Q15125 (EBP_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 104.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames 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 |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
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 | |
| Subcellular location | Endoplasmic reticulum membrane; Multi-pass membrane protein. |
| Involvement in disease | Defects in EBP are the cause of chondrodysplasia punctata X-linked dominant type 2 (CDPX2) [MIM:302960]; also known as Conradi-Hunermann-Happle syndrome. CDP is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-89-en-3-beta-ol in the plasma and tissues. Ref.8 Ref.9 Ref.10 Ref.11 |
| Miscellaneous | Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug. |
| Sequence similarities | Belongs to the EBP family. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed By similarity | ||||||
| Chain | 2 – 230 | 229 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | PRO_0000174342 | |||||
Regions | |||||||||
| Transmembrane | 29 – 49 | 21 | Helical; Potential | ||||||
| Transmembrane | 66 – 86 | 21 | Helical; Potential | ||||||
| Transmembrane | 121 – 141 | 21 | Helical; Potential | ||||||
| Transmembrane | 185 – 205 | 21 | Helical; Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylthreonine By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 80 | 1 | E → K in CDPX2. Ref.9 Corresponds to variant rs28936073 [ dbSNP | Ensembl ]. | VAR_012105 | |||||
| Natural variant | 110 | 1 | R → Q in CDPX2. Ref.8 | VAR_012106 | |||||
| Natural variant | 147 | 1 | R → G in CDPX2. Ref.11 | VAR_012107 | |||||
| Natural variant | 147 | 1 | R → H in CDPX2. Ref.9 Ref.10 Corresponds to variant rs28935174 [ dbSNP | Ensembl ]. | VAR_012108 | |||||
Experimental info | |||||||||
| Mutagenesis | 68 | 1 | W → A: Reduces catalytic activity to less than 35% of wild-type. | ||||||
| Mutagenesis | 75 | 1 | I → A: Reduces catalytic activity to less than 35% of wild-type. | ||||||
| Mutagenesis | 76 | 1 | H → A: Reduces catalytic activity to less than 10% of wild-type. | ||||||
| Mutagenesis | 80 | 1 | E → A: Reduces catalytic activity to less than 10% of wild-type. | ||||||
| Mutagenesis | 111 | 1 | Y → W: Reduces catalytic activity to less than 2% of wild-type. Ref.7 | ||||||
| Mutagenesis | 121 | 1 | M → A: Reduces catalytic activity to less than 35% of wild-type. Ref.7 | ||||||
| Mutagenesis | 121 | 1 | M → V: No effect on catalytic activity. Ref.7 | ||||||
| Mutagenesis | 122 | 1 | E → A: Reduces catalytic activity to less than 10% of wild-type. | ||||||
| Mutagenesis | 125 | 1 | T → A: Reduces catalytic activity to less than 10% of wild-type. | ||||||
| Mutagenesis | 188 | 1 | Y → A: Reduces catalytic activity to less than 35% of wild-type. | ||||||
| Mutagenesis | 189 | 1 | F → A: Reduces catalytic activity to less than 35% of wild-type. Ref.7 | ||||||
| Mutagenesis | 189 | 1 | F → L: No effect on catalytic activity. Ref.7 | ||||||
| Mutagenesis | 193 | 1 | N → A: Reduces catalytic activity to less than 10% of wild-type. | ||||||
| Mutagenesis | 196 | 1 | W → A: Reduces catalytic activity to less than 10% of wild-type. | ||||||
| Sequence conflict | 187 – 188 | 2 | FY → IF in CAG33096. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Phenylalkylamine Ca2+ antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression." Hanner M., Moebius F.F., Weber F., Grabner M., Striessnig J., Glossmann H. J. Biol. Chem. 270:7551-7557(1995) [PubMed: 7706302] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Liver. |
| [2] | "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [3] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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: Cervix and Placenta. |
| [6] | "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." Moebius F.F., Soellner K.E.M., Fiechtner B., Huck C.W., Bonn G., Glossmann H. Biochemistry 38:1119-1127(1999) [PubMed: 9894009] [Abstract] Cited for: MUTAGENESIS. |
| [7] | "Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity." Moebius F.F., Fitzky B.U., Wietzorrek G., Haidekker A., Eder A., Glossmann H. Biochem. J. 374:229-237(2003) [PubMed: 12760743] [Abstract] Cited for: MUTAGENESIS OF TYR-111; MET-121 AND PHE-189. |
| [8] | "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 CDPX2 GLN-110. |
| [9] | "Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome." Braverman N., Lin P., Moebius F.F., Obie C., Moser A., Glossmann H., Wilcox W.R., Rimoin D.L., Smith M., Kratz L., Kelley R.I., Valle D. Nat. Genet. 22:291-294(1999) [PubMed: 10391219] [Abstract] Cited for: VARIANTS CDPX2 LYS-80 AND HIS-147. |
| [10] | "The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism." Has C., Bruckner-Tuderman L., Muller D., Floeth M., Folkers E., Donnai D., Traupe H. Hum. Mol. Genet. 9:1951-1955(2000) [PubMed: 10942423] [Abstract] Cited for: VARIANT CDPX2 HIS-147. |
| [11] | "Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hunermann-Happle syndrome." Becker K., Csikos M., Horvath A., Karpati S. Exp. Dermatol. 10:286-289(2001) [PubMed: 11493318] [Abstract] Cited for: VARIANT CDPX2 GLY-147. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | Z37986 mRNA. Translation: CAA86068.1. CR456815 mRNA. Translation: CAG33096.1. CR542094 mRNA. Translation: CAG46891.1. AF196969 Genomic DNA. No translation available. AF196972 Genomic DNA. No translation available. CH471224 Genomic DNA. Translation: EAW50773.1. BC001549 mRNA. Translation: AAH01549.1. BC001572 mRNA. Translation: AAH01572.1. BC046501 mRNA. Translation: AAH46501.1. |
| IPI | IPI00008599. |
| PIR | B56122. |
| RefSeq | NP_006570.1. NM_006579.2. |
| UniGene | Hs.30619. |
3D structure databases | |
| ProteinModelPortal | Q15125. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q15125. 1 interaction. |
| STRING | Q15125. |
Polymorphism databases | |
| DMDM | 17374795. |
Proteomic databases | |
| PeptideAtlas | Q15125. |
| PRIDE | Q15125. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000495186; ENSP00000417052; ENSG00000147155. |
| GeneID | 10682. |
| KEGG | hsa:10682. |
| UCSC | uc004djx.2. human. |
Organism-specific databases | |
| CTD | 10682. |
| GeneCards | GC0XP048380. |
| H-InvDB | HIX0203294. |
| HGNC | HGNC:3133. EBP. |
| HPA | HPA003130. |
| MIM | 300205. gene. 302960. phenotype. |
| neXtProt | NX_Q15125. |
| Orphanet | 35173. X-linked dominant chondrodysplasia punctata. |
| PharmGKB | PA27587. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG10454. |
| GeneTree | ENSGT00530000063715. |
| HOGENOM | HBG590959. |
| HOVERGEN | HBG018176. |
| InParanoid | Q15125. |
| OMA | PTWHILA. |
| OrthoDB | EOG45490D. |
| PhylomeDB | Q15125. |
Enzyme and pathway databases | |
| BioCyc | MetaCyc:ENSG00000147155-MONOMER. |
| BRENDA | 5.3.3.5. 2681. |
| Reactome | REACT_22258. Metabolism of lipids and lipoproteins. |
Gene expression databases | |
| ArrayExpress | Q15125. |
| Bgee | Q15125. |
| CleanEx | HS_EBP. |
| Genevestigator | Q15125. |
| GermOnline | ENSG00000147155. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007905. EBP. [Graphical view] |
| KO | K01824. |
| PANTHER | PTHR14207. EBP. 1 hit. |
| Pfam | PF05241. EBP. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 40611. |
| SOURCE | Search... |
Entry information
| Entry name | EBP_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q15125 Secondary accession number(s): Q6FGL3, Q6IBI9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with