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Protein

3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

Gene

EBP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the conversion of Delta8-sterols to their corresponding Delta7-isomers.3 Publications

Miscellaneous

Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug.

Catalytic activityi

5-alpha-cholest-7-en-3-beta-ol = 5-alpha-cholest-8-en-3-beta-ol.3 Publications

Pathwayi: cholesterol biosynthesis

This protein is involved in the pathway cholesterol biosynthesis, which is part of Steroid biosynthesis.3 Publications
View all proteins of this organism that are known to be involved in the pathway cholesterol biosynthesis and in Steroid biosynthesis.

GO - Molecular functioni

  • C-8 sterol isomerase activity Source: GO_Central
  • cholestenol delta-isomerase activity Source: UniProtKB-EC
  • drug transmembrane transporter activity Source: ProtInc
  • steroid delta-isomerase activity Source: UniProtKB
  • transmembrane signaling receptor activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionIsomerase
Biological processCholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000147155-MONOMER
BRENDAi5.3.3.5 2681
ReactomeiR-HSA-6807047 Cholesterol biosynthesis via desmosterol
R-HSA-6807062 Cholesterol biosynthesis via lathosterol
SABIO-RKiQ15125
UniPathwayi
UPA00063

Chemistry databases

SwissLipidsiSLP:000001209

Names & Taxonomyi

Protein namesi
Recommended name:
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase (EC:5.3.3.53 Publications)
Alternative name(s):
Cholestenol Delta-isomerase
Delta(8)-Delta(7) sterol isomerase
Short name:
D8-D7 sterol isomerase
Emopamil-binding protein
Gene namesi
Name:EBP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000147155.10
HGNCiHGNC:3133 EBP
MIMi300205 gene
neXtProtiNX_Q15125

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei29 – 49HelicalSequence analysisAdd BLAST21
Transmembranei66 – 86HelicalSequence analysisAdd BLAST21
Transmembranei121 – 141HelicalSequence analysisAdd BLAST21
Transmembranei185 – 205HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasmic vesicle, Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Chondrodysplasia punctata 2, X-linked dominant (CDPX2)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues.
See also OMIM:302960
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01210580E → K in CDPX2. 1 PublicationCorresponds to variant dbSNP:rs104894800EnsemblClinVar.1
Natural variantiVAR_074637103E → K in CDPX2. 1 Publication1
Natural variantiVAR_012106110R → Q in CDPX2. 1 Publication1
Natural variantiVAR_012107147R → G in CDPX2. 1 Publication1
Natural variantiVAR_012108147R → H in CDPX2. 3 PublicationsCorresponds to variant dbSNP:rs28935174EnsemblClinVar.1
MEND syndrome (MEND)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
See also OMIM:300960
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07463318L → P in MEND; patients have mildly increased concentrations of plasma 8(9)-cholestenol and 8-dehydrocholesterol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs104894795EnsemblClinVar.1
Natural variantiVAR_07463447W → C in MEND; patients have increased concentrations of plasma 8(9)-cholestenol, 8-dehydrocholesterol and 7-dehydrocholesterol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs587783599EnsemblClinVar.1
Natural variantiVAR_07463547W → R in MEND; patients have increased concentrations of plasma 8-dehydrocholesterol and 8(9)-cholestenol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs878854359EnsemblClinVar.1
Natural variantiVAR_07463675I → N in MEND; patients have increased plasma levels of 8(9)-cholestenol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs797045153EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi68W → A: Reduces catalytic activity to less than 35% of wild-type. 1 Publication1
Mutagenesisi75I → A: Reduces catalytic activity to less than 35% of wild-type. 1 Publication1
Mutagenesisi76H → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1
Mutagenesisi80E → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1
Mutagenesisi111Y → W: Reduces catalytic activity to less than 2% of wild-type. 1 Publication1
Mutagenesisi121M → A: Reduces catalytic activity to less than 35% of wild-type. 1 Publication1
Mutagenesisi121M → V: No effect on catalytic activity. 1 Publication1
Mutagenesisi122E → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1
Mutagenesisi125T → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1
Mutagenesisi188Y → A: Reduces catalytic activity to less than 35% of wild-type. 1 Publication1
Mutagenesisi189F → A: Reduces catalytic activity to less than 35% of wild-type. 1 Publication1
Mutagenesisi189F → L: No effect on catalytic activity. 1 Publication1
Mutagenesisi193N → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1
Mutagenesisi196W → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1

Keywords - Diseasei

Cataract, Disease mutation, Dwarfism, Ichthyosis

Organism-specific databases

DisGeNETi10682
GeneReviewsiEBP
MalaCardsiEBP
MIMi300960 phenotype
302960 phenotype
OpenTargetsiENSG00000147155
Orphaneti352487 Digital anomalies-intellectual disability-short stature syndrome
401973 MEND syndrome
35173 X-linked dominant chondrodysplasia punctata
PharmGKBiPA27587

Chemistry databases

ChEMBLiCHEMBL4931
DrugBankiDB00675 Tamoxifen

Polymorphism and mutation databases

BioMutaiEBP
DMDMi17374795

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001743422 – 2303-beta-hydroxysteroid-Delta(8),Delta(7)-isomeraseAdd BLAST229

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylthreonineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ15125
MaxQBiQ15125
PaxDbiQ15125
PeptideAtlasiQ15125
PRIDEiQ15125
ProteomicsDBi60452
TopDownProteomicsiQ15125

PTM databases

iPTMnetiQ15125
PhosphoSitePlusiQ15125

Expressioni

Gene expression databases

BgeeiENSG00000147155 Expressed in 231 organ(s), highest expression level in testis
CleanExiHS_EBP
ExpressionAtlasiQ15125 baseline and differential
GenevisibleiQ15125 HS

Organism-specific databases

HPAiHPA003130

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi115921, 40 interactors
IntActiQ15125, 162 interactors
STRINGi9606.ENSP00000417052

Chemistry databases

BindingDBiQ15125

Structurei

3D structure databases

ProteinModelPortaliQ15125
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini61 – 204EXPERAPROSITE-ProRule annotationAdd BLAST144

Sequence similaritiesi

Belongs to the EBP family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4826 Eukaryota
ENOG41101ES LUCA
GeneTreeiENSGT00530000063715
HOGENOMiHOG000204543
HOVERGENiHBG018176
InParanoidiQ15125
KOiK01824
OMAiSPLHPYW
OrthoDBiEOG091G0KCI
PhylomeDBiQ15125
TreeFamiTF314716

Family and domain databases

InterProiView protein in InterPro
IPR007905 EBP
IPR033118 EXPERA
PANTHERiPTHR14207 PTHR14207, 1 hit
PfamiView protein in Pfam
PF05241 EBP, 1 hit
PROSITEiView protein in PROSITE
PS51751 EXPERA, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q15125-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTTNAGPLHP YWPQHLRLDN FVPNDRPTWH ILAGLFSVTG VLVVTTWLLS
60 70 80 90 100
GRAAVVPLGT WRRLSLCWFA VCGFIHLVIE GWFVLYYEDL LGDQAFLSQL
110 120 130 140 150
WKEYAKGDSR YILGDNFTVC METITACLWG PLSLWVVIAF LRQHPLRFIL
160 170 180 190 200
QLVVSVGQIY GDVLYFLTEH RDGFQHGELG HPLYFWFYFV FMNALWLVLP
210 220 230
GVLVLDAVKH LTHAQSTLDA KATKAKSKKN
Length:230
Mass (Da):26,353
Last modified:January 23, 2007 - v3
Checksum:i3931A9DE3DBAFA04
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JJ78C9JJ78_HUMAN
3-beta-hydroxysteroid-Delta(8),Delt...
EBP
160Annotation score:
C9J719C9J719_HUMAN
3-beta-hydroxysteroid-Delta(8),Delt...
EBP
145Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti187 – 188FY → IF in CAG33096 (Ref. 2) Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07463318L → P in MEND; patients have mildly increased concentrations of plasma 8(9)-cholestenol and 8-dehydrocholesterol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs104894795EnsemblClinVar.1
Natural variantiVAR_07463447W → C in MEND; patients have increased concentrations of plasma 8(9)-cholestenol, 8-dehydrocholesterol and 7-dehydrocholesterol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs587783599EnsemblClinVar.1
Natural variantiVAR_07463547W → R in MEND; patients have increased concentrations of plasma 8-dehydrocholesterol and 8(9)-cholestenol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs878854359EnsemblClinVar.1
Natural variantiVAR_07463675I → N in MEND; patients have increased plasma levels of 8(9)-cholestenol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs797045153EnsemblClinVar.1
Natural variantiVAR_01210580E → K in CDPX2. 1 PublicationCorresponds to variant dbSNP:rs104894800EnsemblClinVar.1
Natural variantiVAR_074637103E → K in CDPX2. 1 Publication1
Natural variantiVAR_012106110R → Q in CDPX2. 1 Publication1
Natural variantiVAR_012107147R → G in CDPX2. 1 Publication1
Natural variantiVAR_012108147R → H in CDPX2. 3 PublicationsCorresponds to variant dbSNP:rs28935174EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z37986 mRNA Translation: CAA86068.1
CR456815 mRNA Translation: CAG33096.1
CR542094 mRNA Translation: CAG46891.1
AF196969 Genomic DNA No translation available.
AF196972 Genomic DNA No translation available.
CH471224 Genomic DNA Translation: EAW50773.1
BC001549 mRNA Translation: AAH01549.1
BC001572 mRNA Translation: AAH01572.1
BC046501 mRNA Translation: AAH46501.1
CCDSiCCDS14300.1
PIRiB56122
RefSeqiNP_006570.1, NM_006579.2
UniGeneiHs.30619

Genome annotation databases

EnsembliENST00000495186; ENSP00000417052; ENSG00000147155
GeneIDi10682
KEGGihsa:10682
UCSCiuc004djx.5 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z37986 mRNA Translation: CAA86068.1
CR456815 mRNA Translation: CAG33096.1
CR542094 mRNA Translation: CAG46891.1
AF196969 Genomic DNA No translation available.
AF196972 Genomic DNA No translation available.
CH471224 Genomic DNA Translation: EAW50773.1
BC001549 mRNA Translation: AAH01549.1
BC001572 mRNA Translation: AAH01572.1
BC046501 mRNA Translation: AAH46501.1
CCDSiCCDS14300.1
PIRiB56122
RefSeqiNP_006570.1, NM_006579.2
UniGeneiHs.30619

3D structure databases

ProteinModelPortaliQ15125
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115921, 40 interactors
IntActiQ15125, 162 interactors
STRINGi9606.ENSP00000417052

Chemistry databases

BindingDBiQ15125
ChEMBLiCHEMBL4931
DrugBankiDB00675 Tamoxifen
SwissLipidsiSLP:000001209

PTM databases

iPTMnetiQ15125
PhosphoSitePlusiQ15125

Polymorphism and mutation databases

BioMutaiEBP
DMDMi17374795

Proteomic databases

EPDiQ15125
MaxQBiQ15125
PaxDbiQ15125
PeptideAtlasiQ15125
PRIDEiQ15125
ProteomicsDBi60452
TopDownProteomicsiQ15125

Protocols and materials databases

DNASUi10682
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000495186; ENSP00000417052; ENSG00000147155
GeneIDi10682
KEGGihsa:10682
UCSCiuc004djx.5 human

Organism-specific databases

CTDi10682
DisGeNETi10682
EuPathDBiHostDB:ENSG00000147155.10
GeneCardsiEBP
GeneReviewsiEBP
HGNCiHGNC:3133 EBP
HPAiHPA003130
MalaCardsiEBP
MIMi300205 gene
300960 phenotype
302960 phenotype
neXtProtiNX_Q15125
OpenTargetsiENSG00000147155
Orphaneti352487 Digital anomalies-intellectual disability-short stature syndrome
401973 MEND syndrome
35173 X-linked dominant chondrodysplasia punctata
PharmGKBiPA27587
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4826 Eukaryota
ENOG41101ES LUCA
GeneTreeiENSGT00530000063715
HOGENOMiHOG000204543
HOVERGENiHBG018176
InParanoidiQ15125
KOiK01824
OMAiSPLHPYW
OrthoDBiEOG091G0KCI
PhylomeDBiQ15125
TreeFamiTF314716

Enzyme and pathway databases

UniPathwayi
UPA00063

BioCyciMetaCyc:ENSG00000147155-MONOMER
BRENDAi5.3.3.5 2681
ReactomeiR-HSA-6807047 Cholesterol biosynthesis via desmosterol
R-HSA-6807062 Cholesterol biosynthesis via lathosterol
SABIO-RKiQ15125

Miscellaneous databases

ChiTaRSiEBP human
GenomeRNAii10682
PROiPR:Q15125
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000147155 Expressed in 231 organ(s), highest expression level in testis
CleanExiHS_EBP
ExpressionAtlasiQ15125 baseline and differential
GenevisibleiQ15125 HS

Family and domain databases

InterProiView protein in InterPro
IPR007905 EBP
IPR033118 EXPERA
PANTHERiPTHR14207 PTHR14207, 1 hit
PfamiView protein in Pfam
PF05241 EBP, 1 hit
PROSITEiView protein in PROSITE
PS51751 EXPERA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiEBP_HUMAN
AccessioniPrimary (citable) accession number: Q15125
Secondary accession number(s): Q6FGL3, Q6IBI9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 166 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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