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Protein

Leptin receptor

Gene

LEPR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Receptor for hormone LEP/leptin (Probable) (PubMed:22405007). On ligand binding, mediates LEP central and peripheral effects through the activation of different signaling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones (By similarity) (PubMed:9537324). In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic and affects innate and adaptive immunity (PubMed:25060689, PubMed:12504075, PubMed:8805376). Control of energy homeostasis and melanocortin production (stimulation of POMC and full repression of AgRP transcription) is mediated by STAT3 signaling, whereas distinct signals regulate NPY and the control of fertility, growth and glucose homeostasis. Involved in the regulation of counter-regulatory response to hypoglycemia by inhibiting neurons of the parabrachial nucleus. Has a specific effect on T lymphocyte responses, differentially regulating the proliferation of naive and memory T -ells. Leptin increases Th1 and suppresses Th2 cytokine production (By similarity).By similarity1 Publication5 Publications
Isoform A: May transport LEP across the blood-brain barrier. Binds LEP and mediates LEP endocytosis. Does not induce phosphorylation of and activate STAT3.By similarity
Isoform E: Antagonizes Isoform A and isoform B-mediated LEP binding and endocytosis.By similarity

GO - Molecular functioni

  • leptin receptor activity Source: UniProtKB
  • transmembrane signaling receptor activity Source: ProtInc

GO - Biological processi

  • angiogenesis Source: UniProtKB
  • bone growth Source: UniProtKB
  • cell surface receptor signaling pathway Source: ProtInc
  • cholesterol metabolic process Source: Ensembl
  • energy homeostasis Source: UniProtKB
  • energy reserve metabolic process Source: ProtInc
  • glucose homeostasis Source: UniProtKB
  • leptin-mediated signaling pathway Source: UniProtKB
  • multicellular organism development Source: ProtInc
  • negative regulation of autophagy Source: UniProtKB
  • negative regulation of gluconeogenesis Source: Ensembl
  • negative regulation of hydrolase activity Source: Ensembl
  • phagocytosis Source: Ensembl
  • regulation of bone remodeling Source: UniProtKB
  • regulation of energy homeostasis Source: UniProtKB
  • regulation of feeding behavior Source: UniProtKB
  • response to leptin Source: UniProtKB
  • sexual reproduction Source: UniProtKB
  • T cell differentiation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

ReactomeiR-HSA-2586552. Signaling by Leptin.
SignaLinkiP48357.
SIGNORiP48357.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:6554. LEPR.

Subcellular locationi

Isoform E :
  • Secreted By similarity

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 839ExtracellularSequence analysisAdd BLAST818
Transmembranei840 – 862HelicalSequence analysisAdd BLAST23
Topological domaini863 – 1165CytoplasmicSequence analysisAdd BLAST303

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Leptin receptor deficiency (LEPRD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614963
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075723422Y → H in LEPRD; unknown pathological significance. 1 Publication1
Natural variantiVAR_075724604C → G in LEPRD; unknown pathological significance. 1 Publication1
Natural variantiVAR_075725786L → P in LEPRD; unknown pathological significance. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi986Y → F: Greatly reduced PTPN11 binding; no PTPN11 phosphorylation; no effect on STAT3 phosphorylation. 1 Publication1
Mutagenesisi1078 – 1079YY → FF: No effect on PTPN11 nor STAT3 phosphorylation. 1 Publication2
Mutagenesisi1141Y → F: No effect on PTPN11 phosphorylation; no STAT3 phosphorylation. 1 Publication1

Keywords - Diseasei

Obesity

Organism-specific databases

DisGeNETi3953.
MalaCardsiLEPR.
MIMi614963. phenotype.
OpenTargetsiENSG00000116678.
Orphaneti179494. Obesity due to leptin receptor gene deficiency.
PharmGKBiPA229.

Chemistry databases

ChEMBLiCHEMBL5913.
DrugBankiDB09046. Metreleptin.

Polymorphism and mutation databases

BioMutaiLEPR.
DMDMi116242617.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Add BLAST21
ChainiPRO_000001090422 – 1165Leptin receptorAdd BLAST1144

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi23N-linked (GlcNAc...)1 Publication1
Disulfide bondi37 ↔ 901 Publication
Glycosylationi41N-linked (GlcNAc...)1 Publication1
Glycosylationi56N-linked (GlcNAc...)1 Publication1
Glycosylationi73N-linked (GlcNAc...)1 Publication1
Glycosylationi81N-linked (GlcNAc...)1 Publication1
Disulfide bondi89 ↔ 991 Publication
Glycosylationi98N-linked (GlcNAc...)1 Publication1
Disulfide bondi131 ↔ 1421 Publication
Disulfide bondi186 ↔ 1961 Publication
Glycosylationi187N-linked (GlcNAc...)1 Publication1
Disulfide bondi188 ↔ 1931 Publication
Glycosylationi206N-linked (GlcNAc...)1 Publication1
Glycosylationi276N-linked (GlcNAc...)3 Publications1
Glycosylationi347N-linked (GlcNAc...)1 Publication1
Disulfide bondi352 ↔ 4121 Publication
Glycosylationi397N-linked (GlcNAc...)2 Publications1
Disulfide bondi413 ↔ 4181 Publication
Disulfide bondi436 ↔ 4471 Publication
Disulfide bondi473 ↔ 5281 Publication
Disulfide bondi488 ↔ 4981 Publication
Glycosylationi516N-linked (GlcNAc...)2 Publications1
Glycosylationi624N-linked (GlcNAc...)1 Publication1
Glycosylationi659N-linked (GlcNAc...)1 Publication1
Glycosylationi688N-linked (GlcNAc...)1 Publication1
Glycosylationi697N-linked (GlcNAc...)1 Publication1
Glycosylationi728N-linked (GlcNAc...)1 Publication1
Glycosylationi750N-linked (GlcNAc...)1 Publication1
Modified residuei882PhosphoserineCombined sources1
Modified residuei986Phosphotyrosine; by JAK2By similarity1
Modified residuei1079PhosphotyrosineBy similarity1
Modified residuei1141Phosphotyrosine; by JAK2By similarity1

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,for interaction with SOCS3 and SOCS3 mediated inhibition of leptin signaling. Phosphorylation on Tyr-1141 is required for STAT3 binding/activation. Phosphorylation of Tyr-1079 has a more accessory role.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP48357.
PaxDbiP48357.
PeptideAtlasiP48357.
PRIDEiP48357.

PTM databases

iPTMnetiP48357.
PhosphoSitePlusiP48357.

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, but also in skeletal muscle. Detected in fundic and antral epithelial cells of the gastric mucosa (PubMed:19159218). Isoform B and isoform A are expressed by NK cells (at protein level) (PubMed:12504075).3 Publications

Gene expression databases

BgeeiENSG00000116678.
CleanExiHS_LEPR.
ExpressionAtlasiP48357. baseline and differential.
GenevisibleiP48357. HS.

Organism-specific databases

HPAiHPA030899.

Interactioni

Subunit structurei

Present as a mixture of monomers and dimers (Probable). The phosphorylated receptor binds a number of SH2 domain-containing proteins such as JAK2, STAT3, PTPN11, and SOCS3 (By similarity) (PubMed:9600917). Interaction with SOCS3 inhibits JAK/STAT signaling and MAPK cascade (By similarity).By similarity1 Publication1 Publication

Binary interactionsi

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

Protein-protein interaction databases

BioGridi110144. 17 interactors.
DIPiDIP-6117N.
IntActiP48357. 9 interactors.
MINTiMINT-1387953.
STRINGi9606.ENSP00000330393.

Structurei

Secondary structure

11165
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi435 – 438Combined sources4
Beta strandi445 – 449Combined sources5
Beta strandi461 – 468Combined sources8
Beta strandi484 – 486Combined sources3
Beta strandi488 – 490Combined sources3
Beta strandi496 – 500Combined sources5
Beta strandi509 – 517Combined sources9
Beta strandi527 – 529Combined sources3
Helixi531 – 534Combined sources4
Beta strandi544 – 548Combined sources5
Turni549 – 552Combined sources4
Beta strandi553 – 557Combined sources5
Beta strandi568 – 580Combined sources13
Beta strandi584 – 588Combined sources5
Beta strandi595 – 598Combined sources4
Beta strandi607 – 615Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3V6OX-ray1.95A/B428-633[»]
ProteinModelPortaliP48357.
SMRiP48357.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini239 – 333Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST95
Domaini331 – 429Ig-likeAdd BLAST99
Domaini539 – 634Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST96
Domaini639 – 732Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST94
Domaini740 – 833Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST94

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni467 – 484Leptin-binding1 PublicationAdd BLAST18
Regioni893 – 898Required for JAK2 activationBy similarity6
Regioni898 – 906Required for STAT3 phosphorylationBy similarity9

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi622 – 626WSXWS motif5
Motifi871 – 879Box 1 motif9

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

eggNOGiENOG410IKH4. Eukaryota.
ENOG4110JZP. LUCA.
GeneTreeiENSGT00730000111209.
HOVERGENiHBG000140.
InParanoidiP48357.
KOiK05062.
OMAiNWNIQCW.
OrthoDBiEOG091G00QX.
PhylomeDBiP48357.
TreeFamiTF106501.

Family and domain databases

CDDicd00063. FN3. 3 hits.
Gene3Di2.60.40.10. 5 hits.
InterProiIPR003961. FN3_dom.
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:SF109. PTHR23036:SF109. 3 hits.
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. AlignAdd to basket

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

        10         20         30         40         50
MICQKFCVVL LHWEFIYVIT AFNLSYPITP WRFKLSCMPP NSTYDYFLLP
60 70 80 90 100
AGLSKNTSNS NGHYETAVEP KFNSSGTHFS NLSKTTFHCC FRSEQDRNCS
110 120 130 140 150
LCADNIEGKT FVSTVNSLVF QQIDANWNIQ CWLKGDLKLF ICYVESLFKN
160 170 180 190 200
LFRNYNYKVH LLYVLPEVLE DSPLVPQKGS FQMVHCNCSV HECCECLVPV
210 220 230 240 250
PTAKLNDTLL MCLKITSGGV IFQSPLMSVQ PINMVKPDPP LGLHMEITDD
260 270 280 290 300
GNLKISWSSP PLVPFPLQYQ VKYSENSTTV IREADKIVSA TSLLVDSILP
310 320 330 340 350
GSSYEVQVRG KRLDGPGIWS DWSTPRVFTT QDVIYFPPKI LTSVGSNVSF
360 370 380 390 400
HCIYKKENKI VPSKEIVWWM NLAEKIPQSQ YDVVSDHVSK VTFFNLNETK
410 420 430 440 450
PRGKFTYDAV YCCNEHECHH RYAELYVIDV NINISCETDG YLTKMTCRWS
460 470 480 490 500
TSTIQSLAES TLQLRYHRSS LYCSDIPSIH PISEPKDCYL QSDGFYECIF
510 520 530 540 550
QPIFLLSGYT MWIRINHSLG SLDSPPTCVL PDSVVKPLPP SSVKAEITIN
560 570 580 590 600
IGLLKISWEK PVFPENNLQF QIRYGLSGKE VQWKMYEVYD AKSKSVSLPV
610 620 630 640 650
PDLCAVYAVQ VRCKRLDGLG YWSNWSNPAY TVVMDIKVPM RGPEFWRIIN
660 670 680 690 700
GDTMKKEKNV TLLWKPLMKN DSLCSVQRYV INHHTSCNGT WSEDVGNHTK
710 720 730 740 750
FTFLWTEQAH TVTVLAINSI GASVANFNLT FSWPMSKVNI VQSLSAYPLN
760 770 780 790 800
SSCVIVSWIL SPSDYKLMYF IIEWKNLNED GEIKWLRISS SVKKYYIHDH
810 820 830 840 850
FIPIEKYQFS LYPIFMEGVG KPKIINSFTQ DDIEKHQSDA GLYVIVPVII
860 870 880 890 900
SSSILLLGTL LISHQRMKKL FWEDVPNPKN CSWAQGLNFQ KPETFEHLFI
910 920 930 940 950
KHTASVTCGP LLLEPETISE DISVDTSWKN KDEMMPTTVV SLLSTTDLEK
960 970 980 990 1000
GSVCISDQFN SVNFSEAEGT EVTYEDESQR QPFVKYATLI SNSKPSETGE
1010 1020 1030 1040 1050
EQGLINSSVT KCFSSKNSPL KDSFSNSSWE IEAQAFFILS DQHPNIISPH
1060 1070 1080 1090 1100
LTFSEGLDEL LKLEGNFPEE NNDKKSIYYL GVTSIKKRES GVLLTDKSRV
1110 1120 1130 1140 1150
SCPFPAPCLF TDIRVLQDSC SHFVENNINL GTSSKKTFAS YMPQFQTCST
1160
QTHKIMENKM CDLTV
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)DescriptionActionsGraphical viewLength
Sequence conflicti85T → A in AAC50509 (PubMed:8616721).Curated1
Sequence conflicti85T → A in AAC50510 (PubMed:8616721).Curated1
Sequence conflicti85T → A in AAC50511 (PubMed:8616721).Curated1
Sequence conflicti976D → A in AAA93015 (PubMed:8548812).Curated1
Sequence conflicti976D → A in AAB09673 (PubMed:9158141).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_002703109K → R.7 PublicationsCorresponds to variant rs1137100dbSNPEnsembl.1
Natural variantiVAR_049167124D → G.Corresponds to variant rs35573508dbSNPEnsembl.1
Natural variantiVAR_002704204K → R.1 PublicationCorresponds to variant rs146442768dbSNPEnsembl.1
Natural variantiVAR_002705223Q → R.8 PublicationsCorresponds to variant rs1137101dbSNPEnsembl.1
Natural variantiVAR_075723422Y → H in LEPRD; unknown pathological significance. 1 Publication1
Natural variantiVAR_028201503I → V.Corresponds to variant rs13306526dbSNPEnsembl.1
Natural variantiVAR_075724604C → G in LEPRD; unknown pathological significance. 1 Publication1
Natural variantiVAR_002706656K → N.4 PublicationsCorresponds to variant rs8179183dbSNPEnsembl.1
Natural variantiVAR_002707675S → T.1 PublicationCorresponds to variant rs373154589dbSNPEnsembl.1
Natural variantiVAR_049168699T → M.Corresponds to variant rs34499590dbSNPEnsembl.1
Natural variantiVAR_075725786L → P in LEPRD; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001688840 – 1165Missing in isoform E. 1 PublicationAdd BLAST326
Alternative sequenceiVSP_001691892 – 958PETFE…CISDQ → MLEGSMFVKSHHHSLISSTQ GHKHCGRPQGPLHRKTRDLC SLVYLLTLPPLLSYDPAKSP SVRNTQE in isoform C. 2 PublicationsAdd BLAST67
Alternative sequenceiVSP_001693892 – 906PETFE…HTASV → KMPGTKELLGGGWLT in isoform D. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_001689892 – 896PETFE → RTDIL in isoform A. 3 Publications5
Alternative sequenceiVSP_001690897 – 1165Missing in isoform A. 3 PublicationsAdd BLAST269
Alternative sequenceiVSP_001694907 – 1165Missing in isoform D. 1 PublicationAdd BLAST259
Alternative sequenceiVSP_001692959 – 1165Missing in isoform C. 2 PublicationsAdd BLAST207

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
ENST00000616738; ENSP00000483390; ENSG00000116678. [P48357-2]
GeneIDi3953.
KEGGihsa:3953.
UCSCiuc001dcg.4. human. [P48357-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3V6OX-ray1.95A/B428-633[»]
ProteinModelPortaliP48357.
SMRiP48357.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110144. 17 interactors.
DIPiDIP-6117N.
IntActiP48357. 9 interactors.
MINTiMINT-1387953.
STRINGi9606.ENSP00000330393.

Chemistry databases

ChEMBLiCHEMBL5913.
DrugBankiDB09046. Metreleptin.

PTM databases

iPTMnetiP48357.
PhosphoSitePlusiP48357.

Polymorphism and mutation databases

BioMutaiLEPR.
DMDMi116242617.

Proteomic databases

MaxQBiP48357.
PaxDbiP48357.
PeptideAtlasiP48357.
PRIDEiP48357.

Protocols and materials databases

DNASUi3953.
Structural Biology KnowledgebaseSearch...

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]
ENST00000616738; ENSP00000483390; ENSG00000116678. [P48357-2]
GeneIDi3953.
KEGGihsa:3953.
UCSCiuc001dcg.4. human. [P48357-1]

Organism-specific databases

CTDi3953.
DisGeNETi3953.
GeneCardsiLEPR.
HGNCiHGNC:6554. LEPR.
HPAiHPA030899.
MalaCardsiLEPR.
MIMi601007. gene.
614963. phenotype.
neXtProtiNX_P48357.
OpenTargetsiENSG00000116678.
Orphaneti179494. Obesity due to leptin receptor gene deficiency.
PharmGKBiPA229.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKH4. Eukaryota.
ENOG4110JZP. LUCA.
GeneTreeiENSGT00730000111209.
HOVERGENiHBG000140.
InParanoidiP48357.
KOiK05062.
OMAiNWNIQCW.
OrthoDBiEOG091G00QX.
PhylomeDBiP48357.
TreeFamiTF106501.

Enzyme and pathway databases

ReactomeiR-HSA-2586552. Signaling by Leptin.
SignaLinkiP48357.
SIGNORiP48357.

Miscellaneous databases

GeneWikiiLeptin_receptor.
GenomeRNAii3953.
PROiP48357.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116678.
CleanExiHS_LEPR.
ExpressionAtlasiP48357. baseline and differential.
GenevisibleiP48357. HS.

Family and domain databases

CDDicd00063. FN3. 3 hits.
Gene3Di2.60.40.10. 5 hits.
InterProiIPR003961. FN3_dom.
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:SF109. PTHR23036:SF109. 3 hits.
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]
ProtoNetiSearch...

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: November 30, 2016
This is version 184 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.