Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ALDH1A1 Gene

Aliases for ALDH1A1 Gene

  • Aldehyde Dehydrogenase 1 Family, Member A1 2 3
  • Retinaldehyde Dehydrogenase 1 2 3
  • EC 1.2.1.36 4 63
  • RALDH 1 3 4
  • ALDH-E1 3 4
  • RALDH1 3 4
  • ALHDII 3 4
  • ALDH1 3 4
  • PUMB1 3 4
  • ALDC 3 4
  • Epididymis Secretory Sperm Binding Protein Li 53e 3
  • Aldehyde Dehydrogenase Family 1 Member A1 4
  • Aldehyde Dehydrogenase, Liver Cytosolic 3
  • Aldehyde Dehydrogenase 1, Soluble 3
  • Aldehyde Dehydrogenase, Cytosolic 4
  • Epididymis Luminal Protein 12 3
  • Acetaldehyde Dehydrogenase 1 3
  • Epididymis Luminal Protein 9 3
  • Retinal Dehydrogenase 1 3
  • ALDH Class 1 3
  • HEL-S-53e 3
  • EC 1.2.1 63
  • ALDH11 3
  • HEL-9 3
  • HEL12 3

External Ids for ALDH1A1 Gene

Previous HGNC Symbols for ALDH1A1 Gene

  • PUMB1
  • ALDH1

Previous GeneCards Identifiers for ALDH1A1 Gene

  • GC09M066559
  • GC09M067372
  • GC09M069085
  • GC09M070972
  • GC09M072745
  • GC09M074705
  • GC09M075515
  • GC09M045338

Summaries for ALDH1A1 Gene

Entrez Gene Summary for ALDH1A1 Gene

  • The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]

GeneCards Summary for ALDH1A1 Gene

ALDH1A1 (Aldehyde Dehydrogenase 1 Family, Member A1) is a Protein Coding gene. Diseases associated with ALDH1A1 include erythroplakia and gallbladder adenocarcinoma. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include androgen binding. An important paralog of this gene is ALDH1A2.

UniProtKB/Swiss-Prot for ALDH1A1 Gene

  • Binds free retinal and cellular retinol-binding protein-bound retinal. Can convert/oxidize retinaldehyde to retinoic acid (By similarity).

Gene Wiki entry for ALDH1A1 Gene

PharmGKB "VIP" Summary for ALDH1A1 Gene

No data available for Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for ALDH1A1 Gene

Genomics for ALDH1A1 Gene

Regulatory Elements for ALDH1A1 Gene

Genomic Location for ALDH1A1 Gene

Start:
72,900,662 bp from pter
End:
73,080,442 bp from pter
Size:
179,781 bases
Orientation:
Minus strand

Genomic View for ALDH1A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALDH1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDH1A1 Gene

Proteins for ALDH1A1 Gene

  • Protein details for ALDH1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00352-AL1A1_HUMAN
    Recommended name:
    Retinal dehydrogenase 1
    Protein Accession:
    P00352
    Secondary Accessions:
    • O00768
    • Q5SYR1

    Protein attributes for ALDH1A1 Gene

    Size:
    501 amino acids
    Molecular mass:
    54862 Da
    Quaternary structure:
    • Homotetramer

    Three dimensional structures from OCA and Proteopedia for ALDH1A1 Gene

neXtProt entry for ALDH1A1 Gene

Proteomics data for ALDH1A1 Gene at MOPED

Post-translational modifications for ALDH1A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALDH1A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ALDH1A1 Gene

Gene Families for ALDH1A1 Gene

HGNC:
  • ALDH :Aldehyde dehydrogenases

Protein Domains for ALDH1A1 Gene

Suggested Antigen Peptide Sequences for ALDH1A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00352

UniProtKB/Swiss-Prot:

AL1A1_HUMAN :
  • P00352
Family:
  • Belongs to the aldehyde dehydrogenase family.
genes like me logo Genes that share domains with ALDH1A1: view

Function for ALDH1A1 Gene

Molecular function for ALDH1A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Retinal + NAD(+) + H(2)O = retinoate + NADH
UniProtKB/Swiss-Prot Function: Binds free retinal and cellular retinol-binding protein-bound retinal. Can convert/oxidize retinaldehyde to retinoic acid (By similarity).

Enzyme Numbers (IUBMB) for ALDH1A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001758 retinal dehydrogenase activity IBA --
GO:0003995 acyl-CoA dehydrogenase activity --
GO:0004028 3-chloroallyl aldehyde dehydrogenase activity IBA --
GO:0004029 aldehyde dehydrogenase (NAD) activity IDA 4015840
GO:0005096 GTPase activator activity TAS 1709013
genes like me logo Genes that share ontologies with ALDH1A1: view
genes like me logo Genes that share phenotypes with ALDH1A1: view

Animal Models for ALDH1A1 Gene

MGI Knock Outs for ALDH1A1:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ALDH1A1 Gene

Localization for ALDH1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH1A1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALDH1A1 Gene COMPARTMENTS Subcellular localization image for ALDH1A1 gene
Compartment Confidence
cytosol 4
nucleus 2
cytoskeleton 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ALDH1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 2987944
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ALDH1A1: view

Pathways for ALDH1A1 Gene

genes like me logo Genes that share pathways with ALDH1A1: view

Pathways by source for ALDH1A1 Gene

2 KEGG pathways for ALDH1A1 Gene
1 GeneGo (Thomson Reuters) pathway for ALDH1A1 Gene

UniProtKB/Swiss-Prot P00352-AL1A1_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism

Interacting Proteins for ALDH1A1 Gene

Gene Ontology (GO) - Biological Process for ALDH1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006069 ethanol oxidation TAS --
GO:0006081 cellular aldehyde metabolic process TAS 1709013
GO:0006805 xenobiotic metabolic process TAS --
GO:0008152 metabolic process --
GO:0008218 bioluminescence --
genes like me logo Genes that share ontologies with ALDH1A1: view

Compounds for ALDH1A1 Gene

(8) HMDB Compounds for ALDH1A1 Gene

Compound Synonyms Cas Number PubMed IDs
9-cis-Retinal
  • 9-cis-Retinal
514-85-2
9-cis-Retinoic acid
  • Tretinoin [usan:ban:inn]
Not Available
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4

(5) Drugbank Compounds for ALDH1A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
1,4-Dithiothreitol
target
NADH
  • beta-DPNH
606-68-8 target
Nicotinamide-Adenine-Dinucleotide
53-84-9 target
Tretinoin
  • All Trans Retinoic Acid
302-79-4 target
Vitamin A
  • [11,12-3H]-Retinol
68-26-8 target

(27) Novoseek inferred chemical compound relationships for ALDH1A1 Gene

Compound -log(P) Hits PubMed IDs
aldophosphamide 86.5 7
4-hydroxycyclophosphamide 82.1 7
retinaldehyde 81.6 12
4-hydroperoxycyclophosphamide 78.5 6
carboxyphosphamide 76.1 1

(3) PharmGKB related drug/compound annotations for ALDH1A1 Gene

Drug/compound Annotation
carboplatin CA
cyclophosphamide CA
thiotepa CA
genes like me logo Genes that share compounds with ALDH1A1: view

Transcripts for ALDH1A1 Gene

Unigene Clusters for ALDH1A1 Gene

Aldehyde dehydrogenase 1 family, member A1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALDH1A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b
SP1:
SP2:
SP3:
SP4: -

Relevant External Links for ALDH1A1 Gene

GeneLoc Exon Structure for
ALDH1A1
ECgene alternative splicing isoforms for
ALDH1A1

Expression for ALDH1A1 Gene

mRNA expression in normal human tissues for ALDH1A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALDH1A1 Gene

This gene is overexpressed in Liver (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALDH1A1 Gene

SOURCE GeneReport for Unigene cluster for ALDH1A1 Gene Hs.76392

genes like me logo Genes that share expressions with ALDH1A1: view

No data available for mRNA Expression by UniProt/SwissProt for ALDH1A1 Gene

Orthologs for ALDH1A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDH1A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDH1A1 35
  • 99.47 (n)
  • 100 (a)
ALDH1A1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH1A1 35
  • 90.15 (n)
  • 91.22 (a)
ALDH1A1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH1A1 35
  • 88.42 (n)
  • 89.02 (a)
ALDH1A1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh1a1 35
  • 84.56 (n)
  • 87.03 (a)
Aldh1a1 16
Aldh1a1 36
  • 87 (a)
OneToMany
Aldh1a7 36
  • 84 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 73 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1A1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aldh1a1 35
  • 83.9 (n)
  • 86.43 (a)
chicken
(Gallus gallus)
Aves ALDH1A1 35
  • 79.39 (n)
  • 84.24 (a)
ALDH1A1 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDH1A1 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397729 35
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1a1 35
  • 74.38 (n)
  • 78.24 (a)
zebrafish
(Danio rerio)
Actinopterygii aldh2.2 36
  • 62 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Aldh 36
  • 62 (a)
OneToMany
CG3752 37
  • 65 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR417W 35
  • 54.07 (n)
  • 50.74 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD2 38
soybean
(Glycine max)
eudicotyledons Gma.8331 35
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH2C4 35
  • 57.55 (n)
  • 51.98 (a)
rice
(Oryza sativa)
Liliopsida Os01g0591000 35
  • 56.04 (n)
  • 53.75 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8824 36
  • 67 (a)
OneToMany
Species with no ortholog for ALDH1A1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALDH1A1 Gene

ENSEMBL:
Gene Tree for ALDH1A1 (if available)
TreeFam:
Gene Tree for ALDH1A1 (if available)

Paralogs for ALDH1A1 Gene

Selected SIMAP similar genes for ALDH1A1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ALDH1A1: view

Variants for ALDH1A1 Gene

Sequence variations from dbSNP and Humsavar for ALDH1A1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs13959 -- 72,930,966(-) GGATC(C/T)CCGTG reference, synonymous-codon
rs15500 -- 72,900,867(-) GCTTC(C/T)TTCCC utr-variant-3-prime
rs63319 -- 72,909,868(-) AGAAG(A/C)AAAAT intron-variant
rs168351 -- 72,902,395(+) TAGAC(A/G)GGTAT intron-variant
rs186997 -- 72,936,994(-) CCTAG(A/G)TTTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALDH1A1 Gene

Variant ID Type Subtype PubMed ID
nsv893450 CNV Gain 21882294
nsv893451 CNV Gain 21882294
esv267946 CNV Insertion 20981092
esv272222 CNV Insertion 20981092
esv991190 CNV Insertion 20482838
nsv893452 CNV Gain 21882294

Relevant External Links for ALDH1A1 Gene

HapMap Linkage Disequilibrium report
ALDH1A1
Human Gene Mutation Database (HGMD)
ALDH1A1
Locus Specific Mutation Databases (LSDB)
ALDH1A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDH1A1 Gene

Disorders for ALDH1A1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for ALDH1A1 Gene including...

Search for ALDH1A1 Gene in MalaCards »

(12) Novoseek inferred disease relationships for ALDH1A1 Gene

Disease -log(P) Hits PubMed IDs
alcoholism 51.4 4
androgen insensitivity syndrome 46.3 2
cancer 31.9 23
tumors 29.1 30
breast cancer 28.9 13

Relevant External Links for ALDH1A1

Genetic Association Database (GAD)
ALDH1A1
Human Genome Epidemiology (HuGE) Navigator
ALDH1A1
genes like me logo Genes that share disorders with ALDH1A1: view

No data available for UniProtKB/Swiss-Prot for ALDH1A1 Gene

Publications for ALDH1A1 Gene

  1. Association of ALDH1 promoter polymorphisms with alcohol-related phenotypes in southwest California Indians. (PMID: 15597079) Ehlers C.L. … Carr L.G. (Alcohol. Clin. Exp. Res. 2004) 3 23 48
  2. Evaluation of aldehyde dehydrogenase 1 promoter polymorphisms identified in human populations. (PMID: 14506398) Spence J.P. … Carr L.G. (Alcohol. Clin. Exp. Res. 2003) 3 23 48
  3. Association of ALDH1 promoter polymorphisms with alcohol-related phenotypes in Trinidad and Tobago. (PMID: 17286337) Moore S. … Ehlers C.L. (J Stud Alcohol Drugs 2007) 3 23 48
  4. The role of aldehyde dehydrogenase-1 (ALDH1A1) polymorphisms in harmful alcohol consumption in a Finnish population. (PMID: 19129088) Lind P.A. … Wilhelmsen K.C. (Hum. Genomics 2008) 3 23 48
  5. Influence of polymorphisms of drug metabolizing enzymes (CYP2B6, CYP2C9, CYP2C19, CYP3A4, CYP3A5, GSTA1, GSTP1, ALDH1A1 and ALDH3A1) on the pharmacokinetics of cyclophosphamide and 4-hydroxycyclophosphamide. (PMID: 18496131) Ekhart C. … Huitema A.D. (Pharmacogenet. Genomics 2008) 3 23 48

Products for ALDH1A1 Gene

Sources for ALDH1A1 Gene

Back to Top

Content