ID EBPL_HUMAN Reviewed; 206 AA. AC Q9BY08; A6NJ59; Q569H7; Q5JVN2; Q5JVN3; Q5JVN4; Q5JVN5; Q5JVN6; DT 18-OCT-2001, integrated into UniProtKB/Swiss-Prot. DT 01-JUN-2001, sequence version 1. DT 27-MAR-2024, entry version 151. DE RecName: Full=Emopamil-binding protein-like; DE AltName: Full=Emopamil-binding-related protein; GN Name=EBPL; Synonyms=EBRP, ERP; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBUNIT, SUBCELLULAR RP LOCATION, AND TISSUE SPECIFICITY. RC TISSUE=Liver; RX PubMed=12760743; DOI=10.1042/bj20030465; RA Moebius F.F., Fitzky B.U., Wietzorrek G., Haidekker A., Eder A., RA Glossmann H.; RT "Cloning of an emopamil-binding protein (EBP)-like protein that lacks RT sterol delta8-delta7 isomerase activity."; RL Biochem. J. 374:229-237(2003). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15057823; DOI=10.1038/nature02379; RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L., RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., RA Frankish A.G., Frankland J., French L., Garner P., Garnett J., RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., RA Rogers J., Ross M.T.; RT "The DNA sequence and analysis of human chromosome 13."; RL Nature 428:522-528(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Brain, and Prostate; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- FUNCTION: Does not possess sterol isomerase activity and does not bind CC sigma ligands. {ECO:0000269|PubMed:12760743}. CC -!- SUBUNIT: Homodimer. {ECO:0000269|PubMed:12760743}. CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane CC {ECO:0000269|PubMed:12760743}; Multi-pass membrane protein CC {ECO:0000269|PubMed:12760743}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=5; CC Name=1; CC IsoId=Q9BY08-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9BY08-2; Sequence=VSP_035418, VSP_035425; CC Name=3; CC IsoId=Q9BY08-3; Sequence=VSP_035417, VSP_035422; CC Name=4; CC IsoId=Q9BY08-4; Sequence=VSP_035419, VSP_035421; CC Name=5; CC IsoId=Q9BY08-5; Sequence=VSP_035420, VSP_035423, VSP_035424; CC -!- TISSUE SPECIFICITY: Widely expressed with highest levels in liver, lung CC and kidney. {ECO:0000269|PubMed:12760743}. CC -!- SIMILARITY: Belongs to the EBP family. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF243433; AAK28348.1; -; mRNA. DR EMBL; AL135901; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471075; EAX08832.1; -; Genomic_DNA. DR EMBL; BC018478; AAH18478.1; -; mRNA. DR EMBL; BC092471; AAH92471.1; -; mRNA. DR CCDS; CCDS9420.1; -. [Q9BY08-1] DR RefSeq; NP_115954.1; NM_032565.4. [Q9BY08-1] DR AlphaFoldDB; Q9BY08; -. DR SMR; Q9BY08; -. DR BioGRID; 124173; 3. DR IntAct; Q9BY08; 3. DR STRING; 9606.ENSP00000242827; -. DR BindingDB; Q9BY08; -. DR ChEMBL; CHEMBL2311238; -. DR DrugCentral; Q9BY08; -. DR BioMuta; EBPL; -. DR DMDM; 18202741; -. DR jPOST; Q9BY08; -. DR MassIVE; Q9BY08; -. DR PaxDb; 9606-ENSP00000242827; -. DR PeptideAtlas; Q9BY08; -. DR ProteomicsDB; 79554; -. [Q9BY08-1] DR ProteomicsDB; 79555; -. [Q9BY08-2] DR ProteomicsDB; 79556; -. [Q9BY08-3] DR ProteomicsDB; 79557; -. [Q9BY08-4] DR ProteomicsDB; 79558; -. [Q9BY08-5] DR TopDownProteomics; Q9BY08-1; -. [Q9BY08-1] DR Antibodypedia; 53037; 80 antibodies from 13 providers. DR DNASU; 84650; -. DR Ensembl; ENST00000242827.11; ENSP00000242827.6; ENSG00000123179.14. [Q9BY08-1] DR Ensembl; ENST00000378268.1; ENSP00000367516.1; ENSG00000123179.14. [Q9BY08-2] DR Ensembl; ENST00000378270.5; ENSP00000367519.5; ENSG00000123179.14. [Q9BY08-3] DR Ensembl; ENST00000378272.9; ENSP00000367521.5; ENSG00000123179.14. [Q9BY08-4] DR GeneID; 84650; -. DR KEGG; hsa:84650; -. DR MANE-Select; ENST00000242827.11; ENSP00000242827.6; NM_032565.5; NP_115954.1. DR UCSC; uc001vdg.5; human. [Q9BY08-1] DR AGR; HGNC:18061; -. DR DisGeNET; 84650; -. DR GeneCards; EBPL; -. DR HGNC; HGNC:18061; EBPL. DR HPA; ENSG00000123179; Tissue enhanced (liver). DR MIM; 617335; gene. DR neXtProt; NX_Q9BY08; -. DR OpenTargets; ENSG00000123179; -. DR PharmGKB; PA134875632; -. DR VEuPathDB; HostDB:ENSG00000123179; -. DR eggNOG; KOG4826; Eukaryota. DR GeneTree; ENSGT00530000063715; -. DR HOGENOM; CLU_2346090_0_0_1; -. DR InParanoid; Q9BY08; -. DR OMA; VYLWLYL; -. DR OrthoDB; 4182271at2759; -. DR PhylomeDB; Q9BY08; -. DR TreeFam; TF314716; -. DR PathwayCommons; Q9BY08; -. DR SignaLink; Q9BY08; -. DR BioGRID-ORCS; 84650; 30 hits in 1155 CRISPR screens. DR ChiTaRS; EBPL; human. DR GenomeRNAi; 84650; -. DR Pharos; Q9BY08; Tchem. DR PRO; PR:Q9BY08; -. DR Proteomes; UP000005640; Chromosome 13. DR RNAct; Q9BY08; Protein. DR Bgee; ENSG00000123179; Expressed in right lobe of liver and 100 other cell types or tissues. DR ExpressionAtlas; Q9BY08; baseline and differential. DR GO; GO:0005783; C:endoplasmic reticulum; IDA:HPA. DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. DR GO; GO:0047750; F:cholestenol delta-isomerase activity; IEA:InterPro. DR GO; GO:0016125; P:sterol metabolic process; IEA:InterPro. DR InterPro; IPR007905; EBP. DR InterPro; IPR033118; EXPERA. DR PANTHER; PTHR14207:SF4; EMOPAMIL-BINDING PROTEIN-LIKE; 1. DR PANTHER; PTHR14207; STEROL ISOMERASE; 1. DR Pfam; PF05241; EBP; 1. DR PROSITE; PS51751; EXPERA; 1. DR Genevisible; Q9BY08; HS. PE 1: Evidence at protein level; KW Alternative splicing; Endoplasmic reticulum; Membrane; Reference proteome; KW Transmembrane; Transmembrane helix. FT CHAIN 1..206 FT /note="Emopamil-binding protein-like" FT /id="PRO_0000174347" FT TRANSMEM 10..30 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 42..62 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 101..121 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 165..185 FT /note="Helical" FT /evidence="ECO:0000255" FT DOMAIN 39..184 FT /note="EXPERA" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01087" FT VAR_SEQ 58..102 FT /note="EGPFVYLSLVGNVANSDGLIASLWKEYGKADARWVYFDPTIVSVE -> AFP FT ADHPVRVRAVWLLDDLPPRVAHQKPQPQHQQLAVLLALPVFF (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_035417" FT VAR_SEQ 81..152 FT /note="WKEYGKADARWVYFDPTIVSVEILTVALDGSLALFLIYAIVKEKYYRHFLQI FT TLCVCELYGCWMTFLPEWLT -> CESRSVPQAGAQWHHLGSLQAPPPRFTPFSCLSLP FT SSWDYRRPPPRLANFFVFLVETGFHHVSQDGLDLLTS (in isoform 2)" FT /evidence="ECO:0000305" FT /id="VSP_035418" FT VAR_SEQ 81..97 FT /note="WKEYGKADARWVYFDPT -> CISCRSPCACASCMAAG (in isoform FT 4)" FT /evidence="ECO:0000305" FT /id="VSP_035419" FT VAR_SEQ 81..87 FT /note="WKEYGKA -> S (in isoform 5)" FT /evidence="ECO:0000305" FT /id="VSP_035420" FT VAR_SEQ 98..206 FT /note="Missing (in isoform 4)" FT /evidence="ECO:0000305" FT /id="VSP_035421" FT VAR_SEQ 103..206 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_035422" FT VAR_SEQ 128..134 FT /note="HFLQITL -> DRVAWGE (in isoform 5)" FT /evidence="ECO:0000305" FT /id="VSP_035423" FT VAR_SEQ 135..206 FT /note="Missing (in isoform 5)" FT /evidence="ECO:0000305" FT /id="VSP_035424" FT VAR_SEQ 153..206 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000305" FT /id="VSP_035425" FT CONFLICT 31 FT /note="R -> H (in Ref. 4; AAH92471)" FT /evidence="ECO:0000305" SQ SEQUENCE 206 AA; 23204 MW; 7093AC7E638B89D0 CRC64; MGAEWELGAE AGGSLLLCAA LLAAGCALGL RLGRGQGAAD RGALIWLCYD ALVHFALEGP FVYLSLVGNV ANSDGLIASL WKEYGKADAR WVYFDPTIVS VEILTVALDG SLALFLIYAI VKEKYYRHFL QITLCVCELY GCWMTFLPEW LTRSPNLNTS NWLYCWLYLF FFNGVWVLIP GLLLWQSWLE LKKMHQKETS SVKKFQ //