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Entry version 174 (16 Oct 2019)
Sequence version 3 (23 Jan 2007)
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Protein

3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

Gene

EBP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Catalyzes the conversion of Delta8-sterols to their corresponding Delta7-isomers.3 Publications

Miscellaneous

Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: cholesterol biosynthesis

This protein is involved in the pathway cholesterol biosynthesis, which is part of Steroid biosynthesis.3 Publications
View all proteins of this organism that are known to be involved in the pathway cholesterol biosynthesis and in Steroid biosynthesis.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIsomerase
Biological processCholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:ENSG00000147155-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
5.3.3.5 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6807047 Cholesterol biosynthesis via desmosterol
R-HSA-6807062 Cholesterol biosynthesis via lathosterol

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q15125

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00063

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001209

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase (EC:5.3.3.53 Publications)
Alternative name(s):
Cholestenol Delta-isomerase
Delta(8)-Delta(7) sterol isomerase
Short name:
D8-D7 sterol isomerase
Emopamil-binding protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EBP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3133 EBP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300205 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15125

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei29 – 49HelicalSequence analysisAdd BLAST21
Transmembranei66 – 86HelicalSequence analysisAdd BLAST21
Transmembranei121 – 141HelicalSequence analysisAdd BLAST21
Transmembranei185 – 205HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasmic vesicle, Endoplasmic reticulum, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Chondrodysplasia punctata 2, X-linked dominant (CDPX2)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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-8(9)-en-3-beta-ol in the plasma and tissues.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01210580E → K in CDPX2. 1 PublicationCorresponds to variant dbSNP:rs104894800EnsemblClinVar.1
Natural variantiVAR_074637103E → K in CDPX2. 1 Publication1
Natural variantiVAR_012106110R → Q in CDPX2. 1 Publication1
Natural variantiVAR_012107147R → G in CDPX2. 1 Publication1
Natural variantiVAR_012108147R → H in CDPX2. 3 PublicationsCorresponds to variant dbSNP:rs28935174EnsemblClinVar.1
MEND syndrome (MEND)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive disorder associated with a defect in sterol biosynthesis. Disease manifestations and severity are highly variable. Clinical features include intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07463318L → P in MEND; patients have mildly increased concentrations of plasma 8(9)-cholestenol and 8-dehydrocholesterol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs104894795EnsemblClinVar.1
Natural variantiVAR_07463447W → C in MEND; patients have increased concentrations of plasma 8(9)-cholestenol, 8-dehydrocholesterol and 7-dehydrocholesterol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs587783599EnsemblClinVar.1
Natural variantiVAR_07463547W → R in MEND; patients have increased concentrations of plasma 8-dehydrocholesterol and 8(9)-cholestenol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs878854359EnsemblClinVar.1
Natural variantiVAR_07463675I → N in MEND; patients have increased plasma levels of 8(9)-cholestenol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs797045153EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi68W → A: Reduces catalytic activity to less than 35% of wild-type. 1 Publication1
Mutagenesisi75I → A: Reduces catalytic activity to less than 35% of wild-type. 1 Publication1
Mutagenesisi76H → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1
Mutagenesisi80E → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1
Mutagenesisi111Y → W: Reduces catalytic activity to less than 2% of wild-type. 1 Publication1
Mutagenesisi121M → A: Reduces catalytic activity to less than 35% of wild-type. 1 Publication1
Mutagenesisi121M → V: No effect on catalytic activity. 1 Publication1
Mutagenesisi122E → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1
Mutagenesisi125T → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1
Mutagenesisi188Y → A: Reduces catalytic activity to less than 35% of wild-type. 1 Publication1
Mutagenesisi189F → A: Reduces catalytic activity to less than 35% of wild-type. 1 Publication1
Mutagenesisi189F → L: No effect on catalytic activity. 1 Publication1
Mutagenesisi193N → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1
Mutagenesisi196W → A: Reduces catalytic activity to less than 10% of wild-type. 1 Publication1

Keywords - Diseasei

Cataract, Disease mutation, Dwarfism, Ichthyosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
10682

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
EBP

MalaCards human disease database

More...
MalaCardsi
EBP
MIMi300960 phenotype
302960 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000147155

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
401973 MEND syndrome
35173 X-linked dominant chondrodysplasia punctata

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27587

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q15125

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4931

Drug and drug target database

More...
DrugBanki
DB00675 Tamoxifen

DrugCentral

More...
DrugCentrali
Q15125

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EBP

Domain mapping of disease mutations (DMDM)

More...
DMDMi
17374795

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001743422 – 2303-beta-hydroxysteroid-Delta(8),Delta(7)-isomeraseAdd BLAST229

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylthreonineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q15125

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q15125

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q15125

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q15125

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q15125

PeptideAtlas

More...
PeptideAtlasi
Q15125

PRoteomics IDEntifications database

More...
PRIDEi
Q15125

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
60452

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q15125

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q15125

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q15125

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q15125

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000147155 Expressed in 231 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q15125 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q15125 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA003130

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
115921, 46 interactors

Protein interaction database and analysis system

More...
IntActi
Q15125, 184 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000417052

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q15125

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1230
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q15125

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini61 – 204EXPERAPROSITE-ProRule annotationAdd BLAST144

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the EBP family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4826 Eukaryota
ENOG41101ES LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063715

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000204543

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q15125

KEGG Orthology (KO)

More...
KOi
K01824

Identification of Orthologs from Complete Genome Data

More...
OMAi
TEHRDGY

Database of Orthologous Groups

More...
OrthoDBi
1130914at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q15125

TreeFam database of animal gene trees

More...
TreeFami
TF314716

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007905 EBP
IPR033118 EXPERA

The PANTHER Classification System

More...
PANTHERi
PTHR14207 PTHR14207, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05241 EBP, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51751 EXPERA, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q15125-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTTNAGPLHP YWPQHLRLDN FVPNDRPTWH ILAGLFSVTG VLVVTTWLLS
60 70 80 90 100
GRAAVVPLGT WRRLSLCWFA VCGFIHLVIE GWFVLYYEDL LGDQAFLSQL
110 120 130 140 150
WKEYAKGDSR YILGDNFTVC METITACLWG PLSLWVVIAF LRQHPLRFIL
160 170 180 190 200
QLVVSVGQIY GDVLYFLTEH RDGFQHGELG HPLYFWFYFV FMNALWLVLP
210 220 230
GVLVLDAVKH LTHAQSTLDA KATKAKSKKN
Length:230
Mass (Da):26,353
Last modified:January 23, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3931A9DE3DBAFA04
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JJ78C9JJ78_HUMAN
3-beta-hydroxysteroid-Delta(8),Delt...
EBP
160Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J719C9J719_HUMAN
3-beta-hydroxysteroid-Delta(8),Delt...
EBP
145Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti187 – 188FY → IF in CAG33096 (Ref. 2) Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07463318L → P in MEND; patients have mildly increased concentrations of plasma 8(9)-cholestenol and 8-dehydrocholesterol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs104894795EnsemblClinVar.1
Natural variantiVAR_07463447W → C in MEND; patients have increased concentrations of plasma 8(9)-cholestenol, 8-dehydrocholesterol and 7-dehydrocholesterol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs587783599EnsemblClinVar.1
Natural variantiVAR_07463547W → R in MEND; patients have increased concentrations of plasma 8-dehydrocholesterol and 8(9)-cholestenol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs878854359EnsemblClinVar.1
Natural variantiVAR_07463675I → N in MEND; patients have increased plasma levels of 8(9)-cholestenol; probable hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs797045153EnsemblClinVar.1
Natural variantiVAR_01210580E → K in CDPX2. 1 PublicationCorresponds to variant dbSNP:rs104894800EnsemblClinVar.1
Natural variantiVAR_074637103E → K in CDPX2. 1 Publication1
Natural variantiVAR_012106110R → Q in CDPX2. 1 Publication1
Natural variantiVAR_012107147R → G in CDPX2. 1 Publication1
Natural variantiVAR_012108147R → H in CDPX2. 3 PublicationsCorresponds to variant dbSNP:rs28935174EnsemblClinVar.1

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS14300.1

Protein sequence database of the Protein Information Resource

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PIRi
B56122

NCBI Reference Sequences

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RefSeqi
NP_006570.1, NM_006579.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000495186; ENSP00000417052; ENSG00000147155

Database of genes from NCBI RefSeq genomes

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GeneIDi
10682

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:10682

UCSC genome browser

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UCSCi
uc004djx.5 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS14300.1
PIRiB56122
RefSeqiNP_006570.1, NM_006579.2

3D structure databases

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Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6OHTX-ray3.20A/B/C2-230[»]
6OHUX-ray3.53A/B/C2-230[»]
SMRiQ15125
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi115921, 46 interactors
IntActiQ15125, 184 interactors
STRINGi9606.ENSP00000417052

Chemistry databases

BindingDBiQ15125
ChEMBLiCHEMBL4931
DrugBankiDB00675 Tamoxifen
DrugCentraliQ15125
SwissLipidsiSLP:000001209

PTM databases

iPTMnetiQ15125
PhosphoSitePlusiQ15125
SwissPalmiQ15125

Polymorphism and mutation databases

BioMutaiEBP
DMDMi17374795

Proteomic databases

EPDiQ15125
jPOSTiQ15125
MassIVEiQ15125
MaxQBiQ15125
PaxDbiQ15125
PeptideAtlasiQ15125
PRIDEiQ15125
ProteomicsDBi60452
TopDownProteomicsiQ15125

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
10682

Genome annotation databases

EnsembliENST00000495186; ENSP00000417052; ENSG00000147155
GeneIDi10682
KEGGihsa:10682
UCSCiuc004djx.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
10682
DisGeNETi10682

GeneCards: human genes, protein and diseases

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GeneCardsi
EBP
GeneReviewsiEBP
HGNCiHGNC:3133 EBP
HPAiHPA003130
MalaCardsiEBP
MIMi300205 gene
300960 phenotype
302960 phenotype
neXtProtiNX_Q15125
OpenTargetsiENSG00000147155
Orphaneti401973 MEND syndrome
35173 X-linked dominant chondrodysplasia punctata
PharmGKBiPA27587

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4826 Eukaryota
ENOG41101ES LUCA
GeneTreeiENSGT00530000063715
HOGENOMiHOG000204543
InParanoidiQ15125
KOiK01824
OMAiTEHRDGY
OrthoDBi1130914at2759
PhylomeDBiQ15125
TreeFamiTF314716

Enzyme and pathway databases

UniPathwayiUPA00063
BioCyciMetaCyc:ENSG00000147155-MONOMER
BRENDAi5.3.3.5 2681
ReactomeiR-HSA-6807047 Cholesterol biosynthesis via desmosterol
R-HSA-6807062 Cholesterol biosynthesis via lathosterol
SABIO-RKiQ15125

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
EBP human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
10682
PharosiQ15125

Protein Ontology

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PROi
PR:Q15125

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000147155 Expressed in 231 organ(s), highest expression level in testis
ExpressionAtlasiQ15125 baseline and differential
GenevisibleiQ15125 HS

Family and domain databases

InterProiView protein in InterPro
IPR007905 EBP
IPR033118 EXPERA
PANTHERiPTHR14207 PTHR14207, 1 hit
PfamiView protein in Pfam
PF05241 EBP, 1 hit
PROSITEiView protein in PROSITE
PS51751 EXPERA, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEBP_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q15125
Secondary accession number(s): Q6FGL3, Q6IBI9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: January 23, 2007
Last modified: October 16, 2019
This is version 174 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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