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LEPROT leptin receptor overlapping transcript [ Homo sapiens (human) ]

Gene ID: 54741, updated on 7-Sep-2023

Summary

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Official Symbol
LEPROTprovided by HGNC
Official Full Name
leptin receptor overlapping transcriptprovided by HGNC
Primary source
HGNC:HGNC:29477
See related
Ensembl:ENSG00000213625 MIM:613461; AllianceGenome:HGNC:29477
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LEPR; VPS55; OBRGRP; OB-RGRP
Summary
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]
Expression
Ubiquitous expression in fat (RPKM 33.5), kidney (RPKM 30.3) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See LEPROT in Genome Data Viewer
Location:
1p31.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (65420668..65436007)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (65298645..65313980)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65886351..65901690)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C6 Neighboring gene uncharacterized LOC112268227 Neighboring gene Sharpr-MPRA regulatory region 12103 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:65885665-65886197 and GRCh37_chr1:65886198-65886731 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:65885665-65886197 and GRCh37_chr1:65886198-65886731 Neighboring gene RNA, U2 small nuclear 15, pseudogene Neighboring gene Sharpr-MPRA regulatory region 13002 Neighboring gene leptin receptor Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:65933067-65933623 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66019858-66020504 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66029333-66029958 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66029959-66030582 Neighboring gene small nucleolar RNA U13 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 11 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus. Jeon JP, et al. BMC Genomics, 2010 Jul 12. PMID 20624279, Free PMC Article
  2. Endospanins regulate a postinternalization step of the leptin receptor endocytic pathway. Séron K, et al. J Biol Chem, 2011 May 20. PMID 21454707, Free PMC Article
  3. Silencing of OB-RGRP in mouse hypothalamic arcuate nucleus increases leptin receptor signaling and prevents diet-induced obesity. Couturier C, et al. Proc Natl Acad Sci U S A, 2007 Dec 4. PMID 18042720, Free PMC Article
  4. LEPROT and LEPROTL1 cooperatively decrease hepatic growth hormone action in mice. Touvier T, et al. J Clin Invest, 2009 Dec. PMID 19907080, Free PMC Article
  5. The leptin receptor promoter controls expression of a second distinct protein. Bailleul B, et al. Nucleic Acids Res, 1997 Jul 15. PMID 9207021, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus.
  3. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
  4. Transgenic mice expressing either human LEPROT or human LEPROTL1 displayed growth retardation, reduced plasma IGF1 levels, and impaired hepatic sensitivity to GH, as measured by STAT5 phosphorylation and Socs2 mRNA expression.
    Title: LEPROT and LEPROTL1 cooperatively decrease hepatic growth hormone action in mice.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37482, FLJ90360

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in late endosome to vacuole transport via multivesicular body sorting pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in negative regulation of growth hormone receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in negative regulation of growth hormone receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of protein localization to cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of receptor signaling pathway via JAK-STAT IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein targeting to mitochondrion HMP PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endosome membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
leptin receptor gene-related protein
Names
DnaJ (Hsp40) homolog, subfamily C, member 6
OB-R gene-related protein
endospanin
endospanin-1
leptin receptor overlapping transcript protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001198681.2 → NP_001185610.1  leptin receptor gene-related protein isoform 2

    See identical proteins and their annotated locations for NP_001185610.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an additional exon in the 5' region, as compared to variant 1. The resulting isoform (2) has a longer and distinct N-terminus, as compared to isoform 1.
    Source sequence(s)
    AC119800, AK309370
    Consensus CDS
    CCDS72801.1
    UniProtKB/TrEMBL
    A0A087X0N2
    Related
    ENSP00000483521.1, ENST00000613538.1
    Conserved Domains (1) summary
    pfam04133
    Location:16 → 133
    Vps55; Vacuolar protein sorting 55

  2. NM_001198683.2 → NP_001185612.1  leptin receptor gene-related protein isoform 3

    See identical proteins and their annotated locations for NP_001185612.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate 3' sequence, as compared to variant 1. The resulting isoform (3) is much shorter and has a distinct C-terminus, as compared to isoform 1.
    Source sequence(s)
    AK074841, BC140007
    UniProtKB/Swiss-Prot
    O15243
    Related
    ENST00000497874.5
    Conserved Domains (1) summary
    pfam04133
    Location:7 → 27
    Vps55; Vacuolar protein sorting 55

  3. NM_017526.5 → NP_059996.1  leptin receptor gene-related protein isoform 1

    See identical proteins and their annotated locations for NP_059996.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) is dominant and encodes the shorter isoform (1).
    Source sequence(s)
    AC119800, CA434795, Y12670
    Consensus CDS
    CCDS630.1
    UniProtKB/Swiss-Prot
    O15243, Q6FHL5
    UniProtKB/TrEMBL
    A0A3B3ISI8
    Related
    ENSP00000360104.4, ENST00000371065.9
    Conserved Domains (1) summary
    pfam04133
    Location:7 → 124
    Vps55; Vacuolar protein sorting 55

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    65420668..65436007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    65298645..65313980
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15243.1 GenPept UniProtKB/Swiss-Prot:O15243

Gene LinkOut

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