This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-t... See more...

Aliases for ALDH8A1 Gene

Aliases for ALDH8A1 Gene

  • Aldehyde Dehydrogenase 8 Family Member A1 2 3 5
  • 2-Aminomuconic Semialdehyde Dehydrogenase 3 4
  • Aldehyde Dehydrogenase 12 3 4
  • ALDH12 3 4
  • Aldehyde Dehydrogenase 8 Family, Member A1 2
  • Aldehyde Dehydrogenase Family 8 Member A1 4
  • Aldehyde Dehydrogenase Family Protein 3
  • EC 1.2.1.32 4
  • DJ352A20.2 3
  • EC 1.2.1.3 54
  • EC 1.2.1 54

External Ids for ALDH8A1 Gene

Previous GeneCards Identifiers for ALDH8A1 Gene

  • GC06M134861
  • GC06M135085
  • GC06M135219
  • GC06M135280
  • GC06M135238
  • GC06M132802

Summaries for ALDH8A1 Gene

Entrez Gene Summary for ALDH8A1 Gene

  • This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. In addition, this enzyme has been shown to catalyze the conversion of 2-aminomuconic semialdehyde to 2-aminomuconate in the kynurenine pathway of tryptophan catabolism. [provided by RefSeq, Jul 2018]

GeneCards Summary for ALDH8A1 Gene

ALDH8A1 (Aldehyde Dehydrogenase 8 Family Member A1) is a Protein Coding gene. Among its related pathways are Signaling by Retinoic Acid and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor. An important paralog of this gene is ALDH1A3.

UniProtKB/Swiss-Prot Summary for ALDH8A1 Gene

  • Catalyzes the NAD-dependent oxidation of 2-aminomuconic semialdehyde of the kynurenine metabolic pathway in L-tryptophan degradation.

Additional gene information for ALDH8A1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALDH8A1 Gene

Genomics for ALDH8A1 Gene

GeneHancer (GH) Regulatory Elements for ALDH8A1 Gene

Promoters and enhancers for ALDH8A1 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
GH06J134950 Promoter 0.7 EPDnew 750.6 +0.0 1 0.1 SP1 RXRA YY1 HNF4A REST TAF1 ALDH8A1 ENSG00000240056
GH06J134951 Enhancer 0.5 Ensembl 750.6 -0.2 -179 0.2 SP1 RXRA YY1 HNF4A REST TAF1 ALDH8A1 lnc-MYB-10
GH06J135052 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 49 -104.1 -104050 3.7 GTF3C2 SIN3A ZBTB40 ZBTB6 LCORL FOXA1 MLX SMARCE1 RBPJ POLR2A HBS1L ENSG00000232876 piR-35431 ALDH8A1 MYB ENSG00000234084 MYB-AS1 AHI1 lnc-ALDH8A1-2
GH06J135007 Enhancer 1.1 Ensembl ENCODE dbSUPER 52.8 -58.5 -58525 1.9 FOXA1 MLX NR2F1 NR2F6 CREB1 MIXL1 HLF SP1 CEBPG MLLT1 ALDH8A1 ENSG00000240056 MIR3662 lnc-ALDH8A1-2 HBS1L
GH06J135029 Enhancer 1.1 Ensembl ENCODE dbSUPER 54.3 -79.6 -79579 3.8 ZNF24 SP1 ETV6 RELA MLLT1 ZNF687 PRDM1 CREM ZBED1 IKZF1 ALDH8A1 HBS1L lnc-ALDH8A1-2 MIR3662
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALDH8A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALDH8A1 gene promoter:
  • E47
  • Evi-1
  • FOXO4
  • Lmo2
  • POU2F1
  • POU2F1a
  • Tal-1beta
  • TBP
  • TFIID
  • YY1

Genomic Locations for ALDH8A1 Gene

Genomic Locations for ALDH8A1 Gene
chr6:134,917,390-134,950,122
(GRCh38/hg38)
Size:
32,733 bases
Orientation:
Minus strand
chr6:135,238,528-135,271,260
(GRCh37/hg19)
Size:
32,733 bases
Orientation:
Minus strand

Genomic View for ALDH8A1 Gene

Genes around ALDH8A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH8A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDH8A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH8A1 Gene

Proteins for ALDH8A1 Gene

  • Protein details for ALDH8A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2A2-AL8A1_HUMAN
    Recommended name:
    2-aminomuconic semialdehyde dehydrogenase
    Protein Accession:
    Q9H2A2
    Secondary Accessions:
    • B7Z521
    • O60793
    • Q24JS9
    • Q53GT3
    • Q5TI80

    Protein attributes for ALDH8A1 Gene

    Size:
    487 amino acids
    Molecular mass:
    53401 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI14474.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALDH8A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDH8A1 Gene

Selected DME Specific Peptides for ALDH8A1 Gene

Q9H2A2:
  • EEIFGPVTCV
  • NFRFFASS
  • GLVWTNCWL
  • NQGEICLCTSRIFV

Post-translational modifications for ALDH8A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH8A1 Gene

Domains & Families for ALDH8A1 Gene

Gene Families for ALDH8A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ALDH8A1 Gene

Suggested Antigen Peptide Sequences for ALDH8A1 Gene

GenScript: Design optimal peptide antigens:
  • Aldehyde dehydrogenase 12 (AL8A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H2A2

UniProtKB/Swiss-Prot:

AL8A1_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
Family:
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH8A1: view

Function for ALDH8A1 Gene

Molecular function for ALDH8A1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the NAD-dependent oxidation of 2-aminomuconic semialdehyde of the kynurenine metabolic pathway in L-tryptophan degradation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-aminomuconate 6-semialdehyde + H2O + NAD(+) = (2Z,4E)-2-aminomuconate + 2 H(+) + NADH; Xref=Rhea:RHEA:14469, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:77634, ChEBI:CHEBI:77859; EC=1.2.1.32; Evidence=. ;.

Enzyme Numbers (IUBMB) for ALDH8A1 Gene

Phenotypes From GWAS Catalog for ALDH8A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001758 retinal dehydrogenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor IEA --
GO:0047102 aminomuconate-semialdehyde dehydrogenase activity IEA --
genes like me logo Genes that share ontologies with ALDH8A1: view
genes like me logo Genes that share phenotypes with ALDH8A1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ALDH8A1

CRISPR Products

miRNA for ALDH8A1 Gene

miRTarBase miRNAs that target ALDH8A1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ALDH8A1 Gene

Localization for ALDH8A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH8A1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDH8A1 gene
Compartment Confidence
cytosol 4
mitochondrion 0
peroxisome 0
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALDH8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with ALDH8A1: view

Pathways & Interactions for ALDH8A1 Gene

genes like me logo Genes that share pathways with ALDH8A1: view

Pathways by source for ALDH8A1 Gene

2 KEGG pathways for ALDH8A1 Gene

UniProtKB/Swiss-Prot Q9H2A2-AL8A1_HUMAN

  • Pathway: Amino-acid degradation; L-kynurenine degradation.

Gene Ontology (GO) - Biological Process for ALDH8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042573 retinoic acid metabolic process IDA 11007799
GO:0042574 retinal metabolic process IDA 11007799
GO:0042904 9-cis-retinoic acid biosynthetic process IEA --
GO:0055114 oxidation-reduction process IEA --
GO:0097053 L-kynurenine catabolic process IEA --
genes like me logo Genes that share ontologies with ALDH8A1: view

No data available for SIGNOR curated interactions for ALDH8A1 Gene

Drugs & Compounds for ALDH8A1 Gene

(1) Drugs for ALDH8A1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(4) Additional Compounds for ALDH8A1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
9-cis-Retinal
  • (13cis)-Retinal
  • (2Z,4E,6E,8E)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenal
  • 13-cis-Retinaldehyde
  • RETINAL
  • 13Z-Retinal
514-85-2, 472-86-6
Benzaldehyde
  • Artificial almond oil
  • Benzanoaldehyde
  • Benzene carbaldehyde
  • Benzene carboxaldehyde
  • Benzenecarbonal
100-52-7
Decanal
  • 1-Decanal
  • 1-Decyl aldehyde
  • Capraldehyde
  • Caprinaldehyde
  • Decanaldehyde
112-31-2
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
genes like me logo Genes that share compounds with ALDH8A1: view

Transcripts for ALDH8A1 Gene

mRNA/cDNA for ALDH8A1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH8A1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - -
SP2: - - - - -
SP3: - -
SP4:
SP5:

Relevant External Links for ALDH8A1 Gene

GeneLoc Exon Structure for
ALDH8A1
ECgene alternative splicing isoforms for
ALDH8A1

Expression for ALDH8A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDH8A1 Gene

mRNA differential expression in normal tissues according to GTEx for ALDH8A1 Gene

This gene is overexpressed in Liver (x29.1) and Kidney - Cortex (x7.2).

Protein differential expression in normal tissues from HIPED for ALDH8A1 Gene

This gene is overexpressed in Gallbladder (30.3), Liver (23.4), and Lymph node (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ALDH8A1 Gene



Protein tissue co-expression partners for ALDH8A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALDH8A1 Gene:

ALDH8A1

SOURCE GeneReport for Unigene cluster for ALDH8A1 Gene:

Hs.486520

mRNA Expression by UniProt/SwissProt for ALDH8A1 Gene:

Q9H2A2-AL8A1_HUMAN
Tissue specificity: Highly expressed in adult kidney and liver. Detected at lower levels in fetal liver and kidney.

Evidence on tissue expression from TISSUES for ALDH8A1 Gene

  • Kidney(4.5)
  • Liver(4.4)
genes like me logo Genes that share expression patterns with ALDH8A1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDH8A1 Gene

Orthologs for ALDH8A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ALDH8A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH8A1 33 32
  • 99.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH8A1 33 32
  • 88.09 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH8A1 33 32
  • 86.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh8a1 17 33 32
  • 85.42 (n)
rat
(Rattus norvegicus)
Mammalia Aldh8a1 32
  • 84.8 (n)
oppossum
(Monodelphis domestica)
Mammalia ALDH8A1 33
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH8A1 33
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALDH8A1 33 32
  • 74.61 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH8A1 33
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh8a1 32
  • 69.43 (n)
Str.13856 32
zebrafish
(Danio rerio)
Actinopterygii aldh8a1 33 32
  • 67.76 (n)
OneToOne
wufi34g05 32
worm
(Caenorhabditis elegans)
Secernentea alh-10 33 32
  • 54.07 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2301 33
  • 57 (a)
OneToOne
Species where no ortholog for ALDH8A1 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 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)

Evolution for ALDH8A1 Gene

ENSEMBL:
Gene Tree for ALDH8A1 (if available)
TreeFam:
Gene Tree for ALDH8A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH8A1: view image

Paralogs for ALDH8A1 Gene

(11) SIMAP similar genes for ALDH8A1 Gene using alignment to 3 proteins:

  • AL8A1_HUMAN
  • E9PKV1_HUMAN
  • H0YF40_HUMAN
genes like me logo Genes that share paralogs with ALDH8A1: view

Variants for ALDH8A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH8A1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000015663 -- 134,928,398(-) T/C intron_variant
rs1000071204 -- 134,928,031(-) A/T intron_variant
rs1000124967 -- 134,941,945(-) C/A/T intron_variant
rs1000135309 -- 134,934,629(-) C/A intron_variant
rs1000266697 -- 134,951,652(-) C/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH8A1 Gene

Variant ID Type Subtype PubMed ID
esv3610888 CNV loss 21293372
nsv464063 CNV gain 19166990
nsv5489 CNV deletion 18451855
nsv604722 CNV gain 21841781
nsv604723 CNV gain 21841781

Variation tolerance for ALDH8A1 Gene

Residual Variation Intolerance Score: 53.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH8A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH8A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH8A1 Gene

Disorders for ALDH8A1 Gene

Additional Disease Information for ALDH8A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ALDH8A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ALDH8A1 Gene

Publications for ALDH8A1 Gene

  1. cDNA cloning and expression of a human aldehyde dehydrogenase (ALDH) active with 9-cis-retinal and identification of a rat ortholog, ALDH12. (PMID: 11007799) Lin M … Napoli JL (The Journal of biological chemistry 2000) 2 3 4 23 56
  2. Reassignment of the human aldehyde dehydrogenase ALDH8A1 (ALDH12) to the kynurenine pathway in tryptophan catabolism. (PMID: 29703752) Davis I … Liu A (The Journal of biological chemistry 2018) 3 4 56
  3. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 43 56
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 56

Products for ALDH8A1 Gene

Sources for ALDH8A1 Gene