Human Gene LEPR (ENST00000371060.7) from GENCODE V44
Description: Homo sapiens leptin receptor (LEPR), transcript variant 3, mRNA. (from RefSeq NM_001003679) RefSeq Summary (NM_001003679): 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]. Gencode Transcript: ENST00000371060.7 Gencode Gene: ENSG00000116678.20 Transcript (Including UTRs) Position: hg38 chr1:65,420,652-65,635,428 Size: 214,777 Total Exon Count: 20 Strand: + Coding Region Position: hg38 chr1:65,565,566-65,633,169 Size: 67,604 Coding Exon Count: 18
ID:LEPR_HUMAN DESCRIPTION: RecName: Full=Leptin receptor; Short=LEP-R; AltName: Full=HuB219; AltName: Full=OB receptor; Short=OB-R; AltName: CD_antigen=CD295; Flags: Precursor; FUNCTION: 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). SUBUNIT: 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). INTERACTION: P62993:GRB2; NbExp=3; IntAct=EBI-518596, EBI-401755; SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. SUBCELLULAR LOCATION: Isoform E: Secreted (Probable). TISSUE SPECIFICITY: 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. DOMAIN: The cytoplasmic domain may be essential for intracellular signal transduction by activation of JAK tyrosine kinase and STATs. DOMAIN: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding. DOMAIN: The box 1 motif is required for JAK interaction and/or activation. PTM: 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. SIMILARITY: Belongs to the type I cytokine receptor family. Type 2 subfamily. SIMILARITY: Contains 4 fibronectin type-III domains. SIMILARITY: Contains 1 Ig-like (immunoglobulin-like) domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P48357
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
