ENSMUSG00000031168


Mus musculus

Features
Gene ID: ENSMUSG00000031168
  
Biological name :Ebp
  
Synonyms : 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase / Ebp / P70245
  
Possible biological names infered from orthology : emopamil binding protein (sterol isomerase) / Q15125
  
Species: Mus musculus
  
Chr. number: X
Strand: -1
Band: A1.1
Gene start: 8185329
Gene end: 8193512
  
Corresponding Affymetrix probe sets: 10603485 (MoGene1.0st)   1416667_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000116845
Ensembl peptide - ENSMUSP00000033509
NCBI entrez gene - 13595     See in Manteia.
MGI - MGI:107822
RefSeq - NM_007898
RefSeq Peptide - NP_031924
swissprot - A2AC29
swissprot - P70245
Ensembl - ENSMUSG00000031168
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ebpENSDARG00000046098Danio rerio
 EBPENSG00000147155Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ebpl / Q9D0P0 / Emopamil-binding protein-like / Q9BY08*ENSMUSG0000002192823


Protein motifs (from Interpro)
Interpro ID Name
 IPR007905  Emopamil-binding protein
 IPR033118  EXPERA domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0006695 cholesterol biosynthetic process ISO
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0016125 sterol metabolic process IEA
 biological_processGO:0016126 sterol biosynthetic process TAS
 biological_processGO:0030097 hemopoiesis IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope ISS
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0000247 C-8 sterol isomerase activity IMP
 molecular_functionGO:0004769 steroid delta-isomerase activity IEA
 molecular_functionGO:0016853 isomerase activity IEA
 molecular_functionGO:0047750 cholestenol delta-isomerase activity IEA


Pathways (from Reactome)
Pathway description
Cholesterol biosynthesis via desmosterol
Cholesterol biosynthesis via lathosterol


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: SEC/1Gn

 MP:0001195 flaky skin "shedding scales on the skin " [J:56641]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: SEC/1Gn

 MP:0001212 skin lesions "focal patches of inflammation on the skin" [J:30162]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: SEC/1Gn

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
Show

Allelic Composition: EbpTd-ho/Ebp+
Genetic Background: involves: C57BL/6J * M. spretus

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: SEC/1Gn

Allelic Composition: EbpTd-ho/Ebp+
Genetic Background: involves: C57BL/6J * M. spretus

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: SEC/1Gn

Allelic Composition: EbpTd-ho/Ebp+
Genetic Background: involves: C57BL/6J * M. spretus

 MP:0003396 abnormal embryonic hematopoiesis "anomaly in the development of primarily large, nucleated erythroblasts as well as some megakaryocytes and primitive macrophages occuring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans " [J:94136, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: EbpTd-ho/Y
Genetic Background: involves: C57BL/6J * M. spretus

 MP:0004229 abnormal embryonic erythropoiesis "anomaly in the development of primarily large, nucleated erythroblasts occurring in blood islands in the yolk sac, generally occurs from E7-E11 in the mouse and through 10 weeks in humans" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: EbpTd-ho/Y
Genetic Background: involves: C57BL/6J * M. spretus

 MP:0004230 abnormal embryonic erythrocyte morphology "structural anomaly of the embryonic blood cells that carry oxygen" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: EbpTd-ho/Y
Genetic Background: involves: C57BL/6J * M. spretus

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: EbpTd-ho/Ebp+
Genetic Background: involves: C57BL/6J * M. spretus

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: SEC/1Gn

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: SEC/1Gn

Allelic Composition: EbpTd-ho/Y
Genetic Background: involves: C57BL/6J * M. spretus

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: EbpTd-ho/Y
Genetic Background: involves: C57BL/6J * M. spretus

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Bmp5se/Bmp5se
Genetic Background: SEC/1Gn

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr