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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Clear cell carcinoma of kidney	Uncertain significance	rs138461673	RCV005929103
Sarcoma	Uncertain significance	rs138461673	RCV005929104

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	29202474
Colorectal Neoplasms	Associate	21298349, 23867710, 24886599, 32317010, 40307680
Colorectal Neoplasms	Inhibit	29381923
Colorectal Neoplasms	Stimulate	34680934
Gingivitis	Associate	22837552
Lymphatic Metastasis	Stimulate	39982024
Neoplasm Metastasis	Stimulate	39982024
Neoplasms	Associate	29202474, 34864309
Obesity	Associate	20156355
Pancreatic Neoplasms	Associate	31706267
Precancerous Conditions	Associate	40307680
Squamous Cell Carcinoma of Head and Neck	Associate	32238162
Stomach Diseases	Associate	34864309
Stomach Neoplasms	Associate	34864309
Stomach Neoplasms	Stimulate	39982024
Triple Negative Breast Neoplasms	Associate	32471192