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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LRAT Gene

protein-coding GIFtS: 62
GCID: GC04P155549

lecithin retinol acyltransferase (phosphatidylcholine--retinol...

Explore 29 diseases affiliated with
LRAT via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Lecithin Retinol Acyltransferase (Phosphatidylcholine--Retinol O-Acyltransferase)¹ ²
EC 2.3.1.135³ ⁸
LCA14² ⁵
Lecithin Retinol Acyltransferase²
Phosphatidylcholine--Retinol O-Acyltransferase³

External Ids:	HGNC: 6685¹	Entrez Gene: 9227²	Ensembl: ENSG00000121207⁷	OMIM: 604863⁵	UniProtKB: O95237³

ORGUL members:
	NONCODE:n384534

Export aliases for LRAT gene to outside databases

Previous GC identifers: GC04P156514 GC04P156050 GC04P156239 GC04P156019 GC04P155881 GC04P155665 GC04P151405

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LRAT:

The protein encoded by this gene is a microsomal enzyme that catalyzes the esterification of all-trans-retinol into

all-trans-retinyl ester, an essential reaction for the retinoid cycle in visual system and vitamin A status in liver.

Mutations in this gene have been associated with early-onset severe retinal dystrophy. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237

Function: Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing

all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It

provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into

11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol

is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments

Gene Wiki entry for LRAT (Lecithin retinol acyltransferase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LRAT gene promoter:
TBP Sox5 Lmo2 Nkx2-5 FOXL1 MEF-2A Pax-3 HFH-1 aMEF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LRAT promoter sequence

Search SABiosciences Chromatin IP Primers for LRAT

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LRAT

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q32.1 Ensembl cytogenetic band: 4q31.3 HGNC cytogenetic band: 4q32.1

LRAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LRAT gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P155549: view genomic region (about GC identifiers)

Start:	155,548,097 bp from pter	End:	155,674,270 bp from pter
Size:	126,174 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237 (See protein sequence)

Recommended Name: Lecithin retinol acyltransferase

Size: 230 amino acids; 25703 Da

Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity). Rough endoplasmic

reticulum (By similarity). Endosome, multivesicular body (By similarity). Cytoplasm, perinuclear region (By

similarity). Note=Present in the rough endoplasmic reticulum and multivesicular body in hepatic stellate cells.

Present in the rough endoplasmic reticulum and perinuclear region in endothelial cells (By similarity)

Secondary accessions: A8K983 Q8N716

Explore the universe of human proteins at neXtProt for LRAT: NX_O95237

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O95237

3 DME Specific Peptides for LRAT (O95237)

HYGIYLG

ILVNHLD

VASIRVDTVEDFAYGA

LRAT Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004735.2

ENSEMBL proteins:

ENSP00000422324 ENSP00000426761 ENSP00000337224

Reactome Protein details: O95237
Human Recombinant Protein Products for LRAT:

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	Uscn Proteins for LRAT

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005771	multivesicular body	ISS	--
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005791	rough endoplasmic reticulum	ISS	--
GO:0005792	microsome	--	--
GO:0016021	integral to membrane	IEA	--

LRAT for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for LRAT

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LRAT for domains About GeneDecksing

1 InterPro domain/family:

IPR007053 LRAT-like_dom

Graphical View of Domain Structure for InterPro Entry O95237

ProtoNet protein and cluster: O95237

1 Blocks protein family: IPB007053 NC

UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237

Similarity: Belongs to the H-rev107 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: LRAT_HUMAN, O95237

Function: Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing

all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It

provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into

11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol

is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments

Catalytic activity: Phosphatidylcholine + retinol--[cellular-retinol-binding-protein] = 2-acylglycerophosphocholine +

retinyl-ester--[cellular-retinol-binding-protein]

Enzyme regulation: Inhibited by all-trans-retinyl alpha-bromoacetate and N-boc-L-biocytinyl-11-aminoundecane

chloro-methyl ketone (BACMK)

Induction: LRAT activity is up-regulated by dietary vitamin A. Under conditions of vitamin A depletion, LRAT expression

in the liver is induced by retinoic acid (By similarity)

Enzyme Number (IUBMB): EC 2.3.1.135¹ ²

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001972	retinoic acid binding	IEA	--
GO:0008374	O-acyltransferase activity	--	--
GO:0016746	transferase activity, transferring acyl groups	TAS	9920938
GO:0019841	retinol binding	IEA	--
GO:0047173	phosphatidylcholine-retinol O-acyltransferase activity	IEA	--

LRAT for ontologies About GeneDecksing

Phenotypes:
5 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Lrat):

endocrine/exocrine gland

homeostasis/metabolism

nervous system

reproductive system

vision/eye

LRAT for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for LRAT: Lrat^tm1Log Lrat^tm1Kpal Lrat^tm1.1Bok

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for LRAT

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LRAT
		8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate LRAT (see all 23):
		hsa-miR-140-5p hsa-miR-362-3p hsa-miR-944 hsa-miR-23a hsa-miR-34b hsa-miR-613 hsa-miR-3148 hsa-miR-192*

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRAT

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Retinoid metabolism and transport

	Retinoid metabolism and transport	1.00			Diseases associated with visual transduction	0.73
	Visual phototransduction	0.74

the visual cycle I (vertebrates)

	the visual cycle I (vertebrates)	1.00			The canonical retinoid cycle in rods (twilight vision)	0.50
	retinol biosynthesis	0.52

Visual signal transduction- Rods

Visual signal transduction- Rods

1.00

Visual signal transduction- Cones

0.39

Retinol metabolism

Retinol metabolism

1.00

Disease

Disease

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for LRAT

Visual Cycle in Retinal Rods

1 GeneGo (Thomson Reuters) Pathway for LRAT

Retinol metabolism

5 BioSystems Pathways for LRAT

	Vitamin A and carotenoid metabolism
	Visual signal transduction- Rods
	Visual signal transduction- Cones
	the visual cycle I (vertebrates)
	retinol biosynthesis

5/6 Reactome Pathways for LRAT (see all 6)

	Diseases associated with visual transduction
	Retinoid metabolism and transport
	Signal Transduction
	The canonical retinoid cycle in rods (twilight vision)
	Visual phototransduction

2 Kegg Pathways (Kegg details for LRAT):

	Retinol metabolism
	Vitamin digestion and absorption

UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237

Pathway: Cofactor metabolism; retinol metabolism

LRAT for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for LRAT

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/21 Interacting proteins for LRAT (O95237³ ENSP00000337224⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RBP1	P09455³, ENSP00000232219⁴	I2D: score=1 STRING: ENSP00000232219
RBP2	P50120³, ENSP00000232217⁴	I2D: score=1 STRING: ENSP00000232217
ADH1A	ENSP00000209668⁴	STRING: ENSP00000209668
ADH7	ENSP00000209665⁴	STRING: ENSP00000209665
CES1	ENSP00000353720⁴	STRING: ENSP00000353720

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001523	retinoid metabolic process	TAS	--
GO:0006776	vitamin A metabolic process	IEA	--
GO:0007601	visual perception	IEA	--
GO:0008202	steroid metabolic process	TAS	--
GO:0009790	embryo development	IEA	--

LRAT for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

LRAT for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LRAT

10/1146 HMDB Compounds for LRAT (see all 1146) About this table

Compound	Synonyms	CAS #	PubMed Ids
PC(O-16:0/18:2(9Z,12Z))	1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)	88542-95-4	12486725
1-Butanol	1-Butanol (see all 10)	71-36-3	--
1-Hexanol	1-Hexyl alcohol (see all 30)	111-27-3	--
1-Pentanol	1-Pentol (see all 34)	71-41-0	--
11-cis-Retinol	cis-11-Retinol (see all 2)	22737-96-8	--
Ethanol	1-Hydroxyethane (see all 57)	64-17-5	--
Isobutanol	1-Hydroxymethylpropane (see all 18)	78-83-1	--
Isopropyl alcohol	2-Propanol (see all 12)	67-63-0	--
PC(14:0/14:0)	Phosphatidylcholine(14:0/14:0) (see all 8)	--	--
PC(14:0/14:1(9Z))	Phosphatidylcholine(14:0/14:1) (see all 14)	--	--

1 DrugBank Compound for LRAT About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Vitamin A	[11,12-3H]-Retinol (see all 18)	68-26-8	target	--	16174770 16054134

10/16 Novoseek chemical compound relationships for LRAT gene (see all 16) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinyl ester	93	15	8228637 (3), 12741839 (2), 1988047 (1), 17114808 (1) (see all 9)
11-cis-retinol	92.5	5	9862453 (2), 12755610 (1), 15928609 (1), 2010433 (1)
vitamin a	87.6	143	8504149 (6), 14704332 (5), 11108736 (5), 1322170 (5) (see all 50)
retinoid	83.9	15	14611939 (1), 18400900 (1), 19339306 (1), 17011878 (1) (see all 10)
lecithin	66.8	8	12009892 (1), 8448136 (1), 14596594 (1), 11231005 (1) (see all 6)
retinoic acid	60.6	52	14704332 (4), 8663081 (4), 11108736 (3), 19171200 (2) (see all 12)
betacarotene	54.1	5	10466750 (2), 11250537 (1), 8504149 (1)
retinyl palmitate	42.4	1	8228637 (1)
phosphatidylcholine	38.1	3	17114808 (1), 2271700 (1), 11108736 (1)
isotretinoin	33.4	1	8319203 (1)

Search CenterWatch for drugs/clinical trials and news about LRAT

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LRAT gene:

NM_004744.3

Unigene Cluster for LRAT:

Lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)

Hs.658427 [show with all ESTs]

Unigene Representative Sequence: AY546085

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000500890 ENST00000502525 ENST00000499392(uc003iol.3) ENST00000507827

ENST00000336356(uc003ion.1) ENST00000510733(uc003iom.1) ENST00000502474

ENST00000510919

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LRAT

Additional cDNA sequence:

AF071510.1 AK292598.1 AY546085.1 AY546086.1 BC031053.1

6 DOTS entries:

DT.40273019 DT.99935586 DT.40238407 DT.95093889 DT.99967328 DT.121230965

22 AceView cDNA sequences:

AY546086 NM_004744 AA400777 BC031053 AY546085 BI480893 N46104 BI461423

BX506745 AA232216 BQ432839 W90617 BU568311 AA393342 BX093249 R97712

AF071510 BF243399 AA243120 AV746564 N67162 W90642

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for LRAT About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	^	5	^	6a	·	6b	·	6c
SP1:			-						-		-		-		-
SP2:													-
SP3:
SP4:

ECgene alternative splicing isoforms for LRAT

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LRAT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCAAATAAAG

About this image

LRAT expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retinal Pigmented Epithelium

Mature Retinal Pigmented Epithelium Cells

Selective marker (cell-identifying gene)

Retinal Pigmented Epithelium

Eye

Retinal Pigmented Epithelium

Retinal Pigmented Epithelium Progenitor Cells

Retinal Pigmented Epithelium

Bone

Maxillary Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See LRAT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LRAT

SOURCE GeneReport for Unigene cluster: Hs.658427

UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237

Tissue specificity: Hepatic stellate cells and endothelial cells (at protein level). Found at high levels in testis and

liver, followed by retinal pigment epithelium, small intestine, prostate, pancreas and colon. Low expression observed

in brain. In fetal tissues, expressed in retinal pigment epithelium and liver, and barely in the brain

SABiosciences Custom PCR Arrays for LRAT

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LRAT

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LRAT

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for LRAT gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Lrat^{1 , 5}	lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) less^{1, 5}	81.14(n)¹ 80.26(a)¹		3 (36.81 cM)⁵ 79235¹ NM_023624.4¹ NP_076113.1¹ 82892579⁵
chicken (Gallus gallus)	Aves	LRAT¹	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) less	71.3(n) 65.65(a)		422403 XM_420371.3 XP_420371.2
lizard (Anolis carolinensis)	Reptilia	LRAT⁶	--	67(a)	1 ↔ 1	5(130146888-130152473)
tropical clawed frog (Xenopus tropicalis)	Amphibia	MGC75880²	lecithin retinol acyltransferase	71.96(n)		BC061345.1
zebrafish (Danio rerio)	Actinopterygii	lratb¹	lecithin retinol acyltransferase b (phosphatidylcholine--retinol O-acyltransferase b) less	60.32(n) 59.73(a)		553501 XM_001921155.1 XP_001921190.1

ENSEMBL Gene Tree for LRAT (if available)
TreeFam Gene Tree for LRAT (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104893848^1,2	C	pathogenic	155666003(+)	`ATCAGA/TCCCCA`	2	R S	mis¹		0	--	--	--	--
rs75368761^1,2	C,F	untested	155665552(+)	`GCTCTT/ATAGTT`	2	/Y /F	mis¹		2		WA NA	4668
rs187879077^1,2		--	155663165(+)	`TTGGCA/GCTTTC`	1	--	us2k¹		0	--	--	--	--
rs17031978^1,2	C,F	--	155663171(+)	`CTTTCC/TCAGAA`	1	--	us2k¹		7		NA WA	378
rs192312851^1,2		--	155663401(+)	`CGTCCA/GCTGGC`	1	--	us2k¹		0	--	--	--	--
rs184466202^1,2		--	155663507(+)	`AACAAA/CAGTCA`	1	--	us2k¹		0	--	--	--	--
rs76899213^1,2		--	155663798(+)	`TACATA/CATGCA`	1	--	us2k¹		2		CSA WA	120
rs150312202^1,2		--	155663810(+)	`TAGCAC/TGGAAC`	1	--	us2k¹		0	--	--	--	--
rs73855216^1,2	C,F	--	155663937(+)	`GCGCAC/TGGGCA`	1	--	us2k¹		6		WA NA CSA EA	364
rs138035606^1,2		--	155664044(+)	`AGGGAA/GGCGGA`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for LRAT (155548097 - 155674270 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for LRAT: --
Human Gene Mutation Database (HGMD): LRAT

Locus Specific Mutation Databases (LSDB): LRAT

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

LRAT for disorders           About GeneDecksing

OMIM gene information: 604863
OMIM disorders: 613341
UniProtKB/Swiss-Prot: LRAT_HUMAN, O95237

Defects in LRAT are a cause of Leber congenital amaurosis type 14 (LCA14) [MIM:613341]. It is a severe

dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and

often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and

keratoconus

20/29 diseases for LRAT (see all 29): About MalaCards

retinal dystrophy, early-onset, severe leber congenital amaurosis leber congenital amaurosis 14 retinitis

retinol binding protein retinitis pigmentosa, juvenile retinitis pigmentosa night blindness

epithelioid cell melanoma fundus dystrophy retinal degeneration hyperopia

blindness squamous cell carcinoma nystagmus keratoconus

retinal disease melanoma alzheimer's disease pancreatic cancer

3 diseases from the University of Copenhagen DISEASES database for LRAT:

Leber congenital amaurosis Fundus dystrophy Epithelioid cell melanoma

10/11 Novoseek disease relationships for LRAT gene (see all 11) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lebers congenital amaurosis	91.7	5	17438524 (2), 19339306 (1), 17011878 (1)
retinitis pigmentosa	65	5	17438524 (2), 17011878 (1), 18055816 (1)
retinal degeneration	54.1	2	11133845 (1)
night blindness	52	1	17011878 (1)
vitamin a deficiency	36.9	1	14704332 (1)
renal cancer	25.7	2	14581364 (2)
carcinoma	11.9	5	11912136 (1), 11162450 (1), 14581364 (1), 11062150 (1) (see all 5)
carcinoma squamous cell	0	1	10737902 (1)
tumors	0	19	14581364 (3), 15161698 (3), 17016651 (2), 11289161 (1) (see all 9)
melanoma	0	1	12419830 (1)

GeneTests: LRAT

Leber Congenital Amaurosis

Human Genome Epidemiology (HuGE) Navigator: LRAT (5 documents)

Export disorders for LRAT gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for LRAT gene, integrated from 9 sources (see all 107):
(articles sorted by number of sources associating them with LRAT)

Utopia: connect your pdf to the dynamic
world of online information

Molecular and biochemical characterization of lecithin retinol acyltransferase. (PubMed id 9920938)^{1, 2, 3, 9} Ruiz A.... Bok D. (1999)
Lecithin: retinol acyltransferase protein is distributed in both hepatic stellate cells and endothelial cells of normal rodent and human liver. (PubMed id 18544127)^{1, 2, 9} Nagatsuma K....Matsuura T. (2009)
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. (PubMed id 17011878)^{1, 2, 9} Senechal A....Hamel C.P. (2006)
Lecithin retinol acyltransferase contains cysteine residues essential for catalysis. (PubMed id 10819989)^{1, 2, 9} Mondal M.S.... Rando R.R. (2000)
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. (PubMed id 11381255)^{1, 2, 9} Thompson D.A.... Gal A. (2001)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Reduced lecithin: retinol acyltransferase expression correlates with increased pathologic tumor stage in bladder cancer. (PubMed id 15161698)^{1, 9} Boorjian S....Gudas L.J. (2004)
Lecithin retinol acyltransferase is a founder member of a novel family of enzymes. (PubMed id 14596594)^{1, 9} Jahng W.J....Rando R.R. (2003)
Genomic organization and mutation analysis of the gene encoding lecithin retinol acyltransferase in human retinal pigment epithelium. (PubMed id 11133845)^{1, 9} Ruiz A....Bok D. (2001)
Lecithin retinol acyltransferase forms functional homodimers. (PubMed id 12009892)^{1, 9} Jahng W.J....Rando R.R. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9227	HGNC: 6685	AceView: LRAT	Ensembl:ENSG00000121207	euGenes: HUgn9227
ECgene: LRAT	Kegg: 9227	H-InvDB: LRAT

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for LRAT	Pharmacogenomics, SNPs, Pathways

Intellectual Property for LRAT gene
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Patent Information for LRAT gene:
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GeneCards and IP:
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