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Q9BY08 (EBPL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 95. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Emopamil-binding protein-like
Alternative name(s):
Emopamil-binding-related protein
Gene names
Name:EBPL
Synonyms:EBRP, ERP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length206 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Homodimer. Ref.1

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.1.

Tissue specificity

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

Sequence similarities

Belongs to the EBP family.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BY08-1)

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.
Isoform 2 (identifier: Q9BY08-2)

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.
Isoform 3 (identifier: Q9BY08-3)

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.
Isoform 4 (identifier: Q9BY08-4)

The sequence of this isoform differs from the canonical sequence as follows:
     81-97: WKEYGKADARWVYFDPT → CISCRSPCACASCMAAG
     98-206: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9BY08-5)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 206206Emopamil-binding protein-like
PRO_0000174347

Regions

Transmembrane10 – 3021Helical; Potential
Transmembrane42 – 6221Helical; Potential
Transmembrane101 – 12121Helical; Potential
Transmembrane165 – 18521Helical; Potential

Natural variations

Alternative sequence58 – 10245EGPFV…IVSVE → AFPADHPVRVRAVWLLDDLP PRVAHQKPQPQHQQLAVLLA LPVFF in isoform 3.
VSP_035417
Alternative sequence81 – 15272WKEYG…PEWLT → CESRSVPQAGAQWHHLGSLQ APPPRFTPFSCLSLPSSWDY RRPPPRLANFFVFLVETGFH HVSQDGLDLLTS in isoform 2.
VSP_035418
Alternative sequence81 – 9717WKEYG…YFDPT → CISCRSPCACASCMAAG in isoform 4.
VSP_035419
Alternative sequence81 – 877WKEYGKA → S in isoform 5.
VSP_035420
Alternative sequence98 – 206109Missing in isoform 4.
VSP_035421
Alternative sequence103 – 206104Missing in isoform 3.
VSP_035422
Alternative sequence128 – 1347HFLQITL → DRVAWGE in isoform 5.
VSP_035423
Alternative sequence135 – 20672Missing in isoform 5.
VSP_035424
Alternative sequence153 – 20654Missing in isoform 2.
VSP_035425

Experimental info

Sequence conflict311R → H in AAH92471. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 7093AC7E638B89D0

FASTA20623,204
        10         20         30         40         50         60 
MGAEWELGAE AGGSLLLCAA LLAAGCALGL RLGRGQGAAD RGALIWLCYD ALVHFALEGP 

        70         80         90        100        110        120 
FVYLSLVGNV ANSDGLIASL WKEYGKADAR WVYFDPTIVS VEILTVALDG SLALFLIYAI 

       130        140        150        160        170        180 
VKEKYYRHFL QITLCVCELY GCWMTFLPEW LTRSPNLNTS NWLYCWLYLF FFNGVWVLIP 

       190        200 
GLLLWQSWLE LKKMHQKETS SVKKFQ 

« Hide

Isoform 2 [UniParc].

Checksum: 42BD497BDCF3CE6F
Show »

FASTA15216,148
Isoform 3 [UniParc].

Checksum: B177377904C347D8
Show »

FASTA10210,873
Isoform 4 [UniParc].

Checksum: B68541E573B4A23F
Show »

FASTA979,691
Isoform 5 [UniParc].

Checksum: 2AF484853AD247BF
Show »

FASTA12813,611

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS9420.1. [Q9BY08-1]
RefSeqNP_115954.1. NM_032565.4. [Q9BY08-1]
UniGeneHs.433278.

3D structure databases

ProteinModelPortalQ9BY08.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124173. 2 interactions.
IntActQ9BY08. 1 interaction.
STRING9606.ENSP00000242827.

Chemistry

ChEMBLCHEMBL2311238.

Polymorphism databases

DMDM18202741.

Proteomic databases

PaxDbQ9BY08.
PRIDEQ9BY08.

Protocols and materials databases

DNASU84650.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000242827; ENSP00000242827; ENSG00000123179. [Q9BY08-1]
ENST00000378268; ENSP00000367516; ENSG00000123179. [Q9BY08-2]
ENST00000378270; ENSP00000367519; ENSG00000123179. [Q9BY08-3]
ENST00000378272; ENSP00000367521; ENSG00000123179. [Q9BY08-4]
ENST00000378282; ENSP00000367531; ENSG00000123179. [Q9BY08-5]
GeneID84650.
KEGGhsa:84650.
UCSCuc001vdg.3. human. [Q9BY08-1]

Organism-specific databases

CTD84650.
GeneCardsGC13M050234.
HGNCHGNC:18061. EBPL.
HPAHPA049891.
neXtProtNX_Q9BY08.
PharmGKBPA134875632.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG308392.
HOVERGENHBG051436.
InParanoidQ9BY08.
OMARWLHSDP.
OrthoDBEOG7SN8DT.
PhylomeDBQ9BY08.
TreeFamTF314716.

Gene expression databases

BgeeQ9BY08.
CleanExHS_EBPL.
GenevestigatorQ9BY08.

Family and domain databases

InterProIPR007905. EBP.
[Graphical view]
PANTHERPTHR14207. PTHR14207. 1 hit.
PfamPF05241. EBP. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSEBPL. human.
GenomeRNAi84650.
NextBio74606.
PROQ9BY08.

Entry information

Entry nameEBPL_HUMAN
AccessionPrimary (citable) accession number: Q9BY08
Secondary accession number(s): A6NJ59 expand/collapse secondary AC list , Q569H7, Q5JVN2, Q5JVN3, Q5JVN4, Q5JVN5, Q5JVN6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 95 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM