Aliases for LRAT Gene
Aliases for LRAT Gene
External Ids for LRAT Gene
- HGNC: 6685
- Entrez Gene: 9227
- Ensembl: ENSG00000121207
- OMIM: 604863
- UniProtKB: 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 Severe Early-Childhood-Onset Retinal Dystrophy. Among its related pathways are Drug metabolism - cytochrome P450 and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and retinol binding.
UniProtKB/Swiss-Prot for LRAT Gene
-
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.
Additional gene information for LRAT Gene
- Monarch Initiative
- Search for LRAT at DataMed
- Search for LRAT at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRAT Gene
Genomics for LRAT Gene
GeneHancer (GH) Regulatory Elements for LRAT Gene
Promoters and enhancers for LRAT Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH04J154626 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE | 655.7 | +0.2 | 151 | 1 | RB1 ZNF48 RAD21 YY1 ZNF335 GLIS2 ZNF143 ZNF654 MXD4 REST | LRAT GC04M154691 | |
| GH04J154743 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE dbSUPER | 650.1 | +117.1 | 117116 | 1.5 | CTCF SP2 ETS1 E2F1 SP1 CTBP1 GLIS2 POLR2A ZNF184 GLIS1 | PIR56291 PIR52192 LRAT PIR37413 | |
| GH04J154549 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 11.6 | -76.7 | -76703 | 1.9 | SMAD1 ATF1 ARNT ARID4B SIN3A ZNF2 ZNF48 YY1 ETS1 GTF3C2 | PLRG1 FGG LRAT GC04M154544 RNU6-1285P | |
| GH04J154659 | Enhancer | 1.3 | VISTA ENCODE | 12 | +33.3 | 33283 | 1.4 | FOXA2 ARID4B ETS1 YY1 TCF12 RXRA MIER2 REST PPARG KAT8 | LRAT GC04M154691 | |
| GH04J154718 | Promoter/Enhancer | 1.4 | EPDnew ENCODE dbSUPER | 10.8 | +93.6 | 93567 | 4.2 | CTCF JUN CEBPG IRF9 FOSL1 POLR2A ZNF143 ATF7 TRIM24 SMARCE1 | FGG LRAT LOC105377500 RBM46 NDUFB2P1 PIR53599 |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the LRAT gene promoter:
-
- Nkx2-5
- MEF-2A
- aMEF-2
- HFH-1
- Sox5
- Lmo2
- TBP
- FOXL1
- Pax-3
Regulatory Element Products
Genomic Locations for LRAT Gene
Genomic Locations for LRAT Gene
- chr4:154,626,945-154,753,119
- (GRCh38/hg38)
- Size:
- 126,175 bases
- Orientation:
- Plus strand
- chr4:155,548,097-155,674,270
- (GRCh37/hg19)
- Size:
- 126,174 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 Entrez Gene
- 4q32.1 by HGNC
- 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
Post-translational modifications for LRAT Gene
Other Protein References for LRAT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for LRAT
- Novus Biologicals Antibodies for LRAT
-
Abcam antibodies for LRAT
- Invitrogen Antibodies for LRAT
- GeneTex LRAT Antibody for LRAT
-
Boster Bio Antibodies for LRAT
-
Santa Cruz Biotechnology (SCBT) Antibodies for LRAT
Protein Products
-
OriGene Purified Proteins for LRAT
- Search Origene for MassSpec and Protein Over-expression Lysates for LRAT
- Origene Custom Protein Services for LRAT
- antibodies-online: Search results for 8 available LRAT Proteins ranked by validation data
- Compare Top LRAT Proteins
-
Quality Products:
- Search GeneTex for Proteins for LRAT
-
Abcam proteins for LRAT
Assay Products
- antibodies-online: Search results for 5 available LRAT Elisa Kits ranked by validation data
- Compare Top LRAT Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for LRAT Gene
Domains & Families for LRAT Gene
Gene Families for LRAT Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for LRAT Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for LRAT Gene
- GenScript: Design optimal peptide antigens:
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. 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Phosphatidylcholine + retinol--[cellular-retinol-binding-protein] = 2-acylglycerophosphocholine + retinyl-ester--[cellular-retinol-binding-protein].
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by all-trans-retinyl alpha-bromoacetate and N-boc-L-biocytinyl-11-aminoundecane chloro-methyl ketone (BACMK).
- 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).
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: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 |
Phenotypes for LRAT Gene
- MGI mutant phenotypes for LRAT:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for LRAT:
Animal Models for LRAT Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for LRAT
-
CRISPR Products
-
OriGene CRISPR knockouts for LRAT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LRAT
- genomics-online: gRNA clones - Search results for 122 available LRAT gene related products
- Overview of 122 available LRAT gene related products
- Applied Biological Materials CRISPR for LRAT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LRAT
- GenScript: Design CRISPR guide RNA sequences 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)
- 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
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 122 available LRAT gene related products
- Overview of 122 available LRAT gene related products
Clone Products
- Sino Biological Human cDNA Clone for LRAT
- VectorBuilder custom plasmid, inducible vectors for LRAT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LRAT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LRAT
- Applied Biological Materials Clones for LRAT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
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 |
| plasma membrane | 2 |
| extracellular | 2 |
| peroxisome | 1 |
| nucleus | 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 | IEA | -- |
| 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 | ||
| 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
1 Qiagen pathway for LRAT Gene
UniProtKB/Swiss-Prot O95237-LRAT_HUMAN
- Pathway: Cofactor metabolism; retinol metabolism.
Interacting Proteins for LRAT Gene
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 | -- |
| GO:0007601 | visual perception | IEA | -- |
| GO:0032370 | positive regulation of lipid transport | IEA | -- |
| GO:0032526 | response to retinoic acid | 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 |
|
|
||||
| 1-Hexanol |
|
111-27-3 |
|
Transcripts for LRAT Gene
mRNA/cDNA for LRAT Gene
- (2) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (22) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000500890 1776 bps (uc063akf.1)
- ENST00000502525 546 bps (uc063akg.1)
- ENST00000499392 603 bps (uc003iol.4)
- ENST00000507827 2654 bps (uc063akh.1)
- ENST00000336356 4928 bps (uc003ion.2)
Unigene Clusters for LRAT Gene
- Lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase):
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for LRAT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for LRAT
- genomics-online: gRNA clones - Search results for 122 available LRAT gene related products
- Overview of 122 available LRAT gene related products
- Applied Biological Materials CRISPR for LRAT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for LRAT
- GenScript: Design CRISPR guide RNA sequences for LRAT
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for 122 available LRAT gene related products
- Overview of 122 available LRAT gene related products
Clone Products
- Sino Biological Human cDNA Clone for LRAT
- VectorBuilder custom plasmid, inducible vectors for LRAT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for LRAT
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LRAT
- Applied Biological Materials Clones for LRAT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||
| SP2: | - | ||||||||||||||||||||
| SP3: | |||||||||||||||||||||
| SP4: |
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
NURSA nuclear receptor signaling pathways regulating expression of LRAT Gene:
LRATSOURCE 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(4.3)
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
-
OriGene qPCR primer pairs for LRAT
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LRAT 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | LRAT 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | LRAT 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | LRAT 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Lrat 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Lrat 33 |
|
||
| chicken (Gallus gallus) |
Aves | LRAT 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | LRAT 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | lrat 33 |
|
||
| MGC75880 33 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | lratb 33 |
|
||
| LRAT 34 |
|
OneToOne |
- Species where no ortholog for LRAT was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
Paralogs for LRAT Gene
No data available for Paralogs for LRAT Gene
Variants for LRAT Gene
| SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104893848 | pathogenic, not-provided, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, not provided, Leber congenital amaurosis 14 (LCA14) [MIM:613341] | 154,744,851(+) | T/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
| rs115053323 | uncertain-significance, Retinal dystrophy, Retinitis Pigmentosa, Recessive, Leber congenital amaurosis | 154,752,400(+) | G/A | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs12507608 | likely-benign, Leber congenital amaurosis, Retinitis Pigmentosa, Recessive, Retinal dystrophy | 154,750,474(+) | T/G | 3_prime_UTR_variant, genic_downstream_transcript_variant | |
| rs139819099 | uncertain-significance, Retinitis Pigmentosa, Recessive, Retinal dystrophy, Leber congenital amaurosis | 154,744,729(+) | G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs144961748 | uncertain-significance, Leber congenital amaurosis, Retinitis Pigmentosa, Recessive, Retinal dystrophy | 154,752,848(+) | G/C | 3_prime_UTR_variant, genic_downstream_transcript_variant |
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 Assay Products
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
(7) MalaCards diseases for LRAT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leber congenital amaurosis 14 |
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| severe early-childhood-onset retinal dystrophy |
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| leber congenital amaurosis |
|
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| retinitis pigmentosa |
|
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| keratomalacia |
|
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 mutations affecting the gene represented in this entry.
Additional Disease Information for LRAT
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for LRAT Gene
Publications for LRAT Gene
- Molecular and biochemical characterization of lecithin retinol acyltransferase. (PMID: 9920938) Ruiz A … Bok D (The Journal of biological chemistry 1999) 2 3 4 22 58
- 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 58
- A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. (PMID: 18823527) Abraham R … Kirov G (BMC medical genomics 2008) 3 22 44 58
- 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 58
- 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 58
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Sources for LRAT Gene
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