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P48357

- LEPR_HUMAN

UniProt

P48357 - LEPR_HUMAN

Protein

Leptin receptor

Gene

LEPR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 162 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Receptor for obesity factor (leptin). On ligand binding, mediates signaling through JAK2/STAT3. Involved in the regulation of fat metabolism and, in a hematopoietic pathway, required for normal lymphopoiesis. May play a role in reproduction. Can also mediate the ERK/FOS signaling pathway By similarity.By similarity

    GO - Molecular functioni

    1. cytokine receptor activity Source: InterPro
    2. identical protein binding Source: IntAct
    3. protein binding Source: IntAct
    4. transmembrane signaling receptor activity Source: ProtInc

    GO - Biological processi

    1. cell surface receptor signaling pathway Source: ProtInc
    2. cholesterol metabolic process Source: Ensembl
    3. energy reserve metabolic process Source: ProtInc
    4. multicellular organismal development Source: ProtInc
    5. negative regulation of hydrolase activity Source: Ensembl

    Keywords - Molecular functioni

    Receptor

    Enzyme and pathway databases

    ReactomeiREACT_169118. Signaling by Leptin.
    SignaLinkiP48357.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Leptin receptor
    Short name:
    LEP-R
    Alternative name(s):
    HuB219
    OB receptor
    Short name:
    OB-R
    CD_antigen: CD295
    Gene namesi
    Name:LEPR
    Synonyms:DB, OBR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:6554. LEPR.

    Subcellular locationi

    GO - Cellular componenti

    1. extracellular region Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: Reactome
    4. receptor complex Source: MGI

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Leptin receptor deficiency (LEPRD) [MIM:614963]: A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi986 – 9861Y → F: Greatly reduced PTPN11 binding; no PTPN11 phosphorylation; no effect on STAT3 phosphorylation. 1 Publication
    Mutagenesisi1078 – 10792YY → FF: No effect on PTPN11 nor STAT3 phosphorylation.
    Mutagenesisi1141 – 11411Y → F: No effect on PTPN11 phosphorylation; no STAT3 phosphorylation. 1 Publication

    Keywords - Diseasei

    Obesity

    Organism-specific databases

    MIMi614963. phenotype.
    Orphaneti179494. Obesity due to leptin receptor gene deficiency.
    PharmGKBiPA229.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Add
    BLAST
    Chaini22 – 11651144Leptin receptorPRO_0000010904Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi23 – 231N-linked (GlcNAc...)1 Publication
    Disulfide bondi37 ↔ 90
    Glycosylationi41 – 411N-linked (GlcNAc...)1 Publication
    Glycosylationi56 – 561N-linked (GlcNAc...)1 Publication
    Glycosylationi73 – 731N-linked (GlcNAc...)1 Publication
    Glycosylationi81 – 811N-linked (GlcNAc...)1 Publication
    Disulfide bondi89 ↔ 99
    Glycosylationi98 – 981N-linked (GlcNAc...)1 Publication
    Disulfide bondi131 ↔ 142
    Disulfide bondi186 ↔ 196
    Glycosylationi187 – 1871N-linked (GlcNAc...)1 Publication
    Disulfide bondi188 ↔ 193
    Glycosylationi206 – 2061N-linked (GlcNAc...)1 Publication
    Glycosylationi276 – 2761N-linked (GlcNAc...)3 Publications
    Glycosylationi347 – 3471N-linked (GlcNAc...)1 Publication
    Disulfide bondi352 ↔ 412
    Glycosylationi397 – 3971N-linked (GlcNAc...)2 Publications
    Disulfide bondi413 ↔ 418
    Disulfide bondi436 ↔ 447
    Disulfide bondi473 ↔ 528
    Disulfide bondi488 ↔ 498
    Glycosylationi516 – 5161N-linked (GlcNAc...)2 Publications
    Glycosylationi624 – 6241N-linked (GlcNAc...)1 Publication
    Glycosylationi659 – 6591N-linked (GlcNAc...)1 Publication
    Glycosylationi688 – 6881N-linked (GlcNAc...)1 Publication
    Glycosylationi697 – 6971N-linked (GlcNAc...)1 Publication
    Glycosylationi728 – 7281N-linked (GlcNAc...)1 Publication
    Glycosylationi750 – 7501N-linked (GlcNAc...)1 Publication
    Modified residuei986 – 9861Phosphotyrosine; by JAK2By similarity
    Modified residuei1079 – 10791PhosphotyrosineBy similarity
    Modified residuei1141 – 11411Phosphotyrosine; by JAK2By similarity

    Post-translational modificationi

    On ligand binding, phosphorylated on two conserved C-terminal tyrosine residues (isoform B only) by JAK2. Tyr-986 is required for complete binding and activation of PTPN11, ERK/FOS activation and, for interaction with SOCS3 By similarity. Phosphorylation on Tyr-1141 is required for STAT3 binding/activation.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP48357.
    PaxDbiP48357.
    PRIDEiP48357.

    PTM databases

    PhosphoSiteiP48357.

    Expressioni

    Tissue specificityi

    Isoform A is expressed in fetal liver and in hematopoietic tissues and choroid plexus. In adults highest expression in heart, liver, small intestine, prostate and ovary. Low level in lung and kidney. Isoform B is highly expressed in hypothalamus.

    Gene expression databases

    ArrayExpressiP48357.
    BgeeiP48357.
    CleanExiHS_LEPR.
    GenevestigatoriP48357.

    Organism-specific databases

    HPAiHPA030899.

    Interactioni

    Subunit structurei

    On leptin stimulation, homodimerizes. The phosphorylated receptor binds a number of SH2 domain-containing proteins such as STAT3, PTPN11, and SOCS3 By similarity. Interaction with SOCS3 inhibits LRb signaling By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    GRB2P629933EBI-518596,EBI-401755
    UBCP0CG482EBI-7886448,EBI-3390054

    Protein-protein interaction databases

    BioGridi110144. 11 interactions.
    DIPiDIP-6117N.
    IntActiP48357. 9 interactions.
    MINTiMINT-1387953.
    STRINGi9606.ENSP00000330393.

    Structurei

    Secondary structure

    1
    1165
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi435 – 4384
    Beta strandi445 – 4495
    Beta strandi461 – 4688
    Beta strandi484 – 4863
    Beta strandi488 – 4903
    Beta strandi496 – 5005
    Beta strandi509 – 5168
    Beta strandi527 – 5293
    Helixi531 – 5344
    Beta strandi544 – 5485
    Turni549 – 5524
    Beta strandi553 – 5575
    Beta strandi568 – 58013
    Beta strandi584 – 5885
    Beta strandi595 – 5984
    Beta strandi607 – 6159

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3V6OX-ray1.95A/B428-633[»]
    ProteinModelPortaliP48357.
    SMRiP48357. Positions 193-325, 337-830.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini22 – 839818ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini863 – 1165303CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei840 – 86223HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini239 – 33395Fibronectin type-III 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini331 – 42999Ig-likeAdd
    BLAST
    Domaini539 – 63496Fibronectin type-III 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini639 – 73294Fibronectin type-III 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini740 – 83394Fibronectin type-III 4PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni467 – 48418Leptin-bindingCuratedAdd
    BLAST
    Regioni893 – 8986Required for JAK2 activationBy similarity

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi622 – 6265WSXWS motif
    Motifi871 – 8799Box 1 motif

    Domaini

    The cytoplasmic domain may be essential for intracellular signal transduction by activation of JAK tyrosine kinase and STATs.
    The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
    The box 1 motif is required for JAK interaction and/or activation.

    Sequence similaritiesi

    Contains 4 fibronectin type-III domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG29456.
    HOVERGENiHBG000140.
    InParanoidiP48357.
    KOiK05062.
    OMAiSWAQGLN.
    OrthoDBiEOG7034GB.
    PhylomeDBiP48357.
    TreeFamiTF106501.

    Family and domain databases

    Gene3Di2.60.40.10. 4 hits.
    InterProiIPR003961. Fibronectin_type3.
    IPR003529. Hematopoietin_rcpt_Gp130_CS.
    IPR003531. Hempt_rcpt_S_F1_CS.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR010457. IgC2-like_lig-bd.
    IPR015752. Lep_receptor.
    [Graphical view]
    PANTHERiPTHR23036:SF11. PTHR23036:SF11. 1 hit.
    PfamiPF06328. Lep_receptor_Ig. 1 hit.
    [Graphical view]
    SMARTiSM00060. FN3. 4 hits.
    [Graphical view]
    SUPFAMiSSF49265. SSF49265. 4 hits.
    PROSITEiPS50853. FN3. 3 hits.
    PS01353. HEMATOPO_REC_L_F2. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform B (identifier: P48357-1) [UniParc]FASTAAdd to Basket

    Also known as: 13.2, OBRb

    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.

    « Hide

    MICQKFCVVL LHWEFIYVIT AFNLSYPITP WRFKLSCMPP NSTYDYFLLP     50
    AGLSKNTSNS NGHYETAVEP KFNSSGTHFS NLSKTTFHCC FRSEQDRNCS 100
    LCADNIEGKT FVSTVNSLVF QQIDANWNIQ CWLKGDLKLF ICYVESLFKN 150
    LFRNYNYKVH LLYVLPEVLE DSPLVPQKGS FQMVHCNCSV HECCECLVPV 200
    PTAKLNDTLL MCLKITSGGV IFQSPLMSVQ PINMVKPDPP LGLHMEITDD 250
    GNLKISWSSP PLVPFPLQYQ VKYSENSTTV IREADKIVSA TSLLVDSILP 300
    GSSYEVQVRG KRLDGPGIWS DWSTPRVFTT QDVIYFPPKI LTSVGSNVSF 350
    HCIYKKENKI VPSKEIVWWM NLAEKIPQSQ YDVVSDHVSK VTFFNLNETK 400
    PRGKFTYDAV YCCNEHECHH RYAELYVIDV NINISCETDG YLTKMTCRWS 450
    TSTIQSLAES TLQLRYHRSS LYCSDIPSIH PISEPKDCYL QSDGFYECIF 500
    QPIFLLSGYT MWIRINHSLG SLDSPPTCVL PDSVVKPLPP SSVKAEITIN 550
    IGLLKISWEK PVFPENNLQF QIRYGLSGKE VQWKMYEVYD AKSKSVSLPV 600
    PDLCAVYAVQ VRCKRLDGLG YWSNWSNPAY TVVMDIKVPM RGPEFWRIIN 650
    GDTMKKEKNV TLLWKPLMKN DSLCSVQRYV INHHTSCNGT WSEDVGNHTK 700
    FTFLWTEQAH TVTVLAINSI GASVANFNLT FSWPMSKVNI VQSLSAYPLN 750
    SSCVIVSWIL SPSDYKLMYF IIEWKNLNED GEIKWLRISS SVKKYYIHDH 800
    FIPIEKYQFS LYPIFMEGVG KPKIINSFTQ DDIEKHQSDA GLYVIVPVII 850
    SSSILLLGTL LISHQRMKKL FWEDVPNPKN CSWAQGLNFQ KPETFEHLFI 900
    KHTASVTCGP LLLEPETISE DISVDTSWKN KDEMMPTTVV SLLSTTDLEK 950
    GSVCISDQFN SVNFSEAEGT EVTYEDESQR QPFVKYATLI SNSKPSETGE 1000
    EQGLINSSVT KCFSSKNSPL KDSFSNSSWE IEAQAFFILS DQHPNIISPH 1050
    LTFSEGLDEL LKLEGNFPEE NNDKKSIYYL GVTSIKKRES GVLLTDKSRV 1100
    SCPFPAPCLF TDIRVLQDSC SHFVENNINL GTSSKKTFAS YMPQFQTCST 1150
    QTHKIMENKM CDLTV 1165
    Length:1,165
    Mass (Da):132,494
    Last modified:October 17, 2006 - v2
    Checksum:iCAA03BEAF2602D0A
    GO
    Isoform A (identifier: P48357-2) [UniParc]FASTAAdd to Basket

    Also known as: 6.4, HuB219.3

    The sequence of this isoform differs from the canonical sequence as follows:
         892-896: PETFE → RTDIL
         897-1165: Missing.

    Show »
    Length:896
    Mass (Da):102,490
    Checksum:iD371C7A4186DEEF3
    GO
    Isoform C (identifier: P48357-3) [UniParc]FASTAAdd to Basket

    Also known as: 12.1, OBRa

    The sequence of this isoform differs from the canonical sequence as follows:
         892-958: PETFEHLFIK...EKGSVCISDQ → MLEGSMFVKS...KSPSVRNTQE
         959-1165: Missing.

    Show »
    Length:958
    Mass (Da):109,393
    Checksum:i3F65BC5A187E803A
    GO
    Isoform D (identifier: P48357-4) [UniParc]FASTAAdd to Basket

    Also known as: HuB219.2

    The sequence of this isoform differs from the canonical sequence as follows:
         892-906: PETFEHLFIKHTASV → KMPGTKELLGGGWLT
         907-1165: Missing.

    Show »
    Length:906
    Mass (Da):103,461
    Checksum:i07F4D89DDFDB83CA
    GO
    Isoform E (identifier: P48357-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         840-1165: Missing.

    Show »
    Length:839
    Mass (Da):96,042
    Checksum:i96CA923928EE36FA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti85 – 851T → A in AAC50509. (PubMed:8616721)Curated
    Sequence conflicti85 – 851T → A in AAC50510. (PubMed:8616721)Curated
    Sequence conflicti85 – 851T → A in AAC50511. (PubMed:8616721)Curated
    Sequence conflicti976 – 9761D → A in AAA93015. (PubMed:8548812)Curated
    Sequence conflicti976 – 9761D → A in AAB09673. (PubMed:9158141)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti109 – 1091K → R.7 Publications
    Corresponds to variant rs1137100 [ dbSNP | Ensembl ].
    VAR_002703
    Natural varianti124 – 1241D → G.
    Corresponds to variant rs35573508 [ dbSNP | Ensembl ].
    VAR_049167
    Natural varianti204 – 2041K → R.1 Publication
    VAR_002704
    Natural varianti223 – 2231Q → R.8 Publications
    Corresponds to variant rs1137101 [ dbSNP | Ensembl ].
    VAR_002705
    Natural varianti503 – 5031I → V.
    Corresponds to variant rs13306526 [ dbSNP | Ensembl ].
    VAR_028201
    Natural varianti656 – 6561K → N.4 Publications
    Corresponds to variant rs8179183 [ dbSNP | Ensembl ].
    VAR_002706
    Natural varianti675 – 6751S → T.1 Publication
    VAR_002707
    Natural varianti699 – 6991T → M.
    Corresponds to variant rs34499590 [ dbSNP | Ensembl ].
    VAR_049168

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei840 – 1165326Missing in isoform E. 1 PublicationVSP_001688Add
    BLAST
    Alternative sequencei892 – 95867PETFE…CISDQ → MLEGSMFVKSHHHSLISSTQ GHKHCGRPQGPLHRKTRDLC SLVYLLTLPPLLSYDPAKSP SVRNTQE in isoform C. 2 PublicationsVSP_001691Add
    BLAST
    Alternative sequencei892 – 90615PETFE…HTASV → KMPGTKELLGGGWLT in isoform D. 1 PublicationVSP_001693Add
    BLAST
    Alternative sequencei892 – 8965PETFE → RTDIL in isoform A. 3 PublicationsVSP_001689
    Alternative sequencei897 – 1165269Missing in isoform A. 3 PublicationsVSP_001690Add
    BLAST
    Alternative sequencei907 – 1165259Missing in isoform D. 1 PublicationVSP_001694Add
    BLAST
    Alternative sequencei959 – 1165207Missing in isoform C. 2 PublicationsVSP_001692Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U43168 mRNA. Translation: AAA93015.1.
    U66495 mRNA. Translation: AAB07495.1.
    U66496 mRNA. Translation: AAB07496.1.
    U66497 mRNA. Translation: AAB07497.1.
    U52912 mRNA. Translation: AAC50509.1.
    U52913 mRNA. Translation: AAC50510.1.
    U52914 mRNA. Translation: AAC50511.1.
    U59263
    , U59248, U59249, U59250, U59252, U59253, U59254, U59255, U59256, U59257, U59258, U59259, U59260, U59261, U59262 Genomic DNA. Translation: AAB09673.1.
    U50748 mRNA. Translation: AAC23650.1.
    CCDSiCCDS30740.1. [P48357-2]
    CCDS30741.1. [P48357-3]
    CCDS55604.1. [P48357-4]
    CCDS631.1. [P48357-1]
    RefSeqiNP_001003679.1. NM_001003679.3. [P48357-2]
    NP_001003680.1. NM_001003680.3. [P48357-3]
    NP_001185616.1. NM_001198687.1. [P48357-3]
    NP_001185617.1. NM_001198688.1. [P48357-4]
    NP_001185618.1. NM_001198689.1. [P48357-2]
    NP_002294.2. NM_002303.5. [P48357-1]
    UniGeneiHs.23581.
    Hs.723178.

    Genome annotation databases

    EnsembliENST00000344610; ENSP00000340884; ENSG00000116678. [P48357-4]
    ENST00000349533; ENSP00000330393; ENSG00000116678. [P48357-1]
    ENST00000371058; ENSP00000360097; ENSG00000116678. [P48357-4]
    ENST00000371059; ENSP00000360098; ENSG00000116678. [P48357-3]
    ENST00000371060; ENSP00000360099; ENSG00000116678. [P48357-2]
    GeneIDi3953.
    KEGGihsa:3953.
    UCSCiuc001dcg.3. human. [P48357-3]
    uc001dch.3. human. [P48357-2]
    uc001dci.3. human. [P48357-1]
    uc021ool.1. human. [P48357-4]

    Polymorphism databases

    DMDMi116242617.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U43168 mRNA. Translation: AAA93015.1 .
    U66495 mRNA. Translation: AAB07495.1 .
    U66496 mRNA. Translation: AAB07496.1 .
    U66497 mRNA. Translation: AAB07497.1 .
    U52912 mRNA. Translation: AAC50509.1 .
    U52913 mRNA. Translation: AAC50510.1 .
    U52914 mRNA. Translation: AAC50511.1 .
    U59263
    , U59248 , U59249 , U59250 , U59252 , U59253 , U59254 , U59255 , U59256 , U59257 , U59258 , U59259 , U59260 , U59261 , U59262 Genomic DNA. Translation: AAB09673.1 .
    U50748 mRNA. Translation: AAC23650.1 .
    CCDSi CCDS30740.1. [P48357-2 ]
    CCDS30741.1. [P48357-3 ]
    CCDS55604.1. [P48357-4 ]
    CCDS631.1. [P48357-1 ]
    RefSeqi NP_001003679.1. NM_001003679.3. [P48357-2 ]
    NP_001003680.1. NM_001003680.3. [P48357-3 ]
    NP_001185616.1. NM_001198687.1. [P48357-3 ]
    NP_001185617.1. NM_001198688.1. [P48357-4 ]
    NP_001185618.1. NM_001198689.1. [P48357-2 ]
    NP_002294.2. NM_002303.5. [P48357-1 ]
    UniGenei Hs.23581.
    Hs.723178.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3V6O X-ray 1.95 A/B 428-633 [» ]
    ProteinModelPortali P48357.
    SMRi P48357. Positions 193-325, 337-830.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110144. 11 interactions.
    DIPi DIP-6117N.
    IntActi P48357. 9 interactions.
    MINTi MINT-1387953.
    STRINGi 9606.ENSP00000330393.

    Chemistry

    ChEMBLi CHEMBL5913.
    GuidetoPHARMACOLOGYi 1712.

    PTM databases

    PhosphoSitei P48357.

    Polymorphism databases

    DMDMi 116242617.

    Proteomic databases

    MaxQBi P48357.
    PaxDbi P48357.
    PRIDEi P48357.

    Protocols and materials databases

    DNASUi 3953.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000344610 ; ENSP00000340884 ; ENSG00000116678 . [P48357-4 ]
    ENST00000349533 ; ENSP00000330393 ; ENSG00000116678 . [P48357-1 ]
    ENST00000371058 ; ENSP00000360097 ; ENSG00000116678 . [P48357-4 ]
    ENST00000371059 ; ENSP00000360098 ; ENSG00000116678 . [P48357-3 ]
    ENST00000371060 ; ENSP00000360099 ; ENSG00000116678 . [P48357-2 ]
    GeneIDi 3953.
    KEGGi hsa:3953.
    UCSCi uc001dcg.3. human. [P48357-3 ]
    uc001dch.3. human. [P48357-2 ]
    uc001dci.3. human. [P48357-1 ]
    uc021ool.1. human. [P48357-4 ]

    Organism-specific databases

    CTDi 3953.
    GeneCardsi GC01P065886.
    HGNCi HGNC:6554. LEPR.
    HPAi HPA030899.
    MIMi 601007. gene.
    614963. phenotype.
    neXtProti NX_P48357.
    Orphaneti 179494. Obesity due to leptin receptor gene deficiency.
    PharmGKBi PA229.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG29456.
    HOVERGENi HBG000140.
    InParanoidi P48357.
    KOi K05062.
    OMAi SWAQGLN.
    OrthoDBi EOG7034GB.
    PhylomeDBi P48357.
    TreeFami TF106501.

    Enzyme and pathway databases

    Reactomei REACT_169118. Signaling by Leptin.
    SignaLinki P48357.

    Miscellaneous databases

    GeneWikii Leptin_receptor.
    NextBioi 15505.
    PROi P48357.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P48357.
    Bgeei P48357.
    CleanExi HS_LEPR.
    Genevestigatori P48357.

    Family and domain databases

    Gene3Di 2.60.40.10. 4 hits.
    InterProi IPR003961. Fibronectin_type3.
    IPR003529. Hematopoietin_rcpt_Gp130_CS.
    IPR003531. Hempt_rcpt_S_F1_CS.
    IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR010457. IgC2-like_lig-bd.
    IPR015752. Lep_receptor.
    [Graphical view ]
    PANTHERi PTHR23036:SF11. PTHR23036:SF11. 1 hit.
    Pfami PF06328. Lep_receptor_Ig. 1 hit.
    [Graphical view ]
    SMARTi SM00060. FN3. 4 hits.
    [Graphical view ]
    SUPFAMi SSF49265. SSF49265. 4 hits.
    PROSITEi PS50853. FN3. 3 hits.
    PS01353. HEMATOPO_REC_L_F2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS B AND E).
      Tissue: Brain.
    2. "A role for leptin and its cognate receptor in hematopoiesis."
      Bennett B.D., Solar G.P., Yuan J.Q., Mathias J., Thomas G.R., Matthews W.
      Curr. Biol. 6:1170-1180(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND C).
      Tissue: Fetal liver.
    3. "Novel B219/OB receptor isoforms: possible role of leptin in hematopoiesis and reproduction."
      Cioffi J.A., Shafer A.W., Zupancic T.J., Smith-Gbur J., Mikhail A., Platika D., Snodgrass H.R.
      Nat. Med. 2:585-589(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; C AND D), VARIANTS ARG-109 AND ARG-223.
      Tissue: Fetal liver.
    4. "Structure and sequence variation at the human leptin receptor gene in lean and obese Pima Indians."
      Thompson D.B., Ravussin E., Bennett P.H., Bogardus C.
      Hum. Mol. Genet. 6:675-679(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM B), VARIANTS ARG-109 AND ARG-223.
    5. "Cloning and characterization of a human leptin receptor using a biologically active leptin immunoadhesin."
      Luoh S.-M., Di Marco F., Levin N., Armanini M., Xie M.H., Nelson C., Bennett G.L., Williams M., Spencer S.A., Gurney A., de Sauvage F.J.
      J. Mol. Endocrinol. 18:77-85(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A).
    6. Cited for: INVOLVEMENT IN LEPRD.
    7. "The long terminal repeat of an endogenous retrovirus induces alternative splicing and encodes an additional carboxy-terminal sequence in the human leptin receptor."
      Kapitonov V.V., Jurka J.
      J. Mol. Evol. 48:248-251(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING DUE TO AN ENDOGENOUS RETROVIRUS.
    8. "Enhancing leptin response by preventing SH2-containing phosphatase 2 interaction with Ob receptor."
      Carpenter L.R., Farruggella T.J., Symes A., Karow M.L., Yancopoulos G.D., Stahl N.
      Proc. Natl. Acad. Sci. U.S.A. 95:6061-6066(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH PTPN11, MUTAGENESIS OF TYR-986; 1078-TYR-TYR-1079 AND TYR-1141.
    9. "Human leptin receptor. Determination of disulfide structure and N-glycosylation sites of the extracellular domain."
      Haniu M., Arakawa T., Bures E.J., Young Y., Hui J.O., Rohde M.F., Welcher A.A., Horan T.
      J. Biol. Chem. 273:28691-28699(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION AT ASN-23; ASN-41; ASN-56; ASN-73; ASN-81; ASN-98; ASN-187; ASN-206; ASN-276; ASN-347; ASN-397; ASN-516; ASN-624; ASN-659; ASN-688; ASN-697; ASN-728 AND ASN-750, DISULFIDE BONDS, PARTIAL PROTEIN SEQUENCE.
    10. "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D.
      J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-276 AND ASN-516.
      Tissue: Plasma.
    11. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-276 AND ASN-397.
      Tissue: Liver.
    12. "Structure of the human obesity receptor leptin-binding domain reveals the mechanism of leptin antagonism by a monoclonal antibody."
      Carpenter B., Hemsworth G.R., Wu Z., Maamra M., Strasburger C.J., Ross R.J., Artymiuk P.J.
      Structure 20:487-497(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 428-633 IN COMPLEX WITH ANTIBODY, LEPTIN-BINDING REGION, DISULFIDE BONDS.
    13. "The hypothalamic leptin receptor in humans: identification of incidental sequence polymorphisms and absence of the db/db mouse and fa/fa rat mutations."
      Considine R.V., Considine E.L., Williams C.J., Hyde T.M., Caro J.F.
      Diabetes 45:992-994(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARG-223.
    14. "Amino acid variants in the human leptin receptor: lack of association to juvenile onset obesity."
      Echwald S.M., Soerensen T.D., Soerensen T.I., Tybjaerg-Hansen A., Andersen T., Chung W.K., Leibel R.L., Pedersen O.
      Biochem. Biophys. Res. Commun. 233:248-252(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARG-109; ARG-204; ARG-223 AND ASN-656.
    15. "Exonic and intronic sequence variation in the human leptin receptor gene (LEPR)."
      Chung W.K., Power-Kehoe L., Chua M., Chu F., Aronne L., Huma Z., Sothern M., Udall J.N., Kahle B., Leibel R.L.
      Diabetes 46:1509-1511(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARG-109; ARG-223 AND ASN-656.
    16. "Leptin receptor gene variation and obesity: lack of association in a white British male population."
      Gotoda T., Manning B.S., Goldstone A.P., Imrie H., Evans A.L., Strosberg A.D., McKeigue P.M., Scott J., Aitman T.J.
      Hum. Mol. Genet. 6:869-876(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARG-109; ARG-223 AND ASN-656.
    17. "Transmission disequilibrium and sequence variants at the leptin receptor gene in extremely obese German children and adolescents."
      Roth H., Korn T., Rosenkranz K., Hinney A., Ziegler A., Kunz J., Siegfried W., Mayer H., Hebebrand J., Grzeschik K.-H.
      Hum. Genet. 103:540-546(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARG-109; ARG-223; ASN-656 AND THR-675.
    18. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-109 AND ARG-223.

    Entry informationi

    Entry nameiLEPR_HUMAN
    AccessioniPrimary (citable) accession number: P48357
    Secondary accession number(s): Q13592
    , Q13593, Q13594, Q92919, Q92920, Q92921
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 1, 1996
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 162 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human cell differentiation molecules
      CD nomenclature of surface proteins of human leucocytes and list of entries
    2. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3