Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P48357 (LEPR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 157. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Leptin receptor

Short name=LEP-R
Alternative name(s):
HuB219
OB receptor
Short name=OB-R
CD_antigen=CD295
Gene names
Name:LEPR
Synonyms:DB, OBR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1165 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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 structure

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.

Subcellular location

Cell membrane; Single-pass type I membrane protein.

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.

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.

Post-translational modification

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.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the type I cytokine receptor family. Type 2 subfamily.

Contains 4 fibronectin type-III domains.

Contains 1 Ig-like (immunoglobulin-like) domain.

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
Secreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseObesity
   DomainImmunoglobulin domain
Repeat
Signal
Transmembrane
Transmembrane helix
   Molecular functionReceptor
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processcell surface receptor signaling pathway

Traceable author statement Ref.6. Source: ProtInc

cholesterol metabolic process

Inferred from electronic annotation. Source: Ensembl

energy reserve metabolic process

Traceable author statement Ref.6. Source: ProtInc

multicellular organismal development

Traceable author statement Ref.6. Source: ProtInc

negative regulation of hydrolase activity

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentextracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Traceable author statement. Source: Reactome

receptor complex

Inferred from direct assay PubMed 23382219. Source: MGI

   Molecular_functioncytokine receptor activity

Inferred from electronic annotation. Source: InterPro

identical protein binding

Inferred from physical interaction PubMed 20347812PubMed 20347812. Source: IntAct

transmembrane signaling receptor activity

Traceable author statement Ref.6. Source: ProtInc

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform B (identifier: P48357-1)

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.
Isoform A (identifier: P48357-2)

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.
Isoform C (identifier: P48357-3)

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.
Isoform D (identifier: P48357-4)

Also known as: HuB219.2;

The sequence of this isoform differs from the canonical sequence as follows:
     892-906: PETFEHLFIKHTASV → KMPGTKELLGGGWLT
     907-1165: Missing.
Isoform E (identifier: P48357-5)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121
Chain22 – 11651144Leptin receptor
PRO_0000010904

Regions

Topological domain22 – 839818Extracellular Potential
Transmembrane840 – 86223Helical; Potential
Topological domain863 – 1165303Cytoplasmic Potential
Domain239 – 33395Fibronectin type-III 1
Domain331 – 42999Ig-like
Domain539 – 63496Fibronectin type-III 2
Domain639 – 73294Fibronectin type-III 3
Domain740 – 83394Fibronectin type-III 4
Region467 – 48418Leptin-binding Probable
Region893 – 8986Required for JAK2 activation By similarity
Motif622 – 6265WSXWS motif
Motif871 – 8799Box 1 motif

Amino acid modifications

Modified residue9861Phosphotyrosine; by JAK2 By similarity
Modified residue10791Phosphotyrosine By similarity
Modified residue11411Phosphotyrosine; by JAK2 By similarity
Glycosylation231N-linked (GlcNAc...) Ref.9
Glycosylation411N-linked (GlcNAc...) Ref.9
Glycosylation561N-linked (GlcNAc...) Ref.9
Glycosylation731N-linked (GlcNAc...) Ref.9
Glycosylation811N-linked (GlcNAc...) Ref.9
Glycosylation981N-linked (GlcNAc...) Ref.9
Glycosylation1871N-linked (GlcNAc...) Ref.9
Glycosylation2061N-linked (GlcNAc...) Ref.9
Glycosylation2761N-linked (GlcNAc...) Ref.9 Ref.10 Ref.11
Glycosylation3471N-linked (GlcNAc...) Ref.9
Glycosylation3971N-linked (GlcNAc...) Ref.9 Ref.11
Glycosylation5161N-linked (GlcNAc...) Ref.9 Ref.10
Glycosylation6241N-linked (GlcNAc...) Ref.9
Glycosylation6591N-linked (GlcNAc...) Ref.9
Glycosylation6881N-linked (GlcNAc...) Ref.9
Glycosylation6971N-linked (GlcNAc...) Ref.9
Glycosylation7281N-linked (GlcNAc...) Ref.9
Glycosylation7501N-linked (GlcNAc...) Ref.9
Disulfide bond37 ↔ 90 Ref.9 Ref.12
Disulfide bond89 ↔ 99 Ref.9 Ref.12
Disulfide bond131 ↔ 142 Ref.9 Ref.12
Disulfide bond186 ↔ 196 Ref.9 Ref.12
Disulfide bond188 ↔ 193 Ref.9 Ref.12
Disulfide bond352 ↔ 412 Ref.9 Ref.12
Disulfide bond413 ↔ 418 Ref.9 Ref.12
Disulfide bond436 ↔ 447 Ref.9 Ref.12
Disulfide bond473 ↔ 528 Ref.9 Ref.12
Disulfide bond488 ↔ 498 Ref.9 Ref.12

Natural variations

Alternative sequence840 – 1165326Missing in isoform E.
VSP_001688
Alternative sequence892 – 95867PETFE…CISDQ → MLEGSMFVKSHHHSLISSTQ GHKHCGRPQGPLHRKTRDLC SLVYLLTLPPLLSYDPAKSP SVRNTQE in isoform C.
VSP_001691
Alternative sequence892 – 90615PETFE…HTASV → KMPGTKELLGGGWLT in isoform D.
VSP_001693
Alternative sequence892 – 8965PETFE → RTDIL in isoform A.
VSP_001689
Alternative sequence897 – 1165269Missing in isoform A.
VSP_001690
Alternative sequence907 – 1165259Missing in isoform D.
VSP_001694
Alternative sequence959 – 1165207Missing in isoform C.
VSP_001692
Natural variant1091K → R. Ref.3 Ref.4 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18
Corresponds to variant rs1137100 [ dbSNP | Ensembl ].
VAR_002703
Natural variant1241D → G.
Corresponds to variant rs35573508 [ dbSNP | Ensembl ].
VAR_049167
Natural variant2041K → R. Ref.14
VAR_002704
Natural variant2231Q → R. Ref.3 Ref.4 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18
Corresponds to variant rs1137101 [ dbSNP | Ensembl ].
VAR_002705
Natural variant5031I → V.
Corresponds to variant rs13306526 [ dbSNP | Ensembl ].
VAR_028201
Natural variant6561K → N. Ref.14 Ref.15 Ref.16 Ref.17
Corresponds to variant rs8179183 [ dbSNP | Ensembl ].
VAR_002706
Natural variant6751S → T. Ref.17
VAR_002707
Natural variant6991T → M.
Corresponds to variant rs34499590 [ dbSNP | Ensembl ].
VAR_049168

Experimental info

Mutagenesis9861Y → F: Greatly reduced PTPN11 binding; no PTPN11 phosphorylation; no effect on STAT3 phosphorylation. Ref.8
Mutagenesis1078 – 10792YY → FF: No effect on PTPN11 nor STAT3 phosphorylation.
Mutagenesis11411Y → F: No effect on PTPN11 phosphorylation; no STAT3 phosphorylation. Ref.8
Sequence conflict851T → A in AAC50509. Ref.3
Sequence conflict851T → A in AAC50510. Ref.3
Sequence conflict851T → A in AAC50511. Ref.3
Sequence conflict9761D → A in AAA93015. Ref.1
Sequence conflict9761D → A in AAB09673. Ref.4

Secondary structure

............................... 1165
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform B (13.2) (OBRb) [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: CAA03BEAF2602D0A

FASTA1,165132,494
        10         20         30         40         50         60 
MICQKFCVVL LHWEFIYVIT AFNLSYPITP WRFKLSCMPP NSTYDYFLLP AGLSKNTSNS 

        70         80         90        100        110        120 
NGHYETAVEP KFNSSGTHFS NLSKTTFHCC FRSEQDRNCS LCADNIEGKT FVSTVNSLVF 

       130        140        150        160        170        180 
QQIDANWNIQ CWLKGDLKLF ICYVESLFKN LFRNYNYKVH LLYVLPEVLE DSPLVPQKGS 

       190        200        210        220        230        240 
FQMVHCNCSV HECCECLVPV PTAKLNDTLL MCLKITSGGV IFQSPLMSVQ PINMVKPDPP 

       250        260        270        280        290        300 
LGLHMEITDD GNLKISWSSP PLVPFPLQYQ VKYSENSTTV IREADKIVSA TSLLVDSILP 

       310        320        330        340        350        360 
GSSYEVQVRG KRLDGPGIWS DWSTPRVFTT QDVIYFPPKI LTSVGSNVSF HCIYKKENKI 

       370        380        390        400        410        420 
VPSKEIVWWM NLAEKIPQSQ YDVVSDHVSK VTFFNLNETK PRGKFTYDAV YCCNEHECHH 

       430        440        450        460        470        480 
RYAELYVIDV NINISCETDG YLTKMTCRWS TSTIQSLAES TLQLRYHRSS LYCSDIPSIH 

       490        500        510        520        530        540 
PISEPKDCYL QSDGFYECIF QPIFLLSGYT MWIRINHSLG SLDSPPTCVL PDSVVKPLPP 

       550        560        570        580        590        600 
SSVKAEITIN IGLLKISWEK PVFPENNLQF QIRYGLSGKE VQWKMYEVYD AKSKSVSLPV 

       610        620        630        640        650        660 
PDLCAVYAVQ VRCKRLDGLG YWSNWSNPAY TVVMDIKVPM RGPEFWRIIN GDTMKKEKNV 

       670        680        690        700        710        720 
TLLWKPLMKN DSLCSVQRYV INHHTSCNGT WSEDVGNHTK FTFLWTEQAH TVTVLAINSI 

       730        740        750        760        770        780 
GASVANFNLT FSWPMSKVNI VQSLSAYPLN SSCVIVSWIL SPSDYKLMYF IIEWKNLNED 

       790        800        810        820        830        840 
GEIKWLRISS SVKKYYIHDH FIPIEKYQFS LYPIFMEGVG KPKIINSFTQ DDIEKHQSDA 

       850        860        870        880        890        900 
GLYVIVPVII SSSILLLGTL LISHQRMKKL FWEDVPNPKN CSWAQGLNFQ KPETFEHLFI 

       910        920        930        940        950        960 
KHTASVTCGP LLLEPETISE DISVDTSWKN KDEMMPTTVV SLLSTTDLEK GSVCISDQFN 

       970        980        990       1000       1010       1020 
SVNFSEAEGT EVTYEDESQR QPFVKYATLI SNSKPSETGE EQGLINSSVT KCFSSKNSPL 

      1030       1040       1050       1060       1070       1080 
KDSFSNSSWE IEAQAFFILS DQHPNIISPH LTFSEGLDEL LKLEGNFPEE NNDKKSIYYL 

      1090       1100       1110       1120       1130       1140 
GVTSIKKRES GVLLTDKSRV SCPFPAPCLF TDIRVLQDSC SHFVENNINL GTSSKKTFAS 

      1150       1160 
YMPQFQTCST QTHKIMENKM CDLTV 

« Hide

Isoform A (6.4) (HuB219.3) [UniParc].

Checksum: D371C7A4186DEEF3
Show »

FASTA896102,490
Isoform C (12.1) (OBRa) [UniParc].

Checksum: 3F65BC5A187E803A
Show »

FASTA958109,393
Isoform D (HuB219.2) [UniParc].

Checksum: 07F4D89DDFDB83CA
Show »

FASTA906103,461
Isoform E [UniParc].

Checksum: 96CA923928EE36FA
Show »

FASTA83996,042

References

« Hide 'large scale' references
[1]"Identification and expression cloning of a leptin receptor, OB-R."
Tartaglia L.A., Dembski M., Weng X., Deng N., Culpepper J., Devos R., Richards G.J., Campfield L.A., Clark F.T., Deeds J., Muir C., Sanker S., Moriarty A., Moore K.J., Smutko J.S., Mays G.G., Woolf E.A., Monroe C.A., Tepper R.I.
Cell 83:1263-1271(1995) [PubMed] [Europe PMC] [Abstract]
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]"A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction."
Clement K., Vaisse C., Lahlou N., Cabrol S., Pelloux V., Cassuto D., Gourmelen M., Dina C., Chambaz J., Lacorte J.M., Basdevant A., Bougneres P., Lebouc Y., Froguel P., Guy-Grand B.
Nature 392:398-401(1998) [PubMed] [Europe PMC] [Abstract]
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]"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S. expand/collapse author list , Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K.
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-109 AND ARG-223.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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 expand/collapse EMBL AC list , U59248, U59249, U59250, U59252, U59253, U59254, U59255, U59256, U59257, U59258, U59259, U59260, U59261, U59262 Genomic DNA. Translation: AAB09673.1.
U50748 mRNA. Translation: AAC23650.1.
RefSeqNP_001003679.1. NM_001003679.3.
NP_001003680.1. NM_001003680.3.
NP_001185616.1. NM_001198687.1.
NP_001185617.1. NM_001198688.1.
NP_001185618.1. NM_001198689.1.
NP_002294.2. NM_002303.5.
UniGeneHs.23581.
Hs.258228.
Hs.723178.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3V6OX-ray1.95A/B428-633[»]
ProteinModelPortalP48357.
SMRP48357. Positions 125-326, 337-830.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110144. 11 interactions.
DIPDIP-6117N.
IntActP48357. 9 interactions.
MINTMINT-1387953.
STRING9606.ENSP00000330393.

Chemistry

ChEMBLCHEMBL5913.
GuidetoPHARMACOLOGY1712.

PTM databases

PhosphoSiteP48357.

Polymorphism databases

DMDM116242617.

Proteomic databases

PaxDbP48357.
PRIDEP48357.

Protocols and materials databases

DNASU3953.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000344610; ENSP00000340884; ENSG00000116678. [P48357-4]
ENST00000349533; ENSP00000330393; ENSG00000116678. [P48357-1]
ENST00000371058; ENSP00000360097; ENSG00000116678. [P48357-4]
ENST00000371059; ENSP00000360098; ENSG00000116678. [P48357-3]
ENST00000371060; ENSP00000360099; ENSG00000116678. [P48357-2]
GeneID3953.
KEGGhsa:3953.
hsa:54741.
UCSCuc001dcg.3. human. [P48357-3]
uc001dch.3. human. [P48357-2]
uc001dci.3. human. [P48357-1]
uc021ool.1. human. [P48357-4]

Organism-specific databases

CTD3953.
54741.
GeneCardsGC01P065886.
HGNCHGNC:6554. LEPR.
HPAHPA030899.
MIM601007. gene.
614963. phenotype.
neXtProtNX_P48357.
Orphanet179494. Obesity due to leptin receptor gene deficiency.
PharmGKBPA229.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG29456.
HOVERGENHBG000140.
InParanoidP48357.
KOK05062.
OMASWAQGLN.
OrthoDBEOG7034GB.
PhylomeDBP48357.
TreeFamTF106501.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
SignaLinkP48357.

Gene expression databases

ArrayExpressP48357.
BgeeP48357.
CleanExHS_LEPR.
GenevestigatorP48357.

Family and domain databases

Gene3D2.60.40.10. 4 hits.
InterProIPR003961. 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]
PANTHERPTHR23036:SF11. PTHR23036:SF11. 1 hit.
PfamPF06328. Lep_receptor_Ig. 1 hit.
[Graphical view]
SMARTSM00060. FN3. 4 hits.
[Graphical view]
SUPFAMSSF49265. SSF49265. 4 hits.
PROSITEPS50853. FN3. 3 hits.
PS01353. HEMATOPO_REC_L_F2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiLeptin_receptor.
NextBio15505.
PROP48357.
SOURCESearch...

Entry information

Entry nameLEPR_HUMAN
AccessionPrimary (citable) accession number: P48357
Secondary accession number(s): Q13592 expand/collapse secondary AC list , Q13593, Q13594, Q92919, Q92920, Q92921
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 157 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

Human cell differentiation molecules

CD nomenclature of surface proteins of human leucocytes and list of entries