Gene Gene information from NCBI Gene database.
Entrez ID 128
Gene name Alcohol dehydrogenase 5 (class III), chi polypeptide
Gene symbol ADH5
Synonyms (NCBI Gene)
ADH-3ADHXAMEDSBMFS7FALDHFDHGSH-FDHGSNORHEL-S-60p
Chromosome 4
Chromosome location 4q23
Summary This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein for
miRNA miRNA information provided by mirtarbase database.
717
miRTarBase ID miRNA Experiments Reference
MIRT020534 hsa-miR-155-5p Proteomics 18668040
MIRT044260 hsa-miR-106b-5p CLASH 23622248
MIRT695423 hsa-miR-3927-3p HITS-CLIP 23313552
MIRT695422 hsa-miR-6831-5p HITS-CLIP 23313552
MIRT695421 hsa-miR-1247-3p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
RARB Unknown 1996113
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process IEA
GO:0003016 Process Respiratory system process IEA
GO:0004022 Function Alcohol dehydrogenase (NAD+) activity IBA
GO:0004022 Function Alcohol dehydrogenase (NAD+) activity IEA
GO:0005504 Function Fatty acid binding IDA 8460164
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
103710 253 ENSG00000197894
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11766
Protein name Alcohol dehydrogenase class-3 (EC 1.1.1.1) (Alcohol dehydrogenase 5) (Alcohol dehydrogenase class chi chain) (Alcohol dehydrogenase class-III) (Glutathione-dependent formaldehyde dehydrogenase) (FALDH) (FDH) (GSH-FDH) (EC 1.1.1.-) (S-(hydroxymethyl)glutat
Protein function Catalyzes the oxidation of long-chain primary alcohols and the oxidation of S-(hydroxymethyl) glutathione (PubMed:8460164). Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarac
PDB 1M6H , 1M6W , 1MA0 , 1MC5 , 1MP0 , 1TEH , 2FZE , 2FZW , 3QJ5 , 8GV3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08240 ADH_N 32 160 Alcohol dehydrogenase GroES-like domain Domain
PF00107 ADH_zinc_N 202 334 Zinc-binding dehydrogenase Family
Sequence
Sequence length 374
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
AMED syndrome, digenic Pathogenic rs748162259, rs1727938145, rs754853545 RCV001290002
RCV001290003
RCV001290004
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMED SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
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
Acute pancreatitis Pancreatitis BEFREE 29715134
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17665311, 29808834
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 11471570
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 31043586
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29860106
★☆☆☆☆
Found in Text Mining only
Asthma Asthma LHGDN 17543375
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 17543375, 20335826 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 19395503, 25359343 Stimulate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma BEFREE 20335826, 28393572
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis BEFREE 29860106
★☆☆☆☆
Found in Text Mining only