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This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] See more...
Aliases for ALDH1A3 Gene
Aliases for ALDH1A3 Gene
External Ids for ALDH1A3 Gene
- HGNC: 409
- NCBI Entrez Gene: 220
- Ensembl: ENSG00000184254
- OMIM®: 600463
- UniProtKB/Swiss-Prot: P47895
Previous HGNC Symbols for ALDH1A3 Gene
- ALDH6
Previous GeneCards Identifiers for ALDH1A3 Gene
- GC15P098102
- GC15P095259
- GC15P099012
- GC15P099156
- GC15P099157
- GC15P099237
- GC15P101419
- GC15P077542
Summaries for ALDH1A3 Gene
-
This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
GeneCards Summary for ALDH1A3 Gene
ALDH1A3 (Aldehyde Dehydrogenase 1 Family Member A3) is a Protein Coding gene. Diseases associated with ALDH1A3 include Microphthalmia, Isolated 8 and Microphthalmia. Among its related pathways are Signaling by GPCR and Drug metabolism - cytochrome P450. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and aldehyde dehydrogenase (NAD) activity. An important paralog of this gene is ALDH1A2.
UniProtKB/Swiss-Prot Summary for ALDH1A3 Gene
-
NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:27759097). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (PubMed:27759097). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity).
Additional gene information for ALDH1A3 Gene
- HGNC (409)
- NCBI Entrez Gene (220)
- Ensembl (ENSG00000184254)
- OMIM® (600463)
- UniProtKB/Swiss-Prot (P47895)
- Open Targets Platform(ENSG00000184254)
- Monarch Initiative
- Search for ALDH1A3 at DataMed
- Search for ALDH1A3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH1A3 Gene
Genomics for ALDH1A3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ALDH1A3 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 ALDH1A3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALDH1A3
- Top Transcription factor binding sites by QIAGEN in the ALDH1A3 gene promoter:
-
- ATF6
- CUTL1
- HOXA9
- HOXA9B
- Meis-1
- Meis-1b
- POU2F1
- POU2F1a
Genomic Locations for ALDH1A3 Gene
Latest Assembly
- chr15:100,877,714-100,916,626
- (GRCh38/hg38)
- Size:
- 38,913 bases
- Orientation:
- Plus strand
Previous Assembly
- chr15:101,420,036-101,456,831
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 36,796 bases
- Orientation:
- Plus strand
- chr15:101,417,919-101,456,831
- (GRCh37/hg19 by Ensembl)
- Size:
- 38,913 bases
- Orientation:
- Plus strand
Genomic View for ALDH1A3 Gene
Genes around ALDH1A3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q26.3 by HGNC
- 15q26.3 by Entrez Gene
- 15q26.3 by Ensembl
ALDH1A3 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 ALDH1A3 Gene
Proteins for ALDH1A3 Gene
-
Protein details for ALDH1A3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P47895-AL1A3_HUMAN
- Recommended name:
- Aldehyde dehydrogenase family 1 member A3
- Protein Accession:
- P47895
- Q6NT64
Protein attributes for ALDH1A3 Gene
- Size:
- 512 amino acids
- Molecular mass:
- 56108 Da
- Quaternary structure:
-
- Homotetramer.
Protein Expression for ALDH1A3 Gene
Selected DME Specific Peptides for ALDH1A3 Gene
- P47895:
-
- KILELIESGK
- EGAKLECGG
- LADLVERD
- RHEPIGV
- MRIAKEEIFGPV
- VTLELGG
- VLKPAEQTP
- EAGFPPGV
- PWNFPLLM
- VFTKNLD
- TKIFINNEW
- KPAEQTPL
- GNGRELGE
- TLELGGK
- ITPWNFP
- FFNQGQCC
- YTEVKTVT
- GVVNIVPG
- PFGGFKMSGNGRE
Post-translational modifications for ALDH1A3 Gene
Other Protein References for ALDH1A3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ ALDH1A3 Antibody
- NSJ Bioreagents ALDH1A3 Antibody
- Novus Biologicals Antibodies for ALDH1A3
-
Abcam antibodies for ALDH1A3
- Invitrogen Antibodies for ALDH1A3 (AFLGC-ALDH1A3)
-
Boster Bio Antibodies for ALDH1A3
-
Custom Antibody ServicesProSci Antibodies for ALDH1A3
-
Santa Cruz Biotechnology (SCBT) Antibodies for ALDH1A3
Protein products for research
- G Biosciences Human Aldehyde Dehydrogenase 1-A3/ALDH1A3, Liquid
-
OriGene Purified Proteins for ALDH1A3
- Search Origene for MassSpec and Protein Over-expression Lysates for ALDH1A3
- Origene Custom Protein Services for ALDH1A3
- Sino Biological Recombinant Proteins for ALDH1A3
- Browse Sino Biological Cell Lysates
-
ProSci Proteins for ALDH1A3
Assay products for research
- antibodies-online: Show 12 available ALDH1A3 Elisa Kits ranked by validation data
- Compare Top ALDH1A3 Elisa Kits
-
Quality Products:
Domains & Families for ALDH1A3 Gene
Gene Families for ALDH1A3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for ALDH1A3 Gene
- InterPro:
- Blocks:
-
- Aldehyde dehydrogenase
- ProtoNet:
Suggested Antigen Peptide Sequences for ALDH1A3 Gene
- GenScript: Design optimal peptide antigens:
-
- Retinaldehyde dehydrogenase 3 (AL1A3_HUMAN)
- cDNA FLJ57762, highly similar to Aldehyde dehydrogenase 1A3 (EC 1.2.1.5) (B4E0M6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P47895- Family:
-
- Belongs to the aldehyde dehydrogenase family.
Function for ALDH1A3 Gene
Molecular function for ALDH1A3 Gene
- UniProtKB/Swiss-Prot Function:
- NAD-dependent aldehyde dehydrogenase that catalyzes the formation of retinoic acid (PubMed:27759097). Has high activity with all-trans retinal, and has much lower in vitro activity with acetaldehyde (PubMed:27759097). Required for the biosynthesis of normal levels of retinoic acid in the embryonic ocular and nasal regions; retinoic acid is required for normal embryonic development of the eye and the nasal region (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=all-trans-retinal + H2O + NAD(+) = all-trans-retinoate + 2 H(+) + NADH; Xref=Rhea:RHEA:42080, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17898, ChEBI:CHEBI:35291, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.2.1.36; Evidence={ECO:0000269|PubMed:27759097};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=9.3 uM for all-trans retinal {ECO:0000269|PubMed:27759097}; KM=4.8 uM for NAD {ECO:0000269|PubMed:27759097}; KM=2.4 mM for acetaldehyde {ECO:0000269|PubMed:27759097};
Enzyme Numbers (IUBMB) for ALDH1A3 Gene
Phenotypes From GWAS Catalog for ALDH1A3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001758 | retinal dehydrogenase activity | IEA,IDA | 27759097 |
| GO:0004029 | aldehyde dehydrogenase (NAD) activity | IBA | 21873635 |
| GO:0004030 | aldehyde dehydrogenase [NAD(P)+] activity | IDA | 11585737 |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016620 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor | IEA | -- |
Phenotypes for ALDH1A3 Gene
- MGI mutant phenotypes for ALDH1A3:
-
inferred from 4 alleles
- normal phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- behavior/neurological phenotype
- respiratory system phenotype
- mortality/aging
- renal/urinary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for ALDH1A3:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Negative genetic interaction between MUS81-/- and MUS81+/+
- shRNA abundance <= 50%
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Negative genetic interaction between BLM-/- and BLM+/+
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Increased transferrin (TF) endocytosis (mild increase), increased transferrin (TF) endosome elongation
Animal Models for ALDH1A3 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 ALDH1A3 - Starting at $85 >
- * ALDH1A3 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 ALDH1A3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALDH1A3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALDH1A3
miRNA for ALDH1A3 Gene
- miRTarBase miRNAs that target ALDH1A3
-
- hsa-miR-9-5p (MIRT021438)
- hsa-miR-7-5p (MIRT025948)
- hsa-miR-4652-3p (MIRT694399)
- hsa-miR-1185-2-3p (MIRT694400)
- hsa-miR-1185-1-3p (MIRT694401)
- hsa-let-7f-2-3p (MIRT694402)
- hsa-miR-4789-5p (MIRT694403)
- hsa-miR-98-3p (MIRT694404)
- hsa-let-7f-1-3p (MIRT694405)
- hsa-let-7b-3p (MIRT694406)
- hsa-let-7a-3p (MIRT694407)
- hsa-miR-3941 (MIRT694408)
- hsa-miR-152-5p (MIRT694409)
- hsa-miR-597-3p (MIRT694410)
- hsa-miR-182-3p (MIRT694411)
- hsa-miR-942-3p (MIRT694412)
- hsa-miR-4802-3p (MIRT694413)
- hsa-miR-6757-3p (MIRT694414)
- hsa-miR-603 (MIRT694415)
- hsa-miR-362-3p (MIRT694416)
- hsa-miR-329-3p (MIRT694417)
- hsa-miR-8485 (MIRT694418)
- hsa-miR-1304-5p (MIRT718392)
- hsa-miR-6858-5p (MIRT718393)
- hsa-miR-4689 (MIRT718394)
- hsa-miR-1224-5p (MIRT718395)
- hsa-miR-3915 (MIRT718396)
- hsa-miR-4533 (MIRT718397)
- hsa-miR-3928-3p (MIRT718398)
- hsa-miR-6876-5p (MIRT718399)
- hsa-miR-4476 (MIRT718400)
- hsa-miR-187-5p (MIRT735322)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALDH1A3
- Browse OriGene Inhibitory RNA Products For ALDH1A3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH1A3
Clone products for research
- Applied Biological Materials (abm): Clones for ALDH1A3 - Starting at $45 >
- * ALDH1A3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ALDH1A3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALDH1A3
Cell Lines for research
-
Horizon Cell Lines for ALDH1A3
No data available for Transcription Factor Targets and HOMER Transcription for ALDH1A3 Gene
Localization for ALDH1A3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ALDH1A3 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 4 |
| nucleus | 4 |
| plasma membrane | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 11585737 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0070062 | extracellular exosome | HDA | 23533145 |
Pathways & Interactions for ALDH1A3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Drug metabolism - cytochrome P450 |
Retinol metabolism
.31
|
|
| 2 | Signaling by Retinoic Acid | ||
| 3 | Metabolism | ||
| 4 | Signaling by GPCR | ||
| 5 | retinoate biosynthesis II | ||
Pathways by source for ALDH1A3 Gene
2 BioSystems pathways for ALDH1A3 Gene
3 Reactome pathways for ALDH1A3 Gene
2 KEGG pathways for ALDH1A3 Gene
1 GeneGo (Thomson Reuters) pathway for ALDH1A3 Gene
- Retinol metabolism
UniProtKB/Swiss-Prot P47895-AL1A3_HUMAN
- Pathway: Cofactor metabolism; retinol metabolism.
Interacting Proteins for ALDH1A3 Gene
GPS-Prot Interaction Network for ALDH1A3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002072 | optic cup morphogenesis involved in camera-type eye development | IEA | -- |
| GO:0002138 | retinoic acid biosynthetic process | IDA | 27759097 |
| GO:0007626 | locomotory behavior | IEA | -- |
| GO:0021768 | nucleus accumbens development | IEA | -- |
| GO:0031076 | embryonic camera-type eye development | ISS | -- |
No data available for SIGNOR curated interactions for ALDH1A3 Gene
Drugs & Compounds for ALDH1A3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| NADH | Approved | Nutra | Target | 0 | ||
| Vitamin A | Approved, Vet_approved | Nutra | Target, substrate | 732 | ||
| acetic acid | Approved | Pharma | 148 | |||
| Chloral hydrate | Approved, Illicit, Investigational, Vet_approved | Pharma | 18 | |||
| gamma-Aminobutyric acid | Approved, Investigational | Pharma | 29 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| (S)-Methylmalonic acid semialdehyde |
|
99043-16-0 |
|
|||
| 2-Propyn-1-al |
|
|
||||
| 3,4-Dihydroxymandelaldehyde |
|
13023-73-9 |
|
|||
| 3,4-Dihydroxymandelic acid |
|
775-01-9 |
|
|||
| 3,4-Dihydroxyphenylacetaldehyde |
|
5707-55-1 |
|
Drug products for research
- G Biosciences Human Aldehyde Dehydrogenase 1-A3/ALDH1A3, Liquid
Transcripts for ALDH1A3 Gene
mRNA/cDNA for ALDH1A3 Gene
- 3 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000329841 3469 nts (view in UCSC)
- ENST00000346623 3104 nts (view in UCSC)
- ENST00000557963 1670 nts (view in UCSC)
- ENST00000558033 713 nts (view in UCSC)
- ENST00000558869 586 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ALDH1A3 - Starting at $85 >
- * ALDH1A3 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 ALDH1A3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ALDH1A3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ALDH1A3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ALDH1A3
- Browse OriGene Inhibitory RNA Products For ALDH1A3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH1A3
Clone products for research
- Applied Biological Materials (abm): Clones for ALDH1A3 - Starting at $45 >
- * ALDH1A3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ALDH1A3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ALDH1A3
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||
| SP2: | - | - | - |
Relevant External Links for ALDH1A3 Gene
- GeneLoc Exon Structure for
- ALDH1A3
Expression for ALDH1A3 Gene
mRNA differential expression in normal tissues according to GTEx for ALDH1A3 Gene
This gene is overexpressed in Minor Salivary Gland (x7.3), Prostate (x5.7), and Adipose - Visceral (Omentum) (x5.5).
This gene is overexpressed in Milk (12.7), Amniocyte (10.4), Salivary gland (8.5), and Seminal vesicle (8.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH1A3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALDH1A3
SOURCE GeneReport for Unigene cluster for ALDH1A3 Gene:
Hs.459538mRNA Expression by UniProt/SwissProt for ALDH1A3 Gene:
P47895-AL1A3_HUMAN
Tissue specificity:
Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney.
Evidence on tissue expression from TISSUES for ALDH1A3 Gene
- Pancreas(4.5)
- Nervous system(3.2)
- Intestine(2.6)
- Lung(2.5)
- Eye(2.4)
- Liver(2.1)
- Kidney(2.1)
- Heart(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH1A3 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- reproductive
- skeletal muscle
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- eyelid
- face
- head
Pelvis:
- testicle
General:
- peripheral nervous system
- skin
Primer products for research
-
OriGene qPCR primer pairs for ALDH1A3
-
OriGene qPCR primer pairs and template standards for ALDH1A3
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for ALDH1A3 Gene
Orthologs for ALDH1A3 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ALDH1A3 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ALDH1A3 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ALDH1A3 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ALDH1A3 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ALDH1A3 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Aldh1a3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Aldh1a3 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ALDH6 31 |
|
OneToOne | |
| ALDH1A3 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | ALDH1A3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | aldh1a3 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | aldh1a3 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG3752 32 |
|
|
|
| Aldh 31 |
|
OneToMany | |||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.25596 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8824 31 |
|
OneToMany |
- Species where no ortholog for ALDH1A3 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)
- 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 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)
- Worm (Caenorhabditis elegans)
Evolution for ALDH1A3 Gene
- ENSEMBL:
- Gene Tree for ALDH1A3 (if available)
- TreeFam:
- Gene Tree for ALDH1A3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ALDH1A3: view image
Paralogs for ALDH1A3 Gene
Paralogs for ALDH1A3 Gene
(12) SIMAP similar genes for ALDH1A3 Gene using alignment to 5 proteins:
- AL1A3_HUMAN
- H0Y2X5_HUMAN
- H0YKF9_HUMAN
- H0YLT1_HUMAN
- H0YNQ3_HUMAN
Variants for ALDH1A3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALDH1A3 Gene
| SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 978214 | Pathogenic: Isolated anophthalmia-microphthalmia syndrome | 100,887,654(+) |
G/A NM_000693.4(ALDH1A3):c.287G>A (p.Arg96His) |
MISSENSE | |
| 978215 | Pathogenic: Isolated anophthalmia-microphthalmia syndrome | 100,895,975(+) |
G/A NM_000693.4(ALDH1A3):c.709G>A (p.Gly237Arg) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| rs112582857 | Benign: Microphthalmia, isolated 8 | 100,905,588(+) |
G/A NM_000693.4(ALDH1A3):c.1134G>A (p.Lys378=) |
SYNONYMOUS | |
| rs1130737 | Benign/Likely Benign: Microphthalmia, isolated 8; not provided | 100,879,950(+) |
A/G NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) |
MISSENSE | |
| rs113661159 | Likely Benign: Microphthalmia, isolated 8 | 100,905,597(+) |
C/T NM_000693.4(ALDH1A3):c.1143C>T (p.Cys381=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
11.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.89;
74.22% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ALDH1A3 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH1A3 Gene
Disorders for ALDH1A3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microphthalmia, isolated 8 |
|
|
| microphthalmia |
|
|
| isolated microphthalmia |
|
|
| ras-associated autoimmune leukoproliferative disorder |
|
|
| choanal atresia, posterior |
|
|
Search ALDH1A3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AL1A3_HUMAN- Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. {ECO:0000269 PubMed:23312594, ECO:0000269 PubMed:23591992, ECO:0000269 PubMed:23646827, ECO:0000269 PubMed:23881059, ECO:0000269 PubMed:24024553, ECO:0000269 PubMed:24568872, ECO:0000269 PubMed:24777706}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for ALDH1A3
- Genetic Association Database
- (GAD)
- 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 ALDH1A3 Gene
Publications for ALDH1A3 Gene
- Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6. (PMID: 7698756) Hsu LC … Hsieh CL (Genomics 1994) 2 3 4 23
- ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. (PMID: 23312594) Fares-Taie L … Rozet JM (American journal of human genetics 2013) 3 4 74
- Crystal structure of human aldehyde dehydrogenase 1A3 complexed with NAD+ and retinoic acid. (PMID: 27759097) Moretti A … Garavaglia S (Scientific reports 2016) 3 4
- Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families. (PMID: 24777706) Abouzeid H … Schorderet DF (Human mutation 2014) 3 4
- A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia. (PMID: 24024553) Roos L … Tümer Z (Clinical genetics 2014) 3 4
ExternalLinks
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Sources for ALDH1A3 Gene
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