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

Gene ID: 54741, updated on 15-Jun-2019

Summary

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
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

Genomic context

See LEPROT in Genome Data Viewer
Location:
1p31.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (65420448..65436007)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65886131..66107242)

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 RNA, U2 small nuclear 15, pseudogene Neighboring gene leptin receptor Neighboring gene polypeptide N-acetylgalactosaminyltransferase 11 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 854, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37482, FLJ90360

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_001198681.1NP_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:16133
    Vps55; Vacuolar protein sorting 55
  2. NM_001198683.2NP_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
    Conserved Domains (1) summary
    pfam04133
    Location:727
    Vps55; Vacuolar protein sorting 55
  3. NM_017526.5NP_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
    Related
    ENSP00000360104.4, ENST00000371065.9
    Conserved Domains (1) summary
    pfam04133
    Location:7124
    Vps55; Vacuolar protein sorting 55

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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