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

    Gene ID: 54741, updated on 10-Dec-2024

    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (65420668..65436007)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (65298645..65313980)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 1144 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

    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. Whole-body deletion of Endospanin 1 protects from obesity-associated deleterious metabolic alterations. Roca-Rivada A, et al. JCI Insight, 2024 Apr 2. PMID 38716728, Free PMC Article
    3. 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
    4. 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
    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 (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Whole-body deletion of Endospanin 1 protects from obesity-associated deleterious metabolic alterations.
      Title: Whole-body deletion of Endospanin 1 protects from obesity-associated deleterious metabolic alterations.
    2. 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.
    3. 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.
    4. 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.
    5. 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)

    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
    		  
    involved_in negative regulation of growth hormone receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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