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

Gene ID: 23484, updated on 28-Oct-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, Oct 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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