EBP (EBP cholestenol delta-isomerase)

2014-11-01  

Identity

HGNC
EBP
LOCATION
Xp11.23
LOCUSID
10682
ALIAS
CDPX2,CHO2,CPX,CPXD,MEND

Other Information

Locus ID:

NCBI: 10682
MIM: 300205
HGNC: 3133
Ensembl: ENSG00000147155

Variants:

dbSNP: 10682
ClinVar: 10682
TCGA: ENSG00000147155
COSMIC: EBP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147155ENST00000414061C9J719
ENSG00000147155ENST00000446158C9JJ78
ENSG00000147155ENST00000495186Q15125
ENSG00000147155ENST00000495186A0A024QYX0

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Steroid biosynthesisKEGGko00100
Steroid biosynthesisKEGGhsa00100
Metabolic pathwaysKEGGhsa01100
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGhsa_M00101
Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterolKEGGM00101
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Cholesterol biosynthesisREACTOMER-HSA-191273
Cholesterol biosynthesis via desmosterolREACTOMER-HSA-6807047
Cholesterol biosynthesis via lathosterolREACTOMER-HSA-6807062

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
321057362020Thermostabilization of Membrane Proteins by Consensus Mutation: A Case Study for a Fungal Δ8-7 Sterol Isomerase.7
321057362020Thermostabilization of Membrane Proteins by Consensus Mutation: A Case Study for a Fungal Δ8-7 Sterol Isomerase.7
311657282019Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition.22
313819902019High-level heterologous expression of the human transmembrane sterol Δ8,Δ7-isomerase in Pichia pastoris.5
311657282019Structural basis for human sterol isomerase in cholesterol biosynthesis and multidrug recognition.22
313819902019High-level heterologous expression of the human transmembrane sterol Δ8,Δ7-isomerase in Pichia pastoris.5
244590672014An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.4
244935932014Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Δ8,7-sterol isomerase in cholesterol biosynthesis.0
247005722014A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.5
249159962014Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).2
244590672014An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.4
244935932014Steroidomimetic aminomethyl spiroacetals as novel inhibitors of the enzyme Δ8,7-sterol isomerase in cholesterol biosynthesis.0
247005722014A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.5
249159962014Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).2
241068712013Elastin binding protein and FKBP65 modulate in vitro self-assembly of human tropoelastin.6

Citation

Dessen P

EBP (EBP cholestenol delta-isomerase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62709/ebp-(ebp-cholestenol-delta-isomerase)