EBPL_HUMAN
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 03-AUG-2022, entry version 144.
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}.
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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; Q9BY08; -.
DR PeptideAtlas; Q9BY08; -.
DR PRIDE; 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; 66 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 CTD; 84650; -.
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; 1323969at2759; -.
DR PhylomeDB; Q9BY08; -.
DR TreeFam; TF314716; -.
DR PathwayCommons; Q9BY08; -.
DR SignaLink; Q9BY08; -.
DR BioGRID-ORCS; 84650; 30 hits in 1075 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 99 other tissues.
DR ExpressionAtlas; Q9BY08; baseline and differential.
DR Genevisible; Q9BY08; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:HPA.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
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; PTHR14207; 1.
DR PROSITE; PS51751; EXPERA; 1.
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
