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Q9BY08

- EBPL_HUMAN

UniProt

Q9BY08 - EBPL_HUMAN

Protein

Emopamil-binding protein-like

Gene

EBPL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    Does not possess sterol isomerase activity and does not bind sigma ligands.1 Publication

    GO - Molecular functioni

    1. cholestenol delta-isomerase activity Source: InterPro

    GO - Biological processi

    1. sterol metabolic process Source: InterPro

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Emopamil-binding protein-like
    Alternative name(s):
    Emopamil-binding-related protein
    Gene namesi
    Name:EBPL
    Synonyms:EBRP, ERP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:18061. EBPL.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum Source: HPA
    2. endoplasmic reticulum membrane Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134875632.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 206206Emopamil-binding protein-likePRO_0000174347Add
    BLAST

    Proteomic databases

    PaxDbiQ9BY08.
    PRIDEiQ9BY08.

    Expressioni

    Tissue specificityi

    Widely expressed with highest levels in liver, lung and kidney.1 Publication

    Gene expression databases

    BgeeiQ9BY08.
    CleanExiHS_EBPL.
    GenevestigatoriQ9BY08.

    Organism-specific databases

    HPAiHPA049891.

    Interactioni

    Subunit structurei

    Homodimer.1 Publication

    Protein-protein interaction databases

    BioGridi124173. 2 interactions.
    IntActiQ9BY08. 1 interaction.
    STRINGi9606.ENSP00000242827.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BY08.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei10 – 3021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei42 – 6221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei101 – 12121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei165 – 18521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the EBP family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG308392.
    HOVERGENiHBG051436.
    InParanoidiQ9BY08.
    OMAiRWLHSDP.
    OrthoDBiEOG7SN8DT.
    PhylomeDBiQ9BY08.
    TreeFamiTF314716.

    Family and domain databases

    InterProiIPR007905. EBP.
    [Graphical view]
    PANTHERiPTHR14207. PTHR14207. 1 hit.
    PfamiPF05241. EBP. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BY08-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MGAEWELGAE AGGSLLLCAA LLAAGCALGL RLGRGQGAAD RGALIWLCYD    50
    ALVHFALEGP FVYLSLVGNV ANSDGLIASL WKEYGKADAR WVYFDPTIVS 100
    VEILTVALDG SLALFLIYAI VKEKYYRHFL QITLCVCELY GCWMTFLPEW 150
    LTRSPNLNTS NWLYCWLYLF FFNGVWVLIP GLLLWQSWLE LKKMHQKETS 200
    SVKKFQ 206
    Length:206
    Mass (Da):23,204
    Last modified:June 1, 2001 - v1
    Checksum:i7093AC7E638B89D0
    GO
    Isoform 2 (identifier: Q9BY08-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         81-152: WKEYGKADAR...WMTFLPEWLT → CESRSVPQAG...SQDGLDLLTS
         153-206: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:152
    Mass (Da):16,148
    Checksum:i42BD497BDCF3CE6F
    GO
    Isoform 3 (identifier: Q9BY08-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         58-102: EGPFVYLSLV...YFDPTIVSVE → AFPADHPVRV...AVLLALPVFF
         103-206: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:102
    Mass (Da):10,873
    Checksum:iB177377904C347D8
    GO
    Isoform 4 (identifier: Q9BY08-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         81-97: WKEYGKADARWVYFDPT → CISCRSPCACASCMAAG
         98-206: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:97
    Mass (Da):9,691
    Checksum:iB68541E573B4A23F
    GO
    Isoform 5 (identifier: Q9BY08-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         81-87: WKEYGKA → S
         128-134: HFLQITL → DRVAWGE
         135-206: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:128
    Mass (Da):13,611
    Checksum:i2AF484853AD247BF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti31 – 311R → H in AAH92471. (PubMed:15489334)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei58 – 10245EGPFV…IVSVE → AFPADHPVRVRAVWLLDDLP PRVAHQKPQPQHQQLAVLLA LPVFF in isoform 3. CuratedVSP_035417Add
    BLAST
    Alternative sequencei81 – 15272WKEYG…PEWLT → CESRSVPQAGAQWHHLGSLQ APPPRFTPFSCLSLPSSWDY RRPPPRLANFFVFLVETGFH HVSQDGLDLLTS in isoform 2. CuratedVSP_035418Add
    BLAST
    Alternative sequencei81 – 9717WKEYG…YFDPT → CISCRSPCACASCMAAG in isoform 4. CuratedVSP_035419Add
    BLAST
    Alternative sequencei81 – 877WKEYGKA → S in isoform 5. CuratedVSP_035420
    Alternative sequencei98 – 206109Missing in isoform 4. CuratedVSP_035421Add
    BLAST
    Alternative sequencei103 – 206104Missing in isoform 3. CuratedVSP_035422Add
    BLAST
    Alternative sequencei128 – 1347HFLQITL → DRVAWGE in isoform 5. CuratedVSP_035423
    Alternative sequencei135 – 20672Missing in isoform 5. CuratedVSP_035424Add
    BLAST
    Alternative sequencei153 – 20654Missing in isoform 2. CuratedVSP_035425Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF243433 mRNA. Translation: AAK28348.1.
    AL135901 Genomic DNA. Translation: CAI40717.1.
    AL135901 Genomic DNA. Translation: CAI40718.1.
    AL135901 Genomic DNA. Translation: CAI40719.2.
    AL135901 Genomic DNA. Translation: CAI40720.1.
    AL135901 Genomic DNA. Translation: CAI40721.1.
    CH471075 Genomic DNA. Translation: EAX08832.1.
    BC018478 mRNA. Translation: AAH18478.1.
    BC092471 mRNA. Translation: AAH92471.1.
    CCDSiCCDS9420.1. [Q9BY08-1]
    RefSeqiNP_115954.1. NM_032565.4. [Q9BY08-1]
    UniGeneiHs.433278.

    Genome annotation databases

    EnsembliENST00000242827; ENSP00000242827; ENSG00000123179. [Q9BY08-1]
    ENST00000378268; ENSP00000367516; ENSG00000123179. [Q9BY08-2]
    ENST00000378270; ENSP00000367519; ENSG00000123179. [Q9BY08-3]
    ENST00000378272; ENSP00000367521; ENSG00000123179. [Q9BY08-4]
    GeneIDi84650.
    KEGGihsa:84650.
    UCSCiuc001vdg.3. human. [Q9BY08-1]

    Polymorphism databases

    DMDMi18202741.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF243433 mRNA. Translation: AAK28348.1 .
    AL135901 Genomic DNA. Translation: CAI40717.1 .
    AL135901 Genomic DNA. Translation: CAI40718.1 .
    AL135901 Genomic DNA. Translation: CAI40719.2 .
    AL135901 Genomic DNA. Translation: CAI40720.1 .
    AL135901 Genomic DNA. Translation: CAI40721.1 .
    CH471075 Genomic DNA. Translation: EAX08832.1 .
    BC018478 mRNA. Translation: AAH18478.1 .
    BC092471 mRNA. Translation: AAH92471.1 .
    CCDSi CCDS9420.1. [Q9BY08-1 ]
    RefSeqi NP_115954.1. NM_032565.4. [Q9BY08-1 ]
    UniGenei Hs.433278.

    3D structure databases

    ProteinModelPortali Q9BY08.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124173. 2 interactions.
    IntActi Q9BY08. 1 interaction.
    STRINGi 9606.ENSP00000242827.

    Chemistry

    ChEMBLi CHEMBL2311238.

    Polymorphism databases

    DMDMi 18202741.

    Proteomic databases

    PaxDbi Q9BY08.
    PRIDEi Q9BY08.

    Protocols and materials databases

    DNASUi 84650.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000242827 ; ENSP00000242827 ; ENSG00000123179 . [Q9BY08-1 ]
    ENST00000378268 ; ENSP00000367516 ; ENSG00000123179 . [Q9BY08-2 ]
    ENST00000378270 ; ENSP00000367519 ; ENSG00000123179 . [Q9BY08-3 ]
    ENST00000378272 ; ENSP00000367521 ; ENSG00000123179 . [Q9BY08-4 ]
    GeneIDi 84650.
    KEGGi hsa:84650.
    UCSCi uc001vdg.3. human. [Q9BY08-1 ]

    Organism-specific databases

    CTDi 84650.
    GeneCardsi GC13M050234.
    HGNCi HGNC:18061. EBPL.
    HPAi HPA049891.
    neXtProti NX_Q9BY08.
    PharmGKBi PA134875632.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG308392.
    HOVERGENi HBG051436.
    InParanoidi Q9BY08.
    OMAi RWLHSDP.
    OrthoDBi EOG7SN8DT.
    PhylomeDBi Q9BY08.
    TreeFami TF314716.

    Miscellaneous databases

    ChiTaRSi EBPL. human.
    GenomeRNAii 84650.
    NextBioi 74606.
    PROi Q9BY08.

    Gene expression databases

    Bgeei Q9BY08.
    CleanExi HS_EBPL.
    Genevestigatori Q9BY08.

    Family and domain databases

    InterProi IPR007905. EBP.
    [Graphical view ]
    PANTHERi PTHR14207. PTHR14207. 1 hit.
    Pfami PF05241. EBP. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Liver.
    2. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain and Prostate.

    Entry informationi

    Entry nameiEBPL_HUMAN
    AccessioniPrimary (citable) accession number: Q9BY08
    Secondary accession number(s): A6NJ59
    , Q569H7, Q5JVN2, Q5JVN3, Q5JVN4, Q5JVN5, Q5JVN6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 18, 2001
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 96 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 13
      Human chromosome 13: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3