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 mobil... See more...

Aliases for ALDH1A1 Gene

Aliases for ALDH1A1 Gene

  • Aldehyde Dehydrogenase 1 Family Member A1 2 3 5
  • Retinaldehyde Dehydrogenase 1 2 3
  • Retinal Dehydrogenase 1 3 4
  • EC 1.2.1.36 4 51
  • ALDH-E1 3 4
  • RALDH 1 3 4
  • RALDH1 2 3
  • ALHDII 3 4
  • ALDH1 3 4
  • PUMB1 3 4
  • ALDC 3 4
  • Epididymis Secretory Sperm Binding Protein Li 53e 3
  • Aldehyde Dehydrogenase 1 Family, Member A1 2
  • 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
  • ALDH Class 1 3
  • EC 1.2.1.- 4
  • HEL-S-53e 3
  • EC 1.2.1 51
  • ALDH1A1 5
  • ALDH11 3
  • RalDH1 4
  • 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 Ras-Associated Autoimmune Leukoproliferative Disorder. Among its related pathways are Signaling by GPCR and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and acyl-CoA dehydrogenase activity. An important paralog of this gene is ALDH1A2.

UniProtKB/Swiss-Prot Summary for ALDH1A1 Gene

  • Can convert/oxidize retinaldehyde to retinoic acid. Binds free retinal and cellular retinol-binding protein-bound retinal (By similarity). May have a broader specificity and oxidize other aldehydes in vivo (PubMed:19296407, PubMed:26373694, PubMed:25450233).

Gene Wiki entry for ALDH1A1 Gene

PharmGKB "VIP" Summary for ALDH1A1 Gene

No data available for CIViC Summary , Tocris Summary , Rfam classification and piRNA Summary for ALDH1A1 Gene

Genomics for ALDH1A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ALDH1A1 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
GH09J072947 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 600.1 +128.3 128282 8.5 GATAD2A REST IKZF1 ZNF7 RBFOX2 SOX6 CEBPA SOX13 CEBPB SP1 ALDH1A1 piR-50437-665 CYP1D1P TMC1
GH09J073080 Promoter/Enhancer 0.9 EPDnew Ensembl 604.7 +0.4 441 1.6 CTCF SP1 NR3C1 RAD21 ZNF335 SMC3 BCL3 MAFK ALDH1A1 lnc-ZFAND5-4 lnc-ANXA1-7 TMC1
GH09J073083 Enhancer 0.6 ENCODE 605.1 -1.7 -1738 0.2 CTCF REST RAD21 TRIM22 CEBPB SMC3 SIN3A ZNF654 ZNF143 CC2D1A ALDH1A1 lnc-ZFAND5-4 piR-40154-199 ANXA1
GH09J073078 Enhancer 0.2 Ensembl 600.7 +1.9 1941 0.2 ALDH1A1 lnc-ZFAND5-4 lnc-ANXA1-7 TMC1
GH09J073115 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -36.4 -36359 6.4 CEBPB SP1 ESR1 NFE2 ZNF316 CHD2 JUN MAFF MAFK JUND ANXA1 ALDH1A1 LOC105376081 lnc-ANXA1-6 lnc-ALDH1A1-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALDH1A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALDH1A1

Top Transcription factor binding sites by QIAGEN in the ALDH1A1 gene promoter:
  • AML1a
  • C/EBPalpha
  • FOXD1
  • FOXI1
  • GR
  • GR-alpha
  • GR-beta
  • HFH-3
  • LyF-1
  • RSRFC4

Genomic Locations for ALDH1A1 Gene

Genomic Locations for ALDH1A1 Gene
chr9:72,900,671-73,080,442
(GRCh38/hg38)
Size:
179,772 bases
Orientation:
Minus strand
chr9:75,515,578-75,695,358
(GRCh37/hg19)
Size:
179,781 bases
Orientation:
Minus strand

Genomic View for ALDH1A1 Gene

Genes around ALDH1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDH1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for ALDH1A1 Gene

P00352:
  • QIIPWNFP
  • GPTAGAAI
  • TLELGGK
  • EGAKLECGG
  • RHEPIGV
  • AARQAFQIGSPWRTMDASERGRLLYKLADL
  • QGPQIDKEQ
  • RSVERAK
  • MRIAKEEIFGPV
  • VTLELGG
  • LIKEAGFPPGVVNIVPGYGPTAGAAISSHMDIDKVAFTGS
  • LADLIERD
  • GYGPTAG
  • AGVFTKD
  • AARQAFQIGSPWRTMDASERGRLL
  • EAGFPPGV
  • DVDKAVKAA
  • VIKRANNT
  • YTEVKTVT
  • GVVNIVPG
  • FVEESIY
  • GDKEDVD
  • ALQAGTVW
  • TKIFINNEW
  • KPAEQTPL
  • PFGGFKMSGNGRE
  • GNGRELGE

Post-translational modifications for ALDH1A1 Gene

Other Protein References for ALDH1A1 Gene

Antibody Products

  • Abcam antibodies for ALDH1A1

Domains & Families for ALDH1A1 Gene

Gene Families for ALDH1A1 Gene

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

Protein Domains for ALDH1A1 Gene

InterPro:
Blocks:
  • Aldehyde dehydrogenase
ProtoNet:

Suggested Antigen Peptide Sequences for ALDH1A1 Gene

GenScript: Design optimal peptide antigens:
  • Aldehyde dehydrogenase, cytosolic (AL1A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P00352

UniProtKB/Swiss-Prot:

AL1A1_HUMAN :
  • Belongs to the aldehyde dehydrogenase family.
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 Function:
Can convert/oxidize retinaldehyde to retinoic acid. Binds free retinal and cellular retinol-binding protein-bound retinal (By similarity). May have a broader specificity and oxidize other aldehydes in vivo (PubMed:19296407, PubMed:26373694, PubMed:25450233).
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:0000250|UniProtKB:P51647};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=9-cis-retinal + H2O + NAD(+) = 9-cis-retinoate + 2 H(+) + NADH; Xref=Rhea:RHEA:42084, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78273, ChEBI:CHEBI:78630; Evidence={ECO:0000250|UniProtKB:P51647};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=11-cis-retinal + H2O + NAD(+) = 11-cis-retinoate + 2 H(+) + NADH; Xref=Rhea:RHEA:47132, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16066, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:87435; Evidence={ECO:0000250|UniProtKB:P51647};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=59.4 uM for NAD (at pH 8.0) {ECO:0000269|PubMed:19296407}; KM=238.2 uM for acetaldehyde (at pH 8.0) {ECO:0000269|PubMed:19296407}; KM=142.2 uM for benzaldehyde (at pH 8.0) {ECO:0000269|PubMed:19296407}; KM=4.8 uM for 4-hydroxynonenal (at pH 8.0) {ECO:0000269|PubMed:19296407}; KM=121.4 uM for propionaldehyde (at pH 8.0) {ECO:0000269|PubMed:19296407}; KM=15 uM for propionaldehyde (at pH 7.5) {ECO:0000269|PubMed:25450233}; KM=3.5 uM for malonaldehyde (at pH 8.0) {ECO:0000269|PubMed:19296407}; KM=177.1 uM for trans-2-heptenal (at pH 8.0) {ECO:0000269|PubMed:19296407}; Vmax=149.7 nmol/min/mg enzyme with NAD (at pH 8.0) {ECO:0000269|PubMed:19296407}; Vmax=631.4 nmol/min/mg enzyme with acetaldehyde (at pH 8.0) {ECO:0000269|PubMed:19296407}; Vmax=750.3 nmol/min/mg enzyme with benzaldehyde (at pH 8.0) {ECO:0000269|PubMed:19296407}; Vmax=135 nmol/min/mg enzyme with 4-hydroxynonenal (at pH 8.0) {ECO:0000269|PubMed:19296407}; Vmax=445.3 nmol/min/mg enzyme with propionaldehyde (at pH 8.0) {ECO:0000269|PubMed:19296407}; Vmax=381.6 nmol/min/mg enzyme with malonaldehyde (at pH 8.0) {ECO:0000269|PubMed:19296407}; Vmax=155.8 nmol/min/mg enzyme with trans-2-heptenal (at pH 8.0) {ECO:0000269|PubMed:19296407};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by citral, disulfiram, and cyanamide. Activated by diethylstilbestrol (PubMed:19296407). Inhibited by duocarmycin analogs (PubMed:26373694).

Enzyme Numbers (IUBMB) for ALDH1A1 Gene

Phenotypes From GWAS Catalog for ALDH1A1 Gene

Gene Ontology (GO) - Molecular Function for ALDH1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001758 retinal dehydrogenase activity ISS --
GO:0004029 aldehyde dehydrogenase (NAD) activity IDA 4015840
GO:0005096 GTPase activator activity TAS 1709013
GO:0005497 androgen binding 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:

Animal Model Products

CRISPR Products

miRNA for ALDH1A1 Gene

miRTarBase miRNAs that target ALDH1A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH1A1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALDH1A1 Gene

Localization for ALDH1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDH1A1 Gene

Cytoplasm, cytosol.

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 ALDH1A1 gene
Compartment Confidence
extracellular 5
cytosol 5
cytoskeleton 3
nucleus 3
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 HDA 19056867
genes like me logo Genes that share ontologies with ALDH1A1: view

Pathways & Interactions 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
  • Retinol metabolism
1 Cell Signaling Technology pathway for ALDH1A1 Gene

UniProtKB/Swiss-Prot P00352-AL1A1_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

SIGNOR curated interactions for ALDH1A1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ALDH1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process ISS --
GO:0006069 ethanol oxidation TAS --
GO:0006081 cellular aldehyde metabolic process TAS 1709013
GO:0042572 retinol metabolic process IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with ALDH1A1: view

Drugs & Compounds for ALDH1A1 Gene

(22) Drugs for ALDH1A1 Gene - From: DrugBank, PharmGKB, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3670
NADH Approved Nutra Target 0
Tretinoin Approved, Investigational Nutra Agonist, Full agonist, Antagonist, Target 273
Vitamin A Approved, Vet_approved Nutra Target, substrate 685
Glycerol Approved, Investigational Pharma Enzyme, substrate 197

(19) Additional Compounds for ALDH1A1 Gene - From: Novoseek and 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
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
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
116-31-4, 564-87-4

(1) ApexBio Compounds for ALDH1A1 Gene

Compound Action Cas Number
Cyclophosphamide Nitrogen mustard alkylating agent and prodrug. 50-18-0
genes like me logo Genes that share compounds with ALDH1A1: view

Transcripts for ALDH1A1 Gene

mRNA/cDNA for ALDH1A1 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ALDH1A1

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

Expression for ALDH1A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 (x4.7).

Protein differential expression in normal tissues from HIPED for ALDH1A1 Gene

This gene is overexpressed in Liver, secretome (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ALDH1A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ALDH1A1

SOURCE GeneReport for Unigene cluster for ALDH1A1 Gene:

Hs.76392

Evidence on tissue expression from TISSUES for ALDH1A1 Gene

  • Intestine(5)
  • Liver(5)
  • Nervous system(4.9)
  • Eye(4.8)
  • Lung(4.7)
  • Kidney(4.7)
  • Blood(4.6)
  • Stomach(4.5)
  • Skin(3.8)
  • Pancreas(3.7)
  • Spleen(3.7)
  • Heart(3.2)
  • Thyroid gland(3.1)
  • Lymph node(3)
  • Muscle(2.9)
  • Bone marrow(2.7)
  • Adrenal gland(2.7)
  • Gall bladder(2.6)
genes like me logo Genes that share expression patterns with ALDH1A1: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ALDH1A1 30 31
  • 90.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ALDH1A1 30 31
  • 88.42 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1A1 31
  • 85 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Aldh1a1 30 17 31
  • 84.56 (n)
OneToMany
Aldh1a7 31
  • 84 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Aldh1a1 30
  • 83.9 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 83 (a)
OneToMany
-- 31
  • 73 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ALDH1A1 30 31
  • 79.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ALDH1A1 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aldh1a1 30
  • 74.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397729 30
Zebrafish
(Danio rerio)
Actinopterygii aldh2.2 31
  • 62 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG3752 32
  • 65 (a)
Aldh 31
  • 62 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR417W 30
  • 54.07 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD2 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ALDH2C4 30
  • 57.55 (n)
Soybean
(Glycine max)
eudicotyledons Gma.8331 30
Rice
(Oryza sativa)
Liliopsida Os01g0591000 30
  • 56.04 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8824 31
  • 67 (a)
OneToMany
Species where no ortholog for ALDH1A1 was found in the sources mined by GeneCards:
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ALDH1A1: view image

Paralogs for ALDH1A1 Gene

(13) SIMAP similar genes for ALDH1A1 Gene using alignment to 4 proteins:

  • AL1A1_HUMAN
  • Q5SYQ7_HUMAN
  • Q5SYQ8_HUMAN
  • Q5SYQ9_HUMAN
genes like me logo Genes that share paralogs with ALDH1A1: view

Variants for ALDH1A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALDH1A1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
711509 Benign: not provided 72,925,477(-) G/T INTRON_VARIANT
714427 Benign: not provided 72,927,164(-) A/T MISSENSE_VARIANT
746923 Likely Benign: not provided 72,927,161(-) T/C SYNONYMOUS_VARIANT
773509 Benign: not provided 72,911,950(-) C/A INTRON_VARIANT
rs1049981 - p.Asn121Ser

Additional dbSNP identifiers (rs#s) for ALDH1A1 Gene

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

Variant ID Type Subtype PubMed ID
esv3370794 CNV insertion 20981092
esv3423724 CNV insertion 20981092
esv3620653 CNV gain 21293372
esv991190 CNV insertion 20482838

Variation tolerance for ALDH1A1 Gene

Residual Variation Intolerance Score: 33.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALDH1A1 Gene

Human Gene Mutation Database (HGMD)
ALDH1A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDH1A1

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

Disorders for ALDH1A1 Gene

MalaCards: The human disease database

(19) MalaCards diseases for ALDH1A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
erythroplakia
  • erythroplasia
ras-associated autoimmune leukoproliferative disorder
  • rald
lung adenoma
  • adenoma of lung
alcohol dependence
  • alcoholism
myxofibrosarcoma
  • fibromyxoid sarcoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ALDH1A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ALDH1A1: view

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

Publications for ALDH1A1 Gene

  1. Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample. (PMID: 18331377) Kuo PH … Riley BP (Alcoholism, clinical and experimental research 2008) 3 23 41
  2. The role of aldehyde dehydrogenase-1 (ALDH1A1) polymorphisms in harmful alcohol consumption in a Finnish population. (PMID: 19129088) Lind PA … Wilhelmsen KC (Human genomics 2008) 3 23 41
  3. 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 AD (Pharmacogenetics and genomics 2008) 3 23 41
  4. Relations between polymorphisms in drug-metabolising enzymes and toxicity of chemotherapy with cyclophosphamide, thiotepa and carboplatin. (PMID: 18854779) Ekhart C … Huitema AD (Pharmacogenetics and genomics 2008) 3 23 41
  5. Association of ALDH1 promoter polymorphisms with alcohol-related phenotypes in Trinidad and Tobago. (PMID: 17286337) Moore S … Ehlers CL (Journal of studies on alcohol and drugs 2007) 3 23 41

Products for ALDH1A1 Gene

Sources for ALDH1A1 Gene