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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 Delta(8)-sterols to their corresponding Delta(7)-isomers.

Catalytic activityi

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

Pathwayi: cholesterol biosynthesis

This protein is involved in the pathway cholesterol biosynthesis, which is part of Steroid biosynthesis.
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: MGI
  • cholestenol delta-isomerase activity Source: UniProtKB-EC

GO - Biological processi

  • cholesterol biosynthetic process Source: UniProtKB-UniPathway
  • hemopoiesis Source: MGI
  • sterol biosynthetic process Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Isomerase

Keywords - Biological processi

Cholesterol 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

SwissLipidsiSLP:000001210.

Names & Taxonomyi

Protein namesi
Recommended name:
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase (EC:5.3.3.5)
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome X

Organism-specific databases

MGIiMGI:107822. Ebp.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei29 – 4921HelicalSequence analysisAdd
BLAST
Transmembranei66 – 8621HelicalSequence analysisAdd
BLAST
Transmembranei121 – 14121HelicalSequence analysisAdd
BLAST
Transmembranei185 – 20521HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

  • endoplasmic reticulum Source: MGI
  • endoplasmic reticulum membrane Source: MGI
  • integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemoved1 Publication
Chaini2 – 2302293-beta-hydroxysteroid-Delta(8),Delta(7)-isomerasePRO_0000174343Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylthreonine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP70245.
MaxQBiP70245.
PaxDbiP70245.
PRIDEiP70245.

PTM databases

iPTMnetiP70245.
PhosphoSiteiP70245.

Expressioni

Gene expression databases

BgeeiP70245.
ExpressionAtlasiP70245. baseline and differential.
GenevisibleiP70245. MM.

Interactioni

Protein-protein interaction databases

MINTiMINT-1853727.
STRINGi10090.ENSMUSP00000033509.

Structurei

3D structure databases

ProteinModelPortaliP70245.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini61 – 204144EXPERAPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the EBP family.Curated
Contains 1 EXPERA domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4826. Eukaryota.
ENOG41101ES. LUCA.
GeneTreeiENSGT00530000063715.
HOGENOMiHOG000204543.
HOVERGENiHBG018176.
InParanoidiP70245.
KOiK01824.
OMAiYFTTAYL.
OrthoDBiEOG7P5T1W.
PhylomeDBiP70245.
TreeFamiTF314716.

Family and domain databases

InterProiIPR007905. EBP.
IPR033118. EXPERA.
[Graphical view]
PANTHERiPTHR14207. PTHR14207. 1 hit.
PfamiPF05241. EBP. 1 hit.
[Graphical view]
PROSITEiPS51751. EXPERA. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071G → R in Td. 1 Publication

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.

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

MINTiMINT-1853727.
STRINGi10090.ENSMUSP00000033509.

Chemistry

SwissLipidsiSLP:000001210.

PTM databases

iPTMnetiP70245.
PhosphoSiteiP70245.

Proteomic databases

EPDiP70245.
MaxQBiP70245.
PaxDbiP70245.
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.
OMAiYFTTAYL.
OrthoDBiEOG7P5T1W.
PhylomeDBiP70245.
TreeFamiTF314716.

Enzyme and pathway databases

UniPathwayiUPA00063.
BRENDAi5.3.3.5. 3474.
ReactomeiR-MMU-6807047. Cholesterol biosynthesis via desmosterol.
R-MMU-6807062. Cholesterol biosynthesis via lathosterol.

Miscellaneous databases

PROiP70245.
SOURCEiSearch...

Gene expression databases

BgeeiP70245.
ExpressionAtlasiP70245. baseline and differential.
GenevisibleiP70245. MM.

Family and domain databases

InterProiIPR007905. EBP.
IPR033118. EXPERA.
[Graphical view]
PANTHERiPTHR14207. PTHR14207. 1 hit.
PfamiPF05241. EBP. 1 hit.
[Graphical view]
PROSITEiPS51751. EXPERA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast."
    Silve S., Dupuy P.H., Labit-Lebouteiller C., Kaghad M., Chalon P., Rahier A., Taton M., Lupker J., Shire D., Loison G.
    J. Biol. Chem. 271:22434-22440(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: C57BL/6J.
    Tissue: Embryo.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Mammary tumor.
  4. Kanor S., Bienvenut W.V.
    Submitted (OCT-2005) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 2-14; 53-62 AND 210-221, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT THR-2, IDENTIFICATION BY MASS SPECTROMETRY.
    Strain: C57BL/6J.
    Tissue: Liver.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Heart, Kidney, Liver, Lung, Pancreas, Spleen and Testis.
  6. "Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata."
    Derry J.M.J., Gormally E., Means G.D., Zhao W., Meindl A., Kelley R.I., Boyd Y., Herman G.E.
    Nat. Genet. 22:286-290(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TD ARG-107.

Entry informationi

Entry nameiEBP_MOUSE
AccessioniPrimary (citable) accession number: P70245
Secondary accession number(s): Q9CSP4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: January 23, 2007
Last modified: June 8, 2016
This is version 128 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Miscellaneous

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

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.