LERL1_HUMAN
ID LERL1_HUMAN Reviewed; 131 AA.
AC O95214; E9PHP8; Q9BW48;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 13-APR-2004, sequence version 2.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Leptin receptor overlapping transcript-like 1;
DE AltName: Full=Endospanin-2;
GN Name=LEPROTL1; ORFNames=My047, UNQ577/PRO1139;
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).
RC TISSUE=Fetal brain;
RX PubMed=11342119; DOI=10.1016/s0167-4781(00)00266-9;
RA Huang Y., Ying K., Xie Y., Zhou Z., Wang W., Tang R., Zhao W., Zhao S.,
RA Wu H., Gu S., Mao Y.M.;
RT "Cloning and characterization of a novel human leptin receptor overlapping
RT transcript-like 1 gene (LEPROTL1).";
RL Biochim. Biophys. Acta 1517:327-331(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Placenta;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Eye;
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).
RN [6]
RP FUNCTION.
RX PubMed=19907080; DOI=10.1172/jci34997;
RA Touvier T., Conte-Auriol F., Briand O., Cudejko C., Paumelle R., Caron S.,
RA Bauge E., Rouille Y., Salles J.P., Staels B., Bailleul B.;
RT "LEPROT and LEPROTL1 cooperatively decrease hepatic growth hormone action
RT in mice.";
RL J. Clin. Invest. 119:3830-3838(2009).
CC -!- FUNCTION: Negatively regulates growth hormone (GH) receptor cell
CC surface expression in liver. May play a role in liver resistance to GH
CC during periods of reduced nutrient availability.
CC {ECO:0000269|PubMed:19907080}.
CC -!- SUBUNIT: Interacts with RAB13. {ECO:0000250}.
CC -!- INTERACTION:
CC O95214; Q9NRZ5: AGPAT4; NbExp=3; IntAct=EBI-750776, EBI-1754287;
CC O95214; Q3SXY8: ARL13B; NbExp=3; IntAct=EBI-750776, EBI-11343438;
CC O95214; O14523: C2CD2L; NbExp=3; IntAct=EBI-750776, EBI-12822627;
CC O95214; Q08708: CD300C; NbExp=3; IntAct=EBI-750776, EBI-3915344;
CC O95214; P11912: CD79A; NbExp=3; IntAct=EBI-750776, EBI-7797864;
CC O95214; Q8N5K1: CISD2; NbExp=3; IntAct=EBI-750776, EBI-1045797;
CC O95214; O95471: CLDN7; NbExp=3; IntAct=EBI-750776, EBI-740744;
CC O95214; Q9UHP7-3: CLEC2D; NbExp=3; IntAct=EBI-750776, EBI-11749983;
CC O95214; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-750776, EBI-6942903;
CC O95214; P78329: CYP4F2; NbExp=3; IntAct=EBI-750776, EBI-1752413;
CC O95214; Q92838: EDA; NbExp=4; IntAct=EBI-750776, EBI-529425;
CC O95214; Q08426: EHHADH; NbExp=5; IntAct=EBI-750776, EBI-2339219;
CC O95214; Q9GZR5: ELOVL4; NbExp=3; IntAct=EBI-750776, EBI-18535450;
CC O95214; P54849: EMP1; NbExp=3; IntAct=EBI-750776, EBI-4319440;
CC O95214; O15552: FFAR2; NbExp=3; IntAct=EBI-750776, EBI-2833872;
CC O95214; Q01740: FMO1; NbExp=3; IntAct=EBI-750776, EBI-12701460;
CC O95214; P36382: GJA5; NbExp=3; IntAct=EBI-750776, EBI-750433;
CC O95214; P48165: GJA8; NbExp=3; IntAct=EBI-750776, EBI-17458373;
CC O95214; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-750776, EBI-13345167;
CC O95214; O15529: GPR42; NbExp=3; IntAct=EBI-750776, EBI-18076404;
CC O95214; Q8TED1: GPX8; NbExp=3; IntAct=EBI-750776, EBI-11721746;
CC O95214; Q9HDC5: JPH1; NbExp=3; IntAct=EBI-750776, EBI-465137;
CC O95214; P48051: KCNJ6; NbExp=3; IntAct=EBI-750776, EBI-12017638;
CC O95214; Q96E93: KLRG1; NbExp=4; IntAct=EBI-750776, EBI-750770;
CC O95214; O95214: LEPROTL1; NbExp=3; IntAct=EBI-750776, EBI-750776;
CC O95214; Q8WVP7: LMBR1; NbExp=3; IntAct=EBI-750776, EBI-6138627;
CC O95214; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-750776, EBI-739832;
CC O95214; Q9UBY5: LPAR3; NbExp=3; IntAct=EBI-750776, EBI-12033434;
CC O95214; Q9HCJ2: LRRC4C; NbExp=3; IntAct=EBI-750776, EBI-3925442;
CC O95214; Q13021: MALL; NbExp=3; IntAct=EBI-750776, EBI-750078;
CC O95214; Q5SR56: MFSD14B; NbExp=3; IntAct=EBI-750776, EBI-373355;
CC O95214; P21757: MSR1; NbExp=4; IntAct=EBI-750776, EBI-1776976;
CC O95214; Q9UHE5: NAT8; NbExp=3; IntAct=EBI-750776, EBI-2863634;
CC O95214; O95167: NDUFA3; NbExp=3; IntAct=EBI-750776, EBI-1246131;
CC O95214; Q8IXM6: NRM; NbExp=3; IntAct=EBI-750776, EBI-10262547;
CC O95214; Q9P0S3: ORMDL1; NbExp=3; IntAct=EBI-750776, EBI-1054848;
CC O95214; Q8N138: ORMDL3; NbExp=3; IntAct=EBI-750776, EBI-721750;
CC O95214; Q8TEZ7: PAQR8; NbExp=3; IntAct=EBI-750776, EBI-12847818;
CC O95214; Q13113: PDZK1IP1; NbExp=3; IntAct=EBI-750776, EBI-716063;
CC O95214; Q9Y5Y5: PEX16; NbExp=3; IntAct=EBI-750776, EBI-981985;
CC O95214; P60201-2: PLP1; NbExp=3; IntAct=EBI-750776, EBI-12188331;
CC O95214; Q8N0V3: RBFA; NbExp=3; IntAct=EBI-750776, EBI-3232108;
CC O95214; Q9H6H4: REEP4; NbExp=3; IntAct=EBI-750776, EBI-7545592;
CC O95214; Q96HR9-2: REEP6; NbExp=3; IntAct=EBI-750776, EBI-14065960;
CC O95214; Q99942: RNF5; NbExp=3; IntAct=EBI-750776, EBI-348482;
CC O95214; Q5QGT7: RTP2; NbExp=3; IntAct=EBI-750776, EBI-10244780;
CC O95214; Q9NY72: SCN3B; NbExp=3; IntAct=EBI-750776, EBI-17247926;
CC O95214; O00560: SDCBP; NbExp=3; IntAct=EBI-750776, EBI-727004;
CC O95214; A0A1P0AYU5: SFXN3; NbExp=3; IntAct=EBI-750776, EBI-14193895;
CC O95214; Q96AG3: SLC25A46; NbExp=3; IntAct=EBI-750776, EBI-10281975;
CC O95214; O14863: SLC30A4; NbExp=3; IntAct=EBI-750776, EBI-13918058;
CC O95214; Q9NQQ7-3: SLC35C2; NbExp=3; IntAct=EBI-750776, EBI-17295964;
CC O95214; P30825: SLC7A1; NbExp=3; IntAct=EBI-750776, EBI-4289564;
CC O95214; Q9NRQ5: SMCO4; NbExp=3; IntAct=EBI-750776, EBI-8640191;
CC O95214; Q9NZD8: SPG21; NbExp=3; IntAct=EBI-750776, EBI-742688;
CC O95214; Q8WWF3: SSMEM1; NbExp=3; IntAct=EBI-750776, EBI-17280858;
CC O95214; Q86WV6: STING1; NbExp=3; IntAct=EBI-750776, EBI-2800345;
CC O95214; Q86Y82: STX12; NbExp=3; IntAct=EBI-750776, EBI-2691717;
CC O95214; Q9H7V2: SYNDIG1; NbExp=3; IntAct=EBI-750776, EBI-726331;
CC O95214; P01135-2: TGFA; NbExp=3; IntAct=EBI-750776, EBI-12367411;
CC O95214; P17152: TMEM11; NbExp=3; IntAct=EBI-750776, EBI-723946;
CC O95214; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-750776, EBI-8638294;
CC O95214; Q96HH6: TMEM19; NbExp=3; IntAct=EBI-750776, EBI-741829;
CC O95214; Q96Q45-2: TMEM237; NbExp=3; IntAct=EBI-750776, EBI-10982110;
CC O95214; Q9NWD8: TMEM248; NbExp=3; IntAct=EBI-750776, EBI-10314986;
CC O95214; Q69YG0: TMEM42; NbExp=3; IntAct=EBI-750776, EBI-12038591;
CC O95214; O95807: TMEM50A; NbExp=3; IntAct=EBI-750776, EBI-12903814;
CC O95214; P56557: TMEM50B; NbExp=3; IntAct=EBI-750776, EBI-12366453;
CC O95214; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-750776, EBI-2852148;
CC O95214; Q9Y320: TMX2; NbExp=3; IntAct=EBI-750776, EBI-6447886;
CC O95214; A0AVG3: TSNARE1; NbExp=3; IntAct=EBI-750776, EBI-12003468;
CC O95214; O60636: TSPAN2; NbExp=3; IntAct=EBI-750776, EBI-3914288;
CC O95214; A6NH52: TVP23A; NbExp=3; IntAct=EBI-750776, EBI-13296313;
CC O95214; Q9P0L0: VAPA; NbExp=3; IntAct=EBI-750776, EBI-1059156;
CC O95214; Q9BWQ6: YIPF2; NbExp=3; IntAct=EBI-750776, EBI-751204;
CC O95214; Q96MV8: ZDHHC15; NbExp=3; IntAct=EBI-750776, EBI-12837904;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O95214-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95214-2; Sequence=VSP_046307;
CC -!- TISSUE SPECIFICITY: Widely expressed, with highest expression in heart,
CC testis, adrenal gland, thymus, and spleen, and lowest expression in
CC lung and skeletal muscle.
CC -!- SIMILARITY: Belongs to the OB-RGRP/VPS55 family. {ECO:0000305}.
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DR EMBL; AF063605; AAC98697.1; -; mRNA.
DR EMBL; AY358674; AAQ89037.1; -; mRNA.
DR EMBL; AC026979; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC044849; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL546441; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC000642; AAH00642.1; -; mRNA.
DR CCDS; CCDS47834.1; -. [O95214-2]
DR CCDS; CCDS6075.1; -. [O95214-1]
DR RefSeq; NP_001121680.1; NM_001128208.1. [O95214-2]
DR RefSeq; NP_056159.2; NM_015344.2. [O95214-1]
DR AlphaFoldDB; O95214; -.
DR BioGRID; 117042; 77.
DR IntAct; O95214; 75.
DR STRING; 9606.ENSP00000428281; -.
DR SwissPalm; O95214; -.
DR BioMuta; LEPROTL1; -.
DR EPD; O95214; -.
DR jPOST; O95214; -.
DR MassIVE; O95214; -.
DR MaxQB; O95214; -.
DR PaxDb; O95214; -.
DR PeptideAtlas; O95214; -.
DR PRIDE; O95214; -.
DR ProteomicsDB; 20577; -.
DR ProteomicsDB; 50721; -. [O95214-1]
DR Antibodypedia; 63110; 26 antibodies from 10 providers.
DR DNASU; 23484; -.
DR Ensembl; ENST00000321250.13; ENSP00000314625.8; ENSG00000104660.19. [O95214-1]
DR Ensembl; ENST00000523116.5; ENSP00000428281.1; ENSG00000104660.19. [O95214-2]
DR GeneID; 23484; -.
DR KEGG; hsa:23484; -.
DR MANE-Select; ENST00000321250.13; ENSP00000314625.8; NM_015344.3; NP_056159.2.
DR UCSC; uc003xhx.3; human. [O95214-1]
DR CTD; 23484; -.
DR DisGeNET; 23484; -.
DR GeneCards; LEPROTL1; -.
DR HGNC; HGNC:6555; LEPROTL1.
DR HPA; ENSG00000104660; Low tissue specificity.
DR MIM; 607338; gene.
DR neXtProt; NX_O95214; -.
DR OpenTargets; ENSG00000104660; -.
DR PharmGKB; PA30334; -.
DR VEuPathDB; HostDB:ENSG00000104660; -.
DR eggNOG; KOG2174; Eukaryota.
DR GeneTree; ENSGT00390000006503; -.
DR HOGENOM; CLU_1577984_0_0_1; -.
DR InParanoid; O95214; -.
DR OMA; HSAVITW; -.
DR OrthoDB; 1642378at2759; -.
DR PhylomeDB; O95214; -.
DR TreeFam; TF313689; -.
DR PathwayCommons; O95214; -.
DR SignaLink; O95214; -.
DR BioGRID-ORCS; 23484; 13 hits in 1078 CRISPR screens.
DR ChiTaRS; LEPROTL1; human.
DR GenomeRNAi; 23484; -.
DR Pharos; O95214; Tdark.
DR PRO; PR:O95214; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; O95214; protein.
DR Bgee; ENSG00000104660; Expressed in decidua and 206 other tissues.
DR ExpressionAtlas; O95214; baseline and differential.
DR Genevisible; O95214; HS.
DR GO; GO:0005768; C:endosome; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0032511; P:late endosome to vacuole transport via multivesicular body sorting pathway; IBA:GO_Central.
DR GO; GO:0060400; P:negative regulation of growth hormone receptor signaling pathway; IBA:GO_Central.
DR InterPro; IPR007262; Vps55/LEPROT.
DR PANTHER; PTHR12050; PTHR12050; 1.
DR Pfam; PF04133; Vps55; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..131
FT /note="Leptin receptor overlapping transcript-like 1"
FT /id="PRO_0000215197"
FT TRANSMEM 7..27
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 32..52
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 69..89
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 100..120
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 94..131
FT /note="IEWGACALVLTGNTVIFATILGFFLVFGSNDDFSWQQW -> MGRLPFFSKM
FT GTAESEGRETLTQQLPLPAAAMRRLLPASRVSTQPVLRLADSAESLLGRPALWALGFLL
FT CPPSQAQ (in isoform 2)"
FT /evidence="ECO:0000303|Ref.3"
FT /id="VSP_046307"
FT CONFLICT 123
FT /note="N -> K (in Ref. 1; AAC98697)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 131 AA; 14428 MW; E5E75B7C77A99DD7 CRC64;
MAGIKALISL SFGGAIGLMF LMLGCALPIY NKYWPLFVLF FYILSPIPYC IARRLVDDTD
AMSNACKELA IFLTTGIVVS AFGLPIVFAR AHLIEWGACA LVLTGNTVIF ATILGFFLVF
GSNDDFSWQQ W
