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Protein

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

Gene

Ebp

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the conversion of Delta8-sterols to their corresponding Delta7-isomers.1 Publication

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.1 Publication

Pathwayi: cholesterol biosynthesis

This protein is involved in the pathway cholesterol biosynthesis, which is part of Steroid biosynthesis.1 Publication
View all proteins of this organism that are known to be involved in the pathway cholesterol biosynthesis and in Steroid biosynthesis.

GO - Molecular functioni

GO - Biological processi

  • cholesterol biosynthetic process Source: MGI
  • hemopoiesis Source: MGI
  • sterol biosynthetic process Source: MGI

Keywordsi

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

Enzyme and pathway databases

BRENDAi5.3.3.5 3474
ReactomeiR-MMU-6807047 Cholesterol biosynthesis via desmosterol
R-MMU-6807062 Cholesterol biosynthesis via lathosterol
UniPathwayi
UPA00063

Chemistry databases

SwissLipidsiSLP:000001210

Names & Taxonomyi

Protein namesi
Recommended name:
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase (EC:5.3.3.51 Publication)
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
Synonyms:Msi
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome X

Organism-specific databases

MGIiMGI:107822 Ebp

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

Defects in Ebp are a cause of 'Tattered' (Td) which is an X-linked, semidominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults. Craniofacial anomalies and twisted toes have also been observed in some affected females.

Keywords - Diseasei

Disease mutation

Chemistry databases

ChEMBLiCHEMBL3774293

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00001743432 – 2303-beta-hydroxysteroid-Delta(8),Delta(7)-isomeraseAdd BLAST229

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylthreonine1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP70245
MaxQBiP70245
PaxDbiP70245
PeptideAtlasiP70245
PRIDEiP70245

PTM databases

iPTMnetiP70245
PhosphoSitePlusiP70245

Expressioni

Gene expression databases

BgeeiENSMUSG00000031168 Expressed in 285 organ(s), highest expression level in liver
ExpressionAtlasiP70245 baseline and differential
GenevisibleiP70245 MM

Interactioni

Protein-protein interaction databases

BioGridi199362, 1 interactor
STRINGi10090.ENSMUSP00000033509

Structurei

3D structure databases

ProteinModelPortaliP70245
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
InParanoidiP70245
KOiK01824
OMAiSPLHPYW
OrthoDBiEOG091G0KCI
PhylomeDBiP70245
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 1 potential isoform that is computationally mapped.Show allAlign All

P70245-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTTNTVPLHP YWPRHLKLDN FVPNDLPTSH ILVGLFSISG GLIVITWLLS
60 70 80 90 100
SRASVVPLGA GRRLALCWFA VCTFIHLVIE GWFSLYNGIL LEDQAFLSQL
110 120 130 140 150
WKEYSKGDSR YILSDSFVVC METVTACLWG PLSLWVVIAF LRQQPFRFVL
160 170 180 190 200
QLVVSMGQIY GDVLYFLTEL HEGLQHGEIG HPVYFWFYFV FLNAVWLVIP
210 220 230
SILVLDAIKH LTSAQSVLDS KVMKIKSKHN
Length:230
Mass (Da):26,215
Last modified:January 23, 2007 - v3
Checksum:i26752EEE59F098A7
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2AC29A2AC29_MOUSE
3-beta-hydroxysteroid-Delta(8),Delt...
Ebp
121Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti107G → R in Td. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X97755 mRNA Translation: CAA66350.1
AK012266 mRNA Translation: BAB28129.1
AK027977 mRNA Translation: BAC25686.1
BC004703 mRNA Translation: AAH04703.1
BC004620 mRNA Translation: AAH04620.1
CCDSiCCDS29989.1
RefSeqiNP_031924.1, NM_007898.3
UniGeneiMm.27183

Genome annotation databases

EnsembliENSMUST00000033509; ENSMUSP00000033509; ENSMUSG00000031168
GeneIDi13595
KEGGimmu:13595
UCSCiuc009soi.1 mouse

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X97755 mRNA Translation: CAA66350.1
AK012266 mRNA Translation: BAB28129.1
AK027977 mRNA Translation: BAC25686.1
BC004703 mRNA Translation: AAH04703.1
BC004620 mRNA Translation: AAH04620.1
CCDSiCCDS29989.1
RefSeqiNP_031924.1, NM_007898.3
UniGeneiMm.27183

3D structure databases

ProteinModelPortaliP70245
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi199362, 1 interactor
STRINGi10090.ENSMUSP00000033509

Chemistry databases

ChEMBLiCHEMBL3774293
SwissLipidsiSLP:000001210

PTM databases

iPTMnetiP70245
PhosphoSitePlusiP70245

Proteomic databases

EPDiP70245
MaxQBiP70245
PaxDbiP70245
PeptideAtlasiP70245
PRIDEiP70245

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000033509; ENSMUSP00000033509; ENSMUSG00000031168
GeneIDi13595
KEGGimmu:13595
UCSCiuc009soi.1 mouse

Organism-specific databases

CTDi10682
MGIiMGI:107822 Ebp

Phylogenomic databases

eggNOGiKOG4826 Eukaryota
ENOG41101ES LUCA
GeneTreeiENSGT00530000063715
HOGENOMiHOG000204543
HOVERGENiHBG018176
InParanoidiP70245
KOiK01824
OMAiSPLHPYW
OrthoDBiEOG091G0KCI
PhylomeDBiP70245
TreeFamiTF314716

Enzyme and pathway databases

UniPathwayi
UPA00063

BRENDAi5.3.3.5 3474
ReactomeiR-MMU-6807047 Cholesterol biosynthesis via desmosterol
R-MMU-6807062 Cholesterol biosynthesis via lathosterol

Miscellaneous databases

PROiPR:P70245
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000031168 Expressed in 285 organ(s), highest expression level in liver
ExpressionAtlasiP70245 baseline and differential
GenevisibleiP70245 MM

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_MOUSE
AccessioniPrimary (citable) accession number: P70245
Secondary accession number(s): Q9CSP4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: January 23, 2007
Last modified: September 12, 2018
This is version 142 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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