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 4
  • Vps55 2 3
  • My047 2 3
  • LEPROTL1 5
  • HSPC112 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. Diseases associated with LEPROTL1 include Rectum Adenocarcinoma. An important paralog of this gene is LEPROT.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for LEPROTL1 Gene

Genomics for LEPROTL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LEPROTL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LEPROTL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LEPROTL1

Top Transcription factor binding sites by QIAGEN in the LEPROTL1 gene promoter:
  • aMEF-2
  • CUTL1
  • E47
  • ITF-2
  • MEF-2
  • MEF-2A
  • RP58
  • Tal-1
  • Tal-1beta
  • XBP-1

Genomic Locations for LEPROTL1 Gene

Genomic Locations for LEPROTL1 Gene
chr8:30,095,408-30,177,208
(GRCh38/hg38)
Size:
81,801 bases
Orientation:
Plus strand
chr8:29,952,914-30,034,724
(GRCh37/hg19)
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

Gene Families for LEPROTL1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for LEPROTL1 Gene

InterPro:
Blocks:
  • Vacuolar protein sorting 55
ProtoNet:

Suggested Antigen Peptide Sequences for LEPROTL1 Gene

GenScript: Design optimal peptide antigens:
  • Leptin receptor overlapping transcript-like 1 (LERL1_HUMAN)
  • cDNA PSEC0049 fis, clone NT2RP2000116, highly similar to Leptin receptor overlapping transcript-like 1 (Q6FHL7_HUMAN)

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

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

  • Taconic Biosciences Mouse Models for LEPROTL1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LEPROTL1

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
plasma membrane 3
endosome 3
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for LEPROTL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IBA 21873635
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

PathCards logo

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 21873635
GO:2000009 negative regulation of protein localization to cell surface IBA 21873635
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

mRNA/cDNA for LEPROTL1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 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 LEPROTL1

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

No ASD Table

Relevant External Links for LEPROTL1 Gene

GeneLoc Exon Structure for
LEPROTL1

Expression for LEPROTL1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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, MaxQB, and MOPED for LEPROTL1 Gene



Protein tissue co-expression partners for LEPROTL1 Gene

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

Evidence on tissue expression from TISSUES for LEPROTL1 Gene

  • Nervous system(4.9)
  • Eye(4.3)
  • Lymph node(2.5)
  • Intestine(2.5)
  • Liver(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with LEPROTL1: view

No data available for 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
Chimpanzee
(Pan troglodytes)
Mammalia LEPROTL1 30 31
  • 99.75 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LEPROTL1 30 31
  • 95.93 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LEPROTL1 30 31
  • 91.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Leprotl1 30 17 31
  • 89.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Leprotl1 30
  • 87.53 (n)
Oppossum
(Monodelphis domestica)
Mammalia LEPROTL1 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LEPROTL1 31
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LEPROTL1 30 31
  • 84.73 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486533 30
  • 79.39 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.28972 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:92045 30
  • 71.25 (n)
LEPROTL1 31
  • 62 (a)
OneToOne
wufb95c07 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008693 30
  • 53.17 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG30423 31
  • 36 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C30B5.2 30 31
  • 54.33 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS55 31 33
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
Species where no ortholog for LEPROTL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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 LEPROTL1 Gene

ENSEMBL:
Gene Tree for LEPROTL1 (if available)
TreeFam:
Gene Tree for LEPROTL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LEPROTL1: view image

Paralogs for LEPROTL1 Gene

Paralogs for LEPROTL1 Gene

(47) SIMAP similar genes for LEPROTL1 Gene using alignment to 8 proteins:

  • LERL1_HUMAN
  • C9JVM4_HUMAN
  • E5RHU8_HUMAN
  • E5RIL0_HUMAN
  • E5RIQ0_HUMAN
  • E5RJS9_HUMAN
  • H0YBC1_HUMAN
  • Q6FHL7_HUMAN
genes like me logo Genes that share paralogs with LEPROTL1: view

Variants for LEPROTL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LEPROTL1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
709877 Benign: not provided 30,131,945(+) A/G STOP_LOST,INTRON_VARIANT
734148 Benign: not provided 30,132,685(+) C/T MISSENSE_VARIANT,INTRON_VARIANT
742348 Likely Benign: not provided 30,132,423(+) A/T SYNONYMOUS_VARIANT,INTRON_VARIANT
784126 Benign: not provided 30,132,393(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for LEPROTL1 Gene

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
LEPROTL1

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

Disorders for LEPROTL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LEPROTL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
rectum adenocarcinoma
  • rectal adenocarcinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LEPROTL1

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 LEPROTL1: view

No data available for 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 23
  2. 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 41
  3. 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 41
  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
  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

Products for LEPROTL1 Gene

Sources for LEPROTL1 Gene