Gene Gene information from NCBI Gene database.
Entrez ID 216
Gene name Aldehyde dehydrogenase 1 family member A1
Gene symbol ALDH1A1
Synonyms (NCBI Gene)
ALDCALDH-E1ALDH1ALDH11HEL-9HEL-S-53eHEL12PUMB1RALDH1
Chromosome 9
Chromosome location 9q21.13
Summary 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 liv
miRNA miRNA information provided by mirtarbase database.
73
miRTarBase ID miRNA Experiments Reference
MIRT053112 hsa-miR-140-5p Luciferase reporter assayWestern blot 23752191
MIRT053112 hsa-miR-140-5p Luciferase reporter assayWestern blot 23752191
MIRT776938 hsa-miR-1184 CLIP-seq
MIRT776939 hsa-miR-1205 CLIP-seq
MIRT776940 hsa-miR-1283 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
EZH2 Repression 22144423
TLX1 Unknown 18073142;18082256
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001523 Process Retinoid metabolic process ISS
GO:0001758 Function Retinal dehydrogenase (NAD+) activity IEA
GO:0001758 Function Retinal dehydrogenase (NAD+) activity ISS
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IDA 4015840, 12941160, 23444097, 25450233
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
100640 402 ENSG00000165092
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00352
Protein name Aldehyde dehydrogenase 1A1 (EC 1.2.1.19) (EC 1.2.1.28) (EC 1.2.1.3) (EC 1.2.1.36) (3-deoxyglucosone dehydrogenase) (ALDH-E1) (ALHDII) (Aldehyde dehydrogenase family 1 member A1) (Aldehyde dehydrogenase, cytosolic) (Retinal dehydrogenase 1) (RALDH 1) (RalD
Protein function Cytosolic dehydrogenase that catalyzes the irreversible oxidation of a wide range of aldehydes to their corresponding carboxylic acid (PubMed:12941160, PubMed:15623782, PubMed:17175089, PubMed:19296407, PubMed:25450233, PubMed:26373694). Functio
PDB 4WB9 , 4WJ9 , 4WP7 , 4WPN , 4X4L , 5AC2 , 5L2M , 5L2N , 5L2O , 5TEI , 6DUM , 7JWS , 7JWT , 7JWU , 7JWV , 7JWW , 7UM9 , 8D46 , 8DNO , 8ENE , 8PVH , 8T0N , 8T0T , 8WFQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00171 Aldedh 29 492 Aldehyde dehydrogenase family Family
Tissue specificity TISSUE SPECIFICITY: Expressed by erythrocytes (at protein level). {ECO:0000269|PubMed:17175089}.
Sequence
Sequence length 501
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Retinol metabolism
Metabolic pathways
  RA biosynthesis pathway
Fructose catabolism
Ethanol oxidation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CREUTZFELDT-JAKOB DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 21804471, 22012766, 22142828, 23060121, 23762304, 25971681, 26366059, 28467793, 29181106, 30923946
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27813328, 28476825, 30923946, 31695757
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Clear Cell Adenocarcinoma BEFREE 23762304, 25971681
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Endometrioid Endometrial Cancer BEFREE 19329942, 21231983, 25045085
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 28467793, 28484082
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 28484082
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 22012766
★☆☆☆☆
Found in Text Mining only
Adrenal Cortex Diseases Adrenal Cortex Diseases BEFREE 30121075
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 25344211
★☆☆☆☆
Found in Text Mining only
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 26896768
★☆☆☆☆
Found in Text Mining only