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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]
LEPROT (Leptin Receptor Overlapping Transcript) is a Protein Coding gene. Diseases associated with LEPROT include Leptin Receptor Deficiency and Syndromic Obesity. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is LEPROTL1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IBA,IDA | 18042720 |
GO:0005515 | protein binding | IPI | 18042720 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005768 | endosome | IBA,IDA | 18042720 |
GO:0005794 | Golgi apparatus | IEA,IDA | 18042720 |
GO:0010008 | endosome membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032511 | late endosome to vacuole transport via multivesicular body sorting pathway | IBA | 21873635 |
GO:0046426 | negative regulation of JAK-STAT cascade | IBA,IDA | 18042720 |
GO:0060400 | negative regulation of growth hormone receptor signaling pathway | IBA,IDA | 19907080 |
GO:1903955 | positive regulation of protein targeting to mitochondrion | HMP | 24270810 |
GO:2000009 | negative regulation of protein localization to cell surface | IBA,IDA | 18042720 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LEPROT 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LEPROT 31 |
|
OneToOne | |
LOC609115 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | LEPROT 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Leprot 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Leprot 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LEPROT 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LEPROT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LEPROT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LEPROT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | leprot 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | leprot 30 |
|
||
LEPROT 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG30423 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | C30B5.2 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VPS55 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
724943 | Likely Benign: not provided | 65,421,440(+) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
873955 | Uncertain Significance: Leptin receptor deficiency | 65,420,675(+) | C/A | FIVE_PRIME_UTR_VARIANT | |
874897 | Uncertain Significance: Leptin receptor deficiency | 65,425,348(+) | T/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs13306523 | Conflicting Interpretations: Leptin receptor deficiency; Monogenic Non-Syndromic Obesity; not provided | 65,425,307(+) | C/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs189950527 | Uncertain Significance: Leptin receptor deficiency; Monogenic Non-Syndromic Obesity | 65,420,717(+) | C/T | FIVE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
leptin receptor deficiency |
|
|
syndromic obesity |
|
|
leptin deficiency or dysfunction |
|
|
body mass index quantitative trait locus 11 |
|