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P48357

- LEPR_HUMAN

UniProt

P48357 - LEPR_HUMAN

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Protein

Leptin receptor

Gene

LEPR

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

Functioni

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).By similarity

GO - Molecular functioni

  1. cytokine receptor activity Source: InterPro
  2. identical protein binding Source: IntAct
  3. transmembrane signaling receptor activity Source: ProtInc

GO - Biological processi

  1. cell surface receptor signaling pathway Source: ProtInc
  2. cholesterol metabolic process Source: Ensembl
  3. energy reserve metabolic process Source: ProtInc
  4. multicellular organismal development Source: ProtInc
  5. negative regulation of gluconeogenesis Source: Ensembl
  6. negative regulation of hydrolase activity Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Enzyme and pathway databases

ReactomeiREACT_169118. Signaling by Leptin.
SignaLinkiP48357.

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:6554. LEPR.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 839818ExtracellularSequence AnalysisAdd
BLAST
Transmembranei840 – 86223HelicalSequence AnalysisAdd
BLAST
Topological domaini863 – 1165303CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. extracellular region Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
  3. plasma membrane Source: Reactome
  4. receptor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

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

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi986 – 9861Y → F: Greatly reduced PTPN11 binding; no PTPN11 phosphorylation; no effect on STAT3 phosphorylation. 1 Publication
Mutagenesisi1078 – 10792YY → FF: No effect on PTPN11 nor STAT3 phosphorylation. 1 Publication
Mutagenesisi1141 – 11411Y → F: No effect on PTPN11 phosphorylation; no STAT3 phosphorylation. 1 Publication

Keywords - Diseasei

Obesity

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Add
BLAST
Chaini22 – 11651144Leptin receptorPRO_0000010904Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi23 – 231N-linked (GlcNAc...)1 Publication
Disulfide bondi37 ↔ 90
Glycosylationi41 – 411N-linked (GlcNAc...)1 Publication
Glycosylationi56 – 561N-linked (GlcNAc...)1 Publication
Glycosylationi73 – 731N-linked (GlcNAc...)1 Publication
Glycosylationi81 – 811N-linked (GlcNAc...)1 Publication
Disulfide bondi89 ↔ 99
Glycosylationi98 – 981N-linked (GlcNAc...)1 Publication
Disulfide bondi131 ↔ 142
Disulfide bondi186 ↔ 196
Glycosylationi187 – 1871N-linked (GlcNAc...)1 Publication
Disulfide bondi188 ↔ 193
Glycosylationi206 – 2061N-linked (GlcNAc...)1 Publication
Glycosylationi276 – 2761N-linked (GlcNAc...)3 Publications
Glycosylationi347 – 3471N-linked (GlcNAc...)1 Publication
Disulfide bondi352 ↔ 412
Glycosylationi397 – 3971N-linked (GlcNAc...)2 Publications
Disulfide bondi413 ↔ 418
Disulfide bondi436 ↔ 447
Disulfide bondi473 ↔ 528
Disulfide bondi488 ↔ 498
Glycosylationi516 – 5161N-linked (GlcNAc...)2 Publications
Glycosylationi624 – 6241N-linked (GlcNAc...)1 Publication
Glycosylationi659 – 6591N-linked (GlcNAc...)1 Publication
Glycosylationi688 – 6881N-linked (GlcNAc...)1 Publication
Glycosylationi697 – 6971N-linked (GlcNAc...)1 Publication
Glycosylationi728 – 7281N-linked (GlcNAc...)1 Publication
Glycosylationi750 – 7501N-linked (GlcNAc...)1 Publication
Modified residuei986 – 9861Phosphotyrosine; by JAK2By similarity
Modified residuei1079 – 10791PhosphotyrosineBy similarity
Modified residuei1141 – 11411Phosphotyrosine; by JAK2By similarity

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 and, for interaction with SOCS3 (By similarity). Phosphorylation on Tyr-1141 is required for STAT3 binding/activation.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiP48357.
PaxDbiP48357.
PRIDEiP48357.

PTM databases

PhosphoSiteiP48357.

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.

Gene expression databases

BgeeiP48357.
CleanExiHS_LEPR.
ExpressionAtlasiP48357. baseline and differential.
GenevestigatoriP48357.

Organism-specific databases

HPAiHPA030899.

Interactioni

Subunit structurei

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).By similarity

Binary interactionsi

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

Protein-protein interaction databases

BioGridi110144. 12 interactions.
DIPiDIP-6117N.
IntActiP48357. 9 interactions.
MINTiMINT-1387953.
STRINGi9606.ENSP00000330393.

Structurei

Secondary structure

1
1165
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi435 – 4384Combined sources
Beta strandi445 – 4495Combined sources
Beta strandi461 – 4688Combined sources
Beta strandi484 – 4863Combined sources
Beta strandi488 – 4903Combined sources
Beta strandi496 – 5005Combined sources
Beta strandi509 – 5168Combined sources
Beta strandi527 – 5293Combined sources
Helixi531 – 5344Combined sources
Beta strandi544 – 5485Combined sources
Turni549 – 5524Combined sources
Beta strandi553 – 5575Combined sources
Beta strandi568 – 58013Combined sources
Beta strandi584 – 5885Combined sources
Beta strandi595 – 5984Combined sources
Beta strandi607 – 6159Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3V6OX-ray1.95A/B428-633[»]
ProteinModelPortaliP48357.
SMRiP48357. Positions 128-330, 337-830.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini239 – 33395Fibronectin type-III 1PROSITE-ProRule annotationAdd
BLAST
Domaini331 – 42999Ig-likeAdd
BLAST
Domaini539 – 63496Fibronectin type-III 2PROSITE-ProRule annotationAdd
BLAST
Domaini639 – 73294Fibronectin type-III 3PROSITE-ProRule annotationAdd
BLAST
Domaini740 – 83394Fibronectin type-III 4PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni467 – 48418Leptin-bindingCuratedAdd
BLAST
Regioni893 – 8986Required for JAK2 activationBy similarity

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi622 – 6265WSXWS motif
Motifi871 – 8799Box 1 motif

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

eggNOGiNOG29456.
GeneTreeiENSGT00730000111209.
HOVERGENiHBG000140.
InParanoidiP48357.
KOiK05062.
OMAiSWAQGLN.
OrthoDBiEOG7034GB.
PhylomeDBiP48357.
TreeFamiTF106501.

Family and domain databases

Gene3Di2.60.40.10. 4 hits.
InterProiIPR003961. 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]
PANTHERiPTHR23036:SF11. PTHR23036:SF11. 1 hit.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti85 – 851T → A in AAC50509. (PubMed:8616721)Curated
Sequence conflicti85 – 851T → A in AAC50510. (PubMed:8616721)Curated
Sequence conflicti85 – 851T → A in AAC50511. (PubMed:8616721)Curated
Sequence conflicti976 – 9761D → A in AAA93015. (PubMed:8548812)Curated
Sequence conflicti976 – 9761D → A in AAB09673. (PubMed:9158141)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti109 – 1091K → R.7 Publications
Corresponds to variant rs1137100 [ dbSNP | Ensembl ].
VAR_002703
Natural varianti124 – 1241D → G.
Corresponds to variant rs35573508 [ dbSNP | Ensembl ].
VAR_049167
Natural varianti204 – 2041K → R.1 Publication
VAR_002704
Natural varianti223 – 2231Q → R.8 Publications
Corresponds to variant rs1137101 [ dbSNP | Ensembl ].
VAR_002705
Natural varianti503 – 5031I → V.
Corresponds to variant rs13306526 [ dbSNP | Ensembl ].
VAR_028201
Natural varianti656 – 6561K → N.4 Publications
Corresponds to variant rs8179183 [ dbSNP | Ensembl ].
VAR_002706
Natural varianti675 – 6751S → T.1 Publication
VAR_002707
Natural varianti699 – 6991T → M.
Corresponds to variant rs34499590 [ dbSNP | Ensembl ].
VAR_049168

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei840 – 1165326Missing in isoform E. 1 PublicationVSP_001688Add
BLAST
Alternative sequencei892 – 95867PETFE…CISDQ → MLEGSMFVKSHHHSLISSTQ GHKHCGRPQGPLHRKTRDLC SLVYLLTLPPLLSYDPAKSP SVRNTQE in isoform C. 2 PublicationsVSP_001691Add
BLAST
Alternative sequencei892 – 90615PETFE…HTASV → KMPGTKELLGGGWLT in isoform D. 1 PublicationVSP_001693Add
BLAST
Alternative sequencei892 – 8965PETFE → RTDIL in isoform A. 3 PublicationsVSP_001689
Alternative sequencei897 – 1165269Missing in isoform A. 3 PublicationsVSP_001690Add
BLAST
Alternative sequencei907 – 1165259Missing in isoform D. 1 PublicationVSP_001694Add
BLAST
Alternative sequencei959 – 1165207Missing in isoform C. 2 PublicationsVSP_001692Add
BLAST

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.3. human. [P48357-3]
uc001dch.3. human. [P48357-2]
uc001dci.3. human. [P48357-1]
uc021ool.1. human. [P48357-4]

Polymorphism databases

DMDMi116242617.

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 .
CCDSi CCDS30740.1. [P48357-2 ]
CCDS30741.1. [P48357-3 ]
CCDS55604.1. [P48357-4 ]
CCDS631.1. [P48357-1 ]
RefSeqi NP_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 ]
UniGenei Hs.23581.
Hs.723178.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3V6O X-ray 1.95 A/B 428-633 [» ]
ProteinModelPortali P48357.
SMRi P48357. Positions 128-330, 337-830.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110144. 12 interactions.
DIPi DIP-6117N.
IntActi P48357. 9 interactions.
MINTi MINT-1387953.
STRINGi 9606.ENSP00000330393.

Chemistry

ChEMBLi CHEMBL5913.
GuidetoPHARMACOLOGYi 1712.

PTM databases

PhosphoSitei P48357.

Polymorphism databases

DMDMi 116242617.

Proteomic databases

MaxQBi P48357.
PaxDbi P48357.
PRIDEi P48357.

Protocols and materials databases

DNASUi 3953.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000344610 ; 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 ]
GeneIDi 3953.
KEGGi hsa:3953.
UCSCi uc001dcg.3. human. [P48357-3 ]
uc001dch.3. human. [P48357-2 ]
uc001dci.3. human. [P48357-1 ]
uc021ool.1. human. [P48357-4 ]

Organism-specific databases

CTDi 3953.
GeneCardsi GC01P065886.
HGNCi HGNC:6554. LEPR.
HPAi HPA030899.
MIMi 601007. gene.
614963. phenotype.
neXtProti NX_P48357.
Orphaneti 179494. Obesity due to leptin receptor gene deficiency.
PharmGKBi PA229.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG29456.
GeneTreei ENSGT00730000111209.
HOVERGENi HBG000140.
InParanoidi P48357.
KOi K05062.
OMAi SWAQGLN.
OrthoDBi EOG7034GB.
PhylomeDBi P48357.
TreeFami TF106501.

Enzyme and pathway databases

Reactomei REACT_169118. Signaling by Leptin.
SignaLinki P48357.

Miscellaneous databases

GeneWikii Leptin_receptor.
GenomeRNAii 3953.
NextBioi 15505.
PROi P48357.
SOURCEi Search...

Gene expression databases

Bgeei P48357.
CleanExi HS_LEPR.
ExpressionAtlasi P48357. baseline and differential.
Genevestigatori P48357.

Family and domain databases

Gene3Di 2.60.40.10. 4 hits.
InterProi IPR003961. 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 ]
PANTHERi PTHR23036:SF11. PTHR23036:SF11. 1 hit.
Pfami PF06328. Lep_receptor_Ig. 1 hit.
[Graphical view ]
SMARTi SM00060. FN3. 4 hits.
[Graphical view ]
SUPFAMi SSF49265. SSF49265. 4 hits.
PROSITEi PS50853. FN3. 3 hits.
PS01353. HEMATOPO_REC_L_F2. 1 hit.
[Graphical view ]
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Publicationsi

« Hide 'large scale' publications
  1. 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. 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. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-109 AND ARG-223.

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: October 29, 2014
This is version 163 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

External Data

Dasty 3