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P41159

- LEP_HUMAN

UniProt

P41159 - LEP_HUMAN

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Protein

Leptin

Gene

LEP

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

Functioni

May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass.

GO - Biological processi

  1. adipose tissue development Source: Ensembl
  2. adult feeding behavior Source: HGNC
  3. bile acid metabolic process Source: Ensembl
  4. bone mineralization involved in bone maturation Source: Ensembl
  5. cellular response to L-ascorbic acid Source: Ensembl
  6. cellular response to retinoic acid Source: Ensembl
  7. central nervous system neuron development Source: Ensembl
  8. cholesterol metabolic process Source: Ensembl
  9. circadian rhythm Source: Ensembl
  10. eating behavior Source: Ensembl
  11. energy reserve metabolic process Source: ProtInc
  12. fatty acid beta-oxidation Source: Ensembl
  13. female pregnancy Source: Ensembl
  14. glucose homeostasis Source: Ensembl
  15. glucose metabolic process Source: Ensembl
  16. glycerol biosynthetic process Source: Ensembl
  17. hormone metabolic process Source: Ensembl
  18. insulin secretion Source: Ensembl
  19. leptin-mediated signaling pathway Source: Ensembl
  20. leukocyte tethering or rolling Source: Ensembl
  21. negative regulation of apoptotic process Source: Ensembl
  22. negative regulation of appetite Source: HGNC
  23. negative regulation of cartilage development Source: Ensembl
  24. negative regulation of glucagon secretion Source: Ensembl
  25. negative regulation of glutamine transport Source: Ensembl
  26. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  27. negative regulation of vasoconstriction Source: Ensembl
  28. ovulation from ovarian follicle Source: Ensembl
  29. placenta development Source: DFLAT
  30. positive regulation of cell proliferation Source: Ensembl
  31. positive regulation of cytokine production Source: Ensembl
  32. positive regulation of developmental growth Source: DFLAT
  33. positive regulation of follicle-stimulating hormone secretion Source: Ensembl
  34. positive regulation of hepatic stellate cell activation Source: Ensembl
  35. positive regulation of insulin receptor signaling pathway Source: Ensembl
  36. positive regulation of ion transport Source: Ensembl
  37. positive regulation of luteinizing hormone secretion Source: Ensembl
  38. positive regulation of MAPK cascade Source: Ensembl
  39. positive regulation of myeloid cell differentiation Source: Ensembl
  40. positive regulation of STAT protein import into nucleus Source: Ensembl
  41. positive regulation of tyrosine phosphorylation of Stat3 protein Source: Ensembl
  42. regulation of blood pressure Source: Ensembl
  43. regulation of fat cell differentiation Source: Ensembl
  44. regulation of gluconeogenesis Source: Ensembl
  45. regulation of insulin secretion Source: Ensembl
  46. regulation of intestinal cholesterol absorption Source: Ensembl
  47. regulation of lipoprotein lipid oxidation Source: Ensembl
  48. regulation of steroid biosynthetic process Source: Ensembl
  49. response to dietary excess Source: Ensembl
  50. response to hypoxia Source: Ensembl
  51. response to insulin Source: Ensembl
  52. response to vitamin E Source: Ensembl
  53. tyrosine phosphorylation of STAT protein Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_169118. Signaling by Leptin.
REACT_19189. Synthesis, secretion, and deacylation of Ghrelin.
REACT_24019. Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1).
REACT_27161. Transcriptional regulation of white adipocyte differentiation.
SignaLinkiP41159.

Names & Taxonomyi

Protein namesi
Recommended name:
Leptin
Alternative name(s):
Obese protein
Obesity factor
Gene namesi
Name:LEP
Synonyms:OB, OBS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:6553. LEP.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. extracellular region Source: Reactome
  3. extracellular space Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Leptin deficiency (LEPD) [MIM:614962]: A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti105 – 1051R → W in LEPD. 1 Publication
Corresponds to variant rs104894023 [ dbSNP | Ensembl ].
VAR_008094

Keywords - Diseasei

Diabetes mellitus, Disease mutation, Obesity

Organism-specific databases

MIMi614962. phenotype.
Orphaneti66628. Obesity due to congenital leptin deficiency.
PharmGKBiPA228.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121Sequence AnalysisAdd
BLAST
Chaini22 – 167146LeptinPRO_0000017685Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi117 ↔ 167

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiP41159.
PeptideAtlasiP41159.
PRIDEiP41159.

PTM databases

PhosphoSiteiP41159.

Expressioni

Gene expression databases

BgeeiP41159.
CleanExiHS_LEP.
ExpressionAtlasiP41159. baseline and differential.
GenevestigatoriP41159.

Organism-specific databases

HPAiCAB010490.
CAB016730.
HPA030721.

Interactioni

Subunit structurei

Interacts with SIGLEC6.1 Publication

Protein-protein interaction databases

BioGridi110143. 4 interactions.
DIPiDIP-6116N.
STRINGi9606.ENSP00000312652.

Structurei

Secondary structure

1
167
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi25 – 4420
Helixi72 – 8716
Helixi92 – 11423
Helixi128 – 1314
Helixi132 – 1354
Helixi142 – 16019
Helixi161 – 1633

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1AX8X-ray2.40A22-167[»]
ProteinModelPortaliP41159.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP41159.

Family & Domainsi

Sequence similaritiesi

Belongs to the leptin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG45133.
GeneTreeiENSGT00390000011772.
HOGENOMiHOG000252923.
HOVERGENiHBG007860.
InParanoidiP41159.
KOiK05424.
OMAiTIVTRIN.
OrthoDBiEOG77Q4Z3.
PhylomeDBiP41159.
TreeFamiTF105086.

Family and domain databases

Gene3Di1.20.1250.10. 1 hit.
InterProiIPR009079. 4_helix_cytokine-like_core.
IPR012351. 4_helix_cytokine_core.
IPR000065. Leptin.
[Graphical view]
PANTHERiPTHR11724. PTHR11724. 1 hit.
PfamiPF02024. Leptin. 1 hit.
[Graphical view]
PIRSFiPIRSF001837. Leptin. 1 hit.
PRINTSiPR00495. LEPTIN.
ProDomiPD005698. Leptin. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SUPFAMiSSF47266. SSF47266. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P41159-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MHWGTLCGFL WLWPYLFYVQ AVPIQKVQDD TKTLIKTIVT RINDISHTQS
60 70 80 90 100
VSSKQKVTGL DFIPGLHPIL TLSKMDQTLA VYQQILTSMP SRNVIQISND
110 120 130 140 150
LENLRDLLHV LAFSKSCHLP WASGLETLDS LGGVLEASGY STEVVALSRL
160
QGSLQDMLWQ LDLSPGC
Length:167
Mass (Da):18,641
Last modified:February 1, 1995 - v1
Checksum:iC91A121E92D37B69
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti96 – 961Q → R in AAB63507. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491Missing in 30% the clones.
VAR_004196
Natural varianti94 – 941V → M.2 Publications
Corresponds to variant rs17151919 [ dbSNP | Ensembl ].
VAR_004197
Natural varianti105 – 1051R → W in LEPD. 1 Publication
Corresponds to variant rs104894023 [ dbSNP | Ensembl ].
VAR_008094
Natural varianti110 – 1101V → M.
Corresponds to variant rs1800564 [ dbSNP | Ensembl ].
VAR_011955

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U18915 mRNA. Translation: AAA60470.1.
D49487 mRNA. Translation: BAA08448.1.
U43653 mRNA. Translation: AAC50400.1.
U43415 Genomic DNA. Translation: AAC31660.1.
D63710 Genomic DNA. Translation: BAA09839.1.
D63519 Genomic DNA. Translation: BAA09787.1.
AF008123 mRNA. Translation: AAB63507.1.
AY996373 Genomic DNA. Translation: AAX81413.1.
BC060830 mRNA. Translation: AAH60830.1.
BC069452 mRNA. Translation: AAH69452.1.
BC069527 mRNA. Translation: AAH69527.1.
CCDSiCCDS5800.1.
PIRiA38952. LTHU.
I53166.
RefSeqiNP_000221.1. NM_000230.2.
XP_005250397.1. XM_005250340.2.
UniGeneiHs.194236.

Genome annotation databases

EnsembliENST00000308868; ENSP00000312652; ENSG00000174697.
GeneIDi3952.
KEGGihsa:3952.
UCSCiuc003vml.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

R&D Systems' cytokine mini-reviews: Leptin
Wikipedia

Leptin entry

SeattleSNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U18915 mRNA. Translation: AAA60470.1 .
D49487 mRNA. Translation: BAA08448.1 .
U43653 mRNA. Translation: AAC50400.1 .
U43415 Genomic DNA. Translation: AAC31660.1 .
D63710 Genomic DNA. Translation: BAA09839.1 .
D63519 Genomic DNA. Translation: BAA09787.1 .
AF008123 mRNA. Translation: AAB63507.1 .
AY996373 Genomic DNA. Translation: AAX81413.1 .
BC060830 mRNA. Translation: AAH60830.1 .
BC069452 mRNA. Translation: AAH69452.1 .
BC069527 mRNA. Translation: AAH69527.1 .
CCDSi CCDS5800.1.
PIRi A38952. LTHU.
I53166.
RefSeqi NP_000221.1. NM_000230.2.
XP_005250397.1. XM_005250340.2.
UniGenei Hs.194236.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1AX8 X-ray 2.40 A 22-167 [» ]
ProteinModelPortali P41159.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110143. 4 interactions.
DIPi DIP-6116N.
STRINGi 9606.ENSP00000312652.

PTM databases

PhosphoSitei P41159.

Proteomic databases

PaxDbi P41159.
PeptideAtlasi P41159.
PRIDEi P41159.

Protocols and materials databases

DNASUi 3952.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000308868 ; ENSP00000312652 ; ENSG00000174697 .
GeneIDi 3952.
KEGGi hsa:3952.
UCSCi uc003vml.2. human.

Organism-specific databases

CTDi 3952.
GeneCardsi GC07P127881.
HGNCi HGNC:6553. LEP.
HPAi CAB010490.
CAB016730.
HPA030721.
MIMi 164160. gene.
614962. phenotype.
neXtProti NX_P41159.
Orphaneti 66628. Obesity due to congenital leptin deficiency.
PharmGKBi PA228.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG45133.
GeneTreei ENSGT00390000011772.
HOGENOMi HOG000252923.
HOVERGENi HBG007860.
InParanoidi P41159.
KOi K05424.
OMAi TIVTRIN.
OrthoDBi EOG77Q4Z3.
PhylomeDBi P41159.
TreeFami TF105086.

Enzyme and pathway databases

Reactomei REACT_169118. Signaling by Leptin.
REACT_19189. Synthesis, secretion, and deacylation of Ghrelin.
REACT_24019. Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1).
REACT_27161. Transcriptional regulation of white adipocyte differentiation.
SignaLinki P41159.

Miscellaneous databases

EvolutionaryTracei P41159.
GeneWikii Leptin.
GenomeRNAii 3952.
NextBioi 15501.
PROi P41159.
SOURCEi Search...

Gene expression databases

Bgeei P41159.
CleanExi HS_LEP.
ExpressionAtlasi P41159. baseline and differential.
Genevestigatori P41159.

Family and domain databases

Gene3Di 1.20.1250.10. 1 hit.
InterProi IPR009079. 4_helix_cytokine-like_core.
IPR012351. 4_helix_cytokine_core.
IPR000065. Leptin.
[Graphical view ]
PANTHERi PTHR11724. PTHR11724. 1 hit.
Pfami PF02024. Leptin. 1 hit.
[Graphical view ]
PIRSFi PIRSF001837. Leptin. 1 hit.
PRINTSi PR00495. LEPTIN.
ProDomi PD005698. Leptin. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
SUPFAMi SSF47266. SSF47266. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Positional cloning of the mouse obese gene and its human homologue."
    Zhang Y., Proenca P., Maffei M., Barone M., Leopold L., Friedman J.M.
    Nature 372:425-432(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Erratum
    Zhang Y., Proenca P., Maffei M., Barone M., Leopold L., Friedman J.M.
    Nature 374:479-479(1995)
  3. "Human obese gene expression. Adipocyte-specific expression and regional differences in the adipose tissue."
    Masuzaki H., Ogawa Y., Isse N., Satoh N., Okazaki T., Shigemoto M., Mori K., Tamura N., Hosoda K., Yoshimasa Y., Jingami H., Kawada T., Nakao K.
    Diabetes 44:855-858(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. "Genomic structure and promoter analysis of the human obese gene."
    Gong D.W., Bi S., Pratley R.E., Weintraub B.D.
    J. Biol. Chem. 271:3971-3974(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  5. Chehab F.F., Lim M.E.
    Submitted (DEC-1995) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  7. "Human obese gene: molecular screening in Japanese and Asian Indian NIDDM patients associated with obesity."
    Niki T., Mori H., Tamori Y., Kishimoto-Hashiramoto M., Ueno H., Araki S., Masugi J., Sawant N., Majithia H.R., Rais N., Hashiramoto M., Taniguchi H., Kasuga M.
    Diabetes 45:675-678(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  8. Lu L., Fu Z., Xu M., Fu Y., Hu Z.
    Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  9. SeattleSNPs variation discovery resource
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MET-94.
  10. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Placenta.
  11. Cited for: INTERACTION WITH SIGLEC6.
  12. Cited for: STRUCTURE BY NMR.
  13. Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS).
  14. "A novel polymorphism in the leptin gene."
    Bartholomew D.W., McClellan J.M.
    Hum. Mutat. 12:220-220(1998)
    Cited for: VARIANT MET-94.
  15. "A leptin missense mutation associated with hypogonadism and morbid obesity."
    Strobel A., Issad T., Camoin L., Ozata M., Strosberg A.D.
    Nat. Genet. 18:213-215(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LEPD TRP-105.

Entry informationi

Entry nameiLEP_HUMAN
AccessioniPrimary (citable) accession number: P41159
Secondary accession number(s): O15158, Q56A88
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: October 29, 2014
This is version 149 of the entry and version 1 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, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3