EBP | ENSG00000147155 | NCBI 10682

Details for: EBP

Gene ID: 10682

Symbol: EBP

Ensembl ID: ENSG00000147155

Description: EBP cholestenol delta-isomerase

Associated with

Cholesterol biosynthesis
(R-HSA-191273)
Cholesterol biosynthesis via desmosterol
(R-HSA-6807047)
Cholesterol biosynthesis via lathosterol
(R-HSA-6807062)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Metabolism of steroids
(R-HSA-8957322)
C-8 sterol isomerase activity
(GO:0000247)
Cholestenol delta-isomerase activity
(GO:0047750)
Cholesterol biosynthetic process
(GO:0006695)
Cholesterol biosynthetic process via desmosterol
(GO:0033489)
Cholesterol biosynthetic process via lathosterol
(GO:0033490)
Cholesterol metabolic process
(GO:0008203)
Cytoplasmic vesicle
(GO:0031410)
Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum membrane
(GO:0005789)
Hemopoiesis
(GO:0030097)
Identical protein binding
(GO:0042802)
Nuclear envelope
(GO:0005635)
Nuclear membrane
(GO:0031965)
Ossification involved in bone maturation
(GO:0043931)
Protein binding
(GO:0005515)
Steroid delta-isomerase activity
(GO:0004769)

Other Information

Proteins

Cholestenol Delta-isomerase

Genular Protein ID: 3543013198

Symbol: EBP_HUMAN

Name: Cholestenol Delta-isomerase

UniProtKB Accession Codes:

Q15125 Q6FGL3 Q6IBI9

Database IDs:

Citations:

PubMed ID: 7706302

Title: Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression.

PubMed ID: 7706302

DOI: 10.1074/jbc.270.13.7551

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8798407

Title: Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast.

PubMed ID: 8798407

DOI: 10.1074/jbc.271.37.22434

PubMed ID: 9894009

Title: Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization.

PubMed ID: 9894009

DOI: 10.1021/bi981804i

PubMed ID: 10406945

Title: Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level.

PubMed ID: 10406945

DOI: 10.1046/j.1432-1327.1999.00500.x

PubMed ID: 12503101

Title: Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

PubMed ID: 12503101

DOI: 10.1002/ajmg.a.10849

PubMed ID: 12760743

Title: Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity.

PubMed ID: 12760743

DOI: 10.1042/bj20030465

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20949533

Title: A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

PubMed ID: 20949533

DOI: 10.1002/ajmg.a.33674

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 10391218

Title: Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata.

PubMed ID: 10391218

DOI: 10.1038/10350

PubMed ID: 10391219

Title: Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.

PubMed ID: 10391219

DOI: 10.1038/10357

PubMed ID: 10942423

Title: The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.

PubMed ID: 10942423

DOI: 10.1093/hmg/9.13.1951

PubMed ID: 11493318

Title: Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hunermann-Happle syndrome.

PubMed ID: 11493318

DOI: 10.1034/j.1600-0625.2001.100409.x

PubMed ID: 18176751

Title: Conradi-Huenermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.

PubMed ID: 18176751

DOI: 10.2340/00015555-0337

PubMed ID: 24459067

Title: An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

PubMed ID: 24459067

DOI: 10.1002/ajmg.a.36368

PubMed ID: 24700572

Title: A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.

PubMed ID: 24700572

DOI: 10.1002/ajmg.a.36508

PubMed ID: 25814754

Title: Emopamil binding protein mutation in conradi-huenermann-happle syndrome representing plaque-type psoriasis.

PubMed ID: 25814754

DOI: 10.4103/0019-5154.152570

Sequence Information:

Length: 230
Mass: 26353
Checksum: 3931A9DE3DBAFA04
Sequence:

MTTNAGPLHP YWPQHLRLDN FVPNDRPTWH ILAGLFSVTG VLVVTTWLLS GRAAVVPLGT 
WRRLSLCWFA VCGFIHLVIE GWFVLYYEDL LGDQAFLSQL WKEYAKGDSR YILGDNFTVC 
METITACLWG PLSLWVVIAF LRQHPLRFIL QLVVSVGQIY GDVLYFLTEH RDGFQHGELG 
HPLYFWFYFV FMNALWLVLP GVLVLDAVKH LTHAQSTLDA KATKAKSKKN

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: EBP

Associated with

Other Information

Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression. PubMed ID: 7706302

The DNA sequence of the human X chromosome. PubMed ID: 15772651

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast. PubMed ID: 8798407

Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization. PubMed ID: 9894009

Colocalization of sterol isomerase and sigma(1) receptor at endoplasmic reticulum and nuclear envelope level. PubMed ID: 10406945

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. PubMed ID: 12503101

Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. PubMed ID: 12760743

Lysine acetylation targets protein complexes and co-regulates major cellular functions. PubMed ID: 19608861

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. PubMed ID: 20949533

Initial characterization of the human central proteome. PubMed ID: 21269460

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Mutations in a delta(8)-delta(7) sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. PubMed ID: 10391218

Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome. PubMed ID: 10391219

The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. PubMed ID: 10942423

Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hunermann-Happle syndrome. PubMed ID: 11493318

Conradi-Huenermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. PubMed ID: 18176751

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. PubMed ID: 24459067

A novel EBP c.224T&gt;A mutation supports the existence of a male-specific disorder independent of CDPX2. PubMed ID: 24700572

Emopamil binding protein mutation in conradi-huenermann-happle syndrome representing plaque-type psoriasis. PubMed ID: 25814754