ADHFE1 (alcohol dehydrogenase iron containing 1)

Gene

• Entrez ID: 137872
• Gene name: Alcohol dehydrogenase iron containing 1
• Gene symbol: ADHFE1
• Synonyms (NCBI Gene): ADH8, HMFT2263, HOT
• Chromosome: 8
• Chromosome location: 8q13.1
• Summary: The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT768715	hsa-miR-1252	CLIP-seq
MIRT768716	hsa-miR-1302	CLIP-seq
MIRT768717	hsa-miR-141	CLIP-seq
MIRT768718	hsa-miR-200a	CLIP-seq
MIRT768719	hsa-miR-3122	CLIP-seq
MIRT768720	hsa-miR-3202	CLIP-seq
MIRT768721	hsa-miR-3654	CLIP-seq
MIRT768722	hsa-miR-3662	CLIP-seq
MIRT768723	hsa-miR-3688-3p	CLIP-seq
MIRT768724	hsa-miR-378	CLIP-seq
MIRT768725	hsa-miR-378b	CLIP-seq
MIRT768726	hsa-miR-378c	CLIP-seq
MIRT768727	hsa-miR-378d	CLIP-seq
MIRT768728	hsa-miR-378e	CLIP-seq
MIRT768729	hsa-miR-378f	CLIP-seq
MIRT768730	hsa-miR-378h	CLIP-seq
MIRT768731	hsa-miR-378i	CLIP-seq
MIRT768732	hsa-miR-3913-5p	CLIP-seq
MIRT768733	hsa-miR-422a	CLIP-seq
MIRT768734	hsa-miR-4298	CLIP-seq
MIRT768735	hsa-miR-4533	CLIP-seq
MIRT768736	hsa-miR-873	CLIP-seq
MIRT768737	hsa-miR-935	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004022	Function	Alcohol dehydrogenase (NAD+) activity	IBA
GO:0004022	Function	Alcohol dehydrogenase (NAD+) activity	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006103	Process	2-oxoglutarate metabolic process	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019552	Process	L-glutamate catabolic process via 2-hydroxyglutarate	IDA	16435184
GO:0046872	Function	Metal ion binding	IEA
GO:0047988	Function	Hydroxyacid-oxoacid transhydrogenase activity	EXP	16435184
GO:0047988	Function	Hydroxyacid-oxoacid transhydrogenase activity	IDA	16435184
GO:0047988	Function	Hydroxyacid-oxoacid transhydrogenase activity	IEA

Other IDs

• MIM: 611083
• HGNC: 16354
• e!Ensembl: ENSG00000147576

Protein

• UniProt ID: Q8IWW8
• Protein name: Hydroxyacid-oxoacid transhydrogenase, mitochondrial (HOT) (EC 1.1.99.24) (Alcohol dehydrogenase iron-containing protein 1) (ADHFe1) (Fe-containing alcohol dehydrogenase)
• Protein function: Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3-hydroxybutyra
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00465	Fe-ADH	52 → 456	Iron-containing alcohol dehydrogenase	Family

• Tissue specificity: TISSUE SPECIFICITY: Only expressed in adult liver. {ECO:0000269|PubMed:12592711}.
• Sequence:

  MAAAARARVAYLLRQLQRAACQCPTHSHTYSQAPGLSPSGKTTDYAFEMAVSNIRYGAAV
  TKEVGMDLKNMGAKNVCLMTDKNLSKLPPVQVAMDSLVKNGIPFTVYDNVRVEPTDSSFM
  EAIEFAQKGAFDAYVAVGGGSTMDTCKAANLYASSPHSDFLDYVSAPIGKGKPVSVPLKP
  LIAVPTTSGTGSETTGVAIFDYEHLKVKIGITSRAIKPTLGLIDPLHTLHMPARVVANSG
  FDVLCHALESYTTLPYHLRSPCPSNPITRPAYQGSNPISDIWAIHALRIVAKYLKRAVRN
  PDDLEARSHMHLASAFAGIGFGNAGVHLCHGMSYPISGLVKMYKAKDYNVDHPLVPHGLS
  VVLTSPAVFTFTAQMFPERHLEMAEILGADTRTARIQDAGLVLADTLRKFLFDLDVDDGL
  AAVGYSKADIPALVKGTLPQERVTKLAPCPQSEEDLAALFEASMKLY

• Sequence length: 467

Pathways

Reactome:

Interconversion of 2-oxoglutarate and 2-hydroxyglutarate

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	BEFREE	30052903		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	23517143		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	29202474		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29202474		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29202474	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	23517143, 24886599, 31632063		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21298349, 23867710, 24886599, 32317010, 40307680	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29381923	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34680934	Stimulate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingival diseases	Pubtator	22837552	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	39982024	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29202474		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26113264, 7604264		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	29202474		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24886599		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	20156355	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31706267	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32238162	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29169318		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	34864309	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34864309	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	39982024	Stimulate	★☆☆☆☆ Found in Text Mining only
succinic semialdehyde dehydrogenase deficiency	Succinic Semialdehyde Dehydrogenase Deficiency	BEFREE	16442322		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	32471192	Associate	★☆☆☆☆ Found in Text Mining only