Reviewed, UniProtKB/Swiss-Prot P70245 (EBP_MOUSE)

Names and origin

Protein names

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 names

Name:	Ebp
Synonyms:	Msi

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

Protein attributes

Sequence length	230 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers.
Catalytic activity	5-alpha-cholest-7-en-3-beta-ol = 5-alpha-cholest-8-en-3-beta-ol.
Pathway	Steroid biosynthesis; cholesterol biosynthesis.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein.
Involvement in disease	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.
Miscellaneous	Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug.
Sequence similarities	Belongs to the EBP family.

Ontologies

Keywords
Biological process	Cholesterol biosynthesis Lipid synthesis Steroid biosynthesis Sterol biosynthesis
Cellular component	Endoplasmic reticulum Membrane
Disease	Disease mutation
Domain	Transmembrane
Molecular function	Isomerase
PTM	Acetylation
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	cholesterol biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW hemopoiesis Inferred from mutant phenotype. Source: MGI
Cellular component	endoplasmic reticulum membrane Ref.1 Traceable author statement. Source: MGI integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	C-8 sterol isomerase activity Ref.1 Ref.5 Inferred from direct assay. Source: MGI cholestenol delta-isomerase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.4
	Chain	2 – 230	229	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase		PRO_0000174343
Regions
	Transmembrane	29 – 49	21	Potential
	Transmembrane	66 – 86	21	Potential
	Transmembrane	121 – 141	21	Potential
	Transmembrane	185 – 205	21	Potential
Amino acid modifications
	Modified residue	2	1	N-acetylthreonine Ref.4
Natural variations
	Natural variant	107	1	G → R in Td. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	P70245-1 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: 26752EEE59F098A7	FASTA	230	26,215
	10 20 30 40 50 60 MTTNTVPLHP YWPRHLKLDN FVPNDLPTSH ILVGLFSISG GLIVITWLLS SRASVVPLGA 70 80 90 100 110 120 GRRLALCWFA VCTFIHLVIE GWFSLYNGIL LEDQAFLSQL WKEYSKGDSR YILSDSFVVC 130 140 150 160 170 180 METVTACLWG PLSLWVVIAF LRQQPFRFVL QLVVSMGQIY GDVLYFLTEL HEGLQHGEIG 190 200 210 220 230 HPVYFWFYFV FLNAVWLVIP SILVLDAIKH LTSAQSVLDS KVMKIKSKHN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 8798407] [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: 16141072] [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: 15489334] [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, MASS SPECTROMETRY. Strain: C57BL/6. Tissue: Liver.
[5]	"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: 10391218] [Abstract] Cited for: VARIANT TD ARG-107.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00137471.
RefSeq	NP_031924.1.
UniGene	Mm.27183
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	P70245.
Proteomic databases
PRIDE	P70245.
Genome annotation databases
Ensembl	ENSMUST00000033509; ENSMUSP00000033509; ENSMUSG00000031168; Mus musculus. [Genome view]
GeneID	13595.
KEGG	mmu:13595.
UCSC	uc009soi.1. mouse.
Organism-specific databases
CTD	13595.
MGI	MGI:107822. Ebp.
Phylogenomic databases
HOGENOM	P70245.
HOVERGEN	P70245.
OMA	PTWHILA.
Enzyme and pathway databases
BRENDA	5.3.3.5. 244.
Gene expression databases
ArrayExpress	P70245.
Bgee	P70245.
Genevestigator	P70245.
GermOnline	ENSMUSG00000031168. Mus musculus.
Family and domain databases
InterPro	IPR007905. EBP. [Graphical view]
PANTHER	PTHR14207. EBP. 1 hit.
Pfam	PF05241. EBP. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	284216.
SOURCE	Search...

Entry information

Entry name

EBP_MOUSE

Accession

Primary (citable) accession number: P70245
Secondary accession number(s): Q9CSP4

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 18, 2001
Last sequence update:	January 23, 2007
Last modified:	November 3, 2009
This is version 75 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)