatric dermatology31(4)493-6(2014 Jul-Aug)

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
Barboza-Cerda MC, Wong LJ, Mart?nez-de-Villarreal LE, Zhang VW, D?ctor MA
American journal of medical genetics. Part A164A(7)1642-7(2014 Jul)

Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme ?8,7-sterol isomerase in cholesterol biosynthesis.
Krojer M, M?ller C, Bracher F
Archiv der Pharmazie347(2)108-22(2014 Feb)

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

Mutation analysis revealed a heterozygous novel missense mutation, c.204G>T (p.W68C), in exon 2.
Title: Conradi-H?nermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).

This study expands the current phenotypic spectrum of males with hypomorphic EBP mutations and supports to the hypothesis that there exists an X-linked recessive entity independent of CDPX2.
Title: A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.

With non-mosaic EBP mutations in males.
Title: An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

Report steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Delta8,7-sterol isomerase in cholesterol biosynthesis.
Title: Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme ?8,7-sterol isomerase in cholesterol biosynthesis.

Elastin binding protein and FKBP65 modulate the kinetics of self-assembly of tropoelastin in an in vitro system.
Title: Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin.

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	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu18817	NM_006579.3 Latest version!	Homo sapiens EBP cholestenol delta-isomerase (EBP), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
View Old Accession Versions >>
OHu18817	NM_006579.2	Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$49.50-$69.30 $99.00
Hide Old Accession Versions >>

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

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

EBP ( NM_006579.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_006570.1 Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA.

Price & Availability↑

CloneID	OHu18817
Clone ID Related Accession (Same CDS sequence)	NM_006579.2 , NM_006579.3
Accession Version	NM_006579.2	Documents for ORF clone product in default 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
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2017-12-26
Organism	Homo sapiens(human)
Product	3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase
Comment	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 NM_006579.1. 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 :: SRR1163655.496345.1, SRR1163655.379650.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

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.

RefSeq	NP_006570.1
CDS	206..898
Translation	MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN

Target ORF information:

RefSeq Version	NM_006579.2
Organism	Homo sapiens(human)
Definition	Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_006579.2

ORF Insert Sequence:

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.

EBP ( NM_006579.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_006570.1 Homo sapiens EBP cholestenol delta-isomerase (EBP), mRNA.

Price & Availability↑

CloneID	OHu18817
Clone ID Related Accession (Same CDS sequence)	NM_006579.2 , NM_006579.3
Accession Version	NM_006579.3 Latest version!	Documents for ORF clone product in default 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
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-08-21
Organism	Homo sapiens(human)
Product	3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CA488777.1, BC001572.1 and BC001549.1. This sequence is a reference standard in the RefSeqGene project. On Nov 23, 2018 this sequence version replaced NM_006579.2. 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 :: SRR5189652.191296.1, SRR5189658.116351.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000495186.6/ ENSP00000417052.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: full length.

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.

RefSeq	NP_006570.1
CDS	174..866
Translation	MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN

Target ORF information:

RefSeq Version	NM_006579.3
Organism	Homo sapiens(human)
Definition	Homo sapiens EBP cholestenol delta-isomerase (EBP), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_006579.3

ORF Insert Sequence:

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.

PubMed

Widespread macromolecular interaction perturbations in human genetic disorders.
Cell161(3)647-660(2015 Apr)
Sahni N,Yi S,Taipale M,Fuxman Bass JI,Coulombe-Huntington J,Yang F,Peng J,Weile J,Karras GI,Wang Y,Kov?cs IA,Kamburov A,Krykbaeva I,Lam MH,Tucker G,Khurana V,Sharma A,Liu YY,Yachie N,Zhong Q,Shen Y,Palagi A,San-Miguel A,Fan C,Balcha D,Dricot A,Jordan DM,Walsh JM,Shah AA,Yang X,Stoyanova AK,Leighton A,Calderwood MA,Jacob Y,Cusick ME,Salehi-Ashtiani K,Whitesell LJ,Sunyaev S,Berger B,Barab?si AL,Charloteaux B,Hill DE,Hao T,Roth FP,Xia Y,Walhout AJM,Lindquist S,Vidal M

Conradi-H?nermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
Pediatric dermatology31(4)493-6(2014 Jul-Aug)
Lambrecht C,Wouters C,Van Esch H,Moens P,Casteels I,Morren MA

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
American journal of medical genetics. Part A164A(7)1642-7(2014 Jul)
Barboza-Cerda MC,Wong LJ,Mart?nez-de-Villarreal LE,Zhang VW,D?ctor MA

Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme ?8,7-sterol isomerase in cholesterol biosynthesis.
Archiv der Pharmazie347(2)108-22(2014 Feb)
Krojer M,M?ller C,Bracher F

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EBP cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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