LOCUS       NM_017526               4541 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens leptin receptor overlapping transcript (LEPROT),
            transcript variant 1, mRNA.
ACCESSION   NM_017526
VERSION     NM_017526.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4541)
  AUTHORS   Roca-Rivada,A., Do Cruzeiro,M., Denis,R.G., Zhang,Q., Rouault,C.,
            Rouille,Y., Launay,J.M., Cruciani-Guglielmacci,C., Mattot,V.,
            Clement,K., Jockers,R. and Dam,J.
  TITLE     Whole-body deletion of Endospanin 1 protects from
            obesity-associated deleterious metabolic alterations
  JOURNAL   JCI Insight 9 (9), e168418 (2024)
   PUBMED   38716728
  REMARK    GeneRIF: Whole-body deletion of Endospanin 1 protects from
            obesity-associated deleterious metabolic alterations.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4541)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4541)
  AUTHORS   Hasson,S.A., Kane,L.A., Yamano,K., Huang,C.H., Sliter,D.A.,
            Buehler,E., Wang,C., Heman-Ackah,S.M., Hessa,T., Guha,R.,
            Martin,S.E. and Youle,R.J.
  TITLE     High-content genome-wide RNAi screens identify regulators of parkin
            upstream of mitophagy
  JOURNAL   Nature 504 (7479), 291-295 (2013)
   PUBMED   24270810
REFERENCE   4  (bases 1 to 4541)
  AUTHORS   Seron,K., Couturier,C., Belouzard,S., Bacart,J., Monte,D.,
            Corset,L., Bocquet,O., Dam,J., Vauthier,V., Lecoeur,C.,
            Bailleul,B., Hoflack,B., Froguel,P., Jockers,R. and Rouille,Y.
  TITLE     Endospanins regulate a postinternalization step of the leptin
            receptor endocytic pathway
  JOURNAL   J Biol Chem 286 (20), 17968-17981 (2011)
   PUBMED   21454707
REFERENCE   5  (bases 1 to 4541)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   6  (bases 1 to 4541)
  AUTHORS   Touvier,T., Conte-Auriol,F., Briand,O., Cudejko,C., Paumelle,R.,
            Caron,S., Bauge,E., Rouille,Y., Salles,J.P., Staels,B. and
            Bailleul,B.
  TITLE     LEPROT and LEPROTL1 cooperatively decrease hepatic growth hormone
            action in mice
  JOURNAL   J Clin Invest 119 (12), 3830-3838 (2009)
   PUBMED   19907080
  REMARK    GeneRIF: Transgenic mice expressing either human LEPROT or human
            LEPROTL1 displayed growth retardation, reduced plasma IGF1 levels,
            and impaired hepatic sensitivity to GH, as measured by STAT5
            phosphorylation and Socs2 mRNA expression.
REFERENCE   7  (bases 1 to 4541)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 4541)
  AUTHORS   Couturier,C., Sarkis,C., Seron,K., Belouzard,S., Chen,P.,
            Lenain,A., Corset,L., Dam,J., Vauthier,V., Dubart,A., Mallet,J.,
            Froguel,P., Rouille,Y. and Jockers,R.
  TITLE     Silencing of OB-RGRP in mouse hypothalamic arcuate nucleus
            increases leptin receptor signaling and prevents diet-induced
            obesity
  JOURNAL   Proc Natl Acad Sci U S A 104 (49), 19476-19481 (2007)
   PUBMED   18042720
REFERENCE   9  (bases 1 to 4541)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   10 (bases 1 to 4541)
  AUTHORS   Bailleul,B., Akerblom,I. and Strosberg,A.D.
  TITLE     The leptin receptor promoter controls expression of a second
            distinct protein
  JOURNAL   Nucleic Acids Res 25 (14), 2752-2758 (1997)
   PUBMED   9207021
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Y12670.1, AC119800.2 and CA434795.1.
            
            On Nov 22, 2018 this sequence version replaced NM_017526.4.
            
            Summary: LEPROT is associated with the Golgi complex and endosomes
            and has a role in cell surface expression of growth hormone
            receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM
            601007), thereby altering receptor-mediated cell signaling
            (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009
            [PubMed 19907080]).[supplied by OMIM, Jul 2010].
            
            Transcript Variant: This variant (1) is dominant and encodes the
            shorter isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.208508.1,
                                           SRR1803616.221243.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371065.9/ ENSP00000360104.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1101              Y12670.1           14-1114
            1102-4209           AC119800.2         30763-33870
            4210-4541           CA434795.1         17-348              c
FEATURES             Location/Qualifiers
     source          1..4541
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.3"
     gene            1..4541
                     /gene="LEPROT"
                     /gene_synonym="LEPR; OB-RGRP; OBRGRP; VPS55"
                     /note="leptin receptor overlapping transcript"
                     /db_xref="GeneID:54741"
                     /db_xref="HGNC:HGNC:29477"
                     /db_xref="MIM:613461"
     exon            1..73
                     /gene="LEPROT"
                     /gene_synonym="LEPR; OB-RGRP; OBRGRP; VPS55"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..453
                     /gene="LEPROT"
                     /gene_synonym="LEPR; OB-RGRP; OBRGRP; VPS55"
                     /note="isoform 1 is encoded by transcript variant 1; OB-R
                     gene-related protein; DnaJ (Hsp40) homolog, subfamily C,
                     member 6; leptin receptor overlapping transcript protein;
                     endospanin-1; leptin receptor gene-related protein"
                     /codon_start=1
                     /product="leptin receptor gene-related protein isoform 1"
                     /protein_id="NP_059996.1"
                     /db_xref="CCDS:CCDS630.1"
                     /db_xref="GeneID:54741"
                     /db_xref="HGNC:HGNC:29477"
                     /db_xref="MIM:613461"
                     /translation="MAGVKALVALSFSGAIGLTFLMLGCALEDYGVYWPLFVLIFHAI
                     SPIPHFIAKRVTYDSDATSSACRELAYFFTTGIVVSAFGFPVILARVAVIKWGACGLV
                     LAGNAVIFLTIQGFFLIFGRGDDFSWEQW"
     exon            74..149
                     /gene="LEPROT"
                     /gene_synonym="LEPR; OB-RGRP; OBRGRP; VPS55"
                     /inference="alignment:Splign:2.1.0"
     exon            150..336
                     /gene="LEPROT"
                     /gene_synonym="LEPR; OB-RGRP; OBRGRP; VPS55"
                     /inference="alignment:Splign:2.1.0"
     exon            337..4541
                     /gene="LEPROT"
                     /gene_synonym="LEPR; OB-RGRP; OBRGRP; VPS55"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2315..2320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LEPROT"
                     /gene_synonym="LEPR; OB-RGRP; OBRGRP; VPS55"
                     /note="hexamer: AATAAA"
     polyA_site      2340
                     /gene="LEPROT"
                     /gene_synonym="LEPR; OB-RGRP; OBRGRP; VPS55"
                     /note="major polyA site"
     regulatory      4516..4521
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LEPROT"
                     /gene_synonym="LEPR; OB-RGRP; OBRGRP; VPS55"
                     /note="hexamer: AATAAA"
     polyA_site      4541
                     /gene="LEPROT"
                     /gene_synonym="LEPR; OB-RGRP; OBRGRP; VPS55"
ORIGIN      
        1 aggctgcccg ggccgtggca ggaagccgga agcagccgcg gccccagttc gggagacatg
       61 gcgggcgtta aagctctcgt ggcattatcc ttcagtgggg ctattggact gacttttctt
      121 atgctgggat gtgccttaga ggattatggc gtttactggc ccttattcgt cctgattttc
      181 cacgccatct cccccatccc ccatttcatt gccaaaagag tcacctatga ctcagatgca
      241 accagtagtg cctgtcggga actggcatat ttcttcacta ctggaattgt tgtttctgcc
      301 tttggatttc ctgttattct tgctcgtgtg gctgtgatca aatggggagc ctgcggcctt
      361 gtgttggcag gcaatgcagt cattttcctt acaattcaag ggtttttcct tatatttgga
      421 agaggagatg attttagctg ggagcagtgg tagcacttta ttctgattac agtgcattga
      481 atttcttaga actcatacta tctgtataca tgtgcacatg cggcatttta ctatgaaatt
      541 taatatgctg ggttttttaa tacctttata tatcatgttc actttaagaa agacttcata
      601 agtaggagat gagttttatt ctcagcaaat agacctgtca aatttagatt atgttactca
      661 aattatgtta cttgtttggc tgttcatgta gtcacggtgc tctcagaaaa tatattaacg
      721 cagtcttgta ggcagctgcc accttatgca gtgcatcgaa accttttgct tggggatgtg
      781 cttggagagg cagataacgc tgaagcaggc ctctcatgac ccaggaaggc cggggtggat
      841 ccctctttgt gttgtagtcc atgctattaa aagtgtggcc cacagaccaa gagcctcaac
      901 atttcctaga gccttattag aaatgcagaa tctgaagccc cactctggac ccaggacatt
      961 ttgatgagat ccaaaggagt tgtatgcaca tgaaagtttg agaagcatca tcatagagaa
     1021 gtaaacatca cacccaactt ccttatcttt ccagtggcta aaccacttaa cctctctggg
     1081 tgttacctgc tcatttgttt aaaaaaaaaa aaaaagtctc acctgctttc atgctgagga
     1141 caagttcaga tgttcaagcc tataatattt aggcagttcc tcaaatttat gaaaagtgtt
     1201 ctcagaattg ggagacagtc aaagggtaca aagcctcagt taggaggaat aagtgtgatt
     1261 tttttttaaa gatcacttgc acagcatgct aaatatagga ataattgaat gtatatttca
     1321 atattgctaa gagagtaaat ttctaatgtt ctcataaaaa agttaaatat ttgagatcat
     1381 atgttaatta gtgtaatcat tccaccttat attcaaaaat cataaaaccg tattgtaccc
     1441 tataaaaata tacaataatt tgtcaatata taatcaaaat aaaaaacaaa acatactctc
     1501 tcccccaaaa aaacatctca gtggggaaca gatgtatctt ttcatctgaa agacaatgct
     1561 gggggaagag ctccactgag atgcgggcag ggaggctggg ctcgagccag cccctgcgtt
     1621 agcaggaggg ggagaacaga taggtaactc ttttacattt cctttatgat ctggcacttc
     1681 tccccagctc cttccctctg ccccccaccc ctactcctca acagttctgg tttgccctga
     1741 cttctctacg gctctggctt cttcccgaag agatatagga gccatgtaag cacgcagtgg
     1801 gtgaactgct taatttcact acgtgttgat gtacttgtct tccgtcctgt aggtcttttc
     1861 tatataactt tatgccaccc ttaaatgaat cattgggtat acctgtcatg ttggatcctg
     1921 taatcacagt tttccctgct cacctttttg tctaagatct attgagaaag ggaaatatgg
     1981 gaaggagaac catttgatca gaatacaacc aatagtcttt aagcattgtt aaagtatgaa
     2041 actgaaatac attcaaaaca cttaatcctt gaggcttgtg atctgagtaa ttagcaggta
     2101 tgatgctggg actggaaaat agaaagtaat aactaaaggg ttaatgtgca acgttatttt
     2161 ttggccttgt tcatgatttt atgttttcag tgtcctgtgt acatatagaa ttgttaaagt
     2221 tgtcatttcc aatatttata ttagaaaaat tatttagata ctttataatt ttaaccggca
     2281 tttttaataa tgacacttgc atttattgta ttgtaataaa tttcactttt aactttaaaa
     2341 gtttaacttt aaaatttttt tgtgatgttg ccttgcctga aaagataaca aaaatgagag
     2401 aatttcttga tgttttaaaa tgggcagttt tgagcaataa tctgtcctaa cagaacagta
     2461 gcaataagtt ttaggatacc atcttgaatg tctagttggt gtgcaatagc ttttctttct
     2521 aagatggcaa taatgattca tttctactac attttgcaaa agtgtttttg ttgcttatac
     2581 acattttcaa taaccaaggt agccttcata tgtagcctta aagcattacc tcttgattgt
     2641 atctttagat tgatataaag tacttgcata tagagtattt gaagtgatag attattagat
     2701 ttgctctatg tctgaaaaga gagctattct gcagtgccta aatatcattt aaacagtaaa
     2761 tattaatagg aaatattgct atatctgaat atataataca aaagtttgat catggtgaca
     2821 caaatgttgg acattttttt ccttataaaa ggctcttttt ttatatattg tacaatatat
     2881 ttggagattc agagcatagt gactatagtc gaaaactgag attgcacttc caaaattggc
     2941 cacaagtaaa taatcttatg aagggattct ttatcatgtt tcaaacaagt gggttacaag
     3001 cagactttga gacacttttc cacagaaaca atactatgaa ttggtgattg agttcccagg
     3061 ccaagcctcc ctcaacaggt tcaactctaa tatacctaac ctgtgatact gaaggtgcct
     3121 gcctgagttt tgggtctctg agacagggta gtgtgagtag tttggaggaa ggacagtgca
     3181 actttccacc ccttttccta agaacaaggt ctttctcctt ttaatttttc cactcatttt
     3241 cacctcctaa tgcccttgag atccaggtac actcctggga gttttgttca cctctcccaa
     3301 ctgagaacct tcccactggg ctccatcctc cctcctgagg ttcttcatat tccagagtca
     3361 cccacccttc tcctcccatt agtcagttct ctaagtacag ctgatgtcat gtggtgctga
     3421 gaagaaagca gatcacactt catcacagaa agaatgcctt gtgattatct tctccacatc
     3481 tgaaattcct tttgacacct gcattgggcc gactgccatt cccatgactg ctgcacctgc
     3541 gtttttagag aatgcctcat aacccactga ttctcattca cagagaatgg gagaacggaa
     3601 tgaagaaaga ttccagcagc ttatagaagg atagcaatat tttgggacag ggaaaatcct
     3661 gtcatacctc atctcttcct caggaggagt tctgagctgg tcctgctttt catagttgtt
     3721 tcttttcttc cacttaagaa ctcatagatt tttcttactg tcctaaggaa gtccttacct
     3781 ctgaggtatc tcctcaatga atactgtttt caaggctgaa atagttcatt atgttaataa
     3841 ccttctttat gttctcaggg aaatgcttag gtggtgtcac aaaatgtgcc ttttcttttc
     3901 tttttttttt tttttttttg aggcagagtc tcgctctgtt gcccaggctg gagtgcagtg
     3961 gtgcgatctt ggctcactgc aagctccgcc tcccgggttc acgccattct cctgcctcag
     4021 cctcccaagg agctgggact acaggctccc gccaccacgc ctggctaatt tttttgtatt
     4081 tttagtaaag acgggtttca tcgtgttagc caggatggtc tcgatctcct gacctcatga
     4141 tccgcccgcc tctgcctccc aaagtgctgg gattacaggc ctgagccact gtgcccagcc
     4201 aaaatgtgcc tttgcaaagt ttgcgaaatc agattttgta tcccaataga accaaaatat
     4261 ttatgaggat gctagcattt tccaagcata gtaattagtt cacaactgag aaatattatg
     4321 tctgtagtag ataaatatta gttgtgcatt ttaatttaat tctccttttt ccattttgtc
     4381 tcatgaagta ccttattgca aaaatcccac tgagtaatag ctcataaatt ataatctttc
     4441 aaatagccat gctaccagcg tacaacagtg atacatgtaa ccccaaatgt gatgtgagag
     4501 gacgattact ttgtaaataa aacttgttat tgacatttta a
//
