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Aliases for LEPROTL1 Gene

Aliases for LEPROTL1 Gene

  • Leptin Receptor Overlapping Transcript-Like 1 2 3 5
  • Endospanin-2 3 4
  • 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.

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

Genomics for LEPROTL1 Gene

Regulatory Elements for LEPROTL1 Gene

Enhancers for LEPROTL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F030087 1.7 FANTOM5 Ensembl ENCODE 45.6 -2.8 -2800 9.6 HDGF PKNOX1 ARID4B SIN3A YY1 FOS NFYC REST TBX21 MEF2D LEPROTL1 SARAF MBOAT4
GH08F030097 1.4 FANTOM5 ENCODE 47 +4.6 4614 4.6 PKNOX1 ATF1 CREB3L1 MLX ZNF133 ARID4B DMAP1 YY1 FOS SP5 LEPROTL1 SARAF MBOAT4 GC08M030097 RPS15AP24
GH08F030075 1.3 FANTOM5 Ensembl ENCODE 40.6 -18.8 -18798 2.4 FEZF1 ZNF316 CBX5 GATA2 NFE2 MAFK ZNF362 MAFG DPF2 ARID1B LEPROTL1 SARAF RNU6-1218P MBOAT4 ENSG00000272256
GH08F030112 1.2 Ensembl ENCODE 35.8 +17.9 17879 2.2 FEZF1 KLF7 FOS PAF1 PPARG TBX21 KAT8 GLIS1 ETV4 RCOR2 LEPROTL1 SARAF HSPA8P11 RPS15AP24 GC08M030097
GH08F030136 1.2 Ensembl ENCODE 30.1 +41.8 41830 1.7 TBP ATF1 PTRF SIN3A RAD21 SCRT2 ZNF548 FOS CREM KLF13 LEPROTL1 WRN SARAF HSPA8P11 RPS15AP24 ENSG00000271869
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LEPROTL1 on UCSC Golden Path with GeneCards custom track

Promoters for LEPROTL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001389102 1402 4001 HDGF PKNOX1 ARID4B SIN3A FOS REST MEF2D SMARCA4 GLIS1 NBN

Genomic Location for LEPROTL1 Gene

Chromosome:
8
Start:
30,095,398 bp from pter
End:
30,177,208 bp from pter
Size:
81,811 bases
Orientation:
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:
    O95214-LERL1_HUMAN
    Recommended name:
    Leptin receptor overlapping transcript-like 1
    Protein Accession:
    O95214
    Secondary Accessions:
    • E9PHP8
    • Q9BW48

    Protein attributes for LEPROTL1 Gene

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

    Alternative splice isoforms for LEPROTL1 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for LEPROTL1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O95214

UniProtKB/Swiss-Prot:

LERL1_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 LEPROTL1: view

No data available for Gene Families for LEPROTL1 Gene

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.

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

  • Taconic Biosciences Mouse Models for LEPROTL1

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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 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

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

Transcripts for LEPROTL1 Gene

Unigene Clusters for LEPROTL1 Gene

Leptin receptor overlapping transcript-like 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for LEPROTL1 Gene

GeneLoc Exon Structure for
LEPROTL1
ECgene alternative splicing isoforms for
LEPROTL1

Expression for LEPROTL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

LEPROTL1

SOURCE GeneReport for Unigene cluster for LEPROTL1 Gene:

Hs.146585

mRNA Expression by UniProt/SwissProt for LEPROTL1 Gene:

O95214-LERL1_HUMAN
Tissue specificity: Widely expressed, with highest expression in heart, testis, adrenal gland, thymus, and spleen, and lowest expression in lung and skeletal muscle.
genes like me logo Genes that share expression patterns with LEPROTL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia LEPROTL1 34 35
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia LEPROTL1 34 35
  • 95.93 (n)
cow
(Bos Taurus)
Mammalia LEPROTL1 34 35
  • 91.6 (n)
mouse
(Mus musculus)
Mammalia Leprotl1 34 16 35
  • 89.06 (n)
rat
(Rattus norvegicus)
Mammalia Leprotl1 34
  • 87.53 (n)
oppossum
(Monodelphis domestica)
Mammalia LEPROTL1 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LEPROTL1 35
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves LEPROTL1 34 35
  • 84.73 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486533 34
  • 79.39 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28972 34
zebrafish
(Danio rerio)
Actinopterygii zgc:92045 34
  • 71.25 (n)
LEPROTL1 35
  • 62 (a)
OneToOne
wufb95c07 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008693 34
  • 53.17 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30423 35
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C30B5.2 34 35
  • 54.33 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS55 35 37
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToMany
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

ENSEMBL:
Gene Tree for LEPROTL1 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs10089684 -- 30,114,824(+) tgtcc(A/G)tcttt intron-variant
rs10564134 -- 30,097,334(+) ACTGG(-/AAGAT)GAGAT intron-variant
rs10684450 -- 30,112,420(+) TTTTT(-/TTTTTTTTTTTTT)GGATT intron-variant
rs10954872 -- 30,121,096(+) AAGCT(A/G)TATAT intron-variant
rs111291674 -- 30,095,386(+) GAGTC(C/G)CCGGC upstream-variant-2KB

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)

Relevant External Links for LEPROTL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LEPROTL1

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

Disorders for LEPROTL1 Gene

Relevant External Links for LEPROTL1

Genetic Association Database (GAD)
LEPROTL1
Human Genome Epidemiology (HuGE) Navigator
LEPROTL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LEPROTL1

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.M. (Biochim. Biophys. Acta 2001) 2 3 4 22 64
  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 E.E. (Obesity (Silver Spring) 2010) 3 46 64
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64
  4. LEPROT and LEPROTL1 cooperatively decrease hepatic growth hormone action in mice. (PMID: 19907080) Touvier T. … Bailleul B. (J. Clin. Invest. 2009) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for LEPROTL1 Gene

Sources for LEPROTL1 Gene

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