ALDH3A1 (aldehyde dehydrogenase 3 family member A1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 218
Gene name Aldehyde dehydrogenase 3 family member A1
Gene symbol ALDH3A1
Synonyms (NCBI Gene)
ALDH3ALDHIII
Chromosome 17
Chromosome location 17p11.2
Summary Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT021523 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT737993 hsa-miR-150 HITS-CLIP 33718276
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0004028 Function 3-chloroallyl aldehyde dehydrogenase activity IBA
GO:0004028 Function 3-chloroallyl aldehyde dehydrogenase activity IEA
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IBA
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IDA 1737758
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
100660 405 ENSG00000108602
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30838
Protein name Aldehyde dehydrogenase, dimeric NADP-preferring (EC 1.2.1.5) (ALDHIII) (Aldehyde dehydrogenase 3) (Aldehyde dehydrogenase family 3 member A1)
Protein function ALDHs play a major role in the detoxification of alcohol-derived acetaldehyde (Probable). They are involved in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation (Probable). Oxidizes medium and long cha
PDB 3SZA , 3SZB , 4H80 , 4L1O , 4L2O , 8BB8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00171 Aldedh 1 → 428 Aldehyde dehydrogenase family Family
Tissue specificity TISSUE SPECIFICITY: High levels in stomach, esophagus and lung; low level in the liver and kidney.
Sequence
Sequence length 453
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Histidine metabolism
Tyrosine metabolism
Phenylalanine metabolism
beta-Alanine metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Metabolic pathways 		  Phase I - Functionalization of compounds
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Keratoconus Likely pathogenic rs761232139 RCV003150597
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (6)
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
ARTERIOSCLEROSIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (52)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22843091, 24677340
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30915875
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast adenocarcinoma Breast Adenocarcinoma BEFREE 11306049
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21573501
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20102361 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 24762960
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28978015, 30004670
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 24019906 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract CTD_human_DG 28038895
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic Disease Chronic disease Pubtator 35163684 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only