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    LEPROTL1 leptin receptor overlapping transcript like 1 [ Homo sapiens (human) ]

    Gene ID: 23484, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LEPROTL1provided by HGNC
    Official Full Name
    leptin receptor overlapping transcript like 1provided by HGNC
    Primary source
    HGNC:HGNC:6555
    See related
    Ensembl:ENSG00000104660 MIM:607338; AllianceGenome:HGNC:6555
    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
    Vps55; my047; HSPC112
    Summary
    Enables identical protein binding activity. Predicted to be involved in late endosome to vacuole transport via multivesicular body sorting pathway and negative regulation of growth hormone receptor signaling pathway. Predicted to be located in membrane. Predicted to be active in endosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in placenta (RPKM 29.1), lymph node (RPKM 17.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LEPROTL1 in Genome Data Viewer
    Location:
    8p12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (30095408..30138348)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (30374316..30417266)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (29952924..29995864)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1218, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:29914456-29915655 Neighboring gene store-operated calcium entry associated regulatory factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19075 Neighboring gene ribosomal protein S15a pseudogene 24 Neighboring gene membrane bound O-acyltransferase domain containing 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30013010-30013992 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19076 Neighboring gene uncharacterized LOC124901927 Neighboring gene DCTN6 divergent transcript Neighboring gene dynactin subunit 6

    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 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. Promoter Mutation Analysis of LEPROTL1 Gene in Acute Leukemias and Solid Tumors. Mo HY, et al. Acta Haematol, 2019. PMID 30943467
    2. Cloning and characterization of a novel human leptin receptor overlapping transcript-like 1 gene (LEPROTL1). Huang Y, et al. Biochim Biophys Acta, 2001 Jan 26. PMID 11342119
    3. Endospanin-2 enhances skeletal muscle energy metabolism and running endurance capacity. Lancel S, et al. JCI Insight, 2018 May 3. PMID 29720572, 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. Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study. Corpeleijn E, et al. Obesity (Silver Spring), 2010 Jul. PMID 19876004

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. these results identify endospanin-2 as a potentially novel player in skeletal muscle metabolism, plasticity, and function.
      Title: Endospanin-2 enhances skeletal muscle energy metabolism and running endurance capacity.
    2. Promoter Mutation Analysis of LEPROTL1 Gene in Acute Leukemias and Solid Tumors.
      Title: Promoter Mutation Analysis of LEPROTL1 Gene in Acute Leukemias and Solid Tumors.
    3. 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.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
    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

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    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

    Potential readthrough

    Included gene: DCTN6

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    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
    		  
    Component Evidence Code Pubs
    is_active_in endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leptin receptor overlapping transcript-like 1
    Names
    endospanin-2

    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_001128208.2 → NP_001121680.1  leptin receptor overlapping transcript-like 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and UTR, compared to variant 1, resulting in a protein (isoform 2) with a distinct and longer C-terminus, compared to isoform 1.
      Source sequence(s)
      AC026979, AC044849, DA258969
      Consensus CDS
      CCDS47834.1
      UniProtKB/Swiss-Prot
      O95214
      Related
      ENSP00000428281.1, ENST00000523116.5
      Conserved Domains (1) summary
      pfam04133
      Location:7 → 93
      Vps55; Vacuolar protein sorting 55

    2. NM_015344.3 → NP_056159.2  leptin receptor overlapping transcript-like 1 isoform 1

      See identical proteins and their annotated locations for NP_056159.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (1).
      Source sequence(s)
      AC044849
      Consensus CDS
      CCDS6075.1
      UniProtKB/Swiss-Prot
      E9PHP8, O95214, Q9BW48
      UniProtKB/TrEMBL
      E5RJS9, Q6FHL7
      Related
      ENSP00000314625.8, ENST00000321250.13
      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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      30095408..30138348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      30374316..30417266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95214.2 GenPept UniProtKB/Swiss-Prot:O95214

    Gene LinkOut

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