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Aliases for ALDH8A1 Gene

Aliases for ALDH8A1 Gene

  • Aldehyde Dehydrogenase 8 Family Member A1 2 3 5
  • Aldehyde Dehydrogenase 8 Family, Member A1 2 3
  • Aldehyde Dehydrogenase 12 3 4
  • ALDH12 3 4
  • Aldehyde Dehydrogenase Family Protein 3
  • DJ352A20.2 3
  • EC 1.2.1.3 63
  • EC 1.2.1.- 4
  • EC 1.2.1 63

External Ids for ALDH8A1 Gene

Previous GeneCards Identifiers for ALDH8A1 Gene

  • GC06M135085
  • GC06M135219
  • GC06M135280
  • GC06M135238
  • GC06M132802

Summaries for ALDH8A1 Gene

Entrez Gene Summary for ALDH8A1 Gene

  • This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. 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. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Three transcript variants encoding distinct protein isoforms have been identified for this gene. [provided by RefSeq, Jul 2010]

GeneCards Summary for ALDH8A1 Gene

ALDH8A1 (Aldehyde Dehydrogenase 8 Family Member A1) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Signaling by Retinoic Acid. 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.

UniProtKB/Swiss-Prot for ALDH8A1 Gene

  • Converts 9-cis-retinal to 9-cis-retinoic acid. Has lower activity towards 13-cis-retinal. Has much lower activity towards all-trans-retinal. Has highest activity with benzaldehyde and decanal (in vitro). Has a preference for NAD, but shows considerable activity with NADP (in vitro).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH8A1 Gene

Genomics for ALDH8A1 Gene

Regulatory Elements for ALDH8A1 Gene

Genomic Location for ALDH8A1 Gene

Chromosome:
6
Start:
134,917,390 bp from pter
End:
134,950,122 bp from pter
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:
    Aldehyde dehydrogenase family 8 member A1
    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

Proteomics data for ALDH8A1 Gene at MOPED

Selected DME Specific Peptides for ALDH8A1 Gene

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

Protein Domains for ALDH8A1 Gene

Suggested Antigen Peptide Sequences for ALDH8A1 Gene

GenScript: Design optimal peptide antigens:

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 BiophysicochemicalProperties:
Kinetic parameters: KM=17.5 uM for benzaldehyde {ECO:0000269 PubMed:11007799}; KM=3.15 uM for 9-cis-retinal {ECO:0000269 PubMed:11007799}; pH dependence: Optimum pH is 9. {ECO:0000269 PubMed:11007799};
UniProtKB/Swiss-Prot Function:
Converts 9-cis-retinal to 9-cis-retinoic acid. Has lower activity towards 13-cis-retinal. Has much lower activity towards all-trans-retinal. Has highest activity with benzaldehyde and decanal (in vitro). Has a preference for NAD, but shows considerable activity with NADP (in vitro).

Enzyme Numbers (IUBMB) for ALDH8A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase 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

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
Jensen Localization Image for ALDH8A1 Gene COMPARTMENTS Subcellular localization image for ALDH8A1 gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 1
nucleus 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for ALDH8A1 Gene

Pathways & Interactions for ALDH8A1 Gene

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

Pathways by source for ALDH8A1 Gene

Interacting Proteins for ALDH8A1 Gene

Gene Ontology (GO) - Biological Process for ALDH8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042904 9-cis-retinoic acid biosynthetic 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 Pharma Full agonist, Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
9-cis-Retinal
  • 9-cis-Retinal
  • 9-cis-Retinaldehyde
  • 9-cis-Vitamin A aldehyde
  • cis-9-Retinal
  • Isoretinene A
514-85-2
Benzaldehyde
  • Almond artificial essential oil
  • Artificial Almond Oil
  • Artificial bitter almond oil
  • Artificial essential oil of almond
  • Benzadehyde
100-52-7
Decanal
  • 1-Decanal
  • 1-Decanal(mixed isomers)
  • 1-Decyl aldehyde
  • Aldehyde c10
  • C-10 Aldehyde
112-31-2
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with ALDH8A1: view

Transcripts for ALDH8A1 Gene

Unigene Clusters for ALDH8A1 Gene

Aldehyde dehydrogenase 8 family, member A1:
Representative Sequences:

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 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, PaxDb, and MOPED for ALDH8A1 Gene



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.
genes like me logo Genes that share expression patterns with ALDH8A1: view

Protein tissue co-expression partners for ALDH8A1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia ALDH8A1 35
  • 88.09 (n)
  • 89.32 (a)
ALDH8A1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH8A1 35
  • 86.31 (n)
  • 87.27 (a)
ALDH8A1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh8a1 35
  • 85.42 (n)
  • 89.94 (a)
Aldh8a1 16
Aldh8a1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALDH8A1 35
  • 99.18 (n)
  • 99.18 (a)
ALDH8A1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh8a1 35
  • 84.8 (n)
  • 88.09 (a)
oppossum
(Monodelphis domestica)
Mammalia ALDH8A1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH8A1 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ALDH8A1 35
  • 74.61 (n)
  • 79.47 (a)
ALDH8A1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH8A1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh8a1 35
  • 69.43 (n)
  • 77.23 (a)
Str.13856 35
zebrafish
(Danio rerio)
Actinopterygii aldh8a1 35
  • 67.76 (n)
  • 74.13 (a)
wufi34g05 35
aldh8a1 36
  • 74 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea alh-10 35
  • 54.07 (n)
  • 52.02 (a)
alh-10 36
  • 49 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2301 36
  • 57 (a)
OneToOne
Species with no ortholog for ALDH8A1:
  • 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)

Paralogs for ALDH8A1 Gene

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

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

No data available for Paralogs for ALDH8A1 Gene

Variants for ALDH8A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH8A1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs2294315 - 134,918,674(+) TATCA(A/G)AGGGG reference, missense
rs728029 -- 134,925,191(-) GGTAT(C/G)TAGTT intron-variant
rs728030 -- 134,925,156(-) GGATC(G/T)TTAAT intron-variant
rs1022491 -- 134,938,228(+) CTGGC(C/T)GTGGG intron-variant
rs1028314 -- 134,934,572(+) aactc(A/C)accct intron-variant

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

Variant ID Type Subtype PubMed ID
nsv5489 CNV Loss 18451855
nsv464063 CNV Gain 19166990
nsv886683 CNV Loss 21882294

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)

Relevant External Links for ALDH8A1 Gene

HapMap Linkage Disequilibrium report
ALDH8A1

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

Disorders for ALDH8A1 Gene

Relevant External Links for ALDH8A1

Genetic Association Database (GAD)
ALDH8A1
Human Genome Epidemiology (HuGE) Navigator
ALDH8A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDH8A1

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 J.L. (J. Biol. Chem. 2000) 2 3 4 23 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. Genetics of coronary artery calcification among African Americans, a meta-analysis. (PMID: 23870195) Wojczynski M.K. … Reilly M.P. (BMC Med. Genet. 2013) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for ALDH8A1 Gene

Sources for ALDH8A1 Gene

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