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LEPR leptin receptor [ Homo sapiens (human) ]

Gene ID: 3953, updated on 3-May-2015
Official Symbol
LEPRprovided by HGNC
Official Full Name
leptin receptorprovided by HGNC
Primary source
HGNC:HGNC:6554
See related
Ensembl:ENSG00000116678; HPRD:03001; 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
See LEPR in MapViewer
Location:
1p31
Exon count:
24
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 ribosomal protein S29 pseudogene 7 Neighboring gene uncharacterized LOC102724416 Neighboring gene adenylate kinase 4 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 6 Neighboring gene leptin receptor overlapping transcript Neighboring gene polypeptide N-acetylgalactosaminyltransferase 11 pseudogene Neighboring gene phosphodiesterase 4B, cAMP-specific Neighboring gene uncharacterized LOC101927139 Neighboring gene uncharacterized LOC105378776

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Leptin receptor deficiency
MedGen: CN120495 OMIM: 614963 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
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
  • AMPK signaling, organism-specific biosystem (from WikiPathways)
    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
cytokine receptor activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
energy reserve metabolic process TAS
Traceable Author Statement
more info
PubMed 
multicellular organismal development TAS
Traceable Author Statement
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
 
Component Evidence Code Pubs
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
leptin receptor
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, OTTHUMP00000010693, ENST00000371060, OTTHUMT00000025276
    Conserved Domains (2) 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 ...
    pfam06328
    Location:336422
    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, OTTHUMP00000010694, ENST00000371059, OTTHUMT00000025277
    Conserved Domains (2) 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 ...
    pfam06328
    Location:336422
    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 (2) 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 ...
    pfam06328
    Location:336422
    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, ENST00000344610
    Conserved Domains (2) 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 ...
    pfam06328
    Location:336422
    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, ENST00000616738
    Conserved Domains (2) 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 ...
    pfam06328
    Location:336422
    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
    Conserved Domains (2) 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 ...
    pfam06328
    Location:336422
    Lep_receptor_Ig; Ig-like C2-type domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 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)