Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    LEPR leptin receptor [ Homo sapiens (human) ]

    Gene ID: 3953, updated on 11-Jun-2017
    Official Symbol
    LEPRprovided by HGNC
    Official Full Name
    leptin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6554
    See related
    Ensembl:ENSG00000116678 MIM:601007; Vega:OTTHUMG00000009115
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OBR; OB-R; CD295; LEP-R; LEPRD
    Summary
    The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
    Orthologs
    Location:
    1p31.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (65420652..65637493)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65886335..66103176)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724416 Neighboring gene DnaJ heat shock protein family (Hsp40) member C6 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 13 Neighboring gene RNA, U2 small nuclear 15, pseudogene Neighboring gene leptin receptor overlapping transcript Neighboring gene polypeptide N-acetylgalactosaminyltransferase 11 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 854, pseudogene Neighboring gene phosphodiesterase 4B Neighboring gene uncharacterized LOC101927139

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Leptin receptor deficiency
    MedGen: C3554225 OMIM: 614963 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies a LEPR gene as a novel predisposing factor for childhood fasting plasma glucose.
    NHGRI GWA Catalog
    Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?
    NHGRI GWA Catalog
    Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.
    NHGRI GWA Catalog
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    NHGRI GWA Catalog
    Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
    NHGRI GWA Catalog
    Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.
    NHGRI GWA Catalog
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    NHGRI GWA Catalog
    Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    NHGRI GWA Catalog
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    NHGRI GWA Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    NHGRI GWA Catalog
    • AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystem (from WikiPathways)
      AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
    • AMPK signaling pathway, organism-specific biosystem (from KEGG)
      AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
    • AMPK signaling pathway, conserved biosystem (from KEGG)
      AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
    • Adipocytokine signaling pathway, organism-specific biosystem (from KEGG)
      Adipocytokine signaling pathway, organism-specific biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
    • Adipocytokine signaling pathway, conserved biosystem (from KEGG)
      Adipocytokine signaling pathway, conserved biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Jak-STAT signaling pathway, organism-specific biosystem (from KEGG)
      Jak-STAT signaling pathway, organism-specific biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Jak-STAT signaling pathway, conserved biosystem (from KEGG)
      Jak-STAT signaling pathway, conserved biosystemThe Janus kinase/signal transducers and activators of transcription (JAK/STAT) pathway is one of a handful of pleiotropic cascades used to transduce a multitude of signals for development and homeost...
    • Leptin signaling pathway, organism-specific biosystem (from WikiPathways)
      Leptin signaling pathway, organism-specific biosystemLeptin is a peptide hormone mainly synthesised and secreted from adipocytes. It is also expressed in other tissues including placenta, stomach and skeletal muscle. Leptin mediates its effects by bind...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystem (from KEGG)
      Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
    • Non-alcoholic fatty liver disease (NAFLD), conserved biosystem (from KEGG)
      Non-alcoholic fatty liver disease (NAFLD), conserved biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Leptin, organism-specific biosystem (from REACTOME)
      Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
    • Signaling events mediated by PTP1B, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by PTP1B, organism-specific biosystem
      Signaling events mediated by PTP1B
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686B1731

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    leptin receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    bone growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    energy reserve metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    leptin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of bone remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of feeding behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to leptin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sexual reproduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    leptin receptor
    Names
    OB receptor
    huB219

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015831.2 RefSeqGene

      Range
      5088..221929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_283

    mRNA and Protein(s)

    1. NM_001003679.3NP_001003679.1  leptin receptor isoform 3 precursor

      See identical proteins and their annotated locations for NP_001003679.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 3' terminal exon compared to variant 1, resulting in a shorter isoform (3) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AI436180, U50748, U66495
      Consensus CDS
      CCDS30740.1
      UniProtKB/Swiss-Prot
      P48357
      Related
      ENSP00000360099.3, OTTHUMP00000010693, ENST00000371060.7, OTTHUMT00000025276
      Conserved Domains (3) summary
      cd00063
      Location:237330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333420
      Lep_receptor_Ig; Ig-like C2-type domain
    2. NM_001003680.3NP_001003680.1  leptin receptor isoform 2 precursor

      See identical proteins and their annotated locations for NP_001003680.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon compared to variant 1, resulting in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      U66496
      Consensus CDS
      CCDS30741.1
      UniProtKB/Swiss-Prot
      P48357
      Related
      ENSP00000360098.3, OTTHUMP00000010694, ENST00000371059.7, OTTHUMT00000025277
      Conserved Domains (3) summary
      cd00063
      Location:237330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333420
      Lep_receptor_Ig; Ig-like C2-type domain
    3. NM_001198687.1NP_001185616.1  leptin receptor isoform 2 precursor

      See identical proteins and their annotated locations for NP_001185616.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains alternate 5' UTR and 3' terminal exon compared to variant 1, resulting in a shorter isoform (2) with a distinct C-terminus compared to isoform 1. Variants 2 and 4 encode the same isoform.
      Source sequence(s)
      BC031086, U52912
      Consensus CDS
      CCDS30741.1
      UniProtKB/Swiss-Prot
      P48357
      UniProtKB/TrEMBL
      Q4G138
      Conserved Domains (3) summary
      cd00063
      Location:237330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333420
      Lep_receptor_Ig; Ig-like C2-type domain
    4. NM_001198688.1NP_001185617.1  leptin receptor isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains alternate 5' UTR and 3' terminal exon compared to variant 1, resulting in a shorter isoform (4) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC097063, BC031086, U50748, U52913
      Consensus CDS
      CCDS55604.1
      UniProtKB/Swiss-Prot
      P48357
      UniProtKB/TrEMBL
      Q4G138
      Related
      ENSP00000340884.8, ENST00000344610.12
      Conserved Domains (3) summary
      cd00063
      Location:237330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333420
      Lep_receptor_Ig; Ig-like C2-type domain
    5. NM_001198689.1NP_001185618.1  leptin receptor isoform 3 precursor

      See identical proteins and their annotated locations for NP_001185618.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains alternate 5' UTR and 3' terminal exon compared to variant 1, resulting in a shorter isoform (3) with a distinct C-terminus compared to isoform 1. Variants 3 and 6 encode the same isoform.
      Source sequence(s)
      AI436180, BC031086, U50748, U52914
      Consensus CDS
      CCDS30740.1
      UniProtKB/Swiss-Prot
      P48357
      UniProtKB/TrEMBL
      Q4G138
      Related
      ENSP00000483390.1, ENST00000616738.4
      Conserved Domains (3) summary
      cd00063
      Location:237330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333420
      Lep_receptor_Ig; Ig-like C2-type domain
    6. NM_002303.5NP_002294.2  leptin receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_002294.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      U43168, U66497
      Consensus CDS
      CCDS631.1
      UniProtKB/Swiss-Prot
      P48357
      Related
      ENSP00000330393.6, OTTHUMP00000010692, ENST00000349533.10, OTTHUMT00000025275
      Conserved Domains (3) summary
      cd00063
      Location:237330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333420
      Lep_receptor_Ig; Ig-like C2-type domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      65420652..65637493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      66002606..66219234
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center