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Aliases for LEPROTL1 Gene

Aliases for LEPROTL1 Gene

  • Leptin Receptor Overlapping Transcript Like 1 2 3 5
  • Endospanin-2 2 3 4
  • Leptin Receptor Overlapping Transcript-Like 1 3
  • HSPC112 3
  • VPS55 3
  • My047 3

External Ids for LEPROTL1 Gene

Previous GeneCards Identifiers for LEPROTL1 Gene

  • GC08P029868
  • GC08P030404
  • GC08P030010
  • GC08P030072
  • GC08P028497

Summaries for LEPROTL1 Gene

GeneCards Summary for LEPROTL1 Gene

LEPROTL1 (Leptin Receptor Overlapping Transcript Like 1) is a Protein Coding gene. An important paralog of this gene is LEPROT.

UniProtKB/Swiss-Prot for LEPROTL1 Gene

  • 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 LEPROTL1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LEPROTL1 Gene

Genomics for LEPROTL1 Gene

GeneHancer (GH) Regulatory Elements for LEPROTL1 Gene

Promoters and enhancers for LEPROTL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I030088 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 595.6 -2.6 -2613 9.2 HDGF PKNOX1 ARNT ARID4B SIN3A IRF4 ZNF766 FOS NFYC REST LEPROTL1 SARAF HSPA8P11 WRN GTF2E2 ENSG00000253708 MBOAT4 GC08M030097
GH08I030097 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 47 +4.6 4614 4.6 PKNOX1 ATF1 MLX ZNF133 ARID4B DMAP1 YY1 RXRA MXD4 REST LEPROTL1 SARAF MBOAT4 GC08M030097 RPS15AP24
GH08I030079 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.2 -13.1 -13074 5 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 SARAF ENSG00000272256 HSPA8P11 LEPROTL1 WRN GTF2E2 RNU6-1218P
GH08I030075 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 40.7 -18.6 -18633 1.6 ZNF362 ZNF529 MAFG CBFA2T3 FEZF1 DPF2 ZNF316 CBX5 SMARCA4 IKZF1 LEPROTL1 SARAF HSPA8P11 PURG MBOAT4 ENSG00000272256 RNU6-1218P
GH08I030112 Enhancer 1.3 Ensembl ENCODE dbSUPER 35.9 +17.9 17879 2.2 FOXA2 FEZF1 KLF7 PAF1 RXRA REST PPARG KAT8 NFIL3 GLIS1 LEPROTL1 WRN SARAF HSPA8P11 RPS15AP24 GC08M030097
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LEPROTL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LEPROTL1 gene promoter:

Genomic Locations for LEPROTL1 Gene

Genomic Locations for LEPROTL1 Gene
81,811 bases
Plus strand

Genomic View for LEPROTL1 Gene

Genes around LEPROTL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LEPROTL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LEPROTL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LEPROTL1 Gene

Proteins for LEPROTL1 Gene

  • Protein details for LEPROTL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Leptin receptor overlapping transcript-like 1
    Protein Accession:
    Secondary Accessions:
    • E9PHP8
    • Q9BW48

    Protein attributes for LEPROTL1 Gene

    131 amino acids
    Molecular mass:
    14428 Da
    Quaternary structure:
    • Interacts with RAB13.

    Alternative splice isoforms for LEPROTL1 Gene


neXtProt entry for LEPROTL1 Gene

Post-translational modifications for LEPROTL1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LEPROTL1 Gene

Domains & Families for LEPROTL1 Gene

Gene Families for LEPROTL1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for LEPROTL1 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the OB-RGRP/VPS55 family.
  • Belongs to the OB-RGRP/VPS55 family.
genes like me logo Genes that share domains with LEPROTL1: view

Function for LEPROTL1 Gene

Molecular function for LEPROTL1 Gene

UniProtKB/Swiss-Prot Function:
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 LEPROTL1 Gene

Gene Ontology (GO) - Molecular Function for LEPROTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with LEPROTL1: view
genes like me logo Genes that share phenotypes with LEPROTL1: view

Animal Models for LEPROTL1 Gene

MGI Knock Outs for LEPROTL1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LEPROTL1 Gene

Localization for LEPROTL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEPROTL1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

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 LEPROTL1 gene
Compartment Confidence
endosome 4
plasma membrane 3
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LEPROTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LEPROTL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LEPROTL1 Gene

Pathways & Interactions for LEPROTL1 Gene

SuperPathways for LEPROTL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LEPROTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032511 late endosome to vacuole transport via multivesicular body sorting pathway IBA --
GO:2000009 negative regulation of protein localization to cell surface IBA --
genes like me logo Genes that share ontologies with LEPROTL1: view

No data available for Pathways by source and SIGNOR curated interactions for LEPROTL1 Gene

Drugs & Compounds for LEPROTL1 Gene

No Compound Related Data Available

Transcripts for LEPROTL1 Gene

Unigene Clusters for LEPROTL1 Gene

Leptin receptor overlapping transcript-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LEPROTL1 Gene

No ASD Table

Relevant External Links for LEPROTL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LEPROTL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LEPROTL1 Gene

Protein differential expression in normal tissues from HIPED for LEPROTL1 Gene

This gene is overexpressed in Plasma (41.4), Retina (7.0), and Spinal cord (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LEPROTL1 Gene

Protein tissue co-expression partners for LEPROTL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of LEPROTL1 Gene:


SOURCE GeneReport for Unigene cluster for LEPROTL1 Gene:


mRNA Expression by UniProt/SwissProt for LEPROTL1 Gene:

Tissue specificity: Widely expressed, with highest expression in heart, testis, adrenal gland, thymus, and spleen, and lowest expression in lung and skeletal muscle.

Evidence on tissue expression from TISSUES for LEPROTL1 Gene

  • Nervous system(4.8)
  • Eye(4.3)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with LEPROTL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for LEPROTL1 Gene

Orthologs for LEPROTL1 Gene

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

Orthologs for LEPROTL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LEPROTL1 33 34
  • 99.75 (n)
(Canis familiaris)
Mammalia LEPROTL1 33 34
  • 95.93 (n)
(Bos Taurus)
Mammalia LEPROTL1 33 34
  • 91.6 (n)
(Mus musculus)
Mammalia Leprotl1 33 16 34
  • 89.06 (n)
(Rattus norvegicus)
Mammalia Leprotl1 33
  • 87.53 (n)
(Monodelphis domestica)
Mammalia LEPROTL1 34
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia LEPROTL1 34
  • 52 (a)
(Gallus gallus)
Aves LEPROTL1 33 34
  • 84.73 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486533 33
  • 79.39 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28972 33
(Danio rerio)
Actinopterygii zgc:92045 33
  • 71.25 (n)
  • 62 (a)
wufb95c07 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008693 33
  • 53.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30423 34
  • 36 (a)
(Caenorhabditis elegans)
Secernentea C30B5.2 33 34
  • 54.33 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS55 34 36
  • 25 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
Species where no ortholog for LEPROTL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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 LEPROTL1 Gene

Gene Tree for LEPROTL1 (if available)
Gene Tree for LEPROTL1 (if available)

Paralogs for LEPROTL1 Gene

Variants for LEPROTL1 Gene

Sequence variations from dbSNP and Humsavar for LEPROTL1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000003412 -- 30,109,580(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000101371 -- 30,116,125(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000124927 -- 30,094,660(+) A/G upstream_transcript_variant
rs1000161778 -- 30,127,613(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000219253 -- 30,094,900(+) G/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LEPROTL1 Gene

Variant ID Type Subtype PubMed ID
nsv6138 CNV insertion 18451855
nsv831277 CNV gain 17160897
nsv971634 CNV duplication 23825009

Variation tolerance for LEPROTL1 Gene

Residual Variation Intolerance Score: 42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LEPROTL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LEPROTL1 Gene

Disorders for LEPROTL1 Gene

Additional Disease Information for LEPROTL1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for LEPROTL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LEPROTL1 Gene

Publications for LEPROTL1 Gene

  1. Cloning and characterization of a novel human leptin receptor overlapping transcript-like 1 gene (LEPROTL1). (PMID: 11342119) Huang Y … Mao Y (Biochimica et biophysica acta 2001) 2 3 4 22 58
  2. Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study. (PMID: 19876004) Corpeleijn E … Blaak EE (Obesity (Silver Spring, Md.) 2010) 3 44 58
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 44 58
  4. 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 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for LEPROTL1 Gene

Sources for LEPROTL1 Gene

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