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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 spli... See more...
Aliases for LRAT Gene
Aliases for LRAT Gene
External Ids for LRAT Gene
- HGNC: 6685
- NCBI Entrez Gene: 9227
- Ensembl: ENSG00000121207
- OMIM®: 604863
- UniProtKB/Swiss-Prot: O95237
Previous GeneCards Identifiers for LRAT Gene
- GC04P156514
- GC04P156050
- GC04P156239
- GC04P156019
- GC04P155881
- GC04P155665
- GC04P155549
- GC04P151405
Summaries for LRAT Gene
-
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]
GeneCards Summary for LRAT Gene
LRAT (Lecithin Retinol Acyltransferase) is a Protein Coding gene. Diseases associated with LRAT include Leber Congenital Amaurosis 14 and Retinitis Pigmentosa. Among its related pathways are Phototransduction and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and retinol binding. An important paralog of this gene is PLAAT1.
UniProtKB/Swiss-Prot Summary for LRAT Gene
-
Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters (PubMed:9920938). Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). 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 (Probable). Required for the survival of cone photoreceptors and correct rod photoreceptor cell morphology (By similarity).
Additional gene information for LRAT Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRAT Gene
Genomics for LRAT Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for LRAT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around LRAT on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRAT
- Top Transcription factor binding sites by QIAGEN in the LRAT gene promoter:
-
- aMEF-2
- FOXL1
- HFH-1
- Lmo2
- MEF-2A
- Nkx2-5
- Pax-3
- Sox5
- TBP
Genomic Locations for LRAT Gene
Latest Assembly
- chr4:154,626,945-154,753,120
- (GRCh38/hg38)
- Size:
- 126,176 bases
- Orientation:
- Plus strand
Previous Assembly
- chr4:155,661,990-155,674,272
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 12,283 bases
- Orientation:
- Plus strand
Genomic View for LRAT Gene
Genes around LRAT on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q32.1 by HGNC
- 4q32.1 by Entrez Gene
- 4q32.1 by Ensembl
LRAT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LRAT Gene
Proteins for LRAT Gene
-
Protein details for LRAT Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O95237-LRAT_HUMAN
- Recommended name:
- Lecithin retinol acyltransferase
- Protein Accession:
- O95237
- A8K983
- Q8N716
Protein attributes for LRAT Gene
- Size:
- 230 amino acids
- Molecular mass:
- 25703 Da
- Quaternary structure:
- No Data Available
Protein Expression for LRAT Gene
Selected DME Specific Peptides for LRAT Gene
- O95237:
-
- HYGIYLG
- ILVNHLD
- VASIRVDTVEDFAYGA
Post-translational modifications for LRAT Gene
Other Protein References for LRAT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences LRAT Antibody (LS-B8398) and LRAT Antibody (LS-B12493)
-
Custom Antibody ServicesOriGene Antibodies for LRAT
- Novus Biologicals Antibodies for LRAT
-
Abcam antibodies for LRAT
- Invitrogen Antibodies for LRAT (AFLGC-LRAT)
-
Boster Bio Antibodies for LRAT
-
Santa Cruz Biotechnology (SCBT) Antibodies for LRAT
Protein products for research
-
OriGene Purified Proteins for LRAT
- Search Origene for MassSpec and Protein Over-expression Lysates for LRAT
- Origene Custom Protein Services for LRAT
- antibodies-online: Show 8 available LRAT Proteins ranked by validation data
- Compare Top LRAT Proteins
-
Quality Products:
-
Abcam proteins for LRAT
Assay products for research
- antibodies-online: Show 8 available LRAT Elisa Kits ranked by validation data
- Compare Top LRAT Elisa Kits
-
Quality Products:
Domains & Families for LRAT Gene
Gene Families for LRAT Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Suggested Antigen Peptide Sequences for LRAT Gene
- GenScript: Design optimal peptide antigens:
-
- Phosphatidylcholine--retinol O-acyltransferase (LRAT_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O95237- Family:
-
- Belongs to the H-rev107 family.
Function for LRAT Gene
Molecular function for LRAT Gene
- UniProtKB/Swiss-Prot Function:
- Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters (PubMed:9920938). Retinyl esters are storage forms of vitamin A (Probable). LRAT plays a critical role in vision (Probable). 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 (Probable). Required for the survival of cone photoreceptors and correct rod photoreceptor cell morphology (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = a 2-acyl-sn-glycero-3-phosphocholine + an all-trans-retinyl ester + apo--[retinol-binding protein]; Xref=Rhea:RHEA:17469, Rhea:RHEA-COMP:14426, Rhea:RHEA-COMP:14428, ChEBI:CHEBI:17336, ChEBI:CHEBI:57643, ChEBI:CHEBI:57875, ChEBI:CHEBI:63410, ChEBI:CHEBI:83228; EC=2.3.1.135; Evidence={ECO:0000305|PubMed:10819989};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + all-trans-retinol = all-trans-retinyl hexadecanoate + hexadecanoyl-sn-glycero-3-phosphocholine; Xref=Rhea:RHEA:43904, ChEBI:CHEBI:17336, ChEBI:CHEBI:17616, ChEBI:CHEBI:64563, ChEBI:CHEBI:72999; Evidence={ECO:0000269|PubMed:10819989};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-diheptanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-heptanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl heptanoate + apo--[retinol-binding protein]; Xref=Rhea:RHEA:55320, Rhea:RHEA-COMP:14426, Rhea:RHEA-COMP:14428, ChEBI:CHEBI:17336, ChEBI:CHEBI:83228, ChEBI:CHEBI:138195, ChEBI:CHEBI:138266, ChEBI:CHEBI:138724; Evidence={ECO:0000250|UniProtKB:Q9JI60};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-dioctanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-octanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl octanoate + apo--[retinol-binding protein]; Xref=Rhea:RHEA:56240, Rhea:RHEA-COMP:14426, Rhea:RHEA-COMP:14428, ChEBI:CHEBI:17336, ChEBI:CHEBI:78228, ChEBI:CHEBI:83228, ChEBI:CHEBI:140082, ChEBI:CHEBI:140084; Evidence={ECO:0000250|UniProtKB:Q9JI60};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-hexadecanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl hexadecanoate + apo--[retinol-binding protein]; Xref=Rhea:RHEA:56244, Rhea:RHEA-COMP:14426, Rhea:RHEA-COMP:14428, ChEBI:CHEBI:17336, ChEBI:CHEBI:17616, ChEBI:CHEBI:72999, ChEBI:CHEBI:76078, ChEBI:CHEBI:83228; Evidence={ECO:0000250|UniProtKB:Q9JI60};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-didodecanoyl-sn-glycero-3-phosphocholine + all-trans-retinol--[retinol-binding protein] = 2-dodecanoyl-sn-glycero-3-phosphocholine + all-trans-retinyl dodecanoate + apo--[retinol-binding protein]; Xref=Rhea:RHEA:56248, Rhea:RHEA-COMP:14426, Rhea:RHEA-COMP:14428, ChEBI:CHEBI:17336, ChEBI:CHEBI:65211, ChEBI:CHEBI:83228, ChEBI:CHEBI:140088, ChEBI:CHEBI:140089; Evidence={ECO:0000250|UniProtKB:Q9JI60};.
- UniProtKB/Swiss-Prot 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).
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by all-trans-retinyl alpha-bromoacetate and N-boc-L-biocytinyl-11-aminoundecane chloro-methyl ketone (BACMK).
Enzyme Numbers (IUBMB) for LRAT Gene
Phenotypes From GWAS Catalog for LRAT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001972 | retinoic acid binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 32296183 |
| GO:0008374 | O-acyltransferase activity | IEA | -- |
| GO:0016416 | O-palmitoyltransferase activity | TAS | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for LRAT Gene
- MGI mutant phenotypes for LRAT:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for LRAT:
Animal Models for LRAT Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for LRAT - Starting at $85 >
- * LRAT CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for LRAT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LRAT
-
Santa Cruz Biotechnology (SCBT) CRISPR for LRAT
miRNA for LRAT Gene
- miRTarBase miRNAs that target LRAT
-
- hsa-miR-335-5p (MIRT017703)
- hsa-miR-384 (MIRT442044)
- hsa-miR-5571-3p (MIRT442045)
- hsa-miR-7975 (MIRT442046)
- hsa-miR-628-3p (MIRT442047)
- hsa-miR-551b-5p (MIRT442048)
- mmu-miR-1912-3p (MIRT582622)
- hsa-miR-1285-5p (MIRT616634)
- hsa-miR-129-5p (MIRT616635)
- hsa-miR-8055 (MIRT616636)
- hsa-miR-744-3p (MIRT616637)
- hsa-miR-4309 (MIRT616638)
- hsa-miR-3198 (MIRT616639)
- hsa-miR-4294 (MIRT616640)
- hsa-miR-1289 (MIRT616641)
- hsa-miR-8082 (MIRT616642)
- hsa-miR-4534 (MIRT616643)
- hsa-miR-1273f (MIRT616644)
- hsa-miR-4708-5p (MIRT616645)
- hsa-miR-6088 (MIRT616646)
- hsa-miR-4770 (MIRT616647)
- hsa-miR-143-3p (MIRT616648)
- hsa-miR-1304-3p (MIRT616649)
- hsa-miR-6514-5p (MIRT616650)
- hsa-miR-3671 (MIRT656649)
- hsa-miR-607 (MIRT656650)
- hsa-miR-676-5p (MIRT656651)
- hsa-miR-1264 (MIRT656652)
- hsa-miR-3184-3p (MIRT656653)
- hsa-miR-5698 (MIRT667548)
- hsa-miR-3692-3p (MIRT667549)
- hsa-miR-4436b-5p (MIRT667550)
- hsa-miR-6509-3p (MIRT667551)
- hsa-miR-4423-5p (MIRT667552)
- hsa-miR-6501-5p (MIRT667553)
- hsa-miR-143-5p (MIRT667554)
- hsa-miR-4430 (MIRT667555)
- hsa-miR-3652 (MIRT667556)
- hsa-miR-6722-5p (MIRT667557)
- hsa-miR-122-5p (MIRT667558)
- hsa-miR-504-3p (MIRT667559)
- hsa-miR-3135b (MIRT667560)
- hsa-miR-6499-3p (MIRT667561)
- hsa-miR-2276-3p (MIRT667562)
- hsa-miR-6777-3p (MIRT667563)
- hsa-miR-5693 (MIRT667564)
- hsa-miR-6890-3p (MIRT667565)
- hsa-miR-3680-5p (MIRT667566)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LRAT
- Browse OriGene Inhibitory RNA Products For LRAT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRAT
Clone products for research
- Sino Biological Human cDNA Clone for LRAT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LRAT
Cell Lines for research
-
Horizon Cell Lines for LRAT
No data available for Transcription Factor Targets and HOMER Transcription for LRAT Gene
Localization for LRAT Gene
Subcellular locations from UniProtKB/Swiss-Prot for LRAT Gene
- Endoplasmic reticulum membrane. Single-pass membrane protein. Rough endoplasmic reticulum. Endosome, multivesicular body. Cytoplasm, perinuclear region. 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). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 4 |
| endosome | 4 |
| extracellular | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| nucleus | 2 |
| cytosol | 2 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (1)
- Golgi apparatus (1)
| 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 | ISS | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
Pathways & Interactions for LRAT Gene
| 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 | ||
Pathways by source for LRAT Gene
5 BioSystems pathways for LRAT Gene
7 Reactome pathways for LRAT Gene
2 KEGG pathways for LRAT Gene
1 GeneGo (Thomson Reuters) pathway for LRAT Gene
- Retinol metabolism
1 Qiagen pathway for LRAT Gene
- Visual Cycle in Retinal Rods
UniProtKB/Swiss-Prot O95237-LRAT_HUMAN
- Pathway: Cofactor metabolism; retinol metabolism.
Interacting Proteins for LRAT Gene
Selected Interacting proteins:
O95237-LRAT_HUMAN
ENSP00000337224
for LRAT Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for LRAT
| 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 | -- |
No data available for SIGNOR curated interactions for LRAT Gene
Drugs & Compounds for LRAT Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 11-cis-Retinol |
|
22737-96-8 | ||||
| Retinyl ester |
|
|||||
| retinyl palmitate |
|
79-81-2 | ||||
| 11-cis-Retinyl palmitate |
|
51249-33-3 |
|
|||
| 1-Hexanol |
|
111-27-3 |
|
Transcripts for LRAT Gene
mRNA/cDNA for LRAT Gene
- 2 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000336356 4901 nts (view in UCSC)
- ENST00000499392 603 nts (view in UCSC)
- ENST00000500890 1776 nts (view in UCSC)
- ENST00000502474 772 nts (view in UCSC)
- ENST00000502525 546 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for LRAT - Starting at $85 >
- * LRAT CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for LRAT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LRAT
-
Santa Cruz Biotechnology (SCBT) CRISPR for LRAT
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for LRAT
- Browse OriGene Inhibitory RNA Products For LRAT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRAT
Clone products for research
- Sino Biological Human cDNA Clone for LRAT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LRAT
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||
| SP2: | - | ||||||||||||||||||||
| SP3: | |||||||||||||||||||||
| SP4: |
Relevant External Links for LRAT Gene
- GeneLoc Exon Structure for
- LRAT
Expression for LRAT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Retinal Pigmented Epithelium Progenitor Cells Retinal Pigmented Epithelium
- Retinal pigmented epithelial-like cells(Liao JL et. al. 2010)
- Inner Cell Mass (Early Embryonic Tissues)
-
Epithelial Cells
- Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
- Retinal pigmented epithelial-like cells(Liao JL et. al. 2010)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for LRAT Gene
This gene is overexpressed in Brain - Hypothalamus (x5.7) and Brain - Spinal cord (cervical c-1) (x5.2).
This gene is overexpressed in Monocytes (41.9) and Fetal testis (27.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LRAT Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRAT
SOURCE GeneReport for Unigene cluster for LRAT Gene:
Hs.658427mRNA Expression by UniProt/SwissProt for LRAT Gene:
O95237-LRAT_HUMAN
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.
Evidence on tissue expression from TISSUES for LRAT Gene
- Liver(4.5)
- Eye(2.3)
- Nervous system(2.3)
- Intestine(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for LRAT Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- middle ear
- nose
- olfactory bulb
- outer ear
- skull
Abdomen:
- liver
Pelvis:
- penis
- testicle
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal cord
Primer products for research
-
OriGene qPCR primer pairs for LRAT
Gene Expression Assays for research
Orthologs for LRAT Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LRAT 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | LRAT 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | LRAT 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | LRAT 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | LRAT 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Lrat 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Lrat 29 |
|
||
| Chicken (Gallus gallus) |
Aves | LRAT 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | LRAT 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lrat 29 |
|
||
| MGC75880 29 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | lratb 29 |
|
||
| LRAT 30 |
|
OneToOne |
- Species where no ortholog for LRAT was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for LRAT Gene
- ENSEMBL:
- Gene Tree for LRAT (if available)
- TreeFam:
- Gene Tree for LRAT (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for LRAT: view image
- Alliance of Genome Resources:
- Additional Orthologs for LRAT
Paralogs for LRAT Gene
Variants for LRAT Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRAT Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1002357 | Uncertain Significance: not provided | 154,744,708(+) |
G/C NM_004744.5(LRAT):c.382G>C (p.Asp128His) |
MISSENSE | |
| 1002637 | Uncertain Significance: not provided | 154,749,012(+) |
G/A NM_004744.5(LRAT):c.569G>A (p.Arg190His) |
MISSENSE | |
| 1016718 | Uncertain Significance: not provided | 154,744,565(+) |
C/T NM_004744.5(LRAT):c.239C>T (p.Ala80Val) |
MISSENSE | |
| 1027347 | Uncertain Significance: not provided | 154,744,858(+) |
T/C NM_004744.5(LRAT):c.532T>C (p.Ser178Pro) |
MISSENSE | |
| 1034751 | Uncertain Significance: not provided | 154,749,075(+) |
T/G NM_004744.5(LRAT):c.632T>G (p.Leu211Trp) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
60.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.36;
26.88% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for LRAT Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for LRAT Gene
Disorders for LRAT Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leber congenital amaurosis 14 |
|
|
| retinitis pigmentosa |
|
|
| severe early-childhood-onset retinal dystrophy |
|
|
| cone-rod dystrophy 2 |
|
|
| leber plus disease |
|
Search LRAT in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
LRAT_HUMAN- Leber congenital amaurosis 14 (LCA14) [MIM:613341]: 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. {ECO:0000269 PubMed:11381255, ECO:0000269 PubMed:17011878, ECO:0000269 PubMed:18055821}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for LRAT
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for LRAT Gene
Publications for LRAT Gene
- Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. (PMID: 18055821) den Hollander AI … Koenekoop RK (Investigative ophthalmology & visual science 2007) 3 4 22 72
- Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. (PMID: 17011878) Sénéchal A … Hamel CP (American journal of ophthalmology 2006) 3 4 22 72
- Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. (PMID: 11381255) Thompson DA … Gal A (Nature genetics 2001) 3 4 22 72
- Molecular and biochemical characterization of lecithin retinol acyltransferase. (PMID: 9920938) Ruiz A … Bok D (The Journal of biological chemistry 1999) 2 3 4 22
- Lecithin: retinol acyltransferase protein is distributed in both hepatic stellate cells and endothelial cells of normal rodent and human liver. (PMID: 18544127) Nagatsuma K … Matsuura T (Liver international : official journal of the International Association for the Study of the Liver 2009) 3 4 22
ExternalLinks
Products for LRAT Gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for LRAT
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- Boster Bio Antibodies for LRAT
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Sources for LRAT Gene
- (1) GeneCards
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