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Aliases for ALDH1A1 Gene

Aliases for ALDH1A1 Gene

  • Aldehyde Dehydrogenase 1 Family Member A1 2 3 5
  • Retinaldehyde Dehydrogenase 1 2 3
  • EC 1.2.1.36 4 58
  • 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 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
  • Retinal Dehydrogenase 1 3
  • ALDH Class 1 3
  • EC 1.2.1.- 4
  • HEL-S-53e 3
  • EC 1.2.1 58
  • 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 Lung Adenoma. Among its related pathways are Folate-Alcohol and Cancer Pathway and Metabolism. 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 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

Additional gene information for ALDH1A1 Gene

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

Genomics for ALDH1A1 Gene

Regulatory Elements for ALDH1A1 Gene

Enhancers for ALDH1A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H073117 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -38.3 -38292 2 TBP NFIB JUN MAX CEBPB CEBPG EP300 RFX5 FOSL1 NFIC ANXA1 ALDH1A1 GC09P073115 GC09P073141
GH09H073115 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -35.8 -35801 0 MAFG JUNB BATF JUND ZNF316 MAFF MAFK EMSY ANXA1 ALDH1A1 GC09P073115 GC09P073141
GH09H072857 1.2 Ensembl ENCODE 12 +222.0 221983 2 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 SP5 REST MIER2 ZNF592 ALDH1A1 LINC01474 TMC1 PIR35064
GH09H073050 1.1 Ensembl ENCODE 12.3 +29.6 29613 1 ELF3 FOXA2 SIN3A FEZF1 ZBTB40 THRB ZSCAN9 RAD21 RARA YY1 ALDH1A1 CYP1D1P
GH09H073038 1.1 Ensembl ENCODE 11.6 +41.5 41498 1 BCOR ELF3 SOX13 CHD4 ZMYM3 ZSCAN9 RARA EGR1 ADNP HNF4G ALDH1A1 CYP1D1P GC09P073023
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALDH1A1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ALDH1A1 Gene

Chromosome:
9
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

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

  • R&D Systems Antibodies for ALDH1A1 (Aldehyde Dehydrogenase 1-A1/ALDH1A1)
  • Cell Signaling Technology (CST) Antibodies for ALDH1A1 (ALDH1A1)

Protein Products

Assay Products

Domains & Families for ALDH1A1 Gene

Gene Families for ALDH1A1 Gene

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

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 :
  • 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 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 CatalyticActivity:
Retinal + NAD(+) + H(2)O = retinoate + NADH.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by citral, disulfiram, and cyanamide. Activated by diethylstilbestrol (PubMed:19296407). Inhibited by duocarmycin analogs (PubMed:26373694).
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).

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 TAS --
GO:0004029 aldehyde dehydrogenase (NAD) activity IDA 4015840
GO:0005096 GTPase activator activity TAS 1709013
GO:0005497 androgen binding TAS 1709013
GO:0016491 oxidoreductase activity IEA --
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

Clone Products

  • Applied Biological Materials Clones for ALDH1A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , 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 2
mitochondrion 2
nucleus 2
plasma membrane 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 IDA 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

UniProtKB/Swiss-Prot P00352-AL1A1_HUMAN

  • Pathway: Cofactor metabolism; retinol metabolism.

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:0008152 metabolic process IEA --
GO:0042572 retinol metabolic process IEA --
genes like me logo Genes that share ontologies with ALDH1A1: view

No data available for SIGNOR curated interactions for ALDH1A1 Gene

Drugs & Compounds for ALDH1A1 Gene

(20) 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. 3034
Vitamin A Approved, Vet_approved Nutra Target 511
Glycerol Approved, Investigational Pharma Enzyme 253
Tretinoin Approved, Investigational Nutra Target 232
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2094

(21) Additional Compounds for ALDH1A1 Gene - From: Novoseek and 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
9-cis-retinoic acid
  • 15-Apo-beta-caroten-15-oate
  • 15-Apo-beta-caroten-15-oic acid
  • 9-cis-Retinoate
  • 9-cis-Retinoic acid
  • 9-cis-Tretinoin
Agonist
all-trans-retinoic acid
  • (all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
  • (all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
  • 3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate
  • 3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
  • Acide retinoique (French)
Full agonist, Agonist 302-79-4
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
Retinal
  • 3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-Nonatetraenal
  • All-E-Retinal
  • All-epsilon-Retinal
  • All-trans-Retinal
  • All-trans-Retinaldehyde
116-31-4

(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

Drug Products

Transcripts for ALDH1A1 Gene

Unigene Clusters for ALDH1A1 Gene

Aldehyde dehydrogenase 1 family, member A1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ALDH1A1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ALDH1A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ALDH1A1 Gene:

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(4.7)
  • Lung(4.7)
  • Kidney(4.6)
  • Blood(4.4)
  • Stomach(4.4)
  • Skin(3.2)
  • Pancreas(3.1)
  • Spleen(3.1)
  • Lymph node(2.6)
  • Thyroid gland(2.6)
  • Adrenal gland(2.1)
  • Gall bladder(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with ALDH1A1: view

Primer Products

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 34 33
  • 99.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALDH1A1 34 33
  • 90.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALDH1A1 34 33
  • 88.42 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALDH1A1 34
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aldh1a1 34 16 33
  • 84.56 (n)
OneToMany
Aldh1a7 34
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Aldh1a1 33
  • 83.9 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves ALDH1A1 33 34
  • 79.39 (n)
lizard
(Anolis carolinensis)
Reptilia ALDH1A1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldh1a1 33
  • 74.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397729 33
zebrafish
(Danio rerio)
Actinopterygii aldh2.2 34
  • 62 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3752 35
  • 65 (a)
Aldh 34
  • 62 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR417W 33
  • 54.07 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALD3 36
thale cress
(Arabidopsis thaliana)
eudicotyledons ALDH2C4 33
  • 57.55 (n)
soybean
(Glycine max)
eudicotyledons Gma.8331 33
rice
(Oryza sativa)
Liliopsida Os01g0591000 33
  • 56.04 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8824 34
  • 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 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

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
rs1000006795 -- 72,906,448(+) GAATC(A/C)ATTTT intron-variant
rs1000037475 -- 72,942,653(+) ACATG(C/T)TTTTC intron-variant
rs1000173214 -- 72,950,275(+) GCAGA(A/G)AGAAG intron-variant
rs1000282660 -- 72,920,494(+) TTGTT(G/T)AATTT intron-variant
rs1000304706 -- 72,939,039(+) CGCCC(A/G/T)GCCAA intron-variant

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
erythroplakia
  • erythroplasia
lung adenoma
  • adenoma of lung
ras-associated autoimmune leukoproliferative disorder
  • ras-associated autoimmune lymphoproliferative syndrome type iv, somatic
alcohol dependence
  • alcohol dependence, protection against
small intestinal adenocarcinoma
  • adenocarcinoma of small bowel
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ALDH1A1

Genetic Association Database (GAD)
ALDH1A1
Human Genome Epidemiology (HuGE) Navigator
ALDH1A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDH1A1
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. 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 22 45 60
  2. 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 22 45 60
  3. 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 22 45 60
  4. Association of ALDH1 promoter polymorphisms with alcohol-related phenotypes in southwest California Indians. (PMID: 15597079) Ehlers CL … Carr LG (Alcoholism, clinical and experimental research 2004) 3 22 45 60
  5. Evaluation of aldehyde dehydrogenase 1 promoter polymorphisms identified in human populations. (PMID: 14506398) Spence JP … Carr LG (Alcoholism, clinical and experimental research 2003) 3 22 45 60

Products for ALDH1A1 Gene

Sources for ALDH1A1 Gene

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