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Protein

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

Gene

Ebp

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.
UniPathwayiUPA00063.

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.
ExpressionAtlasiP70245. baseline and differential.
GenevisibleiP70245. MM.

Interactioni

Protein-protein interaction databases

BioGridi199362. 1 interactor.
MINTiMINT-1853727.
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.

Sequencei

Sequence statusi: Complete.

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

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

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

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 27, 2017
This is version 139 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. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. SIMILARITY comments
    Index of protein domains and families