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Aliases for ALDH8A1 Gene

Aliases for ALDH8A1 Gene

  • Aldehyde Dehydrogenase 8 Family, Member A1 2 3
  • ALDH12 3 4 6
  • Aldehyde Dehydrogenase 12 3 4
  • Aldehyde Dehydrogenase Family 8 Member A1 3
  • Aldehyde Dehydrogenase Family Protein 3
  • DJ352A20.2 3
  • EC 1.2.1.3 64
  • EC 1.2.1.- 4
  • EC 1.2.1 64

External Ids for ALDH8A1 Gene

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. GO annotations related to this gene include retinal dehydrogenase activity. An important paralog of this gene is ALDH1A2.

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

Genomic Location for ALDH8A1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH8A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH8A1 Gene

Regulatory Elements 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 for ALDH8A1 Gene

Gene Families for ALDH8A1 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

Protein Domains for ALDH8A1 Gene

UniProtKB/Swiss-Prot:

AL8A1_HUMAN
Family:
  • Belongs to the aldehyde dehydrogenase family.:
    • Q9H2A2
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:0001758 retinal dehydrogenase activity IDA 11007799
GO:0004029 aldehyde dehydrogenase (NAD) activity IBA --
GO:0016491 oxidoreductase activity --
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor --
genes like me logo Genes that share ontologies with ALDH8A1: view

miRNA for ALDH8A1 Gene

miRTarBase miRNAs that target ALDH8A1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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 2
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ALDH8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 11007799
GO:0005737 cytoplasm IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ALDH8A1: view

Pathways for ALDH8A1 Gene

SuperPathways for ALDH8A1 Gene

No Data Available

Interacting Proteins for ALDH8A1 Gene

Gene Ontology (GO) - Biological Process for ALDH8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process --
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 --
genes like me logo Genes that share ontologies with ALDH8A1: view

No data available for Pathways by source for ALDH8A1 Gene

Compounds for ALDH8A1 Gene

(5) HMDB Compounds for ALDH8A1 Gene

Compound Synonyms Cas Number PubMed IDs
9-cis-Retinal
  • 9-cis-Retinal
514-85-2
Benzaldehyde
  • Almond artificial essential oil
100-52-7
Decanal
  • N-decaldehyde
112-31-2
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADP
  • Adenine-nicotinamide dinucleotide phosphate
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 (29.1) and Kidney - Cortex (7.2).

Integrated Proteomics: protein expression 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 expressions with ALDH8A1: view

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 36
  • 99.18 (n)
  • 99.18 (a)
ALDH8A1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH8A1 36
  • 88.09 (n)
  • 89.32 (a)
ALDH8A1 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH8A1 36
  • 86.31 (n)
  • 87.27 (a)
ALDH8A1 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh8a1 36
  • 85.42 (n)
  • 89.94 (a)
Aldh8a1 16
Aldh8a1 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDH8A1 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH8A1 37
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh8a1 36
  • 84.8 (n)
  • 88.09 (a)
chicken
(Gallus gallus)
Aves ALDH8A1 36
  • 74.61 (n)
  • 79.47 (a)
ALDH8A1 37
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH8A1 37
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh8a1 36
  • 69.43 (n)
  • 77.23 (a)
Str.13856 36
zebrafish
(Danio rerio)
Actinopterygii aldh8a1 36
  • 67.76 (n)
  • 74.13 (a)
aldh8a1 37
  • 74 (a)
OneToOne
wufi34g05 36
worm
(Caenorhabditis elegans)
Secernentea alh-10 36
  • 54.07 (n)
  • 52.02 (a)
alh-10 37
  • 49 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2301 37
  • 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

Selected SIMAP similar genes for ALDH8A1 Gene using alignment to 3 proteins:

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 Sequence Context AA Info Type MAF
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
rs2064101 -- 134,929,392(+) aataa(A/G)aacac 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

Relevant External Links for ALDH8A1 Gene

HapMap Linkage Disequilibrium report
ALDH8A1

Disorders for ALDH8A1 Gene

Relevant External Links for ALDH8A1

Genetic Association Database (GAD)
ALDH8A1
Human Genome Epidemiology (HuGE) Navigator
ALDH8A1
genes like me logo Genes that share disorders with ALDH8A1: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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. (J. Hum. Genet. 2009) 3 49
  3. 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
  4. A whole genome screen for HIV restriction factors. (PMID: 22082156) Liu L. … McKnight A. (Retrovirology 2011) 3
  5. Genetics of coronary artery calcification among African Americans, a meta-analysis. (PMID: 23870195) Wojczynski M.K. … Reilly M.P. (BMC Med. Genet. 2013) 3

Products for ALDH8A1 Gene

Sources for ALDH8A1 Gene

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