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Reviewed, UniProtKB/Swiss-Prot P41159 (LEP_HUMAN)

Last modified July 7, 2009. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Leptin
Alternative name(s):
    Obesity factor
    Obese protein
Gene names
Name: LEP
Synonyms: OB, OBS
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length167 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

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.

Subunit structure

Interacts with SIGLEC6. Ref.11

Subcellular location

Secreted.

Involvement in disease

Defects in LEP may be a cause of autosomal recessive obesity [MIM:601665].

Sequence similarities

Belongs to the leptin family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 167146Leptin
PRO_0000017685

Amino acid modifications

Disulfide bond117 ↔ 167

Natural variations

Natural variant491Missing in 30% the clones.
VAR_004196
Natural variant941V → M: dbSNP rs17151919. Ref.9 Ref.15
VAR_004197
Natural variant1051R → W in morbid obesity and hypogonadism. Ref.16
VAR_008094
Natural variant1101V → M: dbSNP rs1800564.
VAR_011955

Experimental info

Sequence conflict961Q → R in AAB63507. Ref.8

Secondary structure

............. 167
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P41159-1 [UniParc].

Last modified February 1, 1995. Version 1.
Checksum: C91A121E92D37B69

FASTA16718,641
        10         20         30         40         50         60 
MHWGTLCGFL WLWPYLFYVQ AVPIQKVQDD TKTLIKTIVT RINDISHTQS VSSKQKVTGL 

        70         80         90        100        110        120 
DFIPGLHPIL TLSKMDQTLA VYQQILTSMP SRNVIQISND LENLRDLLHV LAFSKSCHLP 

       130        140        150        160 
WASGLETLDS LGGVLEASGY STEVVALSRL QGSLQDMLWQ LDLSPGC 

« Hide

References

« Hide 'large scale' references
[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: 7984236] [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: 7789654] [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: 8626726] [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]"Structural organization and chromosomal assignment of the human obese gene."
Isse N., Ogawa Y., Tamura N., Masuzaki H., Mori K., Okazaki T., Satoh N., Shigemoto M., Yoshimasa Y., Nishi S., Hosada K., Inazawa J., Nakao K.
J. Biol. Chem. 270:27728-27733(1995) [PubMed: 7499240] [Abstract]
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: 8621021] [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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[11]"OB-BP1/Siglec-6. A leptin- and sialic acid-binding protein of the immunoglobulin superfamily."
Patel N., Brinkman-Van der Linden E.C.M., Altmann S.W., Gish K.C., Balasubramanian S., Timans J.C., Peterson D., Bell M.P., Bazan J.F., Varki A., Kastelein R.A.
J. Biol. Chem. 274:22729-22738(1999) [PubMed: 10428856] [Abstract]
Cited for: INTERACTION WITH SIGLEC6.
[12]Erratum
Patel N., Brinkman-Van der Linden E.C.M., Altmann S.W., Gish K.C., Balasubramanian S., Timans J.C., Peterson D., Bell M.P., Bazan J.F., Varki A., Kastelein R.A.
J. Biol. Chem. 274:28058-28058(1999)
[13]"Leptin is a four-helix bundle: secondary structure by NMR."
Kline A.D., Becker G.W., Churgay L.M., Landen B.E., Martin D.K., Muth W.L., Rathnachalam R., Richardson J.M., Schoner B., Ulmer M., Hale J.E.
FEBS Lett. 407:239-242(1997) [PubMed: 9166907] [Abstract]
Cited for: STRUCTURE BY NMR.
[14]"Crystal structure of the obese protein leptin-E100."
Zhang F., Basinski M.B., Beals J.M., Briggs S.L., Churgay L.M., Clawson D.K., Dimarchi R.D., Furman T.C., Hale J.E., Hsiung H.M., Schoner B.E., Smith D.P., Zhang X.Y., Wery J.P., Schevitz R.W.
Nature 387:206-209(1997) [PubMed: 9144295] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS).
[15]"A novel polymorphism in the leptin gene."
Bartholomew D.W., McClellan J.M.
Hum. Mutat. 12:220-220(1998)
Cited for: VARIANT MET-94.
[16]"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: 9500540] [Abstract]
Cited for: VARIANT MORBID OBESITY TRP-105.
+Additional computationally mapped references.

Cross-references

Sequence databases

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.
IPIIPI00012760.
PIRLTHU. A38952.
I53166.
RefSeqNP_000221.1.
UniGeneHs.194236

3D structure databases

EntryMethodResolution (Å)ChainPositionsPDBsum
1AX8X-ray2.40A22-167[»]
SMRP41159. Positions 24-167.
ModBaseSearch...

Protein-protein interaction databases

DIPDIP:6116N.

Proteomic databases

PeptideAtlasP41159.
PRIDEP41159.

Genome annotation databases

EnsemblENSG00000174697. Homo sapiens. [Contig view]
GeneID3952.
KEGGhsa:3952.
UCSCuc003vml.2. human.

Organism-specific databases

GeneCardsGC07P127668.
H-InvDBHIX0033518.
HGNCHGNC:6553. LEP.
HPACAB010490.
CAB016730.
MIM164160. gene.
601665. phenotype.
Orphanet66628. Obesity due to congenital leptin deficiency.
PharmGKBPA228.
GenAtlasSearch...

Phylogenomic databases

HOGENOMP41159.
HOVERGENP41159.
OMAP41159. GLDFIPG.

Enzyme and pathway databases

Pathway_Interaction_DBhif1_tfpathway. HIF-1-alpha transcription factor network.
ptp1bpathway. Signaling events mediated by PTP1B.

Gene expression databases

ArrayExpressP41159.
BgeeP41159.
CleanExHS_LEP.
GermOnlineENSG00000174697. Homo sapiens.

Family and domain databases

InterProIPR012351. 4_helix_cytokine_core.
IPR000065. Leptin.
[Graphical view]
Gene3DG3DSA:1.20.1250.10. 4_helix_cytokine_core. 1 hit.
PANTHERPTHR11724. Leptin. 1 hit.
PfamPF02024. Leptin. 1 hit.
[Graphical view]
PIRSFPIRSF001837. Leptin. 1 hit.
PRINTSPR00495. LEPTIN.
ProDomPD005698. Leptin. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetSearch...

Other Resources

NextBio15501.
SOURCESearch...

Entry information

Entry nameLEP_HUMAN
AccessionPrimary (citable) accession number: P41159
Secondary accession number(s): O15158, Q56A88
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: February 1, 1995
Last modified: July 7, 2009
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents