LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010] See more...

Aliases for LEPROT Gene

Aliases for LEPROT Gene

  • Leptin Receptor Overlapping Transcript 2 3 5
  • Endospanin-1 2 3 4
  • OB-RGRP 2 3 4
  • Leptin Receptor Overlapping Transcript Protein 3 4
  • Leptin Receptor Gene-Related Protein 3 4
  • OB-R Gene-Related Protein 3 4
  • Endospanin 2 3
  • OBRGRP 2 3
  • VPS55 2 3
  • LEPR 3 4
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 6 3
  • Leptin Receptor Gene Related Protein 2
  • FLJ90360 2
  • LEPROT 5
  • OBR 4

External Ids for LEPROT Gene

Previous GeneCards Identifiers for LEPROT Gene

  • GC01P065600
  • GC01P065658
  • GC01P065887
  • GC01P063996

Summaries for LEPROT Gene

Entrez Gene Summary for LEPROT Gene

  • LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010]

GeneCards Summary for LEPROT Gene

LEPROT (Leptin Receptor Overlapping Transcript) is a Protein Coding gene. Diseases associated with LEPROT include Leptin Receptor Deficiency and Syndromic Obesity. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is LEPROTL1.

UniProtKB/Swiss-Prot Summary for LEPROT Gene

  • Negatively regulates leptin receptor (LEPR) cell surface expression, and thus decreases response to leptin. Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability.

Additional gene information for LEPROT Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LEPROT Gene

Genomics for LEPROT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LEPROT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J065416 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 639.5 +1.3 1258 9.8 HNRNPL GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 IKZF1 KDM1A ZNF692 LEPROT LEPR NONHSAG001731.2 piR-59769-018 PDE4B
GH01J065428 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 605.2 +9.6 9613 4.4 CTCF REST RAD21 ZNF501 TRIM22 BRCA1 CEBPB SP1 JUND CHD2 LEPROT LEPR NONHSAG001731.2 piR-59769-018 PDE4B
GH01J065433 Promoter 0.3 EPDnew 600.4 +12.7 12661 0.1 LEPROT LEPR NONHSAG001731.2 piR-59769-018 PDE4B
GH01J065264 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -155.0 -155042 2.3 HNRNPL CTCF TEAD4 PRDM10 ZNF629 KDM1A ZNF692 PRDM1 ZIC2 ZSCAN4 DNAJC6 RNU2-15P LEPR LEPROT lnc-JAK1-8 COX6CP13
GH01J065467 Enhancer 1.2 Ensembl ENCODE 16.2 +48.7 48714 4.6 GATAD2A ATF7 PRDM10 ZNF629 REST TFE3 ZNF512 SOX13 ZNF692 RCOR2 piR-61240-006 LEPR LEPROT RNU2-15P PDE4B HSALNG0004202
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LEPROT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LEPROT

Top Transcription factor binding sites by QIAGEN in the LEPROT gene promoter:
  • AP-1
  • STAT3

Genomic Locations for LEPROT Gene

Genomic Locations for LEPROT Gene
chr1:65,420,587-65,436,007
(GRCh38/hg38)
Size:
15,421 bases
Orientation:
Plus strand
chr1:65,886,131-65,901,690
(GRCh37/hg19)
Size:
15,560 bases
Orientation:
Plus strand

Genomic View for LEPROT Gene

Genes around LEPROT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LEPROT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LEPROT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LEPROT Gene

Proteins for LEPROT Gene

  • Protein details for LEPROT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15243-OBRG_HUMAN
    Recommended name:
    Leptin receptor gene-related protein
    Protein Accession:
    O15243
    Secondary Accessions:
    • Q6FHL5

    Protein attributes for LEPROT Gene

    Size:
    131 amino acids
    Molecular mass:
    14254 Da
    Quaternary structure:
    • Interacts with LEPR. Interacts with RAB13 (By similarity).

neXtProt entry for LEPROT Gene

Post-translational modifications for LEPROT Gene

No Post-translational modifications

Other Protein References for LEPROT Gene

No data available for DME Specific Peptides for LEPROT Gene

Domains & Families for LEPROT Gene

Gene Families for LEPROT Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for LEPROT Gene

InterPro:
Blocks:
  • Vacuolar protein sorting 55
ProtoNet:

Suggested Antigen Peptide Sequences for LEPROT Gene

GenScript: Design optimal peptide antigens:
  • OB-R gene-related protein (OBRG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15243

UniProtKB/Swiss-Prot:

OBRG_HUMAN :
  • Belongs to the OB-RGRP/VPS55 family.
Family:
  • Belongs to the OB-RGRP/VPS55 family.
genes like me logo Genes that share domains with LEPROT: view

Function for LEPROT Gene

Molecular function for LEPROT Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates leptin receptor (LEPR) cell surface expression, and thus decreases response to leptin. Negatively regulates growth hormone (GH) receptor cell surface expression in liver. May play a role in liver resistance to GH during periods of reduced nutrient availability.

Phenotypes From GWAS Catalog for LEPROT Gene

Gene Ontology (GO) - Molecular Function for LEPROT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IBA,IDA 18042720
GO:0005515 protein binding IPI 18042720
genes like me logo Genes that share ontologies with LEPROT: view
genes like me logo Genes that share phenotypes with LEPROT: view

Animal Models for LEPROT Gene

MGI Knock Outs for LEPROT:
  • Leprot Leprot<tm2a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for LEPROT Gene

miRTarBase miRNAs that target LEPROT

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LEPROT

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LEPROT Gene

Localization for LEPROT Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEPROT Gene

Golgi apparatus membrane. Multi-pass membrane protein. Endosome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LEPROT gene
Compartment Confidence
endosome 5
golgi apparatus 5
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LEPROT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005768 endosome IBA,IDA 18042720
GO:0005794 Golgi apparatus IEA,IDA 18042720
GO:0010008 endosome membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LEPROT: view

Pathways & Interactions for LEPROT Gene

PathCards logo

SuperPathways for LEPROT Gene

No Data Available

Gene Ontology (GO) - Biological Process for LEPROT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032511 late endosome to vacuole transport via multivesicular body sorting pathway IBA 21873635
GO:0046426 negative regulation of JAK-STAT cascade IBA,IDA 18042720
GO:0060400 negative regulation of growth hormone receptor signaling pathway IBA,IDA 19907080
GO:1903955 positive regulation of protein targeting to mitochondrion HMP 24270810
GO:2000009 negative regulation of protein localization to cell surface IBA,IDA 18042720
genes like me logo Genes that share ontologies with LEPROT: view

No data available for Pathways by source and SIGNOR curated interactions for LEPROT Gene

Drugs & Compounds for LEPROT Gene

No Compound Related Data Available

Transcripts for LEPROT Gene

mRNA/cDNA for LEPROT Gene

3 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LEPROT

Alternative Splicing Database (ASD) splice patterns (SP) for LEPROT Gene

No ASD Table

Relevant External Links for LEPROT Gene

GeneLoc Exon Structure for
LEPROT

Expression for LEPROT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LEPROT Gene

Protein differential expression in normal tissues from HIPED for LEPROT Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.6), Pancreas (12.5), and Spinal cord (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LEPROT Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LEPROT

SOURCE GeneReport for Unigene cluster for LEPROT Gene:

Hs.23581

mRNA Expression by UniProt/SwissProt for LEPROT Gene:

O15243-OBRG_HUMAN
Tissue specificity: Expressed at the highest levels in heart and placenta and at a lesser extent in lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for LEPROT Gene

  • Muscle(4.4)
  • Nervous system(3.3)
  • Pancreas(2.9)
  • Lung(2.4)
  • Liver(2.2)
  • Kidney(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with LEPROT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LEPROT Gene

Orthologs for LEPROT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LEPROT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LEPROT 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LEPROT 31
  • 98 (a)
OneToOne
LOC609115 30
  • 93.38 (n)
Cow
(Bos Taurus)
Mammalia LEPROT 30 31
  • 92.62 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Leprot 30
  • 89.06 (n)
Mouse
(Mus musculus)
Mammalia Leprot 30 17 31
  • 89.06 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LEPROT 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LEPROT 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LEPROT 30 31
  • 79.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LEPROT 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia leprot 30
  • 75.83 (n)
Zebrafish
(Danio rerio)
Actinopterygii leprot 30
  • 70 (n)
LEPROT 31
  • 64 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG30423 31
  • 37 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C30B5.2 31
  • 47 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS55 31
  • 24 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
OneToMany
Species where no ortholog for LEPROT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for LEPROT Gene

ENSEMBL:
Gene Tree for LEPROT (if available)
TreeFam:
Gene Tree for LEPROT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LEPROT: view image

Paralogs for LEPROT Gene

Paralogs for LEPROT Gene

(1) SIMAP similar genes for LEPROT Gene using alignment to 1 proteins:

  • OBRG_HUMAN
genes like me logo Genes that share paralogs with LEPROT: view

Variants for LEPROT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LEPROT Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
724943 Likely Benign: not provided 65,421,440(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
873955 Uncertain Significance: Leptin receptor deficiency 65,420,675(+) C/A FIVE_PRIME_UTR_VARIANT
874897 Uncertain Significance: Leptin receptor deficiency 65,425,348(+) T/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs13306523 Conflicting Interpretations: Leptin receptor deficiency; Monogenic Non-Syndromic Obesity; not provided 65,425,307(+) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs189950527 Uncertain Significance: Leptin receptor deficiency; Monogenic Non-Syndromic Obesity 65,420,717(+) C/T FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for LEPROT Gene

Structural Variations from Database of Genomic Variants (DGV) for LEPROT Gene

Variant ID Type Subtype PubMed ID
dgv174n100 CNV gain 25217958
nsv528808 CNV gain 19592680
nsv546438 CNV gain 21841781
nsv830070 CNV gain 17160897
nsv830081 CNV gain 17160897
nsv997944 CNV gain 25217958

Variation tolerance for LEPROT Gene

Residual Variation Intolerance Score: 46.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LEPROT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LEPROT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LEPROT Gene

Disorders for LEPROT Gene

MalaCards: The human disease database

(4) MalaCards diseases for LEPROT Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LEPROT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with LEPROT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LEPROT Gene

Publications for LEPROT Gene

  1. The leptin receptor promoter controls expression of a second distinct protein. (PMID: 9207021) Bailleul B … Strosberg AD (Nucleic acids research 1997) 2 3 4 23
  2. LEPROT and LEPROTL1 cooperatively decrease hepatic growth hormone action in mice. (PMID: 19907080) Touvier T … Bailleul B (The Journal of clinical investigation 2009) 3 4 23
  3. Silencing of OB-RGRP in mouse hypothalamic arcuate nucleus increases leptin receptor signaling and prevents diet-induced obesity. (PMID: 18042720) Couturier C … Jockers R (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 23
  4. Endospanins regulate a postinternalization step of the leptin receptor endocytic pathway. (PMID: 21454707) Séron K … Rouillé Y (The Journal of biological chemistry 2011) 2 3
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41

Products for LEPROT Gene

Sources for LEPROT Gene