LRAT - lecithin retinol acyltransferase Gene

Also Known as LCA14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9227

About LRAT

Cytogenetic location: 4q32.1 Genomic coordinates (GRCh38): 4:154,740,838-154,753,120 (from NCBI)

This gene has 8 transcripts (splice variants), 194 orthologues, 7 paralogues and is associated with 7 phenotypes. Biased expression in duodenum (RPKM 4.0), small intestine (RPKM 3.3) and 6 other tissues.

Summary

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 Products (2)

mRNA	Protein	Name
NM_001301645.2	NP_001288574.1	lecithin retinol acyltransferase precursor
NM_004744.5	NP_004735.2	lecithin retinol acyltransferase precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables phosphatidylcholine-retinol O-acyltransferase activity	IDA IDA: Inferred from direct assay	10819989	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in retinol metabolic process	IDA IDA: Inferred from direct assay	10819989	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRAT Protein Structure

LRAT

0
100
200
230 a.a.

Protein Preferred Names	Protein Names
lecithin retinol acyltransferase	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)

LRAT Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LRAT	O95237	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Prey Pooling	32296183
Intra	LRAT	O95237	HSD17B13	Homo sapiens	Q7Z5P4	Validated Y2H	32296183
Intra	LRAT	O95237	HSD17B13	Homo sapiens	Q7Z5P4	Y2H Array	32296183
Intra	LRAT	O95237	NME2P1	Homo sapiens	O60361	Anti Tag CoIP	28514442
Intra	LRAT	O95237	NME2P1	Homo sapiens	O60361	Anti Tag CoIP	33961781
Intra	LRAT	O95237	BLCAP	Homo sapiens	P62952	Validated Y2H	32296183
Intra	LRAT	O95237	BLCAP	Homo sapiens	P62952	Y2H Prey Pooling	32296183
Intra	LRAT	O95237	BLCAP	Homo sapiens	P62952	Y2H Array	32296183
Intra	LRAT	O95237	TMX2	Homo sapiens	Q9Y320	Validated Y2H	32296183
Intra	LRAT	O95237	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
Intra	LRAT	O95237	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Leber Congenital Amaurosis 14	LCA14 Retinitis Pigmentosa, Juvenile, Lrat-Related Retinal Dystrophy, Early-Onset Severe Retinitis Pigmentosa, Juvenile Retinitis Pigmentosa Juvenile Lrat-Related Severe Early-Onset Retinal Dystrophy Lrat-Related Retinal Dystrophy, Early-Onset Severe, Lrat-Related Leber Congenital Amaurosis, Type 14
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Severe Early-Childhood-Onset Retinal Dystrophy	Eosrd Early-Onset Severe Retinal Dystrophy Secord Retinal Dystrophy, Early Onset Severe
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Leber Congenital Amaurosis 1	LCA1 Amaurosis Congenita Of Leber I Lca Retinal Blindness, Congenital Crb Leber Congenital Amaurosis Type I Leber Congenital Amaurosis, Type 1 Amaurosis Congenita Of Leber, Type 1
Leber Congenital Amaurosis 2	LCA2 Amaurosis Congenita Of Leber Ii Amaurosis Congenita Of Leber, Type 2 Leber Congenital Amaurosis Type Ii Leber Congenital Amaurosis, Type 2 Leber Congenital Amaurosis, Type Ii
Microphthalmia, Syndromic 9	Matthew-Wood Syndrome Spear Syndrome Anophthalmia/Microphthalmia And Pulmonary Hypoplasia Microphthalmia, Isolated, With Coloboma 8 MCOPS9 Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Pdac Pulmonary Agenesis, Microphthalmia, And Diaphragmatic Defect Pmd Syndromic Microphthalmia 9 Anophthalmia-Pulmonary Hypoplasia Syndrome Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart And Diaphragm Malformations Pulmonary Agenesis Microphthalmi And Diaphragmatic Defect Microphthalmia Syndromic 9 Matthew Wood Syndrome Pdac Syndrome Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome Microphthalmia, Isolated, With Coloboma, 8 MCOPCB8 Isolated Colobomatous Microphthalmia 8 Microphthalmia, Syndromic, 9 Anophthalmia With Pulmonary Hypoplasia Microphthalmia Syndromic, Type 9 Anophthalmia And Pulmonary Hypoplasia
Bothnia Retinal Dystrophy	Vasterbotten Dystrophy BRD Dystrophy, Retinal, Bothnia
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Night Blindness	Nyctalopia
Newfoundland Rod-Cone Dystrophy	Newfoundland Cone-Rod Dystrophy NFRCD Rod-Cone Dystrophy Newfoundland
Keratomalacia	Vitamin A Deficiency Night Blindness Retinol Deficiency Xerotic Keratitis VAD Vitamin A Hypovitaminosis A Bitot Spots Bitot Spots In The Young Child Conjunctival Xerosis With Bitot'S Spots Vitamin A Deficiency With Cornea Xerosis Vitamin A Deficiency With Cornea Ulceration Or Xerosis
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Leber Congenital Amaurosis 6	LCA6 Leber Congenital Amaurosis, Type 6
Leber Congenital Amaurosis 8	LCA8 Leber Congenital Amaurosis, Type 8
Hypervitaminosis A	Hypervitaminosis A, Susceptibility To Hyperalimentation Of Vitamin A
Leber Congenital Amaurosis 9	LCA9 Leber Congenital Amaurosis, Type 9
Leber Congenital Amaurosis 13	LCA13 Retinitis Pigmentosa 53 RP53 Leber Congenital Amaurosis, Type 13
Retinal Degeneration	Degeneration Of Retina
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Microcephaly And Chorioretinopathy 2
Syndromic Microphthalmia	Microphthalmia, Syndromic
Alzheimer'S Disease 1	Alzheimer Disease Type 1 Alzheimer'S Disease 1, Early Onset
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Eye Degenerative Disease
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07776	LRAT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-169085	LRAT-IN-1	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	LRAT	VGNC	VGNC:107049
Bos taurus	LRAT	VGNC	VGNC:49555
Mus musculus	LRAT	MGD	MGI:1891259
Rattus norvegicus	LRAT	RGD	RGD:68362
Felis catus	LRAT	VGNC	VGNC:68085
Canis familiaris	LRAT	VGNC	VGNC:49606