Q9BY08 (EBPL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Emopamil-binding protein-like

Alternative name(s):
Emopamil-binding-related protein

Gene names

Name:	EBPL
Synonyms:	EBRP, ERP

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	206 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	sterol metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	cholestenol delta-isomerase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 206	206	Emopamil-binding protein-like		PRO_0000174347
Regions
	Transmembrane	10 – 30	21	Helical; Potential
	Transmembrane	42 – 62	21	Helical; Potential
	Transmembrane	101 – 121	21	Helical; Potential
	Transmembrane	165 – 185	21	Helical; Potential
Natural variations
	Alternative sequence	58 – 102	45	EGPFV…IVSVE → AFPADHPVRVRAVWLLDDLP PRVAHQKPQPQHQQLAVLLA LPVFF in isoform 3.		VSP_035417
	Alternative sequence	81 – 152	72	WKEYG…PEWLT → CESRSVPQAGAQWHHLGSLQ APPPRFTPFSCLSLPSSWDY RRPPPRLANFFVFLVETGFH HVSQDGLDLLTS in isoform 2.		VSP_035418
	Alternative sequence	81 – 97	17	WKEYG…YFDPT → CISCRSPCACASCMAAG in isoform 4.		VSP_035419
	Alternative sequence	81 – 87	7	WKEYGKA → S in isoform 5.		VSP_035420
	Alternative sequence	98 – 206	109	Missing in isoform 4.		VSP_035421
	Alternative sequence	103 – 206	104	Missing in isoform 3.		VSP_035422
	Alternative sequence	128 – 134	7	HFLQITL → DRVAWGE in isoform 5.		VSP_035423
	Alternative sequence	135 – 206	72	Missing in isoform 5.		VSP_035424
	Alternative sequence	153 – 206	54	Missing in isoform 2.		VSP_035425
Experimental info
	Sequence conflict	31	1	R → H in AAH92471. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 7093AC7E638B89D0	FASTA	206	23,204
	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
	Isoform 2 [UniParc]. Checksum: 42BD497BDCF3CE6F	FASTA	152	16,148
	10 20 30 40 50 60 MGAEWELGAE AGGSLLLCAA LLAAGCALGL RLGRGQGAAD RGALIWLCYD ALVHFALEGP 70 80 90 100 110 120 FVYLSLVGNV ANSDGLIASL CESRSVPQAG AQWHHLGSLQ APPPRFTPFS CLSLPSSWDY 130 140 150 RRPPPRLANF FVFLVETGFH HVSQDGLDLL TS
	Isoform 3 [UniParc]. Checksum: B177377904C347D8	FASTA	102	10,873
	10 20 30 40 50 60 MGAEWELGAE AGGSLLLCAA LLAAGCALGL RLGRGQGAAD RGALIWLCYD ALVHFALAFP 70 80 90 100 ADHPVRVRAV WLLDDLPPRV AHQKPQPQHQ QLAVLLALPV FF
	Isoform 4 [UniParc]. Checksum: B68541E573B4A23F	FASTA	97	9,691
	10 20 30 40 50 60 MGAEWELGAE AGGSLLLCAA LLAAGCALGL RLGRGQGAAD RGALIWLCYD ALVHFALEGP 70 80 90 FVYLSLVGNV ANSDGLIASL CISCRSPCAC ASCMAAG
	Isoform 5 [UniParc]. Checksum: 2AF484853AD247BF	FASTA	128	13,611
	10 20 30 40 50 60 MGAEWELGAE AGGSLLLCAA LLAAGCALGL RLGRGQGAAD RGALIWLCYD ALVHFALEGP 70 80 90 100 110 120 FVYLSLVGNV ANSDGLIASL SDARWVYFDP TIVSVEILTV ALDGSLALFL IYAIVKEKYY RDRVAWGE

References

	« Hide 'large scale' referencesShow '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: 12760743] [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: 15057823] [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. , 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: 15489334] [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.
IPI	IPI00000247. IPI00552554. IPI00552966. IPI00552974. IPI00553097.
RefSeq	NP_115954.1. NM_032565.3.
UniGene	Hs.433278.
3D structure databases
ProteinModelPortal	Q9BY08.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BY08. 1 interaction.
STRING	Q9BY08.
Polymorphism databases
DMDM	18202741.
Proteomic databases
PRIDE	Q9BY08.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000242827; ENSP00000242827; ENSG00000123179.
GeneID	84650.
KEGG	hsa:84650.
UCSC	uc001vdg.1. human.
Organism-specific databases
CTD	84650.
GeneCards	GC13M050234.
H-InvDB	HIX0020660.
HGNC	HGNC:18061. EBPL.
neXtProt	NX_Q9BY08.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19464.
GeneTree	ENSGT00530000063715.
HOVERGEN	HBG051436.
InParanoid	Q9BY08.
OMA	WLMGSPN.
PhylomeDB	Q9BY08.
Gene expression databases
ArrayExpress	Q9BY08.
Bgee	Q9BY08.
CleanEx	HS_EBPL.
Genevestigator	Q9BY08.
GermOnline	ENSG00000123179. Homo sapiens.
Family and domain databases
InterPro	IPR007905. EBP. [Graphical view]
PANTHER	PTHR14207. EBP. 1 hit.
Pfam	PF05241. EBP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	74606.

Entry information

Entry name

EBPL_HUMAN

Accession

Primary (citable) accession number: Q9BY08
Secondary accession number(s): A6NJ59 , Q569H7, Q5JVN2, Q5JVN3, Q5JVN4, Q5JVN5, Q5JVN6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 18, 2001
Last sequence update:	June 1, 2001
Last modified:	January 25, 2012
This is version 73 of the entry and version 1 of the sequence. [Complete history]

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.