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P41159

- LEP_HUMAN

UniProt

P41159 - LEP_HUMAN

Protein

Leptin

Gene

LEP

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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 catabolic process Source: Ensembl
    13. female pregnancy Source: Ensembl
    14. glucose metabolic process Source: Ensembl
    15. glycerol biosynthetic process Source: Ensembl
    16. hormone metabolic process Source: Ensembl
    17. insulin secretion Source: Ensembl
    18. leptin-mediated signaling pathway Source: Ensembl
    19. leukocyte tethering or rolling Source: Ensembl
    20. negative regulation of apoptotic process Source: Ensembl
    21. negative regulation of appetite Source: HGNC
    22. negative regulation of cartilage development Source: Ensembl
    23. negative regulation of glucagon secretion Source: Ensembl
    24. negative regulation of glutamine transport Source: Ensembl
    25. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    26. negative regulation of vasoconstriction Source: Ensembl
    27. ovulation from ovarian follicle Source: Ensembl
    28. placenta development Source: DFLAT
    29. positive regulation of cell proliferation Source: Ensembl
    30. positive regulation of cytokine production Source: Ensembl
    31. positive regulation of developmental growth Source: DFLAT
    32. positive regulation of follicle-stimulating hormone secretion Source: Ensembl
    33. positive regulation of hepatic stellate cell activation Source: Ensembl
    34. positive regulation of insulin receptor signaling pathway Source: Ensembl
    35. positive regulation of ion transport Source: Ensembl
    36. positive regulation of luteinizing hormone secretion Source: Ensembl
    37. positive regulation of MAPK cascade Source: Ensembl
    38. positive regulation of myeloid cell differentiation Source: Ensembl
    39. positive regulation of STAT protein import into nucleus Source: Ensembl
    40. positive regulation of tyrosine phosphorylation of Stat3 protein Source: Ensembl
    41. regulation of blood pressure Source: Ensembl
    42. regulation of fat cell differentiation Source: Ensembl
    43. regulation of gluconeogenesis Source: Ensembl
    44. regulation of insulin secretion Source: Ensembl
    45. regulation of intestinal cholesterol absorption Source: Ensembl
    46. regulation of lipoprotein lipid oxidation Source: Ensembl
    47. regulation of steroid biosynthetic process Source: Ensembl
    48. response to dietary excess Source: Ensembl
    49. response to hypoxia Source: Ensembl
    50. response to insulin Source: Ensembl
    51. response to vitamin E Source: Ensembl
    52. tyrosine phosphorylation of STAT protein Source: Ensembl

    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

    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

    ArrayExpressiP41159.
    BgeeiP41159.
    CleanExiHS_LEP.
    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.
    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

    MHWGTLCGFL WLWPYLFYVQ AVPIQKVQDD TKTLIKTIVT RINDISHTQS    50
    VSSKQKVTGL DFIPGLHPIL TLSKMDQTLA VYQQILTSMP SRNVIQISND 100
    LENLRDLLHV LAFSKSCHLP WASGLETLDS LGGVLEASGY STEVVALSRL 150
    QGSLQDMLWQ LDLSPGC 167
    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.
    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

    ArrayExpressi P41159.
    Bgeei P41159.
    CleanExi HS_LEP.
    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

    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 1, 2014
    This is version 148 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