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The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
LRAT (Lecithin Retinol Acyltransferase) is a Protein Coding gene. Diseases associated with LRAT include Leber Congenital Amaurosis 14 and Severe Early-Childhood-Onset Retinal Dystrophy. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and retinol binding. An important paralog of this gene is LRATD2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001972 | retinoic acid binding | IEA | -- |
GO:0008374 | O-acyltransferase activity | IEA | -- |
GO:0016416 | O-palmitoyltransferase activity | TAS | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016746 | transferase activity, transferring acyl groups | TAS | 9920938 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005771 | multivesicular body | ISS | -- |
GO:0005783 | endoplasmic reticulum | IEA,ISS | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of fat-soluble vitamins | ||
2 | the visual cycle I (vertebrates) | ||
3 | Drug metabolism - cytochrome P450 |
Retinol metabolism
.31
|
|
4 | Phototransduction | ||
5 | Vitamin digestion and absorption |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001523 | retinoid metabolic process | TAS | -- |
GO:0006776 | vitamin A metabolic process | IEA,ISS | -- |
GO:0007601 | visual perception | IEA | -- |
GO:0009617 | response to bacterium | IEA | -- |
GO:0032370 | positive regulation of lipid transport | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Retinyl ester |
|
|||||
retinyl palmitate |
|
79-81-2 | ||||
11-cis-Retinyl palmitate |
|
51249-33-3 |
|
|||
1-Hexanol |
|
111-27-3 |
|
|||
1-Pentanol |
|
71-41-0 |
|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||
SP2: | - | ||||||||||||||||||||
SP3: | |||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LRAT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LRAT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LRAT 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LRAT 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LRAT 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lrat 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lrat 30 |
|
||
Chicken (Gallus gallus) |
Aves | LRAT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LRAT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lrat 30 |
|
||
MGC75880 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | lratb 30 |
|
||
LRAT 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636179 | Likely Pathogenic: Retinitis pigmentosa | 154,744,588(+) | A/ACG | FRAMESHIFT_VARIANT | |
667379 | Likely Pathogenic: Leber congenital amaurosis | 154,744,366(+) | G/T | NONSENSE | |
707021 | Likely Benign: not provided | 154,749,054(+) | C/T | MISSENSE_VARIANT | |
772188 | Benign: not provided | 154,749,070(+) | G/A | SYNONYMOUS_VARIANT | |
798159 | Benign: not provided | 154,744,334(+) | A/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
leber congenital amaurosis 14 |
|
|
severe early-childhood-onset retinal dystrophy |
|
|
fundus dystrophy |
|
|
leber plus disease |
|
|
retinitis pigmentosa |
|