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Q9BY08

- EBPL_HUMAN

UniProt

Q9BY08 - EBPL_HUMAN

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Protein

Emopamil-binding protein-like

Gene

EBPL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

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

GO - Cellular componenti

  1. endoplasmic reticulum Source: HPA
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

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...

Family & Domainsi

Sequence similaritiesi

Belongs to the EBP family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG308392.
GeneTreeiENSGT00530000063715.
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

        10         20         30         40         50
MGAEWELGAE AGGSLLLCAA LLAAGCALGL RLGRGQGAAD RGALIWLCYD
60 70 80 90 100
ALVHFALEGP FVYLSLVGNV ANSDGLIASL WKEYGKADAR WVYFDPTIVS
110 120 130 140 150
VEILTVALDG SLALFLIYAI VKEKYYRHFL QITLCVCELY GCWMTFLPEW
160 170 180 190 200
LTRSPNLNTS NWLYCWLYLF FFNGVWVLIP GLLLWQSWLE LKKMHQKETS

SVKKFQ
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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

BindingDBi Q9BY08.
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.
GeneTreei ENSGT00530000063715.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 98 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