Gene Gene information from NCBI Gene database.
Entrez ID 221
Gene name Aldehyde dehydrogenase 3 family member B1
Gene symbol ALDH3B1
Synonyms (NCBI Gene)
ALDH4ALDH7
Chromosome 11
Chromosome location 11q13.2
Summary This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded pro
miRNA miRNA information provided by mirtarbase database.
211
miRTarBase ID miRNA Experiments Reference
MIRT451839 hsa-miR-15a-5p PAR-CLIP 23592263
MIRT451838 hsa-miR-15b-5p PAR-CLIP 23592263
MIRT451837 hsa-miR-16-5p PAR-CLIP 23592263
MIRT451836 hsa-miR-195-5p PAR-CLIP 23592263
MIRT451835 hsa-miR-424-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0004028 Function 3-chloroallyl aldehyde dehydrogenase activity IBA
GO:0004028 Function 3-chloroallyl aldehyde dehydrogenase activity TAS 7828891
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IBA
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IEA
GO:0004030 Function Aldehyde dehydrogenase [NAD(P)+] activity IDA 20699116
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600466 410 ENSG00000006534
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P43353
Protein name Aldehyde dehydrogenase family 3 member B1 (EC 1.2.1.28) (EC 1.2.1.5) (EC 1.2.1.7) (Aldehyde dehydrogenase 7) (Long-chain fatty aldehyde dehydrogenase) (EC 1.2.1.48) (Medium-chain fatty aldehyde dehydrogenase)
Protein function Oxidizes medium and long chain saturated and unsaturated fatty aldehydes generated in the plasma membrane into non-toxic fatty acids (PubMed:17382292, PubMed:23721920). May have a protective role against the cytotoxicity induced by lipid peroxid
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00171 Aldedh 5 428 Aldehyde dehydrogenase family Family
Tissue specificity TISSUE SPECIFICITY: Highest expression in kidney and lung.
Sequence
Sequence length 468
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
  Sphingolipid de novo biosynthesis
Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
PARANOID SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA 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
Colonic Diseases Colonic disease Pubtator 20729348 Stimulate
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 17001320
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 24595071 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 24595071
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 34555062 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 35116021 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 35155681 Stimulate
★☆☆☆☆
Found in Text Mining only
Hallucinations Hallucinations BEFREE 19159868
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 20729348 Stimulate
★☆☆☆☆
Found in Text Mining only
Lung Diseases Lung disease Pubtator 20729348 Stimulate
★☆☆☆☆
Found in Text Mining only